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SynGAP10 weekly 10 minute updates on SYNGAP1

SynGAP10 weekly 10 minute updates on SYNGAP1

By Mike Graglia, Syngap Research Fund

SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 762 diagnosed patients on earth according to SRF's #SyngapCensus, if you are related to one of those patients or are a researcher or clinican interested in SYNGAP1, this podcast is for you.
Learn more at www.syngapresearchfund.org/
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Stoke, Praxis, Longboard; CHOP & Adult Studies; Hope4theCure; Sprint4Syngap & Social Matters #S10e137

SynGAP10 weekly 10 minute updates on SYNGAP1Mar 26, 2024

00:00
25:23
Stoke, Praxis, Longboard; CHOP & Adult Studies; Hope4theCure; Sprint4Syngap & Social Matters #S10e137

Stoke, Praxis, Longboard; CHOP & Adult Studies; Hope4theCure; Sprint4Syngap & Social Matters #S10e137

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/


Stoke Therapeutics #StokedAboutStoke

Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential 

I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706 

This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew 


Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11 


Longboard Pharma  https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial 


Studies

https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ 

CHOP: ENDD@chop.edu 

Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view 

QOL: https://Syngap.Fund/QOL24    


Fundraisers

247 supporters have us at $79k

Team Tavilla is over half of that at $47k

Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.

Rifton bike for S4S anyone at $500+.  247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/

https://givebutter.com/ALjJXJ


Social Matters

953 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1 

Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/ 



Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Mar 26, 202425:23
SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP.  #Sprint4SYNGAP 2024 is on!  Fitter at the WH. #S10e136

SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136

Do this study for UCB: https://Syngap.Fund/QOL24 

Two killer publications:

Boston -

https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9 

Penn/ENDD - 

https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X 

Email Info at CureSYNGAP1 dot org for PDFs!

Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!  

Background: https://www.youtube.com/watch?v=pagFzSmYK8E 

Repurposing is moving apace!  More as we have it.  Ravicti. Butyrate. Nortriptyline. Acetylleucine.

Sprint4Syngap is our current fundraiser, get in there and join us!

https://curesyngap1.org/events/featured/sprint4syngap-2024/ 

https://givebutter.com/ALjJXJ 

Sprint4Syngap Total: $33,704. Tavilla Total: $6,695

Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 136 of #Syngap10 - March 16, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Mar 16, 202417:42
#RareOnTheHill and #SRFboard in DC were epic.  It’s going to be a great year. Get some #RareBrewCoffee! #S10e135

#RareOnTheHill and #SRFboard in DC were epic.  It’s going to be a great year. Get some #RareBrewCoffee! #S10e135

DC was epic, come next year!

- Board Meeting and Leadership Team.

- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!  

https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l

- Last week of Feb, don’t miss it.


#RareBrewCoffee has launched!

https://rarebrewcoffee.com/ use code SRF10


Reflecting on the latest Rick Huganir paper

- This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year.

- We are not a Rasopathy!  https://x.com/cureSYNGAP1/status/1763644994685153654?s=20 

- We need to have Prof. Huganir do a webinar!


#DEI #SyngapWhileBlack Nice work Petersen family

https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/


State Coordinators and Advocates Sign up

- We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform

- Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories


We still do warriors, 198 is from Poland!

- https://x.com/cureSYNGAP1/status/1763006900939956252?s=20

- https://curesyngap1.org/syngap-warriors/igor/- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/


Repurposing - Thought for the week

- When you try a new molecule, any new molecule, take notes, videos and pictures.  - IF a drug increases cognition, expect frustration, at first.- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing.  https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z 


Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000

https://www.youtube.com/@CureSYNGAP1


List of repurposed drugs:


Siblings - Order a kit, thank you UCB @UCBUSA 

https://curesyngap1.org/sibling-support/


Ed’s notes:

- Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY

- Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view

- Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/


Scholarship

- UCB USA Family Epilepsy Scholarship

   - Blog - https://Syngap.Fund/UCB24

   - Diagnosed with Epilepsy or immediate family member or caregiver

   - Seeking higher education

   - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view 


Fundraising

- Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24  https://www.rifton.com/  (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)

..........

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 135 of #Syngap10 - March 3, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Mar 05, 202419:26
A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I


Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!


Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A 


The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.


Repurposing: 

Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say”


Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38


List of repurposed drugs:


Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow.


Ethics. Is it ethical to sit back and let our kids suffer?


Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too!


Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html


Upcoming

Fundraising


Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Feb 24, 202435:12
What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133

What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133

A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611

B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)

C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)

D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)

De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability

E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)

F. SYNGAP1 Related-ID - ICD-10 & Hopkins

- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)

- https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021)

G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders

H. SYNGAP1 Syndrome - ICD-11

- https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024)


My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD).

These monogenic disorders are anything but monolithic.

Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)

A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome.

NDD vs DEE - We are a DEE

“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”

https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html

Give all three of our podcasts 5 stars everywhere.

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917


This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818


Episode 133 of #Syngap10 - Feb 13, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Feb 14, 202413:17
Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132

Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132

Feb 07, 202415:05
SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

Three patient stories… with the same conclusion, we don’t know enough about this disease.  

- VNS, very few meds.  If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/

- Little lady on Kepra finally getting a new drug.

- Big man getting really odd care, based on EEG


These kids are so complicated and the system is just not ready.  We can help by supporting the studies I mentioned in #S10e128


1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ 


REPURPOSING

Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention.  We have a hit from Chow that we are validating.  Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here.

Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_ 

Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm


I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha.  https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv


New Things to Know about!

CHANGES STUDY

New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later

Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view

All Studies: https://curesyngap1.org/studies/


UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24


New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago

Rare Disease Day

Fundraising

  • Get Ready for Sprint - save the date 4/27/24

  • Getting organized:

    MDBR 6/8

    2nd annual Golf Tourn in Canada 6/8

    3rd annual Scramble 10/5

    4th annual SRF Gala honoring Caren Leib 10/18

    3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre


  • New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jan 23, 202419:54
2024 is off to a GREAT start.  Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready.  #S10e130

2024 is off to a GREAT start.  Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready.  #S10e130

All week on an article (coming soon), but still time to…

PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/ 

Ed's been busy! 

Cafe Syngap Episode 8 went live

 https://curesyngap1.org/podcasts/cafe-syngap1/

Conference Family Day Recap by Paulina Polanco

https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/

Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube

https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD

Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view

CHOP/ENDD (need 50 more)

https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view

Newsletter #36 out Saturday AM Jan 6 

https://mailchi.mp/syngapresearchfund.org/2023recap

Resolutions for 2024

https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit

Attend a conference or two (pre-register for Los Angeles)

https://curesyngap1.org/events/conferences/syngap1-conference-2024/

Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)

Upcoming

  • Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT

  • Rare Disease Day - join us in DC; two blog posts:

What is Rare Disease Day & why is it the last day in February?

https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/

You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill

https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/


Sign up for the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jan 13, 202413:26
Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update.  Good feedback and frustrating stories.  #S10e129

Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129

I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67.  Here is the data:

https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-announces-positive-topline-data


Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment.  Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/


Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week!  (But it's never linear.)

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate

Guess what the first pub in 2024 is about, CBD!

https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857


This reminds me of a crazy story I heard this week, I need to share:

  • Dr. won't add Clobazam

  • Dr. pulled rec for CHOP with silly argument, Why he was wrong:

    • QEEG is different

    • Experts are experts and too few

    • IRB approved studies gather data in a consistent way and help identify endpoints.


Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/


Tony Update, 10 tomorrow.

  • It's been a rough year

  • MVSD has failed spectacularly

  • All the schools are full and the one that wanted to grow, can't.


Sign up for the studies I mentioned in #S10e128

1 - NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

4 - USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

5 - USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

6 - Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ (edited) 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jan 05, 202423:15
Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128

Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer  #S10e128

A few studies to make sure you are in over the holidays!  One brand new!

  1. NEW!!! GLOBAL -  Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey

  2. GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca

  3. GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu

  4. USA: https://ciitizen.com/syngap1/srf/ as always!  This data is critical and being used by multiple partners. Sign up/refresh!

  5. USA, East of the mountains: ENDD@chop.edu free natural history study!  #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado.  Please get in there ASAP.

  6. Texas: QEEG at Cook Childrens.  Email Corey.

All studies are on https://curesyngap1.org/studies/ 


Research Matters:


Fundraising - Let’s get to $2M!


Reminder on resources:

  • Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/

  • Tell your Warrior Story - Deanna@curesyngap1.org

  • Volunteer - https://curesyngap1.org/volunteer-with-srf/

  • New Sibling Page - https://curesyngap1.org/syngap-siblings/


Great Press Lately -


Pods to catch up on!Cafe Syngap1 Episode 7 is live!

https://podcasts.apple.com/us/podcast/episodio-07-marisol-parra-y-su-hija-isabella-desde/id1705809525?i=1000638623895 


The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Dec 23, 202316:28
Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team.  +Support Harper #JuggleIsReal - #S10e127

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team.  +Support Harper #JuggleIsReal - #S10e127

Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team.  +Support Harper #JuggleIsReal - #S10e127


12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/


9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx


9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html


10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1


12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/


12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx


12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/


Dream Team

https://www.linkedin.com/in/nashafitter/

https://www.linkedin.com/in/faridvij/

https://www.linkedin.com/in/elli-brimble-82774798/

https://www.linkedin.com/in/deven-mcgraw-6650285/


Hope for Harper is still going, help us meet the $15k match!

https://syngap.fund/harper 

https://givebutter.com/uNxleH


The Juggle is Real

Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real 


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Dec 15, 202310:16
A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126

A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126

Today a SYNGAP1 patient was dosed with 4PB.  Thank you Dr. Grinspan!


Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org 


Finances, we have two years of audited financials on https://curesyngap1.org/finances/ 


There are two reviews of the SYNGAP1 Conference and one of AES you need to read

 S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/ 

 S1 https://www.draccon.com/dracaena-report/syngap2023  

 AES https://www.draccon.com/dracaena-report/aes2023  


End of year Giving is afoot!

 Give up your cup https://givebutter.com/Iuwfzd  

 Albrecht Match https://givebutter.com/uNxleH  aka Syngap.Fund/Harper

 General Giving https://curesyngap1.org/donate/ 


Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca 


Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date!

https://www.eurekalert.org/news-releases/1006753


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Dec 13, 202306:55
ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125

ICD-11 = LD90.Y #LD90Y

https://x.com/cureSYNGAP1/status/1730629792137883800


Adult paper and study

https://x.com/AledoNeuro/status/1726206128390848604


AES - Lots of SYNGAP1 incl paper with ciitizen data

https://x.com/JillianLMcKee/status/1731420167672942878


RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers

 - Chow https://x.com/CNSdrughunter/status/1730233903602872424

 - VUS https://x.com/CNSdrughunter/status/1730268276989571512

 - Genetic Therapies https://x.com/dretico/status/1730298959824875741


FD23 - 60 Families from 16 Countries.  Awesome leadership.


Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca 


Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Dec 06, 202312:43
Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123


Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23


#SyngapConf https://Syngap.Fund/RT23

  

To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando!


FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018


Bravo to Jess Johnson & EAN

https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/ 


Amazing paper out from USC

https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/ 


Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Nov 19, 202313:09
The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123

The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123

Three Todos:

1 - Come to the #SRFconf and be sure to buy dinner tickets!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz

3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)

https://www.eurekalert.org/news-releases/1006753


EEGS MATTER

To get an EEG Biomarker, you need to collect EEGs.  Not simple.


This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)

https://www.sciencedirect.com/science/article/pii/S2667174321000380


Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1


SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)

Where’s our paper?


Beacon Biosignals is a company we know: https://beacon.bio/


You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.

https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html 


EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony’s

https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing 


Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Nov 03, 202309:23
Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier

We need endpoints and assessment tools.  We can help make it happen with this study.  Let’s get to 100 participants.  


#SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html 


How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link


Two papers already!!

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome

https://pubmed.ncbi.nlm.nih.gov/37045800/


Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

https://pubmed.ncbi.nlm.nih.gov/37534867/ 


Raise funds for SYNGAP1 Research via SRF

https://syngap.fund/give

https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt


Register for the Dinner & Conference!

29 Days until the Conference - Join us!

https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

#SyngapConf Conference Agenda!

#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I 

Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 122 of #Syngap10 - November 1, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Nov 01, 202310:56
SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”


Types of mutations

https://youtu.be/xYOK-yzUWSI 


SYNGAP1 on Alphafold

https://alphafold.ebi.ac.uk/entry/F6SEU4 


Dr. Underbake on Disordered/Unstructured Proteins

https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 


Common Missense

https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 


Young c.980T>C p.Leu327Pro

http://clinvar.com/ SYNGAP1 c.980C>T

2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/

2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/ 


SRF iPSCs

https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments 


Dr. Courtney Grant

https://www.eurekalert.org/news-releases/957967 


Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations 


Dr. Haas Webinar

https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas 


EpiMVP

https://epimvp.med.umich.edu/ 


https://leonandfriends.org/ started this work

https://www.syngapresearchfund.org/leon 

#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk 


Register for the Conference!

35 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

#SyngapConf Conference Agenda Announced!

#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I 

Press release  https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 

Give all three of our podcasts 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 121 of #Syngap10 - October 25, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Oct 25, 202317:22
Meetings Matter. Join this community at the #SyngapConf.  The Gala was a hit (again).  And our report from #PCEM2023.  Vicky’s at #Bio -  #S10e120

Meetings Matter. Join this community at the #SyngapConf.  The Gala was a hit (again).  And our report from #PCEM2023.  Vicky’s at #Bio -  #S10e120

#SyngapConf Conference Agenda Announced!

https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 


Register for the Conference!

37 Days until the Conference - Sign up by Halloween.

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf


Dinner is Separate - Join us!

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner 


Nancy is a gem

https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler 


Gala was a huge success

https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund 


#PCEM2023 was fun

https://x.com/Science_Hood/status/1716471587275227389


Vicky’s at #BIOPatientSummit23 

https://x.com/VickyAArteaga/status/1716506175024361836

https://x.com/VickyAArteaga/status/1716176260244611354

Give us 5 stars everywhere.  

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 120 of #Syngap10 - October 24, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Oct 24, 202312:26
“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble -  #S10e119

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble -  #S10e119

My trip summary to CHOP.


Melissa and her family are remarkable. “Doing this for the next generation.”


Why are we afraid to hope?  Because fear is winning.  Everything comes from Fear or Love.  Focus on the love.  Feed that one.

https://www.demellospirituality.com/love-or-fear/

https://www.urbanbalance.com/the-story-of-two-wolves/ 


#UFDCure Cannonball - October 4-6

$128,075.83 so far at 83.6%

https://www.youtube.com/watch?v=ilnPIwVy6oY 

https://www.syngapresearchfund.org/cannonballhttps://x.com/UFDTech/status/1711488218636357818?s=20 


Scramble - October 7, 2023

Have you read the Syngap Story on Julie yet? 


52 Days until the Conference - Sign up by Halloween - We need head counts.

Registration & Hotels 

Conference and Wild Type Shirts: 

Share your time and blood too!Sign up for ciitizen! Sign up for CHOP! Volunteer!

Give us 5 stars everywhere.  Like Apple podcasts!

This is a podcast subscribe!Episode 119 of #Syngap10 - October 9, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Oct 10, 202313:37
#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

#SyngapCensus

https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297
#UFDCure Cannonball - October 4-6

https://www.syngapresearchfund.org/cannonball

Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure

Pre-party https://x.com/UFDTech/status/1709366677261987862


Scramble - October 7, 2023

Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019

Site

https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund


PRAX-222 & ciitizen

Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg

Pressers

9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html 

10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day 


#mustread

Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining 

Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/ 


Wild Type Campaign

https://www.bonfire.com/wild-type-syngap1-1/ 


Conference - Sign up by Halloween - We need head counts.

Registration link: https://Syngap.Fund/Orlando  

Hotels: https://Syngap.Fund/2023hotel 

Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ 

Share your time and blood too!Sign up for ciitizen!Sign up for CHOP!

Volunteer!

Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Oct 04, 202315:16
Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info -  Cannonball is next week! — #S10e117

Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info -  Cannonball is next week! — #S10e117

CALLS TO ACTION

  1. Plan on Rare on the Hill - Week of February 25th in DC

 

  1. Take this survey

    1. Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM 

    2. Tweet https://x.com/PedsGCAbby/status/1706446478904811750 


Great papers

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

https://x.com/cureSYNGAP1/status/1706770818703953955

Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models

https://x.com/cureSYNGAP1/status/1706772916543893597

Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex

https://x.com/cureSYNGAP1/status/1707475941348540894?s=20


We’re at 248 before the BioRxiv

https://x.com/cureSYNGAP1/status/1707516877558501652?s=20 


Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1

https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1 


Sign up for the next one

10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels

https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels 


ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland 


More Recent Killer Content


Upcoming Amazing Events


Conference - Sign up by Halloween - We need head counts.

 - Registration link: https://Syngap.Fund/Orlando  

 - Hotels: https://Syngap.Fund/2023hotel 

 - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ 

Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!

 - Volunteer!

 - Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sep 29, 202311:34
Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116

Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne 

 - Katrien on the ILAE #SYNGAP10 #S10e115 


Webinar coming up:

  Behaviour, Cognition and Sensory Processing in People with SYNGAP1

  Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg

  Sept 28 @ 9am PT/ 5pm GMT


  Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s 


Events to mention

 - Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike

 - 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!

 - Scramble 10/7 Julie Miles https://syngap.fund/scramble 

 - Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR

 - Gala 10/21 Nancy Kessler https://syngap.fund/CLG3 

 - Conference 11/30 & 12/1 + Sea World or Disney 12/2


Conference - Sign up by Halloween - We need head counts.

 - Registration link: https://Syngap.Fund/Orlando  

 - Hotels: https://Syngap.Fund/2023hotel 

 - Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/ 

Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!

 - Volunteer!

Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 116 of #Syngap10 - September 18, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sep 19, 202312:56
Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)

Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson 

Dr. Eschermann's Slides  https://www.patre.info/2023/09/04/presentation-at-iec-2023/

EURAS Project Press Release https://euras-project.eu/

Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando  

 - Hotels ASAP: https://Syngap.Fund/2023hotel  

 - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF!

 - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 115 of #Syngap10 - September 17, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sep 17, 202312:43
Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114

Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83
Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687
- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525
CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk
ILAE Dublin was a great success -
- Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023
- Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1
Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Presentations
- Pharma - To follow https://syngap.fund/23
- UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda
Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/
- It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.
- If you have issues, email Virginie and Mequel.
CANNONBALL 3 is coming! October 4-6. Takeover coming soon.
- Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012
Share your time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 114 of #Syngap10 - September 10, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sep 10, 202316:39
Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113

Super Heroine: Vicky Arteaga


Fondo Syngap is tireless:

- 2 Congreso en Español on September 23, 2023

https://www.syngapresearchfund.org/professionals/2023-en-espanol

Spanish Podcast #CafeSyngap1e01 

- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg

- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw 

- Spotify https://spotify.link/MJZZVMoKGCb 

- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1 

#FondoSYNGAP


SRF is at ILAE

- Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6

- Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment 


Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani


#SyngapStories #KETO #MAD

- Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20

- Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet


Where have I been all week?

- Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016 

Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc

Super Heroine: Sydney Stelmazek

- CHOP Update

- 16 seen so far

- 27 signed up

- QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20 


CANNONBALL 3 is coming!  October 4-6.  


Super Heroine: Dr. Danielle Andrade  

Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20


Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received!  Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate 

Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)

- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611

CONFERENCE 

Registration link: https://Syngap.Fund/Orlando  

Hotels ASAP: https://Syngap.Fund/2023hotel 

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 113 of #Syngap10 - September 2, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Sep 02, 202316:33
Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112

Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112

Congratulations to Dr. Knowles, read our press release.

https://www.syngapresearchfund.org/post/syngap-research-fund-srf-awards-130-000-grant-to-advance-research-on-maladaptive-myelination-syngap1-related-epilepsy 

Check out the CSC Clinic at Stanford

https://www.syngapresearchfund.org/post/srf-announces-stanford-launches-california-synaptopathy-clinic-syngap1 

Don’t miss #S10e111 to learn about Dr. Helbig

https://www.youtube.com/watch?v=i6EZUrqsn2g 

In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian

https://www.syngapresearchfund.org/post/very-easy-non-invasive-irb-approved-study-open-to-all-syngap1-patients-available-at-ucsf 

Congratulations to Dr. Kadam for the SRF supported Case Study

Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full 

Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099

Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando  

 - Hotels ASAP: https://Syngap.Fund/2023hotel  

 - Merch https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF!

 - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts:  - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 112 of #Syngap10 - August 18, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Aug 18, 202312:51
So much news, double catch up episode. #S10e111

So much news, double catch up episode. #S10e111

*Note, we are aware part of the video froze; that’s life! 


RESEARCH!

- Dr. Helbig gave a killer presentation today… at Stanford.  It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS.  We need them all.  Sign up for Ciitizen!  https://www.ciitizen.com/SYNGAP1/

- SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf

- Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply


VOLUNTEER SITE IS UP

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund


WEBINARS ARE A VALUABLE RESOURCE

- https://www.syngapresearchfund.org/families/resources/all-webinars/webinars

- Yesterday, Dr. Underbakk, Previously with Dr. Courtney


NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness


SYNGAP STORIESAshley Frye is killing it.  Suzanne Jones just did an episode.  The CHOP team listens, so do clinicians.  Call Ashley and share your story.


COMPANY UPDATES

- Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2

- Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9

- Have not heard from RegEl or Ionis.


EVENTS

- Getting ready for the Soiree - August 26th.

- Cannonball set for October 4-6

- SRF SYNGAP1 CONFERENCE 

    - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

    - Watch #s10e109 https://youtu.be/to8SAwdzCmg


BIOMARKERS NEED BIOSAMPLES AND EEGS

- Combined Brain collections are great Dr. TJB met our very own Pavel this weekend!  Plasma, plasma, plasma.

- UCLA Study is moving forward for EEG collection.  Contact Declan via study page.


Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings.  KEEP GOING

- GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207)

- KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)

- NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)

- Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202)

- TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)

- ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)

—---

CONFERENCE 

Registration link: https://Syngap.Fund/Orlando  

Hotels ASAP: https://Syngap.Fund/2023hotel 

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 111 of #Syngap10 - August 12, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Aug 12, 202323:50
Adam’s Camp is amazing & so are compression vests #S10e110

Adam’s Camp is amazing & so are compression vests #S10e110

Adam's Camp:

Get on the mailing list! https://adamscamp.org/

Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing

Compression Clothing https://calmcare.com/

Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg

CONFERENCE 

Registration link: https://Syngap.Fund/Orlando  

Hotels ASAP: https://Syngap.Fund/2023hotel 

Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 110 of #Syngap10 - July 31, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jul 31, 202309:07
FAQs for SRF’s SYNGAP1 Conference 2023  ⁠#SYNGAP1⁠⁠ #SRFconference⁠⁠ #Orlando⁠  #S10e109

FAQs for SRF’s SYNGAP1 Conference 2023  ⁠#SYNGAP1⁠⁠ #SRFconference⁠⁠ #Orlando⁠  #S10e109

Guest Hosts: Ashley Frye & Lauren Perry


THE BASICS

Who: Everyone! Families (including extended), caregivers, scientists, industry reps. 

What: SRF’s 2nd Annual SYNGAP1 Conference. 

- Registration link: Syngap.Fund/2023ConfReg

Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center. 

- Room block:  https://Syngap.Fund/2023hotel

When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that. 

Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world! 

T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/ 

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 109 of #Syngap10 - July 20, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jul 20, 202314:00
Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG  #S10e108

Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108

Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf 

FASTERCURES

See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo 

https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train 

Census https://Syngap.fund/census - 1,238

CHOP

McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw 

NHS Blog - https://www.syngapresearchfund.org/post/natural-history-study-at-childrens-hospital-of-philadelphia-is-a-natural-win-for-srf 

What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study 

Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/

STUDIES

See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk 

But also: UCLA - EEG - West Coast!

Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/ 

PODCASTS

Brain and Life 1 and 2

https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with 

Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis 

Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica 

Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12)

Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011

Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012

CONFERENCE 

Pre-registration link: https://Syngap.Fund/2023conf  

Hotels ASAP: https://Syngap.Fund/2023hotel 

Merch https://www.bonfire.com/srf-syngap1-conference-2023/ 

All this was in today’s newsletter! https://Syngap.Fund/News33 

Ed is doing a great job with these, thank you Ed!

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 108 of #Syngap10 - July 13, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jul 14, 202317:39
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107

RECENT EVENTS

MDBR Blog https://www.syngapresearchfund.org/post/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration

Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU

Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing

Family Video and Fundraiser:

Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM

Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday

SRF in the World:

SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice

SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#

CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS

CORNELL

English https://redcap.link/syngapcaregiversurvey

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY

COMBINEDBrain Biorepository

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

  • STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)

  • Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)

CINEMAS STUDY - Mild Intellectual Delay

https://cinemasstudy.com/#right_for_me 

PRESS

Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah

FUTURE EVENTS

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap

August 26 - Syngap Soiree  https://e.givesmart.com/events/wiH

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/

October 30-31 - Epilepsy Awareness Day at Disneyland  https://epilepsyawarenessday.org/lobby-page/

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

Conference pre-registration link: Syngap.Fund/2023conf

Book hotels ASAP: https://Syngap.Fund/2023hotel

T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/

WEBINARS

Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations

- Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1

PODCAST

- Syngap Stories, interviews, see #10 with Dani Williams  https://www.syngapresearchfund.org/podcast-episodes/episode-010

Volunteer with SRF! Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 107 of #Syngap10 - June 14, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jun 14, 202308:40
THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en espanol & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en espanol & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!

Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.

SynGAP Paddle Slap

Stats: They had 12 teams play in the tournament.  About 120 people joined the crawfish boil.  Actual $ breakdown: Total Actual Income $23,250.00.

Article https://www.localmemphis.com/article/life/family/rare-disease-research-promoted-integra[…]1-austim-epilepsy/522-b805046b-d05e-4f17-a8ab-69421293f926 

Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html 

Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449 

Two blogs en Español

https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147 

https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145 

STUDIES

ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view# 

Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I 

Cornell study

English https://redcap.link/syngapcaregiversurvey 

Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY 

COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1 

SCIENCE

1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2 

"Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease 

EVENTS

June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9 

June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap 

August 26 - Syngap Soiree  https://e.givesmart.com/events/wiH 

October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023 

October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/ 


CONFERENCE

Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SRF https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund 

Conference pre-registration link: https://Syngap.Fund/2023conf 

Book hotels ASAP: https://Syngap.Fund/2023hotel

Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/ 


WEBINARS

June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1 

June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations 

PODS

- Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008 

- Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 106 of #Syngap10 - June 6, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jun 06, 202319:47
This is the ENDD of excuses.  Sign up for the CHOP ENDD Study - #S10e105

This is the ENDD of excuses.  Sign up for the CHOP ENDD Study - #S10e105

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org

This is the ENDD of excuses.  Sign up for the CHOP ENDD Study.


There is so much work to do, volunteer Info@SyngapResearchFund.org 


This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818


Episode 105 of #Syngap10 - May 19, 2023

#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

May 19, 202315:18
Connection for Science - #S10e104

Connection for Science - #S10e104

Long trip, but first…

Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors https://syngap.fund/sprint23 

Phoebe was just diagnosed this year, so it was our first year participating in Sprint4Syngap. We had over 75 family, friends, neighbors, and supporters attend our event in DC. 

Stoke - Earnings and steady progress.

“This morning we reported Q1 financial results and provided a few business updates. Stoke is on-track to report new data from the ongoing Phase 1/2a clinical studies of STK-001 in children and adolescents with Dravet syndrome in mid-2023. The data readout will focus on safety and seizure frequency results for up to 16 patients who received three doses of 45mg of STK-001 and there are plans to initiate a pivotal study in 2024, pending this additional data.  Also, as we recently shared, Stoke received authorization to initiate a Phase 1/2 study in the UK of STK-002, an investigational new treatment for Autosomal Dominant Optic Atrophy (ADOA).”

Deck: https://investor.stoketherapeutics.com/static-files/40ff9e8c-9554-4164-911e-4438676d9001

$ 254.2M as of 3/31/23 (because of Acadia deal)

 

Webinars - https://syngap.fund/webinar 

- McKee is up and a must watch - such tremendous data (Sign up for ciitizen, https://ciitizen.com/syngap1)

- Smith 5/11 - Catatonia in Neurodevelopmental Conditions https://syngap.fund/smith 

- Lacoste 5/18 - Involvement of the brain endothelium in neurodevelopmental disorders https://syngap.fund/lacoste 

Podcasts

- Syngap Stories, interviews, see #7 with Peter Halliburton https://www.syngapresearchfund.org/syngap-stories

- OUAG with Janie Reade #184 https://effieparks.com/podcast/episode-184-more-of-everything 

#BrainDonationAwarenssDay

- https://www.syngapresearchfund.org/post/syngap-research-fund-srf-partners-with-autism-brainnet

- https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet 

- https://twitter.com/cureSYNGAP1/status/1655180930644951041 

Red-eye! Congrats to Chow Lab for SYNGAP1 Press

- https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease- 

Paper Alert! #ASO

- Prosser on ASO - https://threadreaderapp.com/thread/1655611277232967681.html 

Big trip

- Boot Camp - https://twitter.com/JMGraglia/status/1652026502899445760

- CHOP - More in Next Episode (#S10e105) Sydney & Yulia https://twitter.com/JMGraglia/status/1653479046905249820

- RDDS - GG with Yulia - https://twitter.com/GlobalGenes/status/1653415768317370373

- St. Jude with Kevin - https://twitter.com/JMGraglia/status/1654560540541288448

RIP Marie

- https://www.facebook.com/mike.graglia/posts/pfbid02iuj7TmQ5P8EedhSBtqtC8wcxrzBp2RyEYPb3nzeLW6jXgmvFFSEpNXSbmChTJBzCl 


#MDBRSRF - 32 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 205 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel 

Remember the Biorepository Roadshow - https://syngap.fund/roadshow 

List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB 

- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

.......

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

There is so much work to do, volunteer Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 104 of #Syngap10 - May 9, 2023

#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

May 10, 202321:49
All About #Sprint4Syngap 2023! #S10e103 

All About #Sprint4Syngap 2023! #S10e103 

Grand Total: $241,359 – Incredible! Congratulations to all the teams. 

In-Person Events: 

Team Tavilla raised $162,464…and counting

Hope for Hadley raised $10,059… and counting

Team Syngap America Latina raised over $2,000

Canada - Team Mya raised over $2800 & Team Chase raised over $2300 

Team Andrew raised over $3,200

Team Emma Mae raised over $3,000 

Team Kai raised over $2,600

Team Gracyn raised $1,864

Team Naya raised $1,795 

Team Patrick raised $1,240

Kilometers4Kai raised $952

March4McKaela raised $550 

Online Fundraisers: 

Phoebe’s fight’s total is $32,269

Team Rocco 10,698

Team Fallyn total 1402

Team Saydee total 1123

Sprinting for Laila up in Canada raised $1029

Misko’s family in the Czech Republic is at $850

Team Teddy raised $600

Hope for Reef raised $553

Team Lizzy at $100

Rifton Giveaway 

Congrats to Andrew who won the customize Rifton bike!

Sprint4Syngap 2024

Saturday, April 27 

There is so much work to do, volunteer Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap

#fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

May 04, 202310:05
McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days!  The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection!  #S10e102 #DNAday

McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAday

Webinars

McKEE 4/27 https://syngap.fund/mckee  - Ciitizen SYNGAP1 count is over 212

     - Sign-UP https://ciitizen.com/syngap1 

     - Sign-IN & Update https://app.ciitizen.com/  

 SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste


#Sprint4Syngap - 4 days, April 29, 2023

- $210k, 652 donors.

- https://syngap.fund/sprint 

- Fundraising page: https://syngap.fund/sprint23

What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368

Caregiver Connect from DSF

Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at: - https://dravetfoundation.org/caregiver-resources/caregiver-connect/

 - aka https://syngap.fund/dsfcc 


Rare News Updates

  1. PGx, just do it. 

    1. ​​https://www.nature.com/articles/s41397-020-00181-w

    2. Invitae

  2. Killer paper overview on therapy types

    1. https://www.spectrumnews.org/opinion/q-and-a/the-future-of-autism-therapies-a-conversation-with-lilia-iakoucheva-and-derek-hong/ 

    2. https://www.nature.com/articles/s41398-023-02356-y 


#MDBRSRF - 46 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 219 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel 

Remember the Biorepository Roadshow - https://syngap.fund/roadshow 

List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB 

- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)

- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)

- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)

- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)

- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)

- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)

- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)

- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)

- (Potential) Angelman Foundation, November 2023 (Orlando, FL)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

There is so much work to do, volunteer Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 102 of #Syngap10 - April 25, 2023 #DNAday

#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Apr 26, 202313:03
SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368


Congrats to Dr. Frazier on the FIRST NET paper:  https://twitter.com/cureSYNGAP1/status/1646573476353044481 


Thanks to Kevin for going to Gatlinburg

- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433

- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097


Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases”

https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with 


Sibling day

John https://youtu.be/J5oBo9zcRUE 

LGS https://www.youtube.com/watch?v=kR1nWSEZPfY 


Webinars

McKEE 4/27 https://syngap.fund/mckee  

SMITH 5/11 https://syngap.fund/smith 


Ciitizen SYNGAP1 count is over 2101

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN & Update https://app.ciitizen.com/


Rare News Updates

1. Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia

https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases 

2. SCN2A Clinical Trial Site and Video, which is very good!

https://www.youtube.com/watch?v=z9SqMSO405I

https://scn2aclinicaltrials.com/

3. Frog update: See what Dr. Helen Willsey is doing here:

https://youtu.be/Gp8sROAm5D8 


#Sprint4Syngap - 14 days, April 29, 2023

- https://syngap.fund/sprint 

- Fundraising page: https://syngap.fund/sprint23


#MDBRSRF - 56 days - June 10, 2023

syngap.fund/mdbr23


#SyngapConf - 229 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel 

Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A 

- Education survey https://forms.gle/YZJZmJavMNKNEBg88

- Biorepository Roadshow - https://syngap.fund/roadshow 


List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB 

- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)

- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)

- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)

- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)

- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)

- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)

- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)

- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)

- (Potential) Angelman Foundation, November 2023 (Orlando, FL)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)


There is so much work to do, volunteer Info@SyngapResearchFund.org 


This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818


Episode 101 of #Syngap10 - April 15, 2023 


#frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Apr 15, 202320:55
💯Episode 100!  Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!!  #S10e100

💯Episode 100!  Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!!  #S10e100

How is the podcast doing?

- Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k 

- Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!


What you can do this week?

- Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.

- Tell me if you have any GI biopsies planned.

- Plan your travel

- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing 

- Annual Conference - Preregister Syngap.Fund/2023conf  


Any great press?

- Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048 

- Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643 

- Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048 


Rare News Updates

- ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016 

- Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336


#Sprint4Syngap - 21 days, April 29, 2023

- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund  

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

#MDBRSRF - 63 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 236 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.


List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)

- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)

- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)

- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)

- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)

- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)

- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)

- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)

- (Potential) Angelman Foundation, November 2023 (Orlando, FL)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

- SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL)


There is so much work to do, volunteer Info@SyngapResearchFund.org 


This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818


Episode 100 of #Syngap10 - April 8, 2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Apr 09, 202313:55
🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99

🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99

Watch the COMMBINEDbrain / TJB Webinar!

https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1


Frogs are cool

https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/ 


#SYNGAPcensus is at 1,251

https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023 


SYNGAP is HOT

https://www.youtube.com/watch?v=X4iDyHc4xUA 


#Sprint4Syngap - 28 days, April 29, 2023

- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund  

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 


#MDBRSRF - 70 days - June 10, 2023

syngap.fund/mdbr23


#SyngapConf - 243 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer Info@SyngapResearchFund.org 


This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818


Episode 99 of #Syngap10 - April 1, 2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Apr 01, 202314:42
Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98

Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98

Milken Fastercures RPMM

- So much strong work and thinking here!

https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM 

- Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi 

- Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20 


Why we need a house?

www.fpwr.org - www.jdrf.org - www.runx1-fpd.org 


Press is key!  Congrats to Peggy

https://www.newsandtribune.com/news/clark_county/floyd-family-seeks-to-lessen-funding-gap-for-rare-genetic-disorder/article_d16460f4-c8f8-11ed-a60c-170e5bfff4d6.html 


Amazing Webinars

- Jillian McKee - April 27th - https://syngap.fund/mckee 


Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN https://app.ciitizen.com/

#Sprint4Syngap - 36 days, April 29, 2023

- https://syngap.fund/sprint

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

#MDBRSRF - 79 days - June 10, 2023

syngap.fund/mdbr23

#SyngapConf - 252 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.

There is so much work to do, volunteer Info@SyngapResearchFund.org 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 98 of #Syngap10 - March 23,  2023 

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Mar 24, 202312:57
Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report - #S10e97

Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report - #S10e97

Community with families
- Amazing time with the Hardings, thank you.
www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl
- Hattie and Tony at the pool with the Fosters
- Foster movie link on website: www.syngapresearchfund.org/patient-stories/hattie/
- Foster press - 3/13/23 - KMBC News: www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/
- 2/28/23 - Fox4KC fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/
- Throw them in occasionally.

Talking to 2 year olds
- LA, NorCal, DC, NY - www.syngapresearchfund.org/post/140-my-reema-syngap1
- You are fortunate to know.
- Your future will be different and we have written that story, see McKee and Brimble
- twitter.com/JillianLMcKee/status/1600202742269501442
- twitter.com/cureSYNGAP1/status/1636177159059574784
- We chose between Love and Fear, Hope and Despair www.demellospirituality.com/love-or-fear/
- Choose hope, love you kiddo by joining SRF and working with us for a better future.

Amazing Webinars
- From the EU this Thursday: www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - syngap.fund/mckee

Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP ciitizen.com/syngap1
- Sign-IN app.ciitizen.com/

Stoke and Praxis Updates
- Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration
- Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1
- See Next 2023 from Global Genes, industry updates start on page 50 20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf

#Sprint4Syngap
- syngap.fund/sprint
- Fundraising page: secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:
podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Mar 16, 202316:53
Rare Disease Day 2023 was epic and you should have been there.  Sprint and Webinar update. #S10e96

Rare Disease Day 2023 was epic and you should have been there.  Sprint and Webinar update. #S10e96

RD Advocacy with Everylife Foundation was Epic.
-
everylifefoundation.org/rare-advocates/rare-disease-week/
- Join us next year! Be in cool pictures like this
- twitter.com/rareadvocates/status/1631421473842667520
- twitter.com/RareAdvocates/status/1631038634936741890
- Here were our asks:
- everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf
- everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf
- everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf
- everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf

#Sprint4Syngap
- syngap.fund/sprint
- Fundraising page: secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY

Amazing Webinars
- From the EU this Thursday: www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - syngap.fund/mckee

Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP ciitizen.com/syngap1
- Sign-IN app.ciitizen.com/

Listen to #S10e95

There is so much work to do, volunteer Info@SyngapResearchFund.org

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:
podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 96 of #Syngap10 - March 6, 2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Mar 06, 202313:38
Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95

It’s RARE DISEASE DAY! Hattie has a new video! https://www.syngapresearchfund.org/families/movies I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation - https://ncats.nih.gov/news/events/rdd - https://everylifefoundation.org/rare-advocates/rare-disease-week/ We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 Deadline for Grants is 3/1 - https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go. - Remember, there is an adaptive bike in play! - New family has an event to go to… COMMUNITY Amazing Webinars - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - April 27th - https://syngap.fund/mckee Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records - Sign-UP https://ciitizen.com/syngap1 - Sign-IN https://app.ciitizen.com/ iPSCs & Missense Mutations/Variants - https://syngap.fund/ipsc - https://www.syngapresearchfund.org/ips-cell-models - 30 lines, 3 missense on the list, 1 more in Europe I know about - I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line. There is so much work to do, volunteer - Info@SyngapResearchFund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 95 of #Syngap10 - February 28, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Feb 28, 202318:57
Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94

Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94

We have a $20k match! - https://syngap.fund/rdd23 - https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 #Sprint4Syngap - https://syngap.fund/sprint23 - Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - 13 Teams! Four already raising funds: Team Tavilla, Team Naya, Hope4Hadley, Team Lizzy. Nine more ready to go. - Bonfire Shirts: https://www.bonfire.com/sprint-for-syngap-2023/ Amazing Webinars - Brain Surgery - Done https://www.syngapresearchfund.org/webinars/69-syngap1-and-epilepsy-surgery-is-it-time-to-consider-a-different-toolbox - Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1 - Jillian McKee - Date TDB - https://syngap.fund/mckee Killer Blogs on Free Genetic Testing - Simons https://www.syngapresearchfund.org/post/136-support-simons-searchlight-2023-campaign-sign-up - How to get testing https://www.syngapresearchfund.org/post/137-how-to-get-free-genetic-testing-for-people-with-autism-special-needs-epilepsy - Why it matters https://www.syngapresearchfund.org/post/138-why-getting-a-genetic-diagnosis-matters-especially-for-syngap1 - List of things to do this year! https://www.syngapresearchfund.org/post/139-srf-attended-advanced-therapies-week-in-miami-when-will-you-go-to-a-conference-for-syngap1 PRAX-222 Day! - https://twitter.com/cureSYNGAP1/status/1628189201232699393 - https://clinicaltrials.gov/ct2/show/NCT05737784?term=seizures&cond=Epilepsy&sfpd_s=02%2F08%2F2023&sfpd_d=14&sel_rss=new14 Syngap Stories is on! https://www.syngapresearchfund.org/syngap-stories Ciitizen is over 200! Update your Ciitizen Records - Sign-IN https://app.ciitizen.com/ - Sign-UP https://ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 94 of #Syngap10 - February 23, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Feb 23, 202311:52
More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93

More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93

-Beacon - EEGs are critical for us. https://beacon.bio/

-Diagnosis: Heather

- Survey: https://syngap.fund/maybe

- Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1

- https://sparkforautism.org/

- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE

- OUAG - Testing Poem -
Roses are red, Violets are blue
You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261

-Rare Disease Swarm - So many genes, moving so fast.

- Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w

- Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w

- Hotels are cool, start planning for a great weekend in December in Florida now…

- Short Link: https://syngap.fund/2023conf

- Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform

-Grief: https://twitter.com/curesyngap1/status/1623934799009419265

- ENDD Webinar hosted by STXBP1

- Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616

- Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE

- More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8

Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/

- Sign-UP https://ciitizen.com/syngap1

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 93 of #Syngap10 - February 12,  2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Feb 14, 202320:24
10 Reasons SYNGAP-land is hopeful & exciting today #S10e92

10 Reasons SYNGAP-land is hopeful & exciting today #S10e92

1. Last week RegEl announced that their CNS Pipeline: Dravet, SCN2A & SYNGAP1 - News https://twitter.com/cureSYNGAP1/status/1621293977579442177 - Follow her https://twitter.com/navneetkmatharu - And him https://www.linkedin.com/in/jordane-dimidschstein-a1114852 2. Yesterday, Penn announced a $25m grant to the ENDD Program which is a dream team. - Announcement: https://twitter.com/curesyngap1/status/1623000399300153344?s=46&t=GQBKtxA44lny0qsvNyEkAw - Prosser Webinar: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides - Heller Webinar: https://www.syngapresearchfund.org/webinars/dr-elizabeth-heller-phd-upenn-understanding-syngap1 3. Ingo updated his famous gene timeline chart and included SYNGAP1 - we are on the map https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw 4. Praxis had an earnings call, and it looks like they will have a big year and enough cash to get to next year. https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-7 5. We have a new podcast! Yes, SRF was one of the first to create its own podcast and now we have two. https://www.syngapresearchfund.org/syngap-stories 6. Grants are due on March 1 and we already have a few! https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st 7. Rare Disease Day is end of month https://www.syngapresearchfund.org/post/133-what-is-rare-disease-day-why-is-it-the-last-day-in-february-syngap1 8. Three ways to raise money! - We have a match for all donations this month up to $20k, donate! https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023 - Sprint for Syngap: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 - MDBR: https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-million-dollar-bike-ride-mdbr-2023-for-syngap1 9. We have a clinical trials page. Check it out. https://www.syngapresearchfund.org/families/resources/clinical-trials 10. Many other signs of progress - RSRT Gene Therapy Announcement. https://twitter.com/cnsdrughunter/status/1617522729900707840?s=46&t=XW7hz9hgm6v3IAOPAmS_Kg - Rare Revolution Magazine on Siblings. https://rarerevolutionmagazine.com/rare-reports/ - Poison Exon Dance from the Carvill Lab. https://www.youtube.com/watch?v=jV3Ne0nmmNU This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 92 of #Syngap10 - February 8, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Feb 08, 202315:59
Why we need to keep talking about SYNGAP1 #S10e91

Why we need to keep talking about SYNGAP1 #S10e91

Why we need to keep talking about SYNGAP1 #S10e91

Press is good!  
- Short link:
https://syngap.fund/nw

- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362

Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf

Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE

Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/

- Sign-UP https://ciitizen.com/syngap1

Conference Videos are up from Science Day!

https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable

Grant applications due March 1, 2023

https://www.syngapresearchfund.org/professionals/grants/how-to-apply

Priority Areas:
- Biomarkers & Endpoints

- VUS Resolution

 - Characterizing SYNGAP1 patients in the literature

- SYNGAP1 Translational Science

Help Research with this brief survey.  Tell a friend and share these links - 200 & counting, $50 each.

- Short link: https://syngap.fund/UCSF_survey

- Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 91 of #Syngap10 - January 31,  2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

Jan 31, 202309:58
Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

Seven Ways to advance SYNGAP1 Research this week. Post video, take survey, tell us your opinion on Rare-X/Simons, Update Ciitizen, #SRFWW, JR’s book, Plan. #S10e90

Seven Ways to help:

- Post a video with a seizure

- Take a 10 minute survey

- Tell us how you feel about Simons and Rare-X

- Signup for or Update Ciitizen

- Signup for or share a Wednesday Warrior

- Buy JR’s book and give it to someone

- Plan your fundraiser this year

Videos of kids with seizures.  #SYNGAPseizure

#biomarker

Help Research with this brief survey.  Tell a friend and share these links - 150 & counting, $50 each.

- Short link: https://syngap.fund/UCSF_survey

- Long link: fd91u8h6784.typeform.com/to/cvMzzG9z?utm_source=advocacy_org&utm_medium=email&utm_campaign=predictive_tool_survey&utm_term=syngap_research_fund

Simons and Rare-X - What do you think?

- https://syngap1.rare-x.org/

- https://www.simonssearchlight.org/research/what-we-study/syngap1/

Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/

- Sign-UP https://ciitizen.com/syngap1

Another special Wednesday Warrior, please read - 17 year old

- https://www.syngapresearchfund.org/syngap-warrior/eli-2

- https://www.syngapresearchfund.org/get-involved/advocacy/share-your-story

JR WEBINAR - MORE OF EVERYTHING - BOOK

- Recording Available - https://syngap.fund/jr
- Buy the book: https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL

Congrats to the Stromgaard Lab on a big award.

- https://twitter.com/cureSYNGAP1/status/1614948835067068416?s=20&t=KxO5w7Fk9MuOvc6wHyUWUw

Thank you to Ingo for updating your graphic on genes

- https://twitter.com/ingohelbig/status/1615693871769321472?s=46&t=XfQ6xkKY7cQaFZnRTbaSNw

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts:

- https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 90 of #Syngap10 - January 21,  2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Jan 21, 202311:54
JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

JR’s book, ORCA & RareX, Data talks, Update Ciitizen, Syndrome Management, ASOs for the Brain, Libby & Espy #S10e89

JR WEBINAR - MORE OF EVERYTHING - BOOK

- Thursday January 17, 2023 - https://syngap.fund/jr
- Direct link: https://us02web.zoom.us/webinar/register/WN_EMzPKDWiRluBMmslT0wpdA

ORCA Progress and Rare-X - Sign up now and if signed up, take the ORCA.

- Login/Signup for Rare-X https://syngap1.rare-x.org/

- Take the ORCA

Ingo’s CNS talk shows us what is possible with Ciitizen Data, other data.  And how distinct SYNGAP1 is…

Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/

- Sign-UP https://ciitizen.com/syngap1

All about Syndrome Management, let’s get beyond seizures.

https://twitter.com/CNSdrughunter/status/1612863006148366356

PRAX-222 is number 3.  So exciting.  To see ASOs go into the Brain.

1. Stoke with #SCN1A

2. Ultragenyx with Angelman Syndrome

3. Praxis with #SCN2A via #PRAX222

4. Who will 4 be?  Will it be #CDKL5?  #STXBP1? SYNGAP1?

Very special Wednesday Warrior, please read - 19 year olds

https://twitter.com/cureSYNGAP1/status/1613263197930422272

Ellen’s Dx Journey - 40 year old

https://www.syngapresearchfund.org/post/131-is-it-genetic-my-40-year-journey-of-misdiagnoses-for-my-son

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 89 of #Syngap10 - January 14,  2023

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

Jan 16, 202310:56
New Grant, Rare Affair, SYNGAP1 research and events  #S10e88

New Grant, Rare Affair, SYNGAP1 research and events #S10e88

NEW GRANT - Cobb & Kind #AAV Grant by SRF US & UK LinkedIn https://www.linkedin.com/feed/update/urn:li:activity:7016828620451053568 Twitter https://twitter.com/cureSYNGAP1/status/1611059709301362688 Facebook https://www.facebook.com/cureSYNGAP1/posts/pfbid02McP84y7CP3FuGVS9huTGmP7A5NBGr6AQn26pYih1y3WptpVuDkRD118V65NpMQrWl Announcement https://www.syngapresearchfund.org/post/pr-14-syngap-research-fund-u-s-and-syngap-research-fund-uk-award-grant-to-the-university-of-edinburgh-medical-schools-patrick-wild-centre-centre-for-discovery-brain-sciences #RAREAFFAIR #JPM23 WAS AWESOME - KAKIS FOCUSED ON BIOMARKERS https://www.linkedin.com/in/allyson-berent-36621523/ Saving Ryan - #BIOMARKER - BIOLOGICAL AND DIGITAL ARE NEEDED https://www.linkedin.com/posts/graglia_jpm2023-precisionmedicine-biotech-activity-7018331014909353984-NLLL GLOBAL #RAREBEARS FOR A KIDDO NEAR YEAR YOU https://www.rarescience.org/rare-science-partner/syngap1-research-fund/ #SYNGAP1 in BEYOND THE ION CHANNEL https://twitter.com/cureSYNGAP1/status/1611459555250311171 http://epilepsygenetics.net/2023/01/06/syngap1-three-things-to-know-in-2023/ #HELLERLAB FUNDED BY #MDBR FOR ANOTHER YEAR https://twitter.com/eahellerphd/status/1611414154946183169 #S10e14 https://www.youtube.com/watch?v=VpNJqjL0I-w #NOSPHARMA HAS #SYNGAP ON THE PIPELINE https://www.linkedin.com/posts/anmolsnagpal_nospharma-innovating-treatments-for-rare-activity-7017271522109083648-Oeip/ See #S10e75 https://www.youtube.com/watch?v=lWFLyqLLVQQ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 88 of #Syngap10 - January 10, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
Jan 10, 202312:30