SynGAP10 weekly 10 minute updates on SYNGAP1 SYNGAP1 Podcasts by SRF
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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& advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.
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SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)SRF is the same:- Raise Funds to Change the Future- Volunteer, contribute to a larger effort- Connect with other families- Share our experience to make broader knowledge- Learn from each other and scientists
Raise Funds#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd - $197k, 521 donors - See you Saturday, enjoy it. - It’s a get to, people get to support our incredible efforts.
VolunteerACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez - State Reps - May 3rd! - Advocates - Jackie Kancir and Jess Johnson are killing it. - Many other roles - DEI too.
Connect with other Families - Jaxon Movie is up https://curesyngap1.org/resources/movies/ - Sprint events. Volunteer. Etc. - Hope drove across the country Fundraiser https://givebutter.com/zDUIfN Reel https://www.facebook.com/reel/421525020629131 Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28
Share our experience to make broader knowledge - FB: www.facebook.com/groups/syngap/ - CHOP is at 99! endd@chop.edu - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8
Learn from each other & scientists - https://curesyngap1.org/podcasts/cafe-syngap1/ - Coming soon: Missense Server is Awesome, Frogs too. - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/ - Remember new families have resources too! https://syngap.fund/Resources
I’m learning too! Just accepted to #LeadersLink of #FasterCures! - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures - X https://x.com/JMGraglia/status/1782778094589460812 - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX
SOCIAL MATTERS - 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1
Podcasts, give all of these a five star review!SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 139 of #Syngap10 - April 23, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1 -
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Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
TOGETHER WE ARE STRONGER
- 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/
- Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”
- Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001
WELCOME AND CONNECT
- New parents are coming fast, reach out to them, tell them how much hope to have.
- Connect, connect, connect.
- San Diego next week: https://curesyngap1.org/resources/movies/jaxon/
- Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
- TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo
TEAM IS GROWING
BOARD - https://www.eurekalert.org/news-releases/1038978
CSO - https://www.eurekalert.org/news-releases/1040061
COO - You?
PRESS
- UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/
- GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/
What does my genetic report mean?
We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower).
Who else has it? Look on ClinVar and call SRF.
Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/
STUDIES
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: ENDD@chop.edu
Adults:
- Press Release: https://www.eurekalert.org/news-releases/1040062
- Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24 39 and counting.
#Sprint4Syngap 2024
Total: $168,572 from 347 people
Tavilla: $126,385 from 62
Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
REPURPOSING
- NAL, blog coming.
- Ravicti, enrolled, and blog on Butyrate coming.
- Nortriptyline, has been game changing, discussing a larger trial.
REFLECTIONS
- Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
- Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
- Tony update. Grateful and grieving.
SOCIAL MATTERS
967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/
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/id6464522917
Episode 138 of #Syngap10 - April 4, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1 -
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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 -
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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 -
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#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:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/
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.)
- MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/
- S.Carolina3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/
- 3rd SYNGAP1 Conference, hosted by SRF in LA
- Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
- Planning committee needs volu -
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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:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - Need to have a webinar on this.
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
Ed said:
Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories
Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe
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/ (9 teams signed up as of 2/23 - we had 28 teams in 2023;)
Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)
Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);
Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F).
SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf
SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ
Addison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/
We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/
Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20
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/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources
State Advocates - help families in your sta
Customer Reviews
This is quality
So much passion. Great resource.
Amazing podcast for families
If you have a loved one with syngap1 you need to listen to this every week.
Passion and Compassion!
Every episode is full of the latest news, important studies, exciting events, incredible volunteers, and of course wonderful Warriors. I look forward to every episode!