137 episodes

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.

SynGAP10 weekly 10 minute updates on SYNGAP1 SYNGAP1 Podcasts by SRF

    • Business
    • 5.0 • 81 Ratings

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.

    • video
    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

    • 25 min
    • video
    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

    • 17 min
    • video
    #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:
    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

    • 19 min
    • video
    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:
    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

    • 35 min
    • video
    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

    • 13 min
    • video
    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

    TWO Gene therapy INDs approved in the past week!
    JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/
    ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/ 
     
    Mike’s Gene Therapy Cheat Sheet
    https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing 
     
    TAKE THE ROCHESTER SURVEY
    https://redcap.link/NDDCaregiverSurvey 
     
    SPRINT FOR SYNGAP24 is on!
    https://Syngap.Fund/Sprint24
     
    APARITO ANNOUNCEMENT
    LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/
    X - https://x.com/cureSYNGAP1/status/1751969751621046667
    FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl
     
    This is the program: https://www.aparito.com/patient-group-programme/
     
    RAVICTI GROUP
    https://www.facebook.com/groups/butyrate/
     
    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 132 of #Syngap10 - February 6, 2024
    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

    • 15 min

Customer Reviews

5.0 out of 5
81 Ratings

81 Ratings

Lakshmi Lanka Ma ,

This is quality

So much passion. Great resource.

fran chick ita ,

Amazing podcast for families

If you have a loved one with syngap1 you need to listen to this every week.

SYNGAP1 Bapa ,

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!

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