Episodios

  • It is time to get ready for clinical trials, this is how. #S10e202

    It is time to get ready for clinical trials, this is how. #S10e202
    Mar 26 2026
    Thursday, March 26, 2026 - Week 13 Thanks for NL50 Ed! cureSYNGAP1.org/NL50, I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen. SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS Stay Connected to CURE SYNGAP1. Fill in the Connect Form https://curesyngap1.org/connectHave an annual call with LaurenSubscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube Know your mutation, have your genetic report. Memorize it or get a tattoo.Sign up for our Natural History Studies. Looking forward: ProMMiS https://curesyngap1.org/prommis/ (Also helps you figure out travel)Looking back: Citizen Health https://www.citizen.health/ai-advocate/syngap1 Participate in Research, get your mutation affirmed and published. Join the CB BioRepository https://combinedbrain.org/roadshowGive samples early and often, like me last week: https://www.linkedin.com/posts/graglia_syngap1-syngap-ciliopathy-activity-7441907768468451328-xhzb Do Surveys Educate yourself, start with these two blogs. https://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossaryhttps://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know Extra Credit: Collect your EEGs. Get them from everywhere you have been (check Citizen to be sure)Keep them handy on a google drive… like this: https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=share_link Upload them to the CB EEG Repository. Email Lauren for info#S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123 Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help. #S10e SPRINT FOR SYNGAP1, EVERYWHERE – 29 days Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 63 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 191 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SYNGAP1 Awareness Must watch this episode of Kelly and Kyle. Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bones PUBMED Pubmed 2026 is at 18. Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,786 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,540 YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • We need to raise funds for the critical work of CURE SYNGAP1, join us with #Sprint4SYNGAP #S10e201

    We need to raise funds for the critical work of CURE SYNGAP1, join us with #Sprint4SYNGAP #S10e201
    Mar 6 2026
    Friday, March 6, 2026 - Week 10 WHAT DO WE NEED $ FOR? I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund. SPRINT FOR SYNGAP1 Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money. Get on the map! Text sprint26 to 71777 https://curesyngap1.org/calendar/sprint4syngap-2026/ INAUGURAL SF NIGHT OF IMPACT Also to raise funds, please join us in SF on May 28th. 83 DAYS. Thanks to the organizational team Justin, Zoe, Ed, Jessica, etc. cureSYNGAP1.org/SF26 NHS Matter I talked in episode 198 #S10e198 about the importance of natural history studies. Check out this paper on Zuvenersen from Dravet to understand the long-term impact these studies could have. https://www.nejm.org/doi/full/10.1056/NEJMoa2506295 Join ProMMiS and Citizen Health. SHOUTOUTS Rosie Davilla on Univision curesyngap1.org/rosie2026 - https://www.univision.com/local/dallas-kuvn/syngap1-el-diagnostico-que-cambio-la-vida-de-rosie-en-texas-video #RareDiseaseDay Talks Emily Barnes @ Quiver; Paulina and Brian Sheehan @ Third Rock; Mike @ SparkNS; John Hill & Allison CNBC Cures. Beata’s double header SYNGAP1 Stories. Part 1. https://curesyngap1.org/podcasts/syngap1-stories/beata-tarasiuk/ DSCIII In addition to Colorado Children’s & Stanford we are now in a study at Boston Children’s, Rush and U Alabama aka UAB. Attending kick off for this at the end of the month. DATES TO TRACK Scramble for Syngap - 5th annual on October 3 in S. Carolina in 211 DAYS cureSYNGAP1.org/Scramble26 Conference in Denver CO! 271 DAYS. Sponsorship options in our #Prospectus for industry are available here https://curesyngap1.org/prospectus Science Day - cureSYNGAP1.org/SD2025Videos Family Day - cureSYNGAP1.org/FD2025Videos See our entire library of webinars & videos on YouTube youtube.com/cureSYNGAP1 BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org PUBMED Pubmed 2026 is at 12, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Two particularly cool papers: HDAC Inhibitors https://pubmed.ncbi.nlm.nih.gov/41777621/ A positive missense causing cognitive resiliencehttps://pubmed.ncbi.nlm.nih.gov/41777621/ SOCIAL MATTERS 4,732 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,535 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.59 on 5 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 201 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • #RareDiseaseWeek! We are doing much beyond grants… too much. Get the Citizen Health App! #S10e200

    #RareDiseaseWeek! We are doing much beyond grants… too much. Get the Citizen Health App! #S10e200
    Feb 25 2026

    Wednesday, February 25, 2026 - Week 9

    Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ

    NATURAL HISTORY STUDY

    Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS

    And now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dva

    Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant projects.

    1. Fundraising
    2. Regulatory - Industry
    3. Regulatory - FDA
    4. Clinical Trial Readiness
    5. Standard of Care
    6. Patient Engagement
    7. Health Economics https://www.linkedin.com/posts/graglia_the-economic-impact-of-caregiving-for-individuals-activity-7431827551574011904-HvA4
    8. Global Coordination
    9. Next steps with NALL
    10. Patient Support
    11. Next steps with Nortriptyline

    BIOSAMPLES & EEGs!

    Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org

    FUNDRAISING - SPRINT4SYNGAP

    Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links:

    Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26

    Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26

    PUBMED

    Pubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18)

    SOCIAL MATTERS

    4,700 LinkedIn. https://www.linkedin.com/company/curesyngap1

    1,530 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1

    $CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

    Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • Support Clinical Trial Design for #SYNGAP1 via biobanks, EEGs and Fundraising. #S10e199

    Support Clinical Trial Design for #SYNGAP1 via biobanks, EEGs and Fundraising. #S10e199
    Feb 17 2026
    Tuesday, February 17, 2026 - Week 8 We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF. CLINICAL TRIAL DESIGN We are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-care Dravet or Angelman? Phase 1/2 is when we try it all. EEGs and NHS help with this effort. BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our CSO@curesyngap1.org. (Stay tuned for another exciting device study…) NATURAL HISTORY STUDY Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS NHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiS Latest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7t FUNDRAISING - SPRINT4SYNGAP Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links: set up your team - cureSYNGAP1.org/Sprint26 resource guide for your event - cureSYNGAP1.org/S4SGuide webinar #99 to help get you started - cureSYNGAP1.org/S4S25 Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26 Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18) Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIH ETC - More warriors cureSYNGAP1.org/Warrior - Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro - Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE SOCIAL MATTERS 4,686 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,520 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198

    All #SYNGAP1 Families need to take part in our Natural History Studies: ProMMiS & Citizen #S10e198
    Feb 6 2026

    Thursday, February 5, 2026 - Week 6

    Happy #RareDisease & #BlackHistory Month!

    #NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/

    Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free)

    Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS

    Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy

    Potential for being a control arm in the future.

    Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/

    Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1. Today, a 4 month old is going!

    CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4

    CHCO: 37 new, V2- 7

    Stanford: 8 new, V2- 2

    Total: 164 (double counting one family who goes to multiple sites)

    Survey

    English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS

    94 Responses to survey, so far:

    Why not? Did not receive an invitation, Too far to travel, Too expensive

    Barriers: Logistics, Cost, Time off, Behaviors, Insurance

    ETC.

    Pubmed 2026 is at 6! But will soon be 7 with the McKee paper!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood. The data and research we do with these samples is invaluable.

    May 28, San Francisco, CA: cureSYNGAP1.org/SF26

    SOCIAL MATTERS

    4,668 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,520 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

    Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • Funding Priorities. Biorepository. Genetic Testing. How to move for a clinical trail! #S10e197 Monday, February 2, 2026 - Week 6

    Funding Priorities. Biorepository. Genetic Testing. How to move for a clinical trail! #S10e197 Monday, February 2, 2026 - Week 6
    Feb 3 2026

    All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It's super important. Even if you haven't been there, we need your feedback.

    English: https://curesyngap1.org/SurveyProMMiS

    Spanish: https://curesyngap1.org/encuestaProMMiS

    Our funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK

    Pubmed 2026 is at 6!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    Coolest paper on Pubmed… GC rich areas were missed, so not only do we need to push for testing, but also REtesting.

    https://pubmed.ncbi.nlm.nih.gov/41577710/

    Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4

    Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBP

    Don’t move to or from US/EU/LatAm etc. This question keeps coming. Please stay where you are and advocate like crazy. Set up CURE SYNGAP1 [Your location]

    Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood. The data and research we do with these samples is invaluable.

    Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/

    May 28, San Francisco, CA: cureSYNGAP1.org/SF26

    SOCIAL MATTERS

    4,661 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,520 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

    Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • Stoke Tx shows us that ASO Clinical Development is accelerating. #S10e196

    Stoke Tx shows us that ASO Clinical Development is accelerating. #S10e196
    Jan 16 2026

    Friday, January 16, 2026 - Week 3

    Stoke Phase 3 Rapid Recruitment - A timeline that is ours to beat! https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-updates-timelines-completion

    If Marcin can make it from Poland, you can make it from where you are! cureSYNGAP1.org/Marcin

    CAMP4 Website is great and features Dani Williams! https://www.camp4tx.com/

    Newsletter is out! https://cureSYNGAP1.org/NL49

    Sara Driscoll Genetic Testing Story - Share it or copy it! https://cureSYNGAP1.org/GenTest

    Pubmed 2026 is at 3! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date

    SOCIAL MATTERS 4,604 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,510 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $5.78 on 15 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

    Episode 196 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m
  • SYNGAP1 Related Disorder (SRD) Key Talking Points & why we need to use them. #S10e195

    SYNGAP1 Related Disorder (SRD) Key Talking Points & why we need to use them. #S10e195
    Jan 11 2026

    Saturday, January 10, 2026 - Week 2

    Here are key talking points to reference when talking about SRD. Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing

    SOCIAL MATTERS

    4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,500 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/

    Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast
    Más Menos
    10 m