SynGAP10 weekly 10 minute updates on SYNGAP1

SYNGAP1 Podcasts by SRF
  • 5.0 (83)
  • NON-PROFIT
  • UPDATED WEEKLY
SynGAP10 weekly 10 minute updates on SYNGAP1

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.

  1. 6D AGO · VIDEO

    RDD25 - Federal Funding - Hope vs Despair? Disability is Political. Take it or Advocate? #S10e163

    Friday, February 28, 2025 - Week 9   Hope vs. Despair?   Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share  FDA Staffing Cutshttps://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/ Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612 President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/ DOGE head who also doesn’t care https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/   Hope: Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Community https://curesyngap1.org/team/ Global: https://syngapglobal.net/ ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes    Disability is Political   Take it or Advocate?   Taking it does not work.     Advocate: SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/ ELF https://everylifefoundation.org/ Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/  Alliance for a Stronger FDA https://www.strengthenfda.org/  Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/    Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391    Responsibility to those who cannot or will not be here.  10% of Americans.  10k diseases, all chronic.  Childhood.  Do not have FDA approved treatments, no cures.  Staggering Financial Costs aka Toxicities.  Efforts to date have allowed for interventions that may still matter.  We have invested so much.     Episode 163 of #Syngap10  #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

    26 min

  2. FEB 25 · VIDEO

    We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162

    We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET -  #S10e162 Tuesday, February 25, 2025 - Week 9   ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS    SPRINT4SYNGAP - April 26, 2025 Webinar: cureSYNGAP1.org/S4S25 Guide: cureSYNGAP1.org/S4SGuide   LEVERAGE ON OUR GRANTS #Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE   STUDY OF THE WEEK - Email syngap-study@beacon.bio Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/    Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    IMPACT REPORT NL43 cureSYNGAP1.org/NL43    ONLINE DID YOU KNOW We have a calendar now! https://curesyngap1.org/calendar/ Brochure is updated: cureSYNGAP1.org/Brochure  YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2    COMPANY OF THE WEEK - Stoke & Biogen! STK ($0.45Bn) partners with BIIB ($20.5Bn) https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and   #SpecialNeedsTRAVEL e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories  Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V   RESEARCH UPDATE There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 10 (Coller included) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290   VOLUNTEER SPOTLIGHT Toby and John Brimsek are tireless.  Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full   SOCIAL MATTERS - 3,937 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1.28k YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11.5k Twitter https://twitter.com/cureSYNGAP1 - 46.6k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 162 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    18 min

  3. FEB 12 · VIDEO

    Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161

    Tuesday, February 11, 2025 - Week 7   IMPACT REPORT IS OUT! Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/ Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/   STUDIES OF THE WEEK - BEACON DREEM https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/   COLORADO CHILDREN'S HOSPITAL - April & May https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/   STANFORD ARTICLE ON SYNGAP1 SEIZURES https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/  Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175  LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke   Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul    RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 8 (but reall 9 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability https://link.springer.com/article/10.1007/s10803-023-06162-9 ADVOCACY SHOUT OUT Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/   Learn from the greats: April 8 & 9 at St. Jude online https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111    IN THE NEWS - Terry P on Kelly Clarkson Show https://www.youtube.com/watch?v=yLcm0KcgZyc   FUNDRAISING MATTERS Aaron: https://giving.classy.org/campaign/661441/donate You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,925 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,512 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 161 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    16 min

  4. FEB 4 · VIDEO

    Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160

    Tuesday, February 4, 2025 - Week 6   CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find doctors who want to learn and think, not dictate.   STUDIES OF THE WEEK - FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Don’t underestimate this tool, please take part in this study.   Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    ADVOCACY SHOUT OUT https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios   REGULATORY UPDATE - Feb 4 at 4PM EST. https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy   EF on EPILEPSYInstagram - Facebook - LinkedIn - X   RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 7 (but really 8 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded   James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/ JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/   VOLUNTEER SPOTLIGHT Aaron Harding is tireless  Donate: https://giving.classy.org/campaign/661441/donate Video - https://youtu.be/7LprhkhyU5I   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,550 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 160 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    14 min

  5. JAN 28 · VIDEO

    Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

    Tuesday, January 28, 2025 - Week 5   STUDIES OF THE WEEK - ROCHESTER 3 We need 3 more 0-2 Year olds. https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/   NYU - CureSYNGAP1.org/NYU https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/   Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing    STUDY HUDDLE on THURSDAY! 1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU   COMPANY OF THE WEEK - Minovacca SRF put Neuro on their radar and now they are building a company.   https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery   Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/   REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html   PATIENT ENGAGEMENT IMPROVES OUTCOMES https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/   RESEARCH UPDATE There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 4 (but really 5 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/ Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1 Correction on China census paper, it was a review, we will not up the census. Note: Coller began working on SYNGAP1 with SRF support in 2022!  See https://www.eurekalert.org/news-releases/966873   VOLUNTEER SPOTLIGHT Deanna N. Rorie nee Farley.  Longest running SRF Volunteer ever.  Big thanks for all the Warriors.   CONFERENCEPre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25  VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/- 1,270 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 11,565 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 159 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    14 min

  6. JAN 15 · VIDEO

    SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

    RESEARCH UPDATE There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 2 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded   Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246! Check out these social posts on our https://cureSYNGAP1.org/SRFPaper  https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ https://x.com/cureSYNGAP1/status/1879272983077781804 https://fb.watch/x6KdWuLSA8/   STUDIES AND TRIALS ARE HAPPENING NOWhttps://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $359,280 Syngap.Fund/C2C  FUNDRAISE https://syngap.fund/FR  #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025   VOLUNTEER SPOTLIGHT Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/   CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25    VOLUNTEER  Join us: https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 1,260 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,906 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,670 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources  Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 158 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    12 min

  7. JAN 10 · VIDEO

    2025 is the year we double down on SYNGAP1.  Tune in now. -  #S10e157

    Friday, January 10, 2025 NEWS Census = 1,530! https://cureSYNGAP1.org/Census https://cureSYNGAP1.org/NL42 All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24 Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/   AES JW - Everybody who was at AES felt the temperature change. Things are getting real and timelines are moving faster. Our job now is to convince donors that we need more fuel in the tank so we don’t miss opportunities indicative in families that this is no longer one day, but this is soon and they need to get ready. Veronica Hood: “Disease Modification is on the Horizon for DS” (and the rest of us!) https://dravetfoundation.org/spotlight-on-dravet-insights-from-the-2024-american-epilepsy-society-meeting/   STUDIES AND TRIALS ARE HAPPENING NOWRochester, Eye Tracking, Sleep.  Please sign up via link below and listen this from Peter: https://x.com/phalliburton/status/1873581064788336988 then start signing up…https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $338,280 Syngap.Fund/C2C  FUNDRAISE https://syngap.fund/FR  Go Nikolas! $3,780  https://secure.givelively.org/donate/syngap-research-fund-incorporated/nikola-s-fundraiser #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025   VOLUNTEER SPOTLIGHT:  Ed Gabler https://curesyngap1.org/team/leadership-team/ed-gabler/   RESEARCH UPDATE There are 312 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 0 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded   CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25    VOLUNTEER  https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 1,250 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,899 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,688 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 157 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    12 min

  8. 12/18/2024 · VIDEO

    AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

    Tuesday, December 17, 2024   Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Summary: http://www.draccon.com/dracaena-report/2024aes A few comments: https://www.linkedin.com/posts/richardnovak_clinical-rare-activity-7270806450090786816-m0OV https://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZ https://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzF https://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESyhttps://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pqhttps://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrW https://www.linkedin.com/posts/stoke-therapeutics_aes2024-epilepsy-activity-7273445932107538433-akYf Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25,    https://investor.stoketherapeutics.com/events/event-details/understanding-dravet-syndrome-unmet-need-and-potential-disease-modification STUDIES AND TRIALS ARE HAPPENING NOW - https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25 https://deepdeestudy.com/ list of sites: NJ & FL   BONES https://youtu.be/RhaJnruZCzk?si=bnPtYPsRhOChfsH0  https://curesyngap1.org/blog/navigating-a-lifetime-of-diagnoses-michaels-syngap1-journey-and-the-effects-of-anti-seizure-medications-on-bone-density/   FUNDRAISING Coast2Coast Challenge $207,974 Syngap.Fund/C2C  Join my team! https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge FUNDRAISE https://syngap.fund/FR  CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/   VOLUNTEER SPOTLIGHT:  Stacey Miller https://curesyngap1.org/team/leadership-team/stacey-miller/ Laura Bermingham of SLC6A1 https://curesyngap1.org/team/volunteers/laura-birmingham/    RESEARCH UPDATE There are 310 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest are from Willsey & Frazier. Willsey: https://www.biorxiv.org/content/10.1101/2024.12.05.626924v1 Frazier: https://onlinelibrary.wiley.com/doi/full/10.1002/aur.3290   VOLUNTEER  https://curesyngap1.org/volunteer-with-srf/   SOCIAL MATTERS - 1,240 YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,883 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 11,739 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/  - 464 TikTok https://www.tiktok.com/@curesyngap1   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources    Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 156 of #Syngap10  #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

    22 min
See All (163)

5
out of 5
83 Ratings

About

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.

Information

More From SYNGAP1 Podcasts by SRF

You Might Also Like

To listen to explicit episodes, sign in.

Stay up to date with this show

Sign in or sign up to follow shows, save episodes, and get the latest updates.
Select a country or region

Africa, Middle East, and India

Asia Pacific

Europe

Latin America and the Caribbean

The United States and Canada