Episodes

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

    Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160
    Feb 4 2025
    Tuesday, February 4, 2025 - Week 6 CONVO - Parent of 18 year old Travel now.Get meds under control fastDon’t do this aloneDon’t give up on the adultsFind 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 EPILEPSY Instagram - 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 CONFERENCE Pre-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
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    14 mins
  • Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159

    Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159
    Jan 28 2025
    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%2900007-1Correction 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. CONFERENCE Pre-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
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    14 mins
  • SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025

    SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 Wednesday, January 15, 2025
    Jan 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 NOW https://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
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    12 mins
  • 2025 is the year we double down on SYNGAP1. Tune in now. - #S10e157

    2025 is the year we double down on SYNGAP1. Tune in now. - #S10e157
    Jan 10 2025

    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 NOW Rochester, 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
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    12 mins
  • AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156

    AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156
    Dec 18 2024
    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-m0OVhttps://www.linkedin.com/posts/haley-tokars-1b2b38209_i-had-the-privilege-of-attending-my-first-activity-7272056324090159104-xFSZhttps://www.linkedin.com/posts/citizen-health-inc_aes2024-rareasone-activity-7270694148825845760-AIzFhttps://www.linkedin.com/posts/graglia_syngap-dreem-eeg-activity-7271993151131660288-GESy https://www.linkedin.com/posts/praxis-precision-medicines-inc_epilepsy-aes2024-ugcPost-7273392536130355200-x2pq https://www.linkedin.com/posts/syngap1-argentina-382156240_por-tercer-a%C3%B1o-consecutivo-syngap-argentina-activity-7271911668522098688-JlrWhttps://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-challengeFUNDRAISE 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
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    22 mins
  • Annie - #S10e155

    Annie - #S10e155
    Nov 26 2024
    Tuesday, November 26, 2024 Annie Passed yesterday #SynGAPAngel https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop SRF NEWS Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/New family video, use YouTube auto translate: Juliana Meza https://www.youtube.com/watch?v=NLkqswEvAQs Two trials to consider https://med.stanford.edu/autism/studies/pregnenolone-randomized-controlled-trial.html age 14-25https://deepdeestudy.com/ list of sites: NJ & FL Two studies we all need to sign up for Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/Citizen Health https://www.citizen.health/partners/srf Conference - Conference is 9 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $152,592 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/MintedFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT: Stephanie Decker https://www.linkedin.com/in/stefanie-decker-cpa-38776696/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,230 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,851 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,779 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 456 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 155 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    17 mins
  • Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

    Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154
    Nov 16 2024
    Friday, November 15, 2024 SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srfGrowing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie Decker!Newsletter #41 - https://Syngap.Fund/NL41 - About why we need a cure - quotes from our familiesWe're over 100 volunteer bios on the website! More being added every week! Great work Zoe! https://curesyngap1.org/team/Cafe SYNGAP1 e24 is up! Gloria Amparo Guzmán Cali, Colombia https://syngap.fund/Cafe 4MTx Announcement and direct impact on pipeline https://www.4mtx.net/news/4m-therapeutics-compounds-to-be-utilized-in-research-project-funded-by-national-institute-on-aging-bjebrhttps://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/Speaking of small molecules, get this on Ravicti https://www.medrxiv.org/content/10.1101/2024.11.06.24316676v2 RESEARCH UPDATE There are 306 papers on or related to SYNGAP1 since 1998, but 48 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Frazier! https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16112 Sign up for Frazier https://syngap.fund/eye2 https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ More Grants at work Science: Key Missense Webinar next week https://curesyngap1.org/resources/webinars/virtual-and-experimental-approaches-to-the-pathogenicity-of-syngap1-missense-mutations/New study at CHOP - Phenotype of the Hispanic SYNGAP1 Family. Details (English or Spanish) at https://Syngap.Fund/CHOPEspBower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCOThank you Corey Baysden for getting the Studies so well organized! https://curesyngap1.org/resources/studies/ Conference - Conference is 18 days away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner FUNDRAISING Coast2Coast Challenge $120,642 Syngap.Fund/C2C Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/MintedFUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ VOLUNTEER SPOTLIGHT:Amber Mickler https://www.linkedin.com/posts/amber-mickler-9b3534b8_syngap1-weneedacure-raredisease-activity-7263047283305320448-GpQK ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,220 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,847 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,815 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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 154 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    15 mins
  • Progress in Studies, Trials & Community Milestones; Conference #S10e153

    Progress in Studies, Trials & Community Milestones; Conference #S10e153
    Nov 2 2024
    STUDIES AND A TRIAL FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/ PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/ Science: Chow Press - https://curesyngap1.org/blog/dr-clement-chow-at-the-university-of-utah-receives-support-from-syngap-research-fund-srf-to-accelerate-therapeutic-development-for-syngap1-related-disorders-pr30/Sohal Webinar - https://curesyngap1.org/resources/webinars/94-targeting-gamma-oscillations-to-improve-cognition/ or https://fb.watch/vBYXj4FY7A/ Conference - Conference is 1 month away! Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267Friday Join us for dinner! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-caregiver-dinner RESEARCH UPDATE There are 304 papers on or related to SYNGAP1 since 1998, but 46 of those are in 2024! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded Latest is from Canada, where they look at the impact of SYNGAP1 on auditory cortex function, social behavior and ability to extinguish fear memories. https://www.jneurosci.org/content/early/2024/10/08/JNEUROSCI.0946-24.2024.long FUNDRAISING - Coast2Coast Challenge $92,754 Syngap.Fund/C2C - Missense Account of the Fund $25,940 https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund - Charmander $10,585 https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander - Emmy $8,347 https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research Minted Cards - 20% discount, 15% to SRF, code FUNDRAISESYNGAP - https://Syngap.Fund/Minted Lovely blog on Scramble: https://curesyngap1.org/blog/swinging-for-a-cause-the-3rd-annual-scramble-for-syngap1/ ZOOM BACKGROUND https://drive.google.com/file/d/13jhPIBo-o1sHchEJz6KttocT1_h7GKZE/view?usp=sharing VOLUNTEER https://curesyngap1.org/volunteer-with-srf/ FUNDRAISE https://syngap.fund/FR CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ SOCIAL MATTERS - 1,200 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,818 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,889 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 442 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 153 of #Syngap10 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
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    10 mins