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  • Progress in Studies, Trials & Community Milestones; Conference #S10e153

    Progress in Studies, Trials & Community Milestones; Conference #S10e153

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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/id6464522917Episode 153 of #Syngap10

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

    The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Tuesday, October 22, 2024

    First Principles

    Genetic disease means that gene broken since conception.Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation.These are delivered via spinal tap or directly to the brain in leading medical centers.First though, regulators must approve.

    Our job

    Develop medicines or get industry to - This is happening see PipelineGet regulators to approve trialsGet medical centers up to speed on SYNGAP1-Related Disorders (SRD)

    What we are building on

    CHOP ENDD funded externally (see #S10e92) and replicating what was built for STXBP1, check last week’s webinar https://curesyngap1.org/resources/webinars/93-endd-chop-2024-syngap1/Rare-X platform for PRO collectionRegulatory pathway being made clearer every day by Stoke (Dravet), Praxis (SCN2A), Ionis (many) all of whom are working on SYNGAP1 as well.

    What we are asking for

    We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)Make your largest gift ever to SRFFundraise with friends and familyACES is now ProMMiS, who knew ACE meant Adverse Childhood Event, not us.

    Key slides: S1 Path to Treatment | 2024 (09.27.24)

    1. Why Now? Why is it time to go from bench to bedside (research to clinical)?At least 10 companies on our pipeline not to mention multiple small molecule effortsWe have limited resources – so the focus has to transition, clinical funding first.CHOP Gift is 1 year down…2. Why NHS?Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 FYI at CHOP, as I shared in #S10e151, at year 1, we are at – 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) Learn what to measure in clinical trials for SRD, remember our seizures are challengingIdeally we develop a Synthetic Control Arm if we use GCPWhy top shelf? We need institutions the FDA will take seriously and our children are very complex requiring experienced clinicians. 3. Why Multidisciplinary.Neuro, Psych, Genetics, PT, ST, OT, GI, Sleep, ENT, Ortho.Beyond the sheer burden of getting our kids out and about for multiple appointments the coordination by a parent is almost impossible.4. Why Multisite/3 sites?Replicable/scalable required by regulatorsAccessibility (not primary reason)Establish more locations where trials will be managedLaying a foundation for a national self-sustaining network3 is the minimum, look at STARR or Angelman, both had/ve 4.5. How and why so fast?Because we can. Time is Brain.Following a well trodden pathSMA, Rett, Angelman, Dravet, but we are moving FASTER.6. Does the industry really care?We are next there are so so many behind us, eager to take the resources we have access to today.Market size (Per our Census 425 US/1500 global is tip of iceberg)Multiple players reassuring each otherRelatively strong amount of scientific and clinical researchHaploinsufficiency (like Dravet – STOKE) – so relatively easy7. Expensive?No. Clinical Research is more expensive than basic scientific research.Leveraging CHOP and Rare-X, setting up required networks to prepare for clinical trials. It’s time.8. Why Bother/Help?Now is the time for SYNGAP1, we miss it at our peril.Sure, once in these places we will still see our patients, but the study, the support and the focus may pass.Our kids don’t die, regardless of patient age, what we are doing can change their future and that of their loved ones and caregivers.If not us, then who? It is a rare exception when a non-family member gives a gift, and it is always because a family member asked. We must ask.9. What can I do?Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical$500k goal by end of 2024; more than $1M needed just for the SYNGAP1ProMMiS. So far, donations from $25 to $25,000 – each and every contribution matters.This requires our entire S1 network to solicit family, friends, work colleagues, companies, etc. to contribute. Many causes out there – why not ours?Syngap.Fund/C2C

    https://Syngap.Fund/C2C > https://secure.givelively.org/donate/syngap-research-fund-incorporated/coast2coast-clinics-challenge

    Two teams:

    https://Syngap.Fund/West & https://Syngap.Fund/East

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  • Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

    Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

    Census is at 1,497! Syngap.Fund/Census

    Fundraising Season! Gala is tonight in NJ! Syngap.Fund/CLG4 #NLKrox

    - UFD Tech, $52,094

    - Scramble, $28,000

    Current Efforts:

    - Coast2Coast Challenge $42,691 Syngap.Fund/C2C

    - Missense Account of the Fund $23,684

    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 $8,173

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    ONLINE SHOPPINGS

    EBay - We have an eBay shop sell for SRF! https://charity.ebay.com/charity/i/SynGAP-Research-Fund--Inc-/171038

    Amazon - https://curesyngap1.org/blog/srf-amazon-storefront-to-cure-syngap1/

    FRAZIER STUDY - Half enrolled!

    https://Syngap.Fund/Eye2 [email protected]

    CHOP is 1!

    - 86 (Visits) + 10 (new scheduled) + 19 (2nd) + 4 (3rd) + 22 (follow up) = DATA

    - https://x.com/cureSYNGAP1/status/1843684785740255303

    School and Behaviour

    Go Elle! https://www.govtech.com/education/k-12/special-education-desperate-for-support-amid-severe-behaviorsDo you have an advocate and a lawyer? I just got an email from an advocate. We need to do a webinar with Jackie, Nancy, Elle and others. #NLKrox

    On the site

    Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffectSyngap.Fund/Sibling with the inaugural issue from Nancy #NLKrox Syngap.Fund/InsWin Insurance with Sara Driscoll

    Vicky & Merlina are unstoppable

    SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18WColombia Meeting: https://www.linkedin.com/posts/victoria-arteaga-26913433_raredisease-patientsfirst-collaboration-activity-7246975509358612480-InHP Cafe SYNGAP1 is up to 20! Syngap.Fund/Cafe

    Conference - Conference is 47 days away

    Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srfBook a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A

    Industry News - Lundbeck is back into the rare epilepsy space through the acquisition of Longboard for the drug bexicaserin

    https://www.linkedin.com/posts/anamingorance_lundbeck-signs-25b-check-for-longboard-activity-7251598931069960192-ytkb

    MNDU3 re https://pubmed.ncbi.nlm.nih.gov/38967915/ https://www.biospace.com/drug-development/7-children-receiving-bluebirds-gene-therapy-developed-blood-cancers-study

    RESEARCH UPDATE

    There are 303 papers on or related to SYNGAP1 since 1998, but 45 of those are in 2024!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    So much to note, Bateup and Silverman with mice, Vanderhaeghen on SRGAP-2, CHOP on EEG…

    https://www.cell.com/neuron/fulltext/S0896-6273(24)00645-7

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 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!

    SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 151 of #Syngap10 - Friday, October 18th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150

    📝Full show notes: https://curesyngap1.org/podcasts/syngap10/

    FRAZIER STUDY

    https://Syngap.Fund/Eye2 [email protected]

    Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914

    SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing

    We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/

    Chronic Grief

    Al Freedman https://www.linkedin.com/posts/graglia_activity-7240740334329102336-hidL/Short: https://www.youtube.com/watch?v=Y_5UlBQVe2w

    Conference - Conference is 72 days away

    Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/Register now - https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srfBook a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-ASponsor alongside Jones, Wieczrek and Graglia.

    PR out this week

    Lacoste (https://Syngap.Fund/PR28)https://curesyngap1.org/blog/dr-baptiste-lacoste-receives-syngap-research-fund-grant-for-research-on-vascular-and-metabolic-dysfunction-in-syngap1-related-disorders-pr28/Devinsky (https://Syngap.Fund/PR29)https://curesyngap1.org/blog/six-patient-advocacy-groups-collaborate-to-co-fund-a-single-center-observational-study-of-seizure-types-in-rare-genetic-epilepsies-pr29/

    UFD Tech Cure Stream - 6 days + 21 hours of live-streaming from Pittsburgh!

    September 23 3:00 Eastern to Sept 30 noon. https://www.justgiving.com/page/ufd-2024https://www.youtube.com/watch?v=DtOyV2FNJ-s

    PRESS ABOUT FOF (Friends of the Fund)

    Stoke: https://www.businesswire.com/news/home/20240910810707/en/Stoke-Therapeutics-Presents-Zorevunersen-Data-Showing-Substantial-Reductions-in-Seizures-and-Improvements-in-Multiple-Measures-of-Cognition-and-Behavior-That-Support-the-Potential-for-Disease-Modification-in-Dravet-Syndrome

    RESEARCH UPDATE

    There are 297 papers on or related to SYNGAP1 since 1998, but 37 of those are in 2024! Now tied for 2nd place with 2009, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Three papers to note:

    Missense Server Case Study: https://academic.oup.com/bib/article/25/6/bbae458/7765456?login=falseRat GAP Paper: https://www.cell.com/cell-reports/fulltext/S2211-1247(24)01084-2

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats! CFC: #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    Scramble for Syngap - 11 days! - October 5, Greer, South Carolina over $20k https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

    SynGAP Research Fund Gala - 24 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $23,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $8,173

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    Charmander $5,303

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,140 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,789 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,736 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 439 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!

    SRF Apple Podcast Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 150 of #Syngap10 - Tuesday, September 24th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

    Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n149

    FRAZIER STUDY

    https://Syngap.Fund/Eye2 [email protected]

    SRD JOINS CFC #33321

    https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/

    PRESS ABOUT FOF (Friends of the Fund)

    Praxis https://firstwordpharma.com/story/5891543

    Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-repurposed-therapies-for-syngap1-related-disorders-pr27/

    RESEARCH UPDATE

    There are 295 papers on or related to SYNGAP1 since 1998, but 35 of those are in 2024! Now in 3rd place, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Three papers to note:

    Humanized Mouse from Penn: https://pubmed.ncbi.nlm.nih.gov/39229131/Behavioral Phenotype from Hopkins: https://pubmed.ncbi.nlm.nih.gov/38783394/Catatonia: https://pubmed.ncbi.nlm.nih.gov/39235394/ also on https://www.medrxiv.org/content/10.1101/2024.09.05.24312724v1 for meds for Profound Autism. Recent talk: https://www.youtube.com/watch?v=JiOSKanKRfE

    CHRONIC GRIEF

    We have to talk about this. We all need support. Pretending this isn’t happening is a disservice to ourselves, our kids and our families.

    VOLUNTEER

    https://curesyngap1.org/volunteer-with-srf/

    FUNDRAISE

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/ now including a webinar from the greats!

    Smarts for Syngap - DC Trivia Night - Congratulations

    Scramble for Syngap - 26 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    TV! https://www.wspa.com/your-carolina/scramble-for-syngap/

    SynGAP Research Fund Gala - 39 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $23,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $8,147

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    Charmander $5,150

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/running-for-charmander

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 87 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 89 for Science Day & 88 for Family Day (incl 19 patients)

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,090 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,765 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,600 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 429 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!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 149 of #Syngap10 - Monday, September 9th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

    Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n148

    BACK TO SCHOOL 2024

    Push the schools to do better, at every turn.

    Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia

    STUDY

    https://Syngap.Fund/UB (Unravel Biosciences)3 forms to fill out, please let us know if you want to participate.

    PRESIDENT & COO SEARCH

    https://curesyngap1.org/blog/srf-is-hiring-position-of-president-chief-operating-officer-coo/

    RESEARCH UPDATE

    There are 293 papers on or related to SYNGAP1 since 1998, but 33 of those are in 2024! Tied for 3rd place, but this year will be over 43, I’m certain.

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2024&sort=pubdate&timeline=expanded

    Latest: GOS UK team calls for more OT and ST vs other patients with DD/ID

    https://pubmed.ncbi.nlm.nih.gov/39148034/

    PRESS ABOUT FOF (Friends of the Fund)

    Fondo joins FECOR -

    ​​https://www.instagram.com/p/C-8dJG7vEDd/?igsh=ZmYxYjQzMm43aHlp&img_index=1

    JW - https://www.latimes.com/socal/daily-pilot/news/story/2024-08-02/newport-beach-family-seeks-to-ensure-rare-disease-funding-continues

    TJB -

    X https://x.com/JMGraglia/status/1825949467973136804L

    https://www.linkedin.com/posts/graglia_how-a-midwife-became-a-neuroscientist-to-activity-7231714648767479808-k13w?utm_source=share&utm_medium=member_desktopF https://www.facebook.com/mike.graglia/posts/pfbid02UjRLWVQRzrD6j3YngnJx1R49cUBb188zKsxauvanSaZnAh7pW6UQntQB7QKFKqSwl

    VOLUNTEER NEEDS

    Thank you Grants, Aaron & Sarah

    Fundraising and FinanceVolunteer! https://curesyngap1.org/volunteer-with-srf/

    https://syngap.fund/FR - https://curesyngap1.org/srf-fundraising-resources/

    Smarts for Syngap - DC Trivia Night - 14 Days - September 4, 2024

    Scramble for Syngap - 45 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    SynGAP Research Fund Gala - 59 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $21,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $6,549

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 106 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 57 for Science Day & 66 for Family Day

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,744 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,375 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 420 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!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 148 of #Syngap10 - Wednesday, August 21th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

    #SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n147

    FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24

    SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing.

    https://curesyngap1.org/team/leadership-team/jackie-kancir/

    ADULT ADVOCACY

    SRF & UBC: https://curesyngap1.org/adults-with-syngap1-caregiver-resources/ also /Adult

    Interview: https://www.youtube.com/watch?v=JDiD8Z3lWQkFoundation: https://colinfarrellfoundation.org/

    WaPo Article: https://www.washingtonpost.com/health/2024/08/08/what-is-angelman-syndrome-colin-farrell-son/

    LEVERAGE PARTNERS

    https://globalgenes.org/blog/global-genes-sweet-16th-birthday-success-stories/

    Go to GG Rare Advocacy Summit Sept 26 & 27. https://globalgenes.org/week-in-rare/

    SCIENCE TEAM

    PROJECT ACES - Accelerating Clinical Excellence for SRD - CHCO & Data

    PROJECT SBOM - SYNGAP1 Biomarker & Outcome Measures - Analysis

    PROJECT SMART - SYNGAP1 Missense Analysis Research & Therapeutics - In flight

    PROJECT PURPOSE - Repurposing - Ravicti, NAL, Nortriptyline - Unravel

    PROJECT FACILITATE - Tools and Reagents - Mice work in flight

    RESEARCH UPDATE

    There are 292 papers on or related to SYNGAP1 since 1998, but 32 of those are in 2024! We are more than on track to set a record this year with the biggest annual output being in 2023 with 43 papers. I’ve seen multiple papers being submitted lately, it’a actually hard to keep up. LINK

    LATEST PAPER: https://www.eurekalert.org/news-releases/1053579

    WEBINAR: https://curesyngap1.org/resources/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development/

    FUNDRAISERS!

    Go Australia! https://www.theland.com.au/story/8704556/support-syngap1-research-win-a-toyota-hilux-sr5/

    3 state advocates on website & 17 ambassadors with more coming - still need volunteers for many states! Contact Jackie (Adv) or Corey (Amb)

    Smarts for Syngap - DC Trivia Night - 24 Days!

    Scramble for Syngap - 55 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    SynGAP Research Fund Gala - 68 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $21,684

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $6,449

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 116 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    Conference Registration - 44 for Science Day (36 caregivers) & 52 for Family Day (36 caregivers, 13 kids/sibs)

    CB Blood Donation accelerates Science! These samples are being used today!

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,070 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,713 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,168 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 418 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!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

    Cafe Syngap1 #17

    https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525?i=1000664777811Episode 147 of #Syngap10 - Sunday, August 11th, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

    Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n146

    Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110

    Newsletter #39 - syngap.fund/NL39

    https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566

    Cafe Syngap16

    https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/

    Zempleni Grant

    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/

    Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC

    Webinar: https://curesyngap1.org/resources/webinars/91-syngap1-natural-history-study-at-childrens-hospital-colorado/

    Will not collect for biobank!

    Top 5 from Abbott webinar:

    Colorado seeing less patients than CHOP, but could see more if the interest raises. Wherever you are, get to a site. The more data you have, the more industry interest. This is a partnership between CHOP & CHCO. Data will be shared across all sites. Very good for SYNGAP1 research.Model successful with other rares, ie CDKL5 and STXBP1.Visit info: CHCO visits are split over 2 days. Visits will include behavioral support with neuropsych. Multidiciplinary clinic space itself is really nice and well-planned.SRF board approved travel reimbursement.

    Dinner on Saturday, talk to Lauren

    To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected].

    FUNDRAISERS!

    Scramble for Syngap - 70 days! - October 5, Greer, South Carolina https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2024/

    SynGAP Research Fund Gala - 83 days! - October 18, Farmingdale, NJ https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/

    Missense Account of the Fund $21,534

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $5,799

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Conference is 131 days away, WE HAVE A ROOMBLOCK & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    CB Blood Donation accelerates Science! These samples are being used today!

    Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

    HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    https://curesyngap1.org/resources/studies/combinedbrain-biorepository-roadshow-2024

    Hi Zoe! Do you have LGS?

    Harmony Biosciences bought Epigenyx

    https://www.prnewswire.com/news-releases/harmony-biosciences-acquires-epygenix-therapeutics-inc-adding-late-stage-epilepsy-franchise-to-growing-pipeline-of-innovative-cns-assets-302131000.html

    This write is a bit incomplete as it just says 5-HT2, which is a just receptor family:

    5-HT2A

    5-HT2B - this the receptor linked to cardiac. Fenfluramine, a nonselective serotonin-releasing agent, its adverse effects were linked to activating this receptor

    5-HT2C - bexicasarin selectively activates this.

    SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,060 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,703 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,016 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 417 TikTok https://www.tiktok.com/@curesyngap1

    Here is a way to use it #SyngapSeizure

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 146 of #Syngap10 - July 27, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145

    A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n145

    2020 COBA GRANT

    https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/

    SYNGAP.FUND/IPSC > https://curesyngap1.org/ips-cell-models/

    2022 QUADRATO GRANT & 2022/3 PAPER

    MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full

    SRF PR: https://www.eurekalert.org/news-releases/1050685

    2022 ANDERSON GRANT & 2024 PAPER

    Webinar: https://curesyngap1.org/resources/webinars/evaluation-of-a-stem-cell-gene-therapy-approach-for-syngap1/

    Announcement: https://www.linkedin.com/posts/curesyngap1_syngap1-srfresearch-stemcelltherapy-activity-7215557722614743041-rxOV

    Angelman: https://pubmed.ncbi.nlm.nih.gov/33856035/

    Transformatx Biotheraputics LLC:

    https://cureangelman.org/fast-announces-formation-of-lentiviral-gene-therapy-company

    MNDU3: https://www.fiercepharma.com/pharma/fda-wants-classwide-boxed-warning-all-commercial-car-t-therapies-amid-secondary-cancer

    TAKEAWAY: Focus on the clinic, and let the best therapy win.

    CLINICAL NETWORK / NHS UPDATE

    COLORADO webinar postponed, still register, we will notify you via email of the new date. https://syngap.fund/Abbott

    To sign up for the Colorado clinic please contact SRF Ops Manager, Lauren Perry, [email protected].

    CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

    https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

    FUNDRAISING

    Missense Account of the Fund $10k+

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/missense-fund

    Emmy $5k+

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    CALENDAR MANAGEMENT

    Rare Across America is 24 days away, registration ends in 10 days!

    https://everylifefoundation.org/rare-advocates/rare-across-america/

    Conference is 146 days away & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    CB Blood Donation accelerates Science!

    STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

    Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

    HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,050 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,685 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,724 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 145 of #Syngap10 - July 11, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • 1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

    1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n144

    CENSUS = 1,454

    https://curesyngap1.org/how-many-people-have-syngap1-census/

    STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024

    FUNDRAISING

    Missense Account of the Fund

    https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYEExplainer - https://www.youtube.com/watch?v=C9bGOA2MFHc

    Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/

    Emmy

    https://secure.givelively.org/donate/syngap-research-fund-incorporated/save-emmy-s-future-fund-syngap1-research

    YOU?

    https://curesyngap1.org/blog/fundraising-the-backbone-of-research/

    PHARMA

    https://www.longboardpharma.com/

    http://longboardpharma.gcs-web.com/news-releases/news-release-details/longboard-pharmaceuticals-receives-breakthrough-therapy

    CIRM

    Petition - https://www.linkedin.com/feed/update/urn:li:activity:7210079591275626497

    Post - https://www.linkedin.com/posts/nashafitter_rareasone-activity-7212446744511414272-B8qx

    Talk - https://david293.substack.com/p/text-of-comments-by-mike-graglia

    HOPE - Caring for your SYNGAPian

    Rainy’s drive - https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/

    My visit - https://www.facebook.com/permalink.php?story_fbid=pfbid0SFg2Mx8jxkS8oeStYn5yqEhYgWVAhhQeX8WiSGQqhPcxpTgtyG1TtbaPMBMTAmVGl&id=100088305909698

    Keto is powerful, and tricky https://curesyngap1.org/resources/webinars/keto-mad-syngap-parents-experience-syngap1/

    Heat is not good - We need a blog here…

    Adenoids and tonsils are an issue - https://curesyngap1.org/blog/syngap-sleep-you-could-be-one-more-test-away-from-helping-your-syngapian-thrive/

    CLINICAL NETWORK / NHS UPDATE

    COLORADO webinar next week! https://syngap.fund/Abbott

    July 11, 2024 at 9 Pacific.

    CALIFORNIA SYNAPTOPATHY CLINIC (CSC) starting to see patients, if you are in CA call them.

    https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/

    CALENDAR MANAGEMENT

    Rare Across America is 34 days away, registration ends in 10 days!

    https://everylifefoundation.org/rare-advocates/rare-across-america/

    Conference is 156 days away & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    SHOUTOUTS

    JACKIE NEW ED OF NCSA

    https://www.ncsautism.org/blog/ed

    Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey…

    CB Blood Donation accelerates Science!

    STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

    Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

    HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,040 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 10,659 Twitter https://twitter.com/cureSYNGAP1 - 48k Insta https://www.instagram.com/curesyngap1/ - 415 TikTok https://www.tiktok.com/@curesyngap1

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 144 of #Syngap10 - July 2, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143

    Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    📝Full show notes: https://syngap.fund/n143

    BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp

    GRANTS APPROVED

    Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!FUNDRAISING

    - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!

    - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.

    NHS UPDATE

    Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice.

    CHATS WITH INDUSTRY

    Prevalence:

    They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+

    1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.

    5/100k = 180. A YEAR.

    Caren is 65.

    36 x 65 = 2,340 PTVs vs 400 SRF knows about)

    https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/

    CALENDAR MANAGEMENT

    Rare Across America is 28 days away, register now:

    https://everylifefoundation.org/rare-advocates/rare-across-america/

    Conference is 170 days away & Registration is live!

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf

    CB Blood Donation accelerates Science!

    STXBP1 conference (Philadelphia, PA, July 19-21, 2024)

    Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)

    HNRNPH2 conference (Seattle, WA, July 29-30, 2024)

    PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)

    COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)

    SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)

    SHOUTOUTS

    - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/

    - We need a Pavel award.

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,030 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 10,421 Twitter https://twitter.com/cureSYNGAP1

    - 3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 143 of #Syngap10 - June 18, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142

    NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Full show notes: https://syngap.fund/n142

    BIG NHS UPDATE

    66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled.

    Colorado should start seeing patients in August!

    WHERE TO DONATE

    MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite

    BLOOD: June 7 & 8, Loews Coronado Bay Resort, email [email protected] TIME TO JOIN #TEAMSRF

    - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community

    - https://curesyngap1.org/volunteer-with-srf/

    CHATS WITH INDUSTRY

    - Is IT delivery a blocker for precision therapies, NO!

    - 2026 is feeling like the earliest we see trials.

    - BIO with Kathryn next week!

    CALENDAR MANAGEMENT

    Rare Across America is 66 days away, register now:

    https://everylifefoundation.org/rare-advocates/rare-across-america/

    Conference is 188 days away:

    https://curesyngap1.org/events/conferences/syngap1-conference-2024/

    PUBLICATION ALERT

    https://x.com/cureSYNGAP1/status/1795837761678962799

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,020 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 10,000 Twitter https://twitter.com/cureSYNGAP1

    - 3,591 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

    SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    JOIN SRF LT on Thursday:

    Volunteer Info session with Leadership Team is this week:

    https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.

    MDBR is 3 weeks away! https://Syngap.Fund/Unite

    $5k match https://x.com/phalliburton/status/1792288377049415835

    It’s all about therapies. Precision Genetic and Repurposed.

    Conferences are where we engage professional communities around SYNGAP1 & SRF.

    - Last week I was at Milken Global. All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program

    - This week I was at the #Ultragenyx Bootcamp with our CSO

    https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.

    - ASGCT was last week and that means announcements…

    - Kathryn and I are off to BIO in June in San Diego.

    Ionis for Angelman

    https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX

    Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y

    Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO

    Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ

    Repurposed therapies are just as important.

    Cost effective. Globally available.They are here now. We must act, the suffering is immense.They show us what is improvable and therefore inform clinical trial design.They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials?Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.

    Review of repurposed drugs:

    RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here.

    NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro.

    ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here.

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US

    - 1,010 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 9,900 Twitter https://twitter.com/cureSYNGAP1

    - 3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 141 of #Syngap10 - May 20, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140

    Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    Read Jackie’s article on profound autism, be grateful she is an SRF Leader.

    https://helenjournal.org/april-2024/achieving-equity

    Watch Brett’s 2 min talk on his son, he’s on your team too.

    https://x.com/UFDTech/status/1785111914168594894

    Look at all these families that raise a quarter million dollars via #Sprint4Syngap

    2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ

    - $243k, 844 donors

    - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon.

    Conferences are where we engage professional communities around SYNGAP1 & SRF.

    - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/

    - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program

    It takes a village.

    We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows.

    v1 Drugs - Data - Biomarkers & Endpoints

    v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.

    NEWLY DIAGNOSED?

    New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS

    - 990 YouTube. https://www.youtube.com/@CureSYNGAP1

    - 3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1

    - 49k TikTok https://www.instagram.com/curesyngap1/

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • 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

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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! [email protected] - 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

  • Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

    Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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: [email protected]

    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

  • Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137

    Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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: [email protected]

    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

  • 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

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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

  • #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

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    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=Rwwdifsu1g8Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQwsNAL - 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 volunteers; if interested in helping, contact [email protected] #SyngapConf

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 135 of #Syngap10 - March 3, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

  • A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

    A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

    · SynGAP10 weekly 10 minute updates on SYNGAP1

    #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=Rwwdifsu1g8Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQwsNAL - 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/StoriesCafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/CafeGet 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 [email protected] #SyngapConfSYNGAP1 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=EqNEhROdzvfGZxEQAddison’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=20We’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 resourcesState Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)

    Upcoming

    Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1?You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

    Fundraising

    Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 2nd annual Golf Tourn in Canada 6/8CFTC early-mid Sept? Link to past events is here: https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/ 3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here: https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre

    Podcasts, give all of these a five star review!

    SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024

    #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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