SynGAP10 weekly 10 minute updates on SYNGAP1

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154

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/srf
• Growing 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 families
• We'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-bjebr
• https://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/CHOPEsp
• Bower family blog - Camden's trip to CHCO - https://Syngap.Fund/CamCHCO
• Thank 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/1851723428677456093
• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
• Friday 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/Minted
• FUNDRAISE 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

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

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/1851723428677456093
• Agendas are up! https://curesyngap1.org/events/conferences/syngap1-conference-2024/

• Thursday Reception at the Hotel: https://www.eventbrite.com/e/rare-research-reception-tickets-1003668087267
• Friday 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

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

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 Pipeline
• Get regulators to approve trials
• Get 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 collection
• Regulatory 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 SRF
• Fundraise with friends and family
• ACES 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 efforts

• • We 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 challenging
  • Ideally we develop a Synthetic Control Arm if we use GCP
  • Why 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 regulators
  • Accessibility (not primary reason)
  • Establish more locations where trials will be managed
  • Laying a foundation for a national self-sustaining network
  • 3 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 path
  • SMA, 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 other
  • Relatively strong amount of scientific and clinical research
  • Haploinsufficiency (like Dravet – STOKE) – so relatively easy

• 7. 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

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

📝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 khuba@jcu.edu 

 

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-behaviors
• Do 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/AEDeffect
• Syngap.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-Q18W
• Colombia 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-srf
• Book 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/id6464522917

Episode 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

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

 

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu 

 

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-srf
• Book a room - https://bookings.omnihotels.com/event/los-angeles-california-plaza/2024%20SRF-SLC6A1-Connect-and-Cure-GABA-A
• Sponsor 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-2024
• https://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=false

• Rat 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/id6464522917

Episode 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

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

 

FRAZIER STUDY

https://Syngap.Fund/Eye2 khuba@jcu.edu 

 

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/id6464522917

Episode 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

📝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/1825949467973136804
L

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

 

VOLUNTEER NEEDS

Thank you Grants, Aaron & Sarah

Fundraising and Finance
Volunteer! 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/id6464522917

Episode 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

📝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=JDiD8Z3lWQk
Foundation: 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=1000664777811

Episode 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

📝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, Lauren@curesyngap1.org. 

 

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/id6464522917

Episode 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

📝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, Lauren@curesyngap1.org. 

 

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/id6464522917

Episode 145 of #Syngap10 - July 11, 2024

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