SynGAP10 weekly 10 minute updates on SYNGAP1

Friday, November 15, 2024

SRF NEWS

4MTx Announcement and direct impact on pipeline

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:

Conference - Conference is 18 days away!

FUNDRAISING

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/

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

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

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/

Conference - Conference is 1 month away!

• Lineup: Science Day lineup - https://x.com/curesyngap1/status/1851723428677456093

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

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

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/

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

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

Tuesday, October 22, 2024

First Principles

• Genetic disease means that gene broken since conception.

Our job

• Develop medicines or get industry to - This is happening see Pipeline

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/

What we are asking for

• We need to raise at least $500k (3rd site), preferably $1.13M (ProMMiS)

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.

• 2. Why NHS?
  • Understand SYNGAP1 better, go beyond Vlaskamp 2019 and Wiltrout 2024, see #S10e105 

• 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

• 5. How and why so fast?

• • Because we can.  Time is Brain.

• 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.

• 7. Expensive?

• • No. Clinical Research is more expensive than basic scientific research.

• 8. Why Bother/Help?

• • Now is the time for SYNGAP1, we miss it at our peril.

• 9. What can I do?

• • Donate to, share, join our Coast2Coast Clinics Challenge – two SYNGAP1 Squads in West and East – it’s critical

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

📝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

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-behaviors

On the site

• Syngap.Fund/Bones & lit review Syngap.Fund/AEDeffect

Vicky & Merlina are unstoppable

• SHER Board: https://www.linkedin.com/posts/sherusaoficial_excited-to-introduce-the-board-of-directors-activity-7250152735403040768-Q18W

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

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/

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

#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

📝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/

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

PR out this week 

• Lacoste (https://Syngap.Fund/PR28)
  

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

• September 23 3:00 Eastern to Sept 30 noon. 

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/

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

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

📝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/

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/

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

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

📝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)

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

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

VOLUNTEER NEEDS

Thank you Grants, Aaron & Sarah

Fundraising and Finance

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/

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

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

📝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

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.  

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/

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

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

📝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. 

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/

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

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

📝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

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

 - 3,685 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

Podcasts, give all of these a five star review!

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

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