📝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

📝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-uSYE

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

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

 - 3,660 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

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

BIO WAS GREAT

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

 - 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

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

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

 - 3,652 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

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!

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

 - Volunteer Webinar: https://syngap.fund/LT

 - 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

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

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

 - 3,591 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

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.

1. Cost effective.  Globally available.

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

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

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

 - 3,560 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

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/

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/

 - 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

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

 - 3,552 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/id6464522917

#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

Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)

Raise Funds

Volunteer

Connect with other Families

SOCIAL MATTERS

Episode 139 of #Syngap10 - April 23, 2024

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