![SynGAP10 weekly 10 minute updates on SYNGAP1](https://pbcdn1.podbean.com/imglogo/image-logo/11200789/Untitled_design_qawn8v.png)
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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
![A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e145_-_SYNGAP10_Episode_Tile_ipcgks_300x300.png)
Thursday Jul 11, 2024
A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145
Thursday Jul 11, 2024
Thursday Jul 11, 2024
📝Full show notes: https://syngap.fund/n145
2020 COBA GRANT
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
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
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+
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/
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
![1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e144_Podcast_-_SYNGAP10_Episode_Tile_yueejz_300x300.png)
Tuesday Jul 02, 2024
Tuesday Jul 02, 2024
📝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
Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc
Pipeline - https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/
Emmy
YOU?
https://curesyngap1.org/blog/fundraising-the-backbone-of-research/
PHARMA
https://www.longboardpharma.com/
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/
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/
SHOUTOUTS
JACKIE NEW ED OF NCSA
https://www.ncsautism.org/blog/ed
Jess, Zoe, Lauren, Ed, Suzanne, Heather, Corey…
CB Blood Donation accelerates Science!
STXBP1 conference (Philadelphia, PA, July 19-21, 2024)
Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)
HNRNPH2 conference (Seattle, WA, July 29-30, 2024)
PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)
COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)
SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,040 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,660 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 10,659 Twitter https://twitter.com/cureSYNGAP1
- 48k Insta https://www.instagram.com/curesyngap1/
- 415 TikTok https://www.tiktok.com/@curesyngap1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 144 of #Syngap10 - July 2, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/Copy_of_Podcast_-_SYNGAP10_Episode_Tile_32synw_300x300.png)
Tuesday Jun 18, 2024
Tuesday Jun 18, 2024
📝Full show notes: https://syngap.fund/n143
BIO WAS GREAT
https://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp
GRANTS APPROVED
Multiple grants and agreements approved, wait for press releases. Thank you Aaron & Sarah, Lauren!
FUNDRAISING
- Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth. Also Dr Jillian McKee!
- Blane & Ashley Dallen in Canada raised almost $15k via a tournament.
NHS UPDATE
Colorado should start seeing patients in August! Don’t cancel CHOP appointments, some people have no choice.
CHATS WITH INDUSTRY
Prevalence:
They are easily missed. The math is clear. Lots of data. 1% of ID = 35k+
1/100k at 3.6m in 2023 = 36 a year, minimum with PTV.
5/100k = 180. A YEAR.
Caren is 65.
36 x 65 = 2,340 PTVs vs 400 SRF knows about)
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/
CB Blood Donation accelerates Science!
STXBP1 conference (Philadelphia, PA, July 19-21, 2024)
Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024)
HNRNPH2 conference (Seattle, WA, July 29-30, 2024)
PWS/USP7 conference (Atlanta, GA, September 26-27, 2024)
COMBINEDBrain conference (Kansas City, MO, September 29th, 2024)
SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)
SHOUTOUTS
- Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/
- We need a Pavel award.
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,030 YouTube. https://www.youtube.com/@CureSYNGAP1
- 10,421 Twitter https://twitter.com/cureSYNGAP1
- 3,652 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 49k Insta https://www.instagram.com/curesyngap1/
- 397 TikTok https://www.tiktok.com/@curesyngap1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 143 of #Syngap10 - June 18, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e142_Podcast_-_SYNGAP10_Episode_Tile_8j7ijv_300x300.png)
Friday May 31, 2024
Friday May 31, 2024
Full show notes: https://syngap.fund/n142
BIG NHS UPDATE
66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled.
Colorado should start seeing patients in August!
WHERE TO DONATE
MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite
BLOOD: June 7 & 8, Loews Coronado Bay Resort, email CSO@cureSYNGAP1.org
TIME TO JOIN #TEAMSRF
- Volunteer Webinar: https://syngap.fund/LT
- Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community
- https://curesyngap1.org/volunteer-with-srf/
CHATS WITH INDUSTRY
- Is IT delivery a blocker for precision therapies, NO!
- 2026 is feeling like the earliest we see trials.
- BIO with Kathryn next week!
CALENDAR MANAGEMENT
Rare Across America is 66 days away, register now:
https://everylifefoundation.org/rare-advocates/rare-across-america/
Conference is 188 days away:
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
PUBLICATION ALERT
https://x.com/cureSYNGAP1/status/1795837761678962799
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,020 YouTube. https://www.youtube.com/@CureSYNGAP1
- 10,000 Twitter https://twitter.com/cureSYNGAP1
- 3,591 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 49k Insta https://www.instagram.com/curesyngap1/
- 392 TikTok https://www.tiktok.com/@curesyngap1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 142 of #Syngap10 - May 31, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e141_Podcast_-_SYNGAP10_Episode_Tile_dac52w_300x300.png)
Monday May 20, 2024
SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141
Monday May 20, 2024
Monday May 20, 2024
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
Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y
Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO
Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ
Repurposed therapies are just as important.
- Cost effective. Globally available.
- They are here now. We must act, the suffering is immense.
- They show us what is improvable and therefore inform clinical trial design.
- They are not compromising other trials. And to even suggest that is unethical if it suggests people should hold off on helping patients. How about we just diagnose more kids? Or think harder about which kids go to which trials?
- Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.
Review of repurposed drugs:
RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction. I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here.
NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx. I am hopeful that some researcher does an investigator led trial. But until then, ask your Neuro.
ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action. Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating. Please share data with us if you are trying. We are collecting case studies for Update 3. Thank you to the team here.
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
- 1,010 YouTube. https://www.youtube.com/@CureSYNGAP1
- 9,900 Twitter https://twitter.com/cureSYNGAP1
- 3,560 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 49k TikTok https://www.instagram.com/curesyngap1/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 141 of #Syngap10 - May 20, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e140_Podcast_-_SYNGAP10_Episode_Tile_vfwgz5_300x300.png)
Thursday May 02, 2024
Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140
Thursday May 02, 2024
Thursday May 02, 2024
Read Jackie’s article on profound autism, be grateful she is an SRF Leader.
https://helenjournal.org/april-2024/achieving-equity
Watch Brett’s 2 min talk on his son, he’s on your team too.
https://x.com/UFDTech/status/1785111914168594894
Look at all these families that raise a quarter million dollars via #Sprint4Syngap
2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
- $243k, 844 donors
- Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/
- Reef’s family also found connection by helping SRF, video coming soon.
Conferences are where we engage professional communities around SYNGAP1 & SRF.
- Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/
- This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/
- Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program
It takes a village.
We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows.
v1 Drugs - Data - Biomarkers & Endpoints
v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources
SOCIAL MATTERS
- 990 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 9,852 Twitter https://twitter.com/cureSYNGAP1
- 49k TikTok https://www.instagram.com/curesyngap1/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 140 of #Syngap10 - May 2, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e139_Podcast_-_SYNGAP10_Episode_Tile_rk65pg_300x300.png)
Tuesday Apr 23, 2024
SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
Tuesday Apr 23, 2024
Tuesday Apr 23, 2024
SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)
SRF is the same:
- Raise Funds to Change the Future
- Volunteer, contribute to a larger effort
- Connect with other families
- Share our experience to make broader knowledge
- Learn from each other and scientists
Raise Funds
#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
- Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd
- $197k, 521 donors
- See you Saturday, enjoy it.
- It’s a get to, people get to support our incredible efforts.
Volunteer
ACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez
- State Reps - May 3rd!
- Advocates - Jackie Kancir and Jess Johnson are killing it.
- Many other roles
- DEI too.
Connect with other Families
- Jaxon Movie is up https://curesyngap1.org/resources/movies/
- Sprint events. Volunteer. Etc.
- Hope drove across the country
Fundraiser https://givebutter.com/zDUIfN
Reel https://www.facebook.com/reel/421525020629131
Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28
Share our experience to make broader knowledge
- FB: www.facebook.com/groups/syngap/
- CHOP is at 99! endd@chop.edu
- Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8
Learn from each other & scientists
- https://curesyngap1.org/podcasts/cafe-syngap1/
- Coming soon: Missense Server is Awesome, Frogs too.
- NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/
- Remember new families have resources too! https://syngap.fund/Resources
I’m learning too! Just accepted to #LeadersLink of #FasterCures!
- Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures
- X https://x.com/JMGraglia/status/1782778094589460812
- LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX
SOCIAL MATTERS
- 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 139 of #Syngap10 - April 23, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e138_-_SYNGAP10_Episode_Tile_tcq6md_300x300.png)
Thursday Apr 04, 2024
Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
Thursday Apr 04, 2024
Thursday Apr 04, 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: ENDD@chop.edu
Adults:
- Press Release: https://www.eurekalert.org/news-releases/1040062
- Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24 39 and counting.
#Sprint4Syngap 2024
Total: $168,572 from 347 people
Tavilla: $126,385 from 62
Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
REPURPOSING
- NAL, blog coming.
- Ravicti, enrolled, and blog on Butyrate coming.
- Nortriptyline, has been game changing, discussing a larger trial.
REFLECTIONS
- Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
- Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
- Tony update. Grateful and grieving.
SOCIAL MATTERS
967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 138 of #Syngap10 - April 4, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e137_Podcast_-_SYNGAP10_Episode_Tile_4yg8d7_300x300.png)
Tuesday Mar 26, 2024
Tuesday Mar 26, 2024
Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)
Stoke Therapeutics #StokedAboutStoke
I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706
This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew
Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11
Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial
Studies
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: ENDD@chop.edu
Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24
Fundraisers
247 supporters have us at $79k
Team Tavilla is over half of that at $47k
Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.
Rifton bike for S4S anyone at $500+. 247 Supporters!
https://curesyngap1.org/events/featured/sprint4syngap-2024/
Social Matters
953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 137 of #Syngap10 - March 26, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
![SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136](https://pbcdn1.podbean.com/imglogo/ep-logo/pbblog11200789/e136_Podcast_-_SYNGAP10_Episode_Tile_m5ezhz_300x300.png)
Saturday Mar 16, 2024
Saturday Mar 16, 2024
Do this study for UCB: https://Syngap.Fund/QOL24
Two killer publications:
Boston -
https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9
Penn/ENDD -
https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X
Email Info at CureSYNGAP1 dot org for PDFs!
Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!
Background: https://www.youtube.com/watch?v=pagFzSmYK8E
Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine.
Sprint4Syngap is our current fundraiser, get in there and join us!
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
Sprint4Syngap Total: $33,704. Tavilla Total: $6,695
Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 136 of #Syngap10 - March 16, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1