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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
Thursday Aug 22, 2024
Thursday Aug 22, 2024
📝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
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
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/
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
Sunday Aug 11, 2024
Sunday Aug 11, 2024
📝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
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
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/
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
Saturday Jul 27, 2024
Saturday Jul 27, 2024
📝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
Accelerating Clinical Excellence - PROJECT ACE - Multisite Multidisciplinary Prospective Natural History Study (MsMdProNHS) - CHOC
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
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/
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
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
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
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
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
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
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
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
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