SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141
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
