SynGAP10 weekly 10 minute updates on SYNGAP1
Business:Non-Profit
“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
https://youtu.be/xYOK-yzUWSI
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344
Young c.980T>C p.Leu327Pro
http://clinvar.com/ SYNGAP1 c.980C>T
2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/
2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/
SRF iPSCs
https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments
Dr. Courtney Grant
https://www.eurekalert.org/news-releases/957967
Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
Dr. Haas Webinar
https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas
EpiMVP
https://epimvp.med.umich.edu/
https://leonandfriends.org/ started this work
https://www.syngapresearchfund.org/leon
#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk
Register for the Conference!
35 Days until the Conference - Sign up by Halloween.
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf
#SyngapConf Conference Agenda Announced!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I
Press release https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 121 of #Syngap10 - October 25, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140
SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
Stoke Praxis Longboard, CHOP & Adult Studies, Hope4theCure, Sprint4Syngap, & Social Matters #S10e137
SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136
#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great, year, get some #RareBrewCoffee! #S10e135
A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134
What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133
Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132
SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131
2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130
Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129
Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128
Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127
A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126
ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125
Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123
The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123
Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier
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