SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

“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 
 
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https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 
 
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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