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

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 

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