Missense Variants are Finally Getting Attention.  Reclassification.  Grants.  #S10e66

#SyngapCensus for 2q22 is 1098! 

https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022

 

Incidence and Prevalence Article

https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed 

 

GRANT TO COURTNEY LAB - Spread the word

-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946 

-LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/ 

-Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl 

-Press Release: ​​https://www.eurekalert.org/news-releases/957967 

 

GENETICS

Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation
Protein Truncating:

- Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation 

- Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation 

FUNDRAISERS
- MICE: Help us Make 2!  https://syngap.fund/2mice

EVENTS

-September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ 

-October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala

-October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 

-November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree

-December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat

 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast 

Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 

 

Episode 66 of #Syngap10 - July 6, 2022

#CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration