10 min listen
Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66
Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66
ratings:
Length:
10 minutes
Released:
Jul 6, 2022
Format:
Podcast episode
Description
#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
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
Released:
Jul 6, 2022
Format:
Podcast episode
Titles in the series (100)
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