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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
Wednesday Jul 06, 2022
Wednesday Jul 06, 2022
#SyngapCensus for 2q22 is 1098!
https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022
Incidence and Prevalence Article
GRANT TO COURTNEY LAB - Spread the word
-Twitter: https://twitter.com/JMGraglia/status/1544634675808722946
-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
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