SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101
SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101
What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368
Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481
Thanks to Kevin for going to Gatlinburg
– Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
– ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097
Thanks to Brain & Life, part of AAN for this article “How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Sibling day
John https://youtu.be/J5oBo9zcRUE
LGS https://www.youtube.com/watch?v=kR1nWSEZPfY
Webinars
McKEE 4/27 https://syngap.fund/mckee
SMITH 5/11 https://syngap.fund/smith
Ciitizen SYNGAP1 count is over 2101
– Sign-UP https://ciitizen.com/syngap1
– Sign-IN & Update https://app.ciitizen.com/
Rare News Updates
- Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases
- SCN2A Clinical Trial Site and Video, which is very good!
– https://www.youtube.com/watch?v=z9SqMSO405I
– https://scn2aclinicaltrials.com/
- Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8
#Sprint4Syngap – 14 days, April 29, 2023
– Fundraising page: https://syngap.fund/sprint23
#MDBRSRF – 56 days – June 10, 2023
#SyngapConf – 229 days – book now, November 30, 2023
– Conf pre-registration link: Syngap.Fund/2023conf
– Book hotels ASAP: https://syngap.fund/2023hotel
Remember the todos in #S10e100 – https://www.youtube.com/watch?v=CCjPkabkR1A
– Education survey https://forms.gle/YZJZmJavMNKNEBg88
– Biorepository Roadshow – https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
– MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
– DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
– KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
– STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
– Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
– (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
– (Potential) KAND, August 3rd-6th 2023 (Queens, NY)
– (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
– IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
– USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
– TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
– COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
– ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
– (Potential) Angelman Foundation, November 2023 (Orlando, FL)
– SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
– https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 101 of #Syngap10 – April 15, 2023
#frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
