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

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

1. 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 
2. SCN2A Clinical Trial Site and Video, which is very good!
   – https://www.youtube.com/watch?v=z9SqMSO405I

– https://scn2aclinicaltrials.com/ 

1. Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 

#Sprint4Syngap – 14 days, April 29, 2023

– https://syngap.fund/sprint 

– Fundraising page: https://syngap.fund/sprint23

#MDBRSRF – 56 days – June 10, 2023

syngap.fund/mdbr23

#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 [email protected] 

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 101 of #Syngap10 – April 15, 2023 

#frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat