Over 900 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/
Friday Apr 01, 2022
LOTS OF NEWS - 1055 Patients, it’s #SyngapCensus Day! #S10e54
Friday Apr 01, 2022
Friday Apr 01, 2022
Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022
- Fintepla for LGS! Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113
- Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178
We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn
Thank you Julie for your help making mice, we are really having fun accelerating science. Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF. All costs $.
Global: Victoria is at Dravet in Spain with Katrien from the Netherlands. How cool is that? Denmark is next week.
BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues. We are so lucky to have this code, USE IT. I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors. USE THE CODE… F78.A1
Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe
- Build #TeamYourKid
- Our kids don’t get simpler or smaller
- Babysitters and community members who know them now are their advocates later
- Double up on Neuros (unless you being seen by rockstars who are close)
- Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies.
- If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons
- Second opinions never hurt
- The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies.
- When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list.
Reminder in last episode (google #S10e53) for all the events this year, but coming up fast:
- Jackie’s webinar on Severe Behaviors, Wednesday April 6th. https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw
- Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg
- 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022
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 54 of #Syngap10 - April 1, 2022
#SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
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