SynGAP10 weekly 10 minute updates on SYNGAP1

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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

Friday May 07, 2021

Adults, New parents, ABA, Misense and Money - Episode 9 of #Syngap10 - May 7th, 2021

Friday May 07, 2021

In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed.

Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts
Reflections on conversation with parents, especially the parents of Adult SynGAPians.
We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars
Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas
Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1
Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies.

Friday Apr 30, 2021

BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap - Episode 8 of #Syngap10 - April 30th, 2021

Friday Apr 30, 2021

SYNGAP10 - Episode 8 - BREAKING NEWS
This episode is an absolute must. Don't miss it.

- Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today:
🔗 https://Syngap.Fund/ST

- If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/

- 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal.
Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year
Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page

- #Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are:
Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8
Boston https://youtu.be/edlfSW1kvKE

- Welcome to 4 new families just diagnosed in the past week. 🤯

- If you want to support SRF, call us, there is some much good work to do!

This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast

Friday Apr 23, 2021

Sprint. BCH. Ciitizen. Meetings. Clicks. Docs. Wed. Volunteer! - Episode 7 of #Syngap10 - April 23rd, 2021

Friday Apr 23, 2021

#Syngap10 - Episode 7 - 23 April 2021

Syngap.Fund/Sprint

We have raised $104k, so far! Look for the #sprint4syngap tomorrow!
Thanks to Henry Anderson of the Pats for a shoutout!

The fund will go to an upcoming grant at BCH

EEG Biomarker work
Analysis of Ciitizen data into a study

Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST
We had meetings with CB, PMC, ELCC & REN this week.
Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs

Reach out to us if you want to Volunteer at SyngapResearchFund.org

Friday Apr 09, 2021

EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap - Episode 5 of #Syngap10 - April 9th, 2021

Friday Apr 09, 2021

SYNGAP10, episode 5, 9 April 2021

Biomarker EEG work - very exciting
IPSCs - Prime editing, Base editing, tRNA etc. Based on Ciitizen data!
SSB30 Webinar! Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior
Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO. Sign up now: Ciitizen.com/SYNGAP1
CNF Caregiver survey, due April 23rd. https://syngap.fund/cnf
Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand
Sprint! Bakers dozen 13 groups over $1k! 62K+ https://syngap.fund/sprint
Reminders: Enzo 8, Brazil, was our Warrior this week. http://syngap.fund/warriors
Also two webinars coming up http://syngap.fund/webinar GI on 4/22 and Advocacy on 5/6.

Friday Apr 02, 2021

Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4Syngap - Episode 4 of #Syngap10 - April 2nd, 2021

Friday Apr 02, 2021

SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study.

Ciitizen survey pre-trial is signed! Coming soon, look for an email. If you have not joined, ciitizen.com/SYNGAP1
#SyngapCensus = 762
Caren movie is up - great work on subtitles
This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar
#Sprint4Syngap - We are doing well.
Newsletter - Board announcement. Need some volunteers to write the newsletter!

Friday Mar 26, 2021

Webinars, Warriors, Work, Caren subtitles & Sprint4Syngap - Episode 3 of #Syngap10 - March 29th, 2021

Friday Mar 26, 2021

Webinars: Jo, SRFCC1 and so many others are up our beautitful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them? Is your SynGAPian amoung them? SynGAP.Fund/Warriors Work: Do you have time to help? Know a filmaker. Caren subtitles: we are working on them. Sprint4Syngap: we're uping the goal to $100k, we can do this.