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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 Jun 18, 2021
Friday Jun 18, 2021
- 3 days until June 21st!
- Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
- Use hashtag #SYNGAPlove & #Splash4SYNGAP
- Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development
- Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development
ICD-10
- EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13
- Dravet Business Cards. Copying is great! Copy us.
- ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner
- Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm
- DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases
- Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1
- Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific.
Friday Jun 11, 2021
Friday Jun 11, 2021
- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove
COMMUNITY
- I don’t want the questions. It’s hard to go out in public, our kids are so damn cute.
- Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease
BLOGS
- Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1
- SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1
UPENN
- Thx Dr. Heller for your impressive progress report!
- Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE
- Coba Press Release https://syngap.fund/coba2
- #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF
- Sign up for Ciitizen: Ciitizen.com/SYNGAP1
Sunday Jun 06, 2021
Sunday Jun 06, 2021
SYNGAP10 - Ep. 6 - 16 April 2021
- SRF Newsletter yesterday, make sure you sign up!
- SSB is off and running.
- Webinars, another tomorrow in Spanish
- Sprint next Saturday - April 24th
- Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina
- SSB - Seizure sleep and behavior
- Do the surveys! Links are in the newsletter and here:
- syngap.fund/ssb-Behavior
- syngap.fund/ssb-sleep
- syngap.fund/ST
- STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett
SCN2A via Praxis, SCN8A & BPAN - Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool. He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP.
- Sprint4Syngap is going strong: $69k+! Way to go #TeamMyla!
- FondoSyngap.org is live, great work Vicky & Marta!
- We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on?
- You’re not alone, reach out: Mike@SyngapResearchFund.org
Friday Jun 04, 2021
Friday Jun 04, 2021
- Birthday Fundraiser was a great success! https://syngap.fund/m46
- Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM
- ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
- Learn more at SyngapResearchFund.org
Friday May 28, 2021
Friday May 28, 2021
SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!
Friday May 21, 2021
Friday May 21, 2021
SYNGAP10 - Episode 11 - May 21st, 2021 - We must be hopeful - and it makes sense to be so.
- Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382
- Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981
- Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine
- My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/
- List of things you can do for SRF: https://Syngap.fund/clicks
- Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs
- https://SyngapResearchFund.org
Friday May 14, 2021
Friday May 14, 2021
SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC
- Validated Scales
- Congrats to the ORCA Team at Duke https://syngap.fund/orca
- Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars
- Grand parents article https://syngap.fund/grand
- Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1
- Join the Group there is a link in the article - Peer connection is so key
- Ciitizen
- US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/
- International is open! Same link, but you must collect and upload.
- Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo
- IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available
Friday May 07, 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
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
Friday Apr 23, 2021
- We have raised $104k, so far! Look for the #sprint4syngap tomorrow!
- Thanks to Henry Anderson of the Pats for a shoutout!
- EEG Biomarker work
- Analysis of Ciitizen data into a study
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