This week was ripe with a promising future! #s10e68

Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel).

 

Monday 

- Invitae Announcement

https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx 

- Sign up for Ciitizen: https://syngap.fund/ciitizen 

- CMO email: “While the announcement focused  primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy.

 

We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “

Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx  

 

Tuesday 

- Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1

   - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.”

  - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg  

 

Wednesday 

- Sample collection at Stanford.

- Planning for end of year, see below.

 

Thursday - CHOP Update 

- https://www.helbiglab.io/  

- https://www.youtube.com/watch?v=JVTnkQCtQNo 

 

Friday - Disease concept interview, Rarebase & Colombia

- WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022.

- https://www.rarebase.org/  

- Vicky is also building community in LatAm, there is a reunion this weekend!

https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w  

 

FUNDRAISERS

- MICE: Help us Make 2!  https://syngap.fund/2mice  

- BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers  

 

EVENTS

- 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/  

- 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 

- 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap  

- 11 Weeks: October 12-15 in OH - Child Neurology Society 

- 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 

- 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient

- 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat 

 

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 68 of #Syngap10 - July 25, 2022 

 

#Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration