This week was ripe with a promising future! #s10e68


This week was ripe with a promising future! #s10e68

Remember Episode 67? (Like these and subscribe to our YouTube channel).   Monday  - Invitae Announcement
July 25, 2022

This week was ripe with a promising future! #s10e68

Remember Episode 67? (Like these and subscribe to our YouTube channel).



– Invitae Announcement 

– Sign up for 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:  



– 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.”




– Sample collection at Stanford.

– Planning for end of year, see below.


Thursday – CHOP Update 


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.  

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



– MICE: Help us Make 2!  




– 7 Weeks: September 12-14 in San Diego  

– 10 Weeks: October 8 in NJ – Caren Leib Gala 

– 10 Weeks: October 8 in SC – Scramble for SYNGAP  

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

– 15 Weeks: November 12 in GA – Sparks of Hope Gala 

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

– 18 Weeks: December 1 & 2 in TN – Syngap Science Meeting – 


This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here   


Apple podcasts:  


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 

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