Tuesday, January 28, 2025 - Week 5

STUDIES OF THE WEEK - ROCHESTER 3

We need 3 more 0-2 Year olds.

https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/

NYU - CureSYNGAP1.org/NYU

https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/

Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing 

STUDY HUDDLE on THURSDAY!

1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU

COMPANY OF THE WEEK - Minovacca

SRF put Neuro on their radar and now they are building a company.  

https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery

Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/

REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/

https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html

PATIENT ENGAGEMENT IMPROVES OUTCOMES

https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/

RESEARCH UPDATE

There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024!  So far 4 (but really 5 if you count Coller) for 2025.

https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded

Note: Coller began working on SYNGAP1 with SRF support in 2022!  See https://www.eurekalert.org/news-releases/966873

VOLUNTEER SPOTLIGHT

Deanna N. Rorie nee Farley.  Longest running SRF Volunteer ever.  Big thanks for all the Warriors.

CONFERENCE

VOLUNTEER 

Join us: https://curesyngap1.org/volunteer-with-srf/

SOCIAL MATTERS

- 3,922 LinkedIn.  https://www.linkedin.com/company/curesyngap1/

- 11,565 Twitter https://twitter.com/cureSYNGAP1

- 47k Insta https://www.instagram.com/curesyngap1/ 

NEWLY DIAGNOSED?

New families have resources here! https://syngap.fund/Resources 

Podcasts, give all of these a five star review!

https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 159 of #Syngap10 

#CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness  #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1