Study Spotlight: Rochester 3 Needs Toddlers, Minovacca’s Neuro Focus, & Key Research Updates – #S10e159
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
Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25
VOLUNTEER
Join us: https://curesyngap1.org/volunteer-with-srf/
SOCIAL MATTERS
– 3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/
– 1,270 YouTube. https://www.youtube.com/@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
