Syngap

PRESS RELEASES FEBRUARY 27, 2022 See official news release on EurekAlert here. For #RareDiseaseDay 2022, SynGAP Research Fund (SRF) announces a partnership with Probably Genetic to find more patients — the campaign is called #CouldItBeSYNGAP1. The partners have developed a pre-screening tool to provide undiagnosed patients and families a pathway…

SCIENCE JANUARY 27, 2022 Aaron Harding is a scientist and director at Sharp HealthCare, member of SRF’s Board of Directors, and a SYNGAP1 dad. This article is based on information gathered through shared personal experiences in the SYNGAP1 community. …

PRESS RELEASES FEBRUARY 22, 2022 See official news release on EurekAlert here. What if milk could be used to deliver genetic therapies to the brain of SYNGAP1 patients? The first step is to see if natural nanoparticles (“exosomes”) in milk can improve SynGAP expression! The SynGAP Research Fund (SRF) announces…

SYNGAP CENSUS DECEMBER 30, 2021 How many people in the world have SYNGAP1? #SYNGAPCENSUS 2021 Update: +102 in Q4 2021

SRF NEWS DECEMBER 31, 2021 SRF 2021: The year in review by the numbers Listen to Mike’s latest podcast running down these numbers and view the numbers spreadsheet. ‍$1.8M committed to SYNGAP1 Research via 13 different grants to 10 institutions. 75k+ following @cureSYNGAP1 on 6 social media channels. ‍985 Patients counted in 58 countries. 154 US patients enrolled in…

SCIENCE DECEMBER 10, 2021 Sandy is a volunteer with SRF and aunt to 5-year-old Syngapian Myla. …

PARENT TIPS NOVEMBER 30, 2021 Barbara Gaillard is a retired engineering/IT professional and is the grandmother of Syngapian Naya. This article is based on anecdotal information, casually gathered through shared personal experiences in the SYNGAP1 community. Scientific information is alluded to via hyperlinks to other articles, but their accuracy is…

PARENT TIPS NOVEMBER 22, 2021 Maarja is a mother of three. They were the first family in Estonia to receive a SYNGAP1 diagnosis (daughter Elisabet, age 3 in 2018). Maarja is dedicated to raising awareness, fundraising for a cure, and advocating for families of loved ones with special needs . Fun & Functional Fundraising Ideas …

SCIENCE OCTOBER 16, 2021 NOTE: This post is about ICD-11. If you’re looking for ICD-10, go here. ‍ Why Syngapians need ICD codes ‍What is an ICD code? ICD stands for The International Statistical Classification of Diseases and Related Health Problems. ICD codes help document a patient’s medical condition and provide information about the disease…