The first annual Sprint For Syngap is in the books, and it was a huge success! Thank you to everyone who participated, donated, or contributed in any way. You made it happen!
What is Sprint For Syngap, or #Sprint4Syngap in social media-speak? On April 24, 2021, Syngap Research Fund (SRF)…
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 .
PARENT TIPS
NOVEMBER 11, 2021
Erin Zacharias, M.S, CCC-SLP, is a pediatric Speech Language Pathologist (SLP) with 8 years experience in private practice and school-based services. She first encountered children using communication devices when she volunteered at an AAC summer camp as an undergrad. Through ongoing coursework, she has continued…
SCIENCE
NOVEMBER 8, 2021
Sébastien Laverrière is dad to Rachel, 10 years old at the time of her SYNGAP1 diagnosis. Now living in Switzerland, Sébastien has been part of the Syngap Global Network since its inception, creating relevant and timely content for parents.
SRF NEWS
OCTOBER 29, 2021
The SynGAP Research Fund’s first fundraising gala is in the books and by all accounts it was a huge success!
On the evening of October 23, 2021, SRF board member Nancy Leib Kessler, sister to Syngapian Caren, hosted The First Annual Caren Leib Gala at…
SCIENCE
OCTOBER 16, 2021
NOTE: This post is about ICD-11. If you’re looking for ICD-10, go here.
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…
PRESS RELEASES
OCTOBER 13, 2021
See official press release on PRN here.
The SynGAP Research Fund (SRF) announces grants to Drs. April Levin, Mustafa Sahin and Annapurna Poduri of Boston Children’s Hospital (BCH) to advance SYNGAP1 biomarker characterization and genotype-phenotype analysis.
SYNGAP1-related intellectual disability is a rare genetic disorder caused…
PARENT TIPS
OCTOBER 9, 2021
Patients and families long to tell their health stories and to have their voices heard. Patient Voice Publications (PVPs) tell the patient story, highlighting for the pharmaceutical industry (pharma) the challenges they face and the everyday support they need. PVPs bring the patient voice to…
PATIENT STORIES
OCTOBER 2, 2021
Suzanne & Brent Jones are parents of three children, the youngest of whom and their only daughter was diagnosed with SYNGAP1 at age 10.
Our daughter, Jansen, is sick — please help us find a treatment. In honor of Jansen’s birthday month and recent genetic…
SynGAPResearchFund.com (est. 2018) improves the quality of life of #SynGAP patients via research & development of treatments, therapies & support systems.
