LONDON, July 10, 2017 /PRNewswire/ -- Mapi is scheduled to host a webinar with Monica Weldon, President/CEO Of Bridge the Gap – SYNGAP Education and Research Foundation and Dr. Jimmy Holder; Pediatric ...
While this diagnosis can be isolating, each new member of this tiny but growing patient community is key to elucidating SYNGAP1-related intellectual disability. Monica Weldon, another SYNGAP1 mom, ...
"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...
Mill Valley, CA – May 22, 2024 – The SynGAP Research Fund 501(c)(3), the leading patient advocacy group working to improve the lives of SYNGAP1-Related Disorder (SRD) patients, today announced its ...
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in ...
A new study has brought scientists one step further in the direction of developing a cure for a brutal group of rare brain disorders known as SYNGAP1-related disorders, or SRDs. Researchers were able ...
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Researchers identify instances of SYNGAP1-related disorders caused by inherited genetic variants
Researchers at Children's Hospital of Philadelphia (CHOP) have found that in rare instances, variants responsible for SYNGAP1-related disorders—a group of disorders characterized by developmental ...
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It is caused by mutations in ...
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