Bridge the Gap – SYNGAP Education and Research Foundation is excited to announce the opening of their third SYNGAP1 Center of Excellence at Stanford Children’s Health, Lucile Packard Children’s Hospital in Palo Alto, CA. Maura Ruzhnikov, MD and Elli Brimble, CGC will be leading the center and will serve families with SYNGAP1 related disorders patients in the West Coast region of the United States. The team also includes epileptologists with experience managing genetic causes of epilepsy.
The Stanford SYNGAP1 Center of Excellence will be collaborating with Texas Children’s Hospital in Houston, Texas and Kennedy Krieger Institute located in Baltimore, MD on a prospective SYNGAP1 Natural History Study to begin in late 2019. Bridge the Gap – SYNGAP ERF will be supporting the center through grants in preparation for pre-clinical trial design as they move towards finding possible treatments for patients with SYNGAP1 mutations.
SYNGAP1-related non-syndromic intellectual disability (NSID) in humans was first reported in 2009. A mutation in SYNGAP1 results in intellectual disability ranging from mild to severe, epilepsy and a multitude of other comorbidities. There can be associated attention deficits, impulsivity, and/or mood disorders. Epilepsy is very common and reported in 94% of the SYNGAP1 patients. SYNGAP1 plays a critical role in brain plasticity and disruption of its function may represent one of the most common causes of ID worldwide. Further, SYNGAP1 is one of the top two autism-associated genes being researched worldwide. The use of genomic sequencing has dramatically increased the capacity of physicians to identify these mutations.
About Bridge the Gap – SYNGAP Education and Research Foundation
Bridge the Gap – SYNGAP Education and Research Foundation (501(c) 3) is a non-profit organization whose mission is to serve, educate and fund research for families coping with the effects of SYNGAP1 mutations. It is the leading organization advocating and raising funds for research and treatments for SYNGAP1.
About The Stanford Children’s Health Neurogenomics Clinic
The Stanford Children’s Health Neurogenomics Clinic specializes in diagnosing and caring for children with rare disorders of the nervous system. With our team’s combined expertise in human genetics, genomic technologies and neurology, we can identify genetic factors that help explain your child’s neurologic features. The Neurogenomics Clinic uses cutting-edge technologies to develop a personalized approach to diagnosis and management.
