Rare Disease Report

Bridge the Gap - SYNGAP: Patient Support

DECEMBER 23, 2016
Rebecca Sargent
Rebecca Sargent Patient Advocacy Leader for Bridge the Gap -  SYNGAP Education and Research Foundation, discusses how her organization helps new families connect as a community.
SYNGAP1 is a rare non-syndromic neurological disorder that causes intellectual disability. Approximately two-thirds of individuals with SYNGAP1 mutations suffer from some type of epileptic encephalopathies. In recent findings SYNGAP1 has been a gene linked to autism.  The percentage is unknown of how many of these individuals have been diagnosed with Autism. Several mutations in the SYNGAP1 gene were identified as the cause of intellectual disability.
For more information, visit www.bridgesyngap.org/

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