Submitted by: Monica Weldon of Bridge the Gap – SYNGAP Education and Research Foundation
Bridge the Gap – SYNGAP Education and Research Foundation are excited to announce that Dr. Jacques Michaud and Dr. Gavin Rumbaugh from our Medical Advisory Board and Dr. Thomas Creson from Florida Scripps Labs, have written a collective summary on SYNGAP1-related NSID. We are honored to have this summary published in the NORD database (National Organization of Rare Disorders).
This information will be an important resource for clinicians, researchers and parents looking for answers to a possible diagnoses of Global Developmental Delay and Intellectual Disability. This paper provides a detailed summary of signs and symptoms, causes, standard therapies and treatments and investigational treatments on SYNGAP1 mutations.
Read the full paper here: Syngap Paper