Bridge the Gap - SYNGAP Education and Research Foundation Presents Their First ResearchGrant to Kennedy Krieger Institute
The SYNGAP1 Clinic and Research Program at Kennedy Krieger Institute works in collaboration with Dr. Richard Huganir's laboratory at the Johns Hopkins University School of Medicine to focus on phenotype-genotype characterization and the development of outcome measures and identification of mechanisms in SYNGAP1 for targeted treatments. The funding from this grant will help advance translational science in SYNGAP1-Related Disorders.
SYNGAP1 – related non-syndromic intellectual disability was first reported in 2009. Next-generation sequencing has dramatically increased the number of patients identified with this genetic disorder. Individuals with mutations in SYNGAP1 may present with intellectual disability ranging from mild to severe, epilepsy and other comorbid neuropsychiatric disorders. These include attention deficits, impulsivity, schizophrenia, autism spectrum disorder and mood disorders. It also plays an important role in synaptic plasticity and learning and memory.
The SYNGAP1 Clinic and Research Program utilizes both a clinical and research focus to meet the needs of current and future patients impacted by SYNGAP1. The Clinic employs an interdisciplinary approach to care since it is comprised of clinicians from Kennedy Krieger's Neurogenetics Clinic, the Center for Autism and Related Disorders, and the Division of Neuropsychology, and is comprised of an assistive communication specialist, occupational therapist, genetic counselor, neurologist, neuro-psychologist and speech language pathologist. The research arm supports these efforts by performing genotype-phenotype characterization and develops outcome measures and biomarkers.
