BALTIMORE, Jan. 30, 2019 /PRNewswire/ -- Bridge the Gap – SYNGAP Education and Research Foundation presented Kennedy Krieger Institute, in academic affiliation with the Johns Hopkins University School of Medicine, with their first research grant of $25,000 on January 23, 2019. The award was presented by Monica Weldon, Chief Executive Officer to Constance Smith-Hicks M.D., Ph.D., who is the director of the SYNGAP1 clinical program.
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.
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. The leading organization advocating and raising funds for research and treatments for SYNGAP1. Bridge the Gap-SYNGAP Education and Research Foundation's mission is to improve the quality of life for people affected by SYNGAP1, provide family support, accelerating research and raising awareness.
Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain, spinal cord and musculoskeletal system, Kennedy Krieger Institute in the greater Baltimore/Washington, D.C. region serves 24,000 individuals a year through inpatient and outpatient clinics, home and community services, and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental issues, from mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop, while at the same time pioneering new interventions and methods of early diagnosis. Visit www.KennedyKrieger.org for more information about Kennedy Krieger.
SOURCE Bridge the Gap - SYNGAP Education and Research Foundation