SYNGAP1 Clinical Research Studies
We are Committed to a Better Future for All SYNGAP1 Patients and Families!
Patients with SYNGAP1 condition are treated by specialists in our Neurology Program. Neurologists at Kennedy Krieger Institute provide diagnostic services, therapeutic interventions, and genetic counseling for various disorders affecting the brain and central nervous system in infants, children, and adolescents. They also see adults in specific cases to treat the individual throughout the lifespan.
VOLUNTEERS NEEDED FOR THE RESEARCH PROJECT
Why are we doing this research?
We are looking for volunteers to take part in a research study that we are doing about genetic forms of neurodevelopmental conditions. We aim to describe how genetic code changes affect people with neurodevelopmental conditions. Our hope is that this will:
i) help us better understand people with neurodevelopmental conditions and genetic changes
ii) improve our chances of developing new therapies
iii) make it easier to do clinical trials to test new therapies
SYNGAP1-related Intellectual Disability (ID) is a genetic condition linked with ID, autism, epilepsy, and sleep problems, amongst other health conditions.
Sleep is important when growing up, but people with ID are more likely to have sleep problems than other people. Sleep problems can cause difficulties in thinking skills, memory, behavior, emotional functioning, and quality of life. These side effects can be even more problematic for people with ID, who already have social and behavioral difficulties. Understanding their sleep patterns is important to try and develop effective therapies for them.
Join a research study at the National Cancer Institute’s Division of Cancer Epidemiology and Genetics. The purpose of the study is to understand what causes RASopathies, and how we can better screen for and treat these
Beckett Weldon, our founder's son was selected to be the SYNGAP1 Face of a Rasopathy.
SYNGAP1-related non-syndromic intellectual disability
- Other Names: Autosomal dominant intellectual disability 5; MRD5; SYNGAP1 syndrome; SYNGAP1-related NSID; Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia, and Autism