Our Contributions to SYNGAP1 Research
Learn More About Our Centers Of Excellence
Our Seed Grant Supported Research
- Sleep Abnormalities in the Synaptopathies- SYNGAP1-Related Intellectual Disability and Phelan-McDermid Syndrome
Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers
- The severity of social impairments in individuals with syndromic autism compared with other children
Deliverables from SYNGAP1 Community Patient Data
Clinical Findings
- 2018 Sensory Processing Mechanism Linking SYNGAP1 to Autism Spectrum Disorders (NHS Provided Data)
- 2019 Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior First SYNGAP1 EEG Biomarker, Unvalidated (NHS Provided Data)
- 2019 Posterior Dominant Rhythm – Biomarker, Unvalidated (Family Meet-Up Clinic Data Collection)
- 2019 - Understanding the disease and burden in SYNGAP1-related non-syndromic intellectual disability (NSID) First SYNGAP1 Burden Study (NHS Provided Data)
- 2020 Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers (Seed Grant Funded) First SYNGAP1 Quality of Life Study
- 2021 Sleep Abnormalities – Validated Clinical Endpoint (Family Meet-Up Clinics and Seed Grant Funded)
- 2021 Severity of social impairments in individuals with syndromic autism compared with other children (Seed Grant Funded Study, Sensory Processing Clinical Endpoint)
- 2021 -SynGAP is expressed in the murine suprachiasmatic nucleus and regulates the circadian-gated locomotor activity and light entrainment capacity First SYNGAP1 Circadian Rhythm Study (NHS Provided Data)
