Our Contributions to SYNGAP1 Research


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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)
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