What was your consortium's most significant achievement from the past year?
Rajna Filip-Dhima, MS, Project Manager, DSC: The addition and onboarding of a new disease group, SYNGAP1-related intellectual disability (SYNGAP1-ID).
What did this achievement accomplish?
Filip-Dhima: The onboarding of the SYNGAP1-ID disease group will allow us to learn more about the disorder and establish a rich longitudinal dataset. It will help us characterize the phenotypes of SYNGAP1-ID, focusing on the domains of communication, sleep, and sensory reactivity, as well as examine neurophysiological biomarkers of SYNGAP1-ID. We also hope to develop an understanding of neuropsychiatric symptom profiles and regression in SYNGAP1-ID.
How will this impact the rare disease community?
Filip-Dhima: It will provide much-needed information about the progression and trajectory of the disorder.
How will this advance the goals of your consortium and/or the RDCRN at large?
Filip-Dhima: It will help expand our understanding of related disorders, as well as expand the consortium and network further by including new sites.