The GA4GH Rare Disease Community of Interest (RD CoI) was launched to bridge the clinical and technical rare disease communities through collaborative use cases and implementation of GA4GH standards. With that vision still strongly in place, we are now taking time to reflect and explore how to translate the vision into meaningful and coordinated action.

This session will bring together stakeholders from across the rare disease ecosystem — clinicians, researchers, bioinformaticians, patient advocates, and standards developers — for an open and practical discussion about what the RD CoI can and should prioritise moving forward. Serving as a structured planning and brainstorming discussion to help define the next phase of the RD CoI, we will present emerging themes and potential focus areas based on a series of preliminary conversations with active members of the rare disease community, as well as use the session to gather broader input from Connect participants. Outcomes from this session will inform the CoI’s revised scope, engagement strategy, and coordination model.

The session will also help surface specific opportunities for GA4GH standards to address current gaps in rare disease genomics, and identify implementation partners across research, clinical, and patient communities.