BridgeRD: Clinical Genetics Meets Functional Genomics for Rare Diseases

Many rare disease patients today still face long "diagnostic odysseys" and low diagnosis yields. The accurate clinical interpretation of rare and novel variants remains a major barrier to diagnosis and treatment.

Currently, clinicians and researchers approach variant analysis very differently. Most clinical genetics insights originate from basic research, yet functional genomics researchers often lack the clinical context necessary to design models that accurately reflect real patient phenotypes. Conversely, clinicians either have limited awareness of genetics or struggle to find researchers with relevant expertise for their patients’ conditions. BridgeRD aims to address this disconnect by:

• Raising awareness of shared and unique challenges across disciplines
• Foster cross-disciplinary collaboration
• Highlight key tools and databases that can help bridge the gap between clinical insight and functional variant analysis

We invite clinicians, clinical variant scientists, basic science researchers, and AI scientists to accelerate efforts to functionally characterize rare variants, improve clinical care, and drive the field forward.

Practicing clinicians, trainees, and academic and industry professionals are welcome to share their insights and explore potential cross-disciplinary initiatives for accelerating the diagnosis and treatment of rare diseases.

BridgeRD2025 is excited to host a variety of opportunities to learn, collaborate, and brainstorm solutions to challenges in studying and treating rare disease:

• Speaker Series: Talks from leaders in clinical genetics, functional genomics, and AI (available in person and live stream online).
• Networking opportunities: structured lunch for in-person attendees
• Interactive Problem-solving Workshop: Explore and generate cross-disciplinary initiatives to improve rare disease diagnostics and treatment (Limited seats available. Please indicate your interest in participating in the in-person registration form, and we will reach out)

Agenda Details:

9:00a - 9:15a: Opening Remarks

9:15a - 9:45a: Keynote

9:45a - 10:45a: Speaker Session I

10:45a - 11:15a: Coffee Break

11:15a - 12:15p: Speaker Session II

12:15p - 12:30p: Closing Remarks

12:30p - 1:30p: Networking Lunch

1:30p - 3:00p: Interactive Problem-Solving Workshop

Host or Publisher BridgeRD