Genomics of Rare Disease

The 16th in Wellcome Connecting Science’s series of meetings on rare diseases will present an exciting blend of genomic science and clinical medicine. This meeting will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

The programme features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting, we also examine how this is changing clinical practice.

This year’s meeting will discuss how the use of diverse genomes can help drive precision medicine and more equitable healthcare benefits. They will also focus on non-Mendelian forms of rare disease and new approaches to treat rare disease. They will also discuss how high-throughput functional assays can improve the interpretation of variants and discuss the ongoing challenges and opportunities in implementing genomics in mainstream healthcare systems across the world.

This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research and clinical scientists, bioinformaticians and technology developers interested in understanding the impact of recent advances in genomics and technology on the care of patients with rare diseases. We encourage trainees to submit their research for discussion at the conference.

Topics will include:

• Diverse genomes as drivers of precision medicine
• Non-Mendelian forms of rare disease
• Treatment of rare diseases
• High throughput functional assays to improve variant interpretation

Cost: