The conference is 12th in the series of meeting on rare diseases and will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

It will feature the latest findings related to the genomic basis of rare diseases, providing insights into human biology, disease mechanisms and therapeutic approaches. This conference provides a multi-disciplinary forum for clinicians (consultants and trainees), research and clinical scientists, bioinformaticians and technology developers interested in understanding the impact of recent advanced in genomics and technology on the care of patients with rare diseases.