This year’s theme is ‘Discovery and Care’; we aim to explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

The conference 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 the opportunities and challenges for clinical practice.

This year’s meeting will focus on the emerging role of non-coding variants in disease, how mosaicism and imprinting impact health and disease, and the emerging technologies used to understand the mechanisms of rare disease. We will also include a session on rare disease clinical trials and will debate current ethical issues in genomic medicine.

This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research 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.