Cutting-edge genomic science and rare disease clinical medicine

Our 17th conference on rare diseases will discuss the latest findings in genetic mechanisms of disease and will highlight advances in therapeutic approaches.

This meeting provides an excellent multi-disciplinary forum for clinicians, research and clinical scientists, and bioinformaticians interested in recent advances in genomics and understanding the impact on the care of patients with rare diseases.

This year’s conference will focus on the genomic basis of rare diseases, and will explore new technologies and ‘omics’ approaches in rare disease research. Strategies for translating advances into clinical care and opportunities to implement genomic medicine into healthcare systems will be discussed. Potential approaches to preventing rare disease, and whether prevention should be the goal, will also be explored.

The programme will include invited talks, oral presentations selected from abstracts, posters, poster pitches, and networking opportunities for a highly interactive meeting. This conference will be a hybrid meeting – with onsite or virtual attendance.