Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease

Owing to the ongoing situation with covid-19, this event will be organised as a virtual conference.

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 focus on large-scale whole genome sequencing studies that impact on our understanding of rare diseases. There will be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions that interrogate non-coding variation in disease, explore new therapeutic approaches to rare diseases, and discuss the challenges and opportunities in implementing genomics in mainstream healthcare.

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.

Please find more information following this link

  • Registration link here
  • Download the Programme here