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Genomics of Rare Disease
February 6, 2020 @ 8:00 am - 5:00 pm
Exploring how genomic research translates into clinical care and informs our understanding of the biology of rare disease
We are pleased to announce the 14th in our series of meetings on rare disease, which will present an exciting blend of genomic science and clinical medicine. This conference 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 the opportunities and challenges for 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 also be the opportunity for bioinformaticians working in this area to showcase the innovative tools that they have developed. We will also include sessions exploring regulatory regions beyond the coding regions of the genome, and explore the new therapeutic approaches to rare diseases.
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.