RAREsummit19

Dr. Gemma Chandratillake

Education and Training Lead, East Midlands & East of England Genomic Laboratory Hub

Talk: Creating genetic reports that are understood by non-specialists: a case study

Bio: Gemma is Education and Training Lead in genetics for the East of England. She is trained as a molecular geneticist and genetic counsellor. She has a long-standing interest in rare genetic diseases, having used both fruit flies and worms to model alpha-1-antitrypsin deficiency and Niemann-Pick type C disease in the lab. In Feb 2012, Gemma joined the Stanford University spinout company Personalis, Inc., and developed a clinical genomic sequencing test for the diagnosis of individuals with rare disease.

Since moving back to the UK, Gemma has focused on healthcare professional education in genetics, and coordinates the Masters course in Genomic Medicine at the University of Cambridge. At CamRARE she is interested in working with stakeholders (clinical, academic, industry, and families) to find creative ways to mainstream genomics within the NHS for the benefit of patients with rare disease.