Dr Gemma Chandratillake
Chair, Cambridge Rare Disease Network
I’m a geneticist, Chair of the British Society for Genetic Medicine, and passionate about improving healthcare for those affected by rare conditions.
Gemma trained as a molecular geneticist (PhD) and Genetic Counselor (CGC ABGC). At the Stanford spinout Personalis, she developed a clinical genomic sequencing test to diagnose rare conditions. Gemma directed molecular genetics courses for genetic counseling students at Stanford and California State Universities. She is the Chair of the British Society for Genetic Medicine and the Cambridge Rare Disease Network. As Course Director for the Genomic Medicine Masters programme at the University of Cambridge and Education & Training Lead for NHS East Genomics, Gemma works passionately to facilitate the mainstreaming of genomics within the NHS.
Diagnostic Advances: Beyond the Genome
Get to know your omics: Metabolomics, transcriptomics, proteomics and AI! Opening up a new level of diagnostic potential for rare diseases.
My three wishes for rare disease are:
- Faster diagnosis
- Greater coordination of care
- Patient-centred research