Dr Kate Downes

Rare Disease Lead Scientist, East Genomics Laboratory Hub

I am a Clinical Scientist, leading Rare Disease Genetic Services for NHS patients and families, across the East.

Better Genomics

How are we delivering better genomics for the future? Exploring Long Read (DNA) sequencing, diverse data and the power of scale.

My three wishes for the future of rare disease are: Equity of access; quicker genomic testing; and more coordinated care.