Kate Downes

Rare Disease Lead

Finding a Needle in a Haystack - panel discussion

Kate will join a panel of experts to respond to sound bites from people who have faced a challenging diagnostic odyssey, exploring how the delivery of rare disease genomic testing at the new NHS Genomic Laboratory Hubs can help people find answers to complex diagnostic questions.

Kate Downes is a Clinical Scientist and leads the delivery of rare disease genomic testing at the NHS East Genomic Laboratory Hub. Kate joined the Cambridge Genomics Laboratory at Cambridge University Hospitals in 2019 with a background in translational research of rare and complex disease genetics from working and studying at the Sanger Institute and then the University of Cambridge. Kate’s clinical aims align with her background – to implement translational research in rare and complex disease genomics and pharmacogenomics to provide personalised medicine for patients in the NHS.

My three wishes for the future of rare diseases are:

  • equity of access to genomic testing
  • equity of access to clinical trials
  • informed public conversations around genetics