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June 25, 2015 @ 6:00 pm - 9:00 pm

Rare disease diagnostics: bringing genomics to the clinic

Genomic medicine is changing our world. The rapid decrease of the price of DNA sequencing has opened up numerous new possibilities, and is starting to enter clinical practice.

However, even though we understand the genetic causes of 50% of rare diseases, early diagnostics remains a challenge. In the UK, it still takes an average of 6 years and visits to 8 doctors to get a diagnosis, and many people never get an answer at all.

By scanning through entire genomes at once, DNA sequencing has the potential to change this. Come discuss the opportunities and the challenges of this new technology in a clinical setting, with some of the experts in the field.


  • Dr Caroline Wright, Project Manager, DDD project
  • Dr Gemma Chandratillake, Genetic Counsellor and Product Manager, Personalis
  • Dr Fiona Nielsen, Founder of DNAdigest
  • Dr Sobia Raza, Science Programme Lead, PHG Foundation

Invited organisations:

  • Genomics England
  • DDD project
  • PHG Foundation
  • DNAdigest


17.30: Doors open
18.00: Lecture/panel discussion and Q&As (10-15 min per speaker)
19.30: Wine reception
21.00: End of event


Cambridge Rare Disease Network


Cambridge Judge Business School
Trumpington Street
Cambridge, CB21AG United Kingdom
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