The science and business of rare disease: Cambridge Rare Disease Summit

Published by GeneAdvisor

Published In 2015


With more than 6000 rare diseases already identified, we each face a one in 17 chance of developing a rare disease. They affect more 3.5 million people in the UK alone. How can we ‘bridge the gap’ to bring discoveries from the lab to the clinic sooner? And how can we ensure that the voices of patients and carers are central in rare disease research? Nearly 200 people from across the UK and abroad came together in Cambridge yesterday to discuss the opportunities and challenges in rare disease research. The inaugural Cambridge Rare Disease Summit saw scientists, investors, clinicians, policy-makers, patients and carers sharing their insights into the current initiatives and unmet needs around rare diseases.

International guests and local experts

A real feature of this summit was the diversity of speakers and delegates. A few highlights of the program were:

  • Dr Matt Might: When Matt was told that his son’s condition, NGLY1, was new to science, the implication was that nothing could be done: it was an ‘inactionable’ diagnosis. He proved the doctors wrong by finding other families with the same genetic disorder and working together to find answers for their children. He says that with any diagnosis, there’s always an option: to do science.
  • Dr Bruce Bloom: Bruce reckons it’s time to stop waiting for pharma companies to develop rare disease drugs and advocates instead for alternative funding strategies, such as a not-for-profit pharmaceutical company, or social impact bonds.
  • Dr Richard Scott: Richard is the Clinical Lead for Rare Disease at Genomics England, and will be chatting about their plans to transform the way NHS treats and supports patients with rare diseases through research, training for healthcare staff and creating the infrastructure for genomic medicine.
  • Prof Stephen Hawking: Cambridge’s best-known rare disease advocate shared a closing video that brought home the very personal struggles faced by people with rare disease and the impact that research can have on the lives of individuals.

The event was jointly hosted by the Cambridge Rare Disease Network (co-founded by our CEO Jelena Aleksic) and Findacure, two new groups seeking to unite the Cambridge rare disease community, building on the region’s strengths in research and biotechnology for the benefit of people with rare diseases.

GeneAdviser was a Gold sponsor of the Cambridge Rare Disease Summit, and our CEO, Jelena Aleksic, is one of their founding directors.