Top Story, Diagnostics

Stephen Hawking opening UK summit to address rare diseases

Stephen Hawking and the Cambridge Rare Disease Network have teamed up for a summit exploring diagnostics for rare diseases such as Hawking’s motor neuron disease.

Stephen Hawking is set to open the inaugural Cambridge Rare Disease Summit at the University of Cambridge Judge Business School in England on Monday.

Hawking, diagnosed with a motor neuron disease at age 21, has famously made his condition public, and the summit has been put together to address the reality of diagnosing rare diseases such as his.

The Cambridge Rare Disease Network described what the summit will entail:

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International experts will join local leaders to discuss innovative treatments for rare diseases. With more than 6000 rare diseases already identified, we each face a one in 17 chance of developing a rare disease; however recent advances in genetics and genomic medicine mean that scientists are better placed than ever before to diagnose, treat and potentially cure rare genetic disorders.

The summit will bring together more than 150 key stakeholders involved in rare diseases, ranging from those working on drug development, data sharing and parent support, to biotech entrepreneurs, pharmaceutical companies and start-ups.

“As parent to two children who were given a late diagnosis of the ultra rare Alström Syndrome, I think it’s crucial to foster dialogue, find solutions and increase awareness of the huge social and therapeutic unmet needs around rare diseases,” said Kay Parkinson, CEO of the newly-formed Cambridge Rare Disease Network, in a release.

Hawking (among others) will be joined by these keynote speakers: Dr. Matt Might, parent advocate, founder of NGLY1.org; Dr. Hermann Hauser of Amadeus Capital Partners; and Alistair Kent, director of Genetic Alliance UK and founder of Rare Disease UK.

Photo: Flickr user Lwp Kommunikáció