Pint of Science: Rare Disease: The Genomic Revolution, Searching for a Cure for the 1 in 17

Grab a drink and discover how research is changing how we can diagnose and understand rare diseases

Location: (click for map)

Thirsty 46 Chesterton Road, Cambridge CB41EN


Wed 16th May, 7:30 pm to 9:30 pm

Rare diseases are conditions which affect fewer than 1 in 2,000 people but 1 in 17 are affected at some stage in their lives, some 3.5 million in the UK alone. 75% of rare diseases affect children and include rare cancers and well known conditions, such as cystic fibrosis and Huntington’s disease. 80% of rare diseases have a genetic cause, sometimes a single spelling mistake in the three billion letters that make up the human genome, yet it can have devastating consequences for those living with the rare disease and their families. Charles Steward, from Congenica, based at the Wellcome Genome Campus, will share his personal story of how the 100,000 genomes project has led to breakthroughs in shortening the diagnostic odyssey and informing care for some with rare diseases. Charles, genetic scientist of 25 years and father to a child with a rare neurological condition, is involved in the project as a participant, parent and consultant. He explores the ups and downs faced by families trying to search for and understand the cause of their child’s disease.

Doors open at 7pm. Tickets: £4

Please note that this venue has a disabled toilet. Food trucks will be outside the venue from 6pm.

More information:

Pint of Science