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May 14 @ 7:00 pm - 9:00 pm

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

We are hosting 2 evening events at Thirsty Cambridge on 14 and 16 May for the fabulous Pint of Science festival  #pint18. This an event which some of our team were involved in in Cambridge during its first year of conception and have watched it expand into 300 cities around the world sharing the wonders of the lab with the general public in the comfort of their local pub.

Tonight’s event features talks from 3 great speakers:


Living with a Rare Neurological Disease: A Dad and Genetic Scientist Explores the Patient and Parent’s Perspective

Dr Charles Steward (Clinical Genomics at Congenica)
Genome sequencing and 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.

Snip, snip, snip: Correcting Defects in the Genetic Blueprint

Dr James Thaventhiran (MRC Clinician Scientist Fellow, Uni of Cam, Dept of Medicine)
Many rare diseases are caused by a defect in the genetic blueprint that carries the instruction manual for life. Sometimes the mistake can be a single letter in the three billion letters that make up the genome, with devastating consequences. Gene editing using ‘molecular scissors’ that snip out and replace faulty DNA could provide an almost unimaginable future for some patients: a complete cure.

“It’s Not All in My Head!”: The Complex Relationship between Rare Diseases and Mental Health Problems

Rebecca Nunn (Medical Student at University of Cambridge)
Rebecca Nunn, Medical Student at the University of Cambridge and owner of a rare disease, argues that the common experiences of rare disease patients have impacts upon the way in which their psychiatric care should be offered and managed, and that sensitivity and understanding surrounding these issues should be considered a necessary part of effective care for rare disease patients.

Has disabled toilet and access. Snacks and food will be available at the the venue o from 6pm if people want to eat beforehand.