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May 16 @ 7:00 pm - 9:00 pm

Pint of Science Festival: Rare Disease, Treasure Your Exceptions!

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:


New Finding! Mutations outside of genes contribute to severe neurodevelopmental disorders

Patrick Short (PhD Student, Wellcome Trust PhD in Mathematical Genomics and Medicine)
The Deciphering Developmental Disorders project has sequenced the genome from nearly 10,000 families across the UK and Northern Ireland with one or more affected children. Despite these efforts, more than 50% of the families in this study remain without a genetic diagnosis.
Patrick will share new findings about how mutations are disrupting the expression of important genes in early brain development and highlight some of the global efforts to share data and sequence the genomes of hundreds of thousands of families

Rheum with a view: Through the looking glass into rare joint diseases

Dr Jagtar Singh Nijjar (NIHR Clinical Lecturer in Rheumatology at the University of Cambridge)
Rare inflammatory bone diseases cause significant pain and swelling of bones
and joints. In partnership with the NIHR BioResource Jagtar will establish a
national patient cohort that will allow us to look into the genetics of these
diseases and also carry out clinical trials. In this talk he will explore what rare
diseases can teach us about the common and the immense power of patient
cohorts and patient participation in research.

Unpicking the Genetic basis of Intellectual Disability

Professor Lucy Raymond (Professor of Medical Genetics and Neurodevelopment and Honorary Consultant at the Cambridge Institute for Medical Research, University of Cambridge. Her group aim to identify and understand the genetic causes of intellectual disability and their work has identified a number of new syndromes and greater understanding of the sequence variation of the human genome.)
The venue has disabled access and toilet. The @steakandhonour food truck will be outside the venue from 6pm if people want to arrive early to get food.



May 16
7:00 pm - 9:00 pm
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Pint of Science and Cambridge Rare Disease Network