Other Cambridge events

Rare Disease: Treasure Your Exceptions!

This venue has step-free access.
Past event - 2018
16 May Doors open at 19:00
Start time 19:30
End time 21:30
Thirsty Cambridge, 46 Chesterton Road,
Cambridge CB4 1EN
Sold Out!
A rare disease is one that affects fewer than 1 in 2000 people. You might wonder why anyone would dedicate their life to studying a disease when only a handful of people would benefit from a cure? Why not study one of the big killers, such as cancer, tuberculosis or malaria? The significance of rare diseases is often not realised by people outside of the field, but they can provide valuable insights into the causes and progression of far more common diseases, help us better understand the fundamentals of modern science and medicine, and also lead to the development of life-saving drugs.

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.)
Intellectual disability is present in 0.5% of the population and affected individuals may have difficulty learning and developing skills for everyday life. My research goal is to understand the genetic changes that present in the DNA of these patients, in the hope of characterizing the causes. My team has conducted detailed analysis of the whole DNA genome in affected families, allowing them to identify novel genes that contribute to disease. I will explain the vital role their participation plays in a collaborative initiative to analyse the genomes of 10,000 patients in unprecedented detail.
Map data © OpenStreetMap contributors.