Pulling genes from the pot – characterising novel causes of bone marrow failure

Series Name Department of Genetics and Genome Biology
Speaker Professor Tom Vulliamy, Professor of Molecular Biology, Queen Mary, University of London
Type Lectures & Talks
When 22 Nov 2017, 02:00PM - 03:00PM
Venue Bennett Link Lower Ground Floor LT
Open To University staff and students
For Bookings Contact Lisa Witherington 252 3659
Over the last 20 years or so, we have accrued a large cohort of patients who suffer from bone marrow failure, a heterogeneous life threatening condition. We have focussed our attention on the inherited, syndromic causes and identified a number of disease genes. I will discuss our three latest contributions. These illustrate the different core pathways that are involved (telomere maintenance, ribosome biogenesis and the DNA damage response) as well as the journey from gene discovery to molecular characterisation and patient care.