Professor Tom Vulliamy combines research into genetic diseases with teaching and training of students and doctors. The main focus of his research is the identification of disease genes that cause bone marrow failure. Positional cloning projects involving families with dyskeratosis congenita have shown that molecules involved in telomere maintenance are defective in this disease. Functional characterisation of these mutations describes how defective telomeres result in a premature aging phenotype in humans. The work has been translated into molecular diagnosis for at risk individuals. Next generation sequencing strategies are currently being employed in further gene discovery projects.

Patients with inherited bone marrow failure syndromes have a significantly increased risk of developing cancer, particularly acute myeloid leukaemia. This link has lead us into studying familial forms of leukaemia. This has helped define the molecular basis of this disease as well as identifying novel candidate genes.