Dr 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.
He is also involved in a pharmacogenetic study, investigating the role of a genetic polymorphism in the efficacy of a drug used to treat preschool wheeze. Specifically, a randomised placebo controlled trial of the intermittent use montelukast is being stratified according to a genotype (ALOX5) that influences how children respond to this leukotriene antagonist.
Additional interests include the molecular basis of glucose-6 phosphate dehydrogenase deficiency, one of the most common human genetic disorders due to the resistance it confers during malaria infection. This work has lead to an ongoing study of the genetic factors that influence disease severity in a large cohort of sickle cell disease patients being carried out as a collaborative study between London, Paris and Cotonou in West Africa.