All disease processes in humans have a genetic component, either inherited or acquired by somatic mutation during cell division. It is important to identify genes and mutations that cause disease, predispose families to diseases, or are acquired during disease progression as these are important diagnostic and prognostic markers. They also provide direct targets and biological pathways for therapeutic intervention.
We are interested in how and why these genetic mutations occur, how these changes cause cancer or cancer predisposition, and ways of better treating and monitoring these diseases. Our model diseases are typically, blood cell diseases, such as leukaemias, and lymphomas.
Our work on rare inherited cancers with unmet clinical needs has immediate effect, such as genetic diagnoses for family planning or selection of bone marrow donors.
My laboratory focuses on disease gene discovery and confirmation utilizing latest genomic technologies such as Next Generation Sequencing. We have accrued samples from over 100 families with predisposition to haematological malignancy (HM = leukaemia and lymphoma), which are invaluable resource for the identification of genetic and epigenetic changes leading to these and other cancers.
We have found additional genes that segregate with diseased individuals in some of these families and/or are mutated in sporadic samples. We continue to hunt for additional genes/mutations in families and sporadic samples. Functional studies on potential and identified genes in vitro, ex vivo and in vivo in mice continue to expose mechanisms for predisposition and progression to HM.