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Identifying the genetic and epigenetic changes that cause human disease provides an understanding of the disease process and opportunities to develop new forms of diagnosis and treatment. Eamonn’s laboratory is undertaking research to understand (a) the genetic mutations responsible for familial and non-familial kidney cancers and for rare recessively inherited developmental disorders and (b) the role of epigenetic alterations in human cancers and in developmental disorders such as Beckwith-Wiedemann syndrome.