Prof Avihu Boneh graduated from the Hadassah Hebrew University Medical School in Jerusalem, Israel. Following his training in paediatrics at Hadassah University Hospital, he undertook a fellowship in Biochemical Genetics at Montreal Children's Hospital and graduated from McGill University with a PhD in Experimental Medicine (Biochemical Genetics). He then worked as a consultant in paediatrics with a special interest in inborn errors of metabolism at Hadassah Mt Scopus hospital, Jerusalem. In 1997, Prof Boneh became head of Metabolic Genetics at the Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and The Royal Children's Hospital in Melbourne.

His main interests are the natural history of inherited metabolic disorders and the role of signal transduction –the mechanism by which signals from outside the cell or within the cell trigger a cellular response– in the pathogenesis of these disorders. Prof Boneh is a member of the Human Genetics Society of Australasia (HGSA) newborn-screening sub-committee, the Advisory Committee of the European Registry and network for Intoxication type Metabolic Diseases and the European Registry of Homocystinuria (Scientific Collaborating member) and the International Guideline Group for Glutaric Aciduria type I.