Avihu Boneh

Professor
Metabolic Research
Murdoch Childrens Research Institute
Australia

Professor Clinical Research
Biography

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.

Research Intrest

Biochemical Genetics,metabolic diseases and Neuropsychology

List of Publications
Rodney S, Boneh A. Amino acid profiles in patients with urea cycle disorders at admission to hospital due to metabolic decompensation. InJIMD Reports-Case and Research Reports, 2012/6 2012 (pp. 97-104). Springer Berlin Heidelberg.
Boneh A. Dietary protein in urea cycle defects: How much? Which? How?. Molecular genetics and metabolism. 2014 Oct 31;113(1):109-12.
Humphrey M, Truby H, Boneh A. New ways of defining protein and energy relationships in inborn errors of metabolism. Molecular genetics and metabolism. 2014 Aug 31;112(4):247-58.