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Professor Avihu Boneh
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.
Prof Boneh is currently investigating the natural history and clinical outcomes of patients with inherited metabolic disorders, to provide information to parents and move towards the development of evidence-based therapies for these conditions. A second project is seeking to understand the relationship between protein and energy intake in patients with inherited metabolic diseases, with the aim of developing safe, optimal diets based on evidence to prescribe to affected children.
- VICIEM: a clinical and laboratory database on patients with inherited metabolic diseases.
- Protein to calorie ratio in diets of patients with inherited metabolic diseases.
- Neuropsychological outcome of patients with inherited metabolic diseases.
Barends M, Pitt J, Morrissy S, Tzanakos N, Boneh A. Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening. Mol. Genet. Metab. 2014. Epub ahead of print.
Humphrey M, Truby H, Boneh A. New ways of defining protein and energy relationships in inborn errors of metabolism. Mol Genet Metab. 112: 247-258, 2014.
Boneh A. Dietary protein in urea cycle defects: How much? Which? How? Mol. Genet. Metab. Epub ahead of print, May 2014.
Van Dongen S, Brown R, Brown GK, Thorburn DR, Boneh A. Diagnosis of thiamine-responsive and thiamine-non-responsive PDHC deficiency. J. Inherit. Metab. Dis. Reports. In Press, 2013.
Nation J, Humphrey M, Mackay M, Boneh A. Growth of children on a ketogenic diet: Does the protein to total energy ratio matter? J. Child Neurol. In Press, 2013. [Epub ahead of print]
Abacan MA, Boneh A. Use of Carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol. Genet. Metab. 109: 397-401, 2013.
Rodney S, Boneh A. Amino acids profiles in patients with urea cycle disorders at time of metabolic decompensation. J. Inherit. Metab. Dis. Reports 9: 97-104, 2013.
Gardeitchik T, Humphrey M, Nation J, Boneh A. Early clinical manifestations and eating patterns in patients with Urea Cycle Disorders. J Pediatr, 161: 328-332, 2012.
Goel H, Lusher A, Boneh A. Paediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population based study. JAMA 304: 1070-1072, 2010.
Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt JJ, Ranieri E, Yaplito-Lee J, Boneh A. Newborn screening by tandem mass spectrometry: a cohort study comparing outcome in screened and clinically diagnosed patients at 6 years of age. Pediatrics 124: e241-e248, 2009.