A/Professor Avihu Boneh

contact details

A/Professor Avihu Boneh
Genetic Health Services Victoria
Murdoch Childrens Research Institute
Royal Children's Hospital
Flemington Road
Parkville Victoria 3052

biography

Avihu Boneh graduated from the Hadassah Hebrew University Medical School in Jerusalem, Israel. His MD thesis dealt with Glycogen Synthetase in Diabetes Mellitus. He trained in Paediatrics at Hadassah University Hospital, Jerusalem. He then did a fellowship in Biochemical Genetics with Professor Charles Scriver at Montreal Children's Hospital and graduated from McGill University with a PhD in Experimental Medicine (Biochemical Genetics), investigating X-Linked Hypophosphataemia.

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, Avihu took the position of head of Metabolic Genetics at VCGS, MCRI and the Royal Children's Hospital. He is a member of the HGSA newborn-screening sub-committee, the VCGS newborn screening advisory committee, the Steering Committee of the European Registry and network for Intoxication type Metabolic Diseases (Scientific Collaborating member) and the International Guideline Group for Glutaric Aciduria type I.

research focus & interest

• The natural history of inborn errors of metabolism: Given the rarity and the complexity of these disorders, it is very important to accurately record clinical data on these patients, including dietary data, neuropsychological assessments etc. Collecting these longitudinal data on as many patients as possible is important in order to better understand the natural history of the diseases, provide better information to parents and hopefully design better treatments.
• Safe protein and calorie intake in diets for patients with inborn errors of metabolism: There are no evidence based guidelines for the low-protein diets prescribed for patients with inborn errors of metabolism and current guidelines are based on experience only. Evidence based guidelines for protein intake can only be devised through a proper analysis of patients' energy requirements, safe protein intake and assessment of the significance of the ratio between the two factors, both when the child is 'well' and 'unwell' with an intercurrent illness.
• The role of perturbation of Signal Transduction in the pathogenesis of these disorders: Signal transduction is the mechanism by which extra cellular signals exert their intracellular effects. Perturbation of this biological process may act as the pathogenetic mechanism underlying these diseases.

publications

Hui J, Kirby DM, Thorburn DR, Boneh A. Decreased respiratory chain enzyme activities in 'non-mitochondrial' diseases. Develop. Med. Child Neurol., 48: 132-136, 2006. Tier 2??

Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Pleffer C, Fletcher J, McGill J, Boneh A.  The outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. The Lancet, 369: 37-42, 2007.

Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J. Pediatr. 150: 407-411, 2007.

Pagliarini DJ, Calvo SE, Chang B, Sunil A. Sheth SA, Scott B. Vafai SB, Ong S-E, Walford G, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK. Integrated Analysis of the Mitochondrial Proteome Reveals Insights into Translational Control and Complex I Assembly. Cell 134: 112-123, 2008.

Gibson K, Halliday JL, Kirby DM, Yaplito-Lee J, Thorburn DR, Boneh A. Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics, 122, 1003-1008, 2008.

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.

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.

Gardeitchik T, Humphrey M, Nation J, Boneh A. Early clinical manifestations and eating patterns in patients with Urea Cycle Disorders. Submitted to J Pediatr, 2011.