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New developments with fatty acid oxidation defects - Michael Bennett PhD, FRCPath, FACB, DABCC
New developments with fatty acid oxidation defects  
Emory Grand Rounds
The Childrens Hospital of Philadelphia
Philadelphia, PA  
Date
March 1st, 2010
Length
1:04:00

About the Presentation
On March 1, 2010, Dr. Michael J. Bennett of The Children's Hospital of Philadelphia presented "New developments with fatty acid oxidation defects" at Emory University's Grand Rounds in Atlanta, GA.

Presenter Biography
Michael J. Bennett Ph.D., FRCPath, DABCC, FACB, is a Professor of Pathology and Laboratory Medicine at the University of Pennsylvania and Director of the Metabolic Disease laboratory at The Children’s Hospital of Philadelphia. He also holds the Evelyn Willing Bromley Endowed Chair in Clinical Laboratories and Pathology at The Children’s Hospital of Philadelphia. He obtained his Ph.D. at the University of Sheffield School of Medicine, UK in the field of medical enzymology. His initial training was with the Sheffield Central Hospitals Group and the Association of Clinical Biochemists (UK). He was a Principal Biochemist at the Sheffield Children’s Hospital. He became a Member and eventually a Fellow of the Royal College of Pathologists (London). Prior to taking up his present position in Philadelphia in 2004, Dr Bennett was Professor of Pathology and Pediatrics at the University of Texas Southwestern Medical Center, holder of the Mary Quincy Parsons and Kelsey Louise Wright Professorship of Mitochondrial Disease research, and Director of Clinical Chemistry at Children’s Medical Center of Dallas.

A member of AACC since 1993, Dr Bennett has also been a member of the ACB since 1975. Locally Dr Bennett was active with the Texas Section AACC, and served many roles on the committee including Chair (1999) and Nominating Committee (1996-7, Chair, 2000) Membership Chair (1995). At the Division level, he is an active member of the Pediatric, Maternal Fetal Division where he has also served in numerous capacities on the Division Committee including Chair (1998-9), Chair, Scientific Program Committee (1994-6) and Chair, Nominating Committee (2000-1). He has served as a member of the Board of Directors of the NACB (2004-2006). He is presently a member of Board of Directors of AACC, a member of the NACB Education and Scientific Affairs Committee, a member of the Board of Directors of ABCC and a member of the 2008 Annual Meeting Organizing Committee.

Dr Bennett has received numerous awards including the Outstanding Clinical Chemist award, Texas section AACC (2000) the award for Outstanding Contributions to Pediatric Clinical Chemistry, Pediatric and Maternal-Fetal Division, (2001) the Distinguished Scientist Award of the NACB (2003) and the AACC award for outstanding contributions in a selected area of research (2007).

In addition to his role as an active Pediatric Clinical Chemist with an interest in all aspects of the subspecialty, Dr Bennett’s research activities include investigation of inborn errors of mitochondrial energy metabolism with a special emphasis on disorders of fatty acid metabolism. He was amongst the first to describe the fatal clinical phenotype and subsequently the first to identify neonatal metabolite abnormalities in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. These observations led eventually to the present expansion in expanded newborn screening by tandem mass spectrometry. Presently, most newborns in the USA are now screened pre symptomatically for MCAD deficiency and a number of other inborn errors of metabolism often with excellent clinical outcomes. Present research in this area covers study of the hyperinsulinism associated with short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency, an enzyme of fatty acid oxidation that is closely related to MCAD.

Dr Bennett has also devoted 25 years of research into study of the pathophysiology of a group of untreatable and devastating inherited neurodegenerative diseases known collectively as Batten disease. He has recently identified a novel anti neuronal apoptosis pathway involving modification of membrane-associated palmitoylated proteins in one of these diseases, the discovery of which may lead to the first rational therapeutic intervention. In these areas of research, he has published over 225 peer-reviewed scientific papers, reviews and book chapters and has been involved with the organization of numerous National and International congresses. Dr Bennett also reviews manuscripts for more than thirty medical and scientific journals and is currently on the editorial boards of Clinical Chemistry Journal, Molecular Genetics and Metabolism and is a corresponding editor for Journal of Inherited Metabolic Disease and the American Editor for Annals of Clinical Biochemistry.

Selected Publications by the Presenter
  • Jethva R, Bennett MJ, Vockley G. Short-chain acyl-coenzyme A dehydrogenase deficiency. Mol Genet Metab 95: 195-200, 2008.
  • Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identifications of mutations in C7orf10. Amer J Hum Genet 84: 604-609, 2008.
  • Chen J, Meng C-K, Narayan SB, Luan W, Bennett MJ. The use of deconvolution reporting software and backflush improves the speed and accuracy of data processing for urinary organic acid analysis. Clin Chim Acta 405: 53-59, 2009.
  • Dietzen, DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg U, Lo SF, Bennett MJ. National Academy of Clinical Biochemistry Laboratory Medicine Practice Guidelines: Follow-up testing for metabolic diseases identified by expanded newborn screening using tandem mass spectrometry; Executive summary. Clin Chem 55: 1615-1626, 2009.
  • Song Y, Selak MA, Watson CT, Coutts C, Scherer PC, Panzer JA, Gibbs S, Scott MO, Willer G, Gregg RG, Ali DW, Bennett MJ, Balice-Gordon RJ. Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD). PLoS ONE 4 (12): e8329, 2009
  • Ficicioglu C, Coughlin II CR, Bennett MJ, Yudkoff M. Very-long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry. J Pediatr ( In Press)
  • Bennett MJ. Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis   ( In Press)
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