Research Expertise

Disorders of mitochondrial fatty acid oxidation with an emphasis on control of insulin secretion by short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. The Neuronal-Ceroid Lipofuscinoses. A stufdy of the function of CLN3P, the protein responsible for Juvenile Batten Disease

Clinical Expertise

Pediatric Clinical Chemistry with an emphasis on inborn errors of metabolism. Director of a full service metabolic disease laboratory.

Itmat Expertise

1. Define genetic defects of mitochondrial fatty acid oxidation, identify diagnostic biomarkers and study intramitochondrial compartmentalization of matrix proteins
2. Study basic elements of neuronal death in neuronal ceroid-lipofuscinosis ( Batten disease) and develop an animal model to test therapies to prevent neuronal death

Education

BSc (Physiology & Biochemistry), Reading University, UK, 1972
PhD (Clinical Enzymology), University of Sheffield School of Medicine, 1976

Specialty Certification

Royal College of Pathologists ( London), 1984
American Board of Clinical Chemistry, 1994
Royal College of Pathologists, 1996
National Academy of Clinical Biochemistry, 2000

Postgraduate Training

Basic Grade Biochemist, Sheffield Central Hospitals, UK, 1975-1978

Awards and Honors

Junior Members Award
Association of Clinical Biochemists, 1978
CP Stewart Memorial Award
Association of Clinical Biochemists, 1987
Visiting Professor
University of Padova, Italy, 1992-2003
Research Award
Burroughs Wellcome Travel, 1993
Outstanding Speaker Award
American Association for Clinical Chemistry
Also awarded 2005, 2007, 2008, 2009, 2013, 1996
Visiting University Scholar Lectureship
James Madison University, 1996
Award for Outstanding Contributions to Clinical Chemistry, Texas section American Association for Clinical Chemistry, 2000
Award for Outstanding Contributions to Pediatric Clinical Chemistry, Pediatric division of American Association for Clinical Chemistry, 2001
Distinguished Scientist award of the National Academy of Clinical Biochemistry, 2003
Award for Outstanding Contributions in a Selected Area of Research, American Association for Clinical Chemistry, 2007
The Transatlantic Lectureship Award of the Association for Clinical Biochemistry (UK), 2008
The Inaugural Carl & Sue Smith Lecturship in Pediatric Laboratory Medicine, Washington University School of Medicine in St Louis, 2009
12th annual WH Hamilton Lecture, Temple University School of Medicine, 2011
External Examiner in Chemical Pathology, Chinese University of Hong Kong, 2015
NACB Professor Alvin Dubin Award for Service to NACB and the profession, 2015
Miriam Reiner Award Lecture, AACC Capital Section, 2017
AACC - President, 2017-2017
4th Ching-Nan Ou Lectureship at Texas Children's Hospital/Baylor College of Medicine, 2017
ACB/AACC Transatlantic Lectureship Award, 2017
4th Arthur G. Weinberg Lectureship at UT Southwestern, 2017

Memberships and Professional Organizations

Association for Clinical Biochemistry (UK), 1975 - Present
Sheffield Graduate Scientists Group UK, 1980 - 1981
Society for the Study of Inborn errors of Metabolism, 1982 - Present
Association for Clinical Biochemistry, UK, 1982 - 1983
Sheffield Graduate Scientists Group UK, 1983 - 1984
The Royal College of Pathologists - United Mitochondrial Disease Foundation, 1984 - Present
Society for Pediatric Research, 1989 - 2012
Society for Inherited Metabolic Disorders - North American Metabolic Academy, 1989 - Present
American Association for Clinical Chemistry, 1992 - Present
AACC, 1994 - Present
AACC, 1994 - Present
American Association for Clinical Chemistry - Pediatric Division AACC, 1994 - 1996
Texas Section American Association for Clinical Chemistry, 1995 - Present
American Association for Clinical Chemistry - Pediatric Division AACC, 1996 - 1997
University of Texas Southwestern - Department of Pathology Research Seminar Series, 1996 - 1998
Texas Section American Association For Clinical Chemistry, 1997 - 1998
Texas Section American Association for Clinical Chemistry, 1998 - 1999
American Association for Clinical Chemistry - Pediatric Division AACC, 1998 - 1999
National Institutes of Health - Medical Biochemistry Study Section, 1999 - 2002
University of Texas Southwestern - Human Metabolism & Clinical Biochemistry Lecture Series, 2000 - 2004
Texas Section American Association for Clinical Chemistry, 2000 - 2001
American Association for Clinical Chemistry - Pediatric Division AACC, 2000 - 2001
National Academy of Clinical Biochemistry - The Academy of AACC, 2003 - 2006
National Institutes of Health - Gene Therapy & Inborn Errors, 2003 - 2004
American Heart Association - National Review Committee BASIC1, 2004 - 2005
American Heart Association - Western Affiliates, 2004 - Present
American Heart Association, 2004 - 2005
Save Babies Through Screening Foundation, 2004 - Present
National Academy of Clinical Biochemistry, The Academy of AACC, 2005 - 2009
National Academy of Clinical Biochemistry, The Academy of AACC
LMPG on Expanded Newborn Screening, 2005 - 2009
National Institutes of Health - Special Emphasis Panel, 2005 - Present
March of Dimes - Newborn Screening Quality Improvement Workgroup, 2005 - 2009
AACC Press, 2005 - Present
American Board of Clinical Chemistry (ABCC), 2006 - 2012
AACC National, 2006 - 2008
American Board of Clinical Chemistry (ABCC), 2006 - 2012
AACC National, 2007 - 2008
AACC National - Pediatric Range Committee, 2007 - 2013
American Board of Clinical Chemistry (ABCC), 2008 - 2011
American Board of Clinical Chemistry (ABCC), 2011 - 2012
American Board of Clinical Chemistry (ABCC), 2011 - 2012
AACC National - Awards Committee, 2011 - 2015
AACC National, 2011 - 2012
Society for Inherited Metabolic Disorders, 2011 - Present
National Academy of Clinical biochemistry, The Academy of AACC, 2012 - Present
National Academy of Clinical Biochemistry, The Academy of AACC, 2013 - Present
AACC National Finance Committee, 2013 - 2015
AACC Van Slyke Foundation, 2013 - Present
AACC National - AACC Branding, 2014 - Present
AACC National - New Association Journal, 2014 - Present
AACC National - International Strategic Plan, 2014 - Present
AACC National - Task Force on Laboratorian, 2014 - Present
National Academy of Clinical Biochemistry, The Academy of AACC, 2014 - Present
AACC National -Long Term Sustainability CCTC, 2014 - Present
AACC, 2017 - 2018
AACC, 2017 - 2018
AACC, 2018 - Present

Web Links

Selected Publications