After receiving a PhD and postdoctoral training in developmental physiology and biochemistry, Dr. Bastin started his research career working on postnatal development of energy metabolism, with interest in nutritional and hormonal regulation of FAO in rat pups.
After switching to the field of inborn FAO and respiratory chain (RC) deficiencies, he started heading a team at INSERM-University Paris Descartes to explore pharmacological approaches based on previous observations in rats. More generally, his group is engaged in pre-clinical research with a particular interest for drug screening, personalized, genotype-based therapy, and possible applications to patients. In the last ten years, they have characterized the potential of bezafibrate, a widely prescribed hypolipidemic drug for correction of various
FAO and RC disorders, in panels of patient cells. Dr. Bastin's team also recently established beneficial effects of resveratrol, a natural polyphenol compound, in these disorders.
Niels Gregersen, PhD
International Network for Fatty Acid Oxidation Research and Management
Michael Bennett, PhD
Dr. Gillingham is an Assistant Professor in the Molecular and Medical Genetics Department, and the program coordinator for the Masters of Science in Clinical Nutrition at Oregon Health & Science University. Her research focus has been to investigate various nutritional therapies for fatty acid oxidation disorders including DHA supplementation, high protein diets, and MCT before exercise. Dr. Gillingham is currently conducting a randomized double-blind trial comparing Triheptanoin and MCT in long-chain fatty acid oxidation disorders.
UPMC Children’s Hospital of Pittsburgh - Medical Genetics - One Children's Hospital Drive
Faculty Pavilion 1st Floor - 4401 Penn Avenue - Pittsburgh, PA 15224
Keith McIntire - Coordinator, INFORM - mailto:firstname.lastname@example.org
Nicola Longo, MD, PhD
INFORM 2018 Agenda
INFORM 2019 September 1st & 2nd in Amsterdam!
Dr. Nicola Longo, M.D. Ph.D., is a Professor of Pediatrics and Pathology at the University
of Utah and Chief of the Division of Medical Genetics. He is the Director of the Training program in Biochemical Genetics and serves as Medical Co-Director of Biochemical Genetics and Newborn Screening Laboratories at ARUP Laboratories. Dr. Longo trained in Medical and Biochemical Genetics at Emory University in Atlanta, Georgia. He is Board Certified in Medical Genetics and Clinical Biochemical Genetics. Dr. Longo received his M.D. and Ph.D. in Molecular Biology and Pathology from the University of Parma Medical School in Italy. His research activity focuses on carnitine and defects of fatty acid oxidation.
After obtaining a PhD in organic chemistry, Professor Gregersen worked as a clinical biochemist in Copenhagen and later in Aarhus, where he directed a diagnostics laboratory
for Inborn Errors of Metabolism. Since 1974 he has participated in the development of the field of FAO deficiencies, including MCADD, SCADD, VLCADD and MADD, from urine and blood metabolites, enzymes and DNA, as well as cell biological studies of mitochondrial dysfunction and oxidative stress. In 1999 Professor Gregersen was appointed to his current position as professor of molecular medicine, which also included the organisation
of a Phd program in molecular medicine. During the last five years, Professor Gregersen
has obtained grants for three large protein mass spectrometers, which are now important instruments in investigating the cellular pathophysiology in FAO defects, as well as centra
to the institution's proteomic core-facility.
Professor Karall is responsible for inherited metabolic disorders in her current position
as a consultant to the Department for Child and Adolescent Medicine at Medical University
of Innsbruck. FAOD dietary research as well as other treatment options, such as anaplerotic therapies, are her primary areas of focus. Professor Karall's training included neuropediatrics and neonatology / pediatric intensive care, and she is an International Board Certified Lactation Consultant.
Ute Spiekerkötter, MD - Scientific Organizer
Professor Spiekerkötter is Director of the Department of Pediatrics and Adolescent Medicine
at the University Children's Hospital in Freiburg, Germany, where she utilizes the newest developments in the diagnosis and treatment of inborn metabolic disorders. To the Department also belongs the Laboratory of Genetic Metabolic Diseases for the diagnostics of inborn errors of metabolism. Prof. Spiekerkötter's research is focused on mitochondrial fatty acid oxidation disorders with a particular interest in disease pathogenesis and treatment development. Professor Spiekerkötter's specialized in Pediatrics and Metabolic medicine at University Children's Hospital Duesseldorf, Germany and completed her Postdoctoral Fellowships
at Vanderbilt University, USA and the University of Amsterdam, the Netherlands. Her prior positions include Professor of Pediatric Metabolic Diseases and Head of the Metabolic Unit
at University Children's Hospital in Duesseldorf, Germany.
Melanie Gillingham, PhD, RD
Jerry Vockley, MD, PhD - Scientific Organizer
Daniela Karall, MD
Jean Bastin, PhD
Cleveland Family Professor of Pediatric Research, School of Medicine
Professor of Human Genetics, Graduate School of Public Health
Chief of Medical Genetics, Children’s Hospital of Pittsburgh
Director of the Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh
Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his degree in Medicine and Genetics from the University
of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the University of Colorado Health Science Center, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair
of Medical Genetics in the Mayo Clinic School of Medicine.
Dr. Vockley is internationally recognized as a leader in the field of inborn errors
of metabolism. His lab has been responsible for identifying multiple new disorders since
the year 2000, many of them defects in mitochondrial energy metabolism, and he has published over 200 scientific articles in peer review journals. His current research focuses
on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease. Dr. Vockley has served
on numerous national and international scientific boards including the Advisory Committee
(to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He also serves as chair
of the Pennsylvania State Newborn Screening Advisory Committee and the American College
of Medical Genetics Therapeutics Committee. He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD). He is also a volunteer medical advisor
for several parent and family support groups including the Fatty Acid Oxidation Family Support Group, Save Babies through Screening, United Mitochondrial Disease Foundation,
and the Organic Acidemia Support Group. He speaks at multiple family support functions throughout the year for CanPKU and the NPKU Alliance.
Dr. Vockley is the co-founder and editor of the North American Metabolic Academy established by the SIMD to help educate the next generation of metabolic physicians
in the United States, and serves as associate editor for the journal Molecular Genetics and Metabolism. Dr. Vockley was recognized in 2002 as the Research Educator of the Year while at the Mayo Clinic. At the University of Pittsburgh, Dr. Vockley teaches in the both the Medical School and Graduate School of Public Health. Dr. Vockley has mentored numerous Ph.D. candidates, post-doctoral fellows, and undergraduate in their research.
Dr. Bennett is the Director of the Michael J. Palmieri Metabolic Laboratory and a Professor
of Pathology and Laboratory Medicine at the University of Pennsylvania School of Medicine
He has more than 34 years of training and experience in Clinical Chemistry with an emphasis on Pediatric Laboratory Medicine. Dr. Bennett is skilled in the development of methods for the measurement of metabolic intermediates for the diagnosis of inherited metabolic diseases using all forms of mass spectrometry. His research focuses upon the pathway of mitochondrial fatty acid oxidation and upon the diagnosis of patients with genetic defects of this pathway. Dr. Bennett received his PhD from University of Sheffield School of Medicine in Sheffield, UK and completed his Fellowship at the United Sheffield Hospital in Sheffield, UK.