About

/About
About2018-12-27T16:27:04+00:00

Research History

Disorders of fatty acid oxidation and of the carnitine cycle are an important cause of morbidity and mortality. With the introduction of expanded newborn screening, many of these conditions can be diagnosed and treated at birth, preventing several of the complications. Treatment of these conditions may include fasting-avoidance, diets low in fat containing specific fatty acids, and carnitine supplements. New types of therapies, nutritional and pharmacological, are being tested in humans and animal models of these conditions. Unfortunately, treatment is only partially effective for some conditions and we still do not understand completely the pathophysiology of end-organ damage caused by these inherited disorders.

Mission Statement

INFORM brings together the best and brightest genetic researchers and clinicians worldwide, working to discover treatments and cures for Fatty Acid Oxidation Disorders to improve the lives of our patients and their families.

Meet the INFORM Organizing Committee

Jerry Vockley, MD, PhD
Jerry Vockley, MD, PhD Co-Chair and Scientific Organizer
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.

Ute Spiekerkötter, MD
Ute Spiekerkötter, MD Co-Chair
Professor Spiekerkötter is Director of the Department of Pediatrics and Adolescent Medicine at the University Children’s Hospital in Freiburg, Germany. Part of the department is the Center for inborn metabolic diseases and the Laboratory of Genetic Metabolic Diseases for diagnostics and research in 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. She is also a pediatric endocrinologist and diabetologist. Prof. Spiekerkötter completed her Postdoctoral Fellowships at Vanderbilt University, Nashville, TN, USA and the University of Amsterdam, Amsterdam, the Netherlands. Her prior positions include Professor of Pediatric Metabolic Diseases and Head of the Metabolic Division at University Children’s Hospital in Duesseldorf, Germany.
Nicola Longo, MD, PhD
Nicola Longo, MD, PhDScientific Organizer
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.
Michael Bennett, PhD
Michael Bennett, PhD
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.
Melanie Gillingham, PhD, RD
Melanie Gillingham, PhD, RD
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.
Jean Bastin, PhD
Jean Bastin, PhD
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
Niels Gregersen, PhD
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.
Daniela Karall, MD
Daniela Karall, MD
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.
Keith McIntire
Keith McIntireINFORM Coordinator
As the Coordinator of INFORM, Keith is responsible for the day-to-day activities of the program and organization, overseeing fundraising, marketing and the development and maintenance of the INFORM and Virtual Tissue Bank websites. Keith has more than 30 years of corporate communications, marketing, fundraising and business administration experience. After graduating he operated his own design studio for several years focused on healthcare and industrial illustration and advertising until being asked by the Sisters of Charity to become the Art Director of the Public Relations Department of Seton Hill University. He then went on to become the Production Coordinator at Mercy Hospital of Pittsburgh, where he developed and introduce the first computer-based cost management system. Keith’s work gained national scope at an internet, data and voice company focused on communications
(Keith, Continued)
delivery to customers in 27 states and 70 markets on a dedicated end to end fiber optic network. Keith also worked for the Bayer Corporation, where he was a Travel, Gifts and Expense (TG&E) Administrator, educating and assisting more than 12,000 employees nationwide on database management and a web-based help site. He also held positions in the company’s corporate communications department, assisting in the Bayer 150-Year Celebration, and corporate controlling department on the remediation of a nationwide corporate audit for TG&E.
Keith has been an active member of the American Heart Association, where he has held volunteer leadership positions in the Greensburg and Pittsburgh chapters and was a board member for the Pittsburgh chapter. A major accomplishment in Keith’s career has been assisting cardiologist William Neches, MD as a Co-founder of the UPMC/Children’s Hospital of Pittsburgh, Dr. Bill Neches Heart Camp for Kids, one of the first camping programs nationally to offer a sleepover summer camping experience for children with congenital and/or acquired heart disease. He is currently the Director of what has become a model camp nationally. Keith has a degree in Graphic Design with a focus on advertising.

“The challenge with being on the cutting edge is that you are always dealing with things that didn’t happen yesterday.”

JERRY VOCKLEY, MD, PhD , INFORM, SCIENTIFIC ORGANIZER

“I appreciate that INFORM always provides us the most advanced, the most professional, and the most comprehensive information about defects of beta-oxidation.”

TOSHIYUKI FUKAO, PROFESSOR, GIFU UNIVERSITY, JAPAN

“INFORM brings together the best and brightest researchers and physicians from around the world to discuss
cutting edge research and best and new practices in fatty acid oxidation disorders”.

KEITH W. MCINTIRE, DEPARTMENT OF GENETICS COORDINATOR

Unlocking the Future

We are committed to discovering new FAOD treatments and cures to improve the lives of our patients and their families.

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