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Clinician’s Panel Discussion #1

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Dr. Melanie Gillingham, Dr. Eric Goetzman, Dr. Pamela Tucker answer questions from International Metabolic Conference attendees.

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About the Speaker

Dr. Melanie Gillingham

Dr. Melanie Gillingham

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders. In 2014, a group of FAO researcher’s under the leadership of Dr. Jerry Vockley founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). The INFORM continues to host annual science meetings and work on clinical trials and funding for projects within the group’s members.

Most recently, Drs. Vockley and Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham has recently been awarded an NIH grant to conduct a larger natural history study of LCHAD retinopathy with a goal of recruiting 44 subjects over the next 2 to 4 years from the INFORM network.

Dr. Eric Goetzman

Dr. Eric Goetzman

Following his undergraduate studies at the University of Minnesota-Morris, Eric Goetzman obtained a PhD in Medical Genetics from the University of Alabama-Birmingham, where he investigated fatty acid and metabolism and rare mitochondrial disorders.  After completing post-doctoral training at the Mayo Clinic and UPMC Children’s Hospital of Pittsburgh, he joined the research faculty of the University of Pittsburgh School of Medicine in 2006.  He is currently an Associate Professor of Pediatrics where he continues to research various aspects of energy metabolism, mitochondrial function, and rare metabolic diseases.

Dr. Pamela Tucker

Dr. Pamela Tucker

Following her undergraduate studies at Duke University, Pamela Tucker obtained her Doctor of Physical Therapy degree from Franklin Pierce University. Her clinical experience includes the management of outpatient and inpatient rehabilitation of infant, pediatric, and adult populations. She is a senior Physical Therapist at SUNY Upstate Medical University with specialties in pediatric, neurological, vestibular, and concussion interventions. Her research interests include physical therapy interventions for children with inherited metabolic disorders, aquatic physical therapy, concussion management, and robotic-assisted mobility training.

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