Elaine Cochran, CRNP
Elaine Cochran is a certified pediatric nurse practitioner and certified nurse practitioner in advanced diabetes management. She has worked with patients with extreme forms of insulin resistance and lipodystrophy since 2000. She was a lead associate investigator in the initial metreleptin trial that resulted in the drug’s approval, and currently is an investigator in a metreleptin post-approval registry. She has written over 40 manuscripts on syndromes of insulin resistance, the use of U-500 insulin in patients with high dose insulin requirements, and the use of metreleptin in the treatment of partial and generalized lipodystrophy.
ABHIMANYU GARG, MD
Abhimanyu Garg, M.D. is a professor of Internal Medicine and is Chief, Division of Nutrition and Metabolic Diseases at UT Southwestern. He is Director of Lipid Services at Parkland Memorial Hospital and UT Southwestern Internal Medicine Subspecialty Clinic. He holds a Distinguished Chair in Human Nutrition Research. He is also the Director of Metabolic Diseases at the Center for Human Nutrition.
He has been evaluating patients with various types of lipodystrophies for over 30 years. He has carefully characterized the clinical and metabolic features of various types of lipodystrophies, including reporting of novel syndromes, which had not been previously recognized. He has used the state of the art genetic technology to discover many novel genes for these disorders.
Dr. Garg’s group was the first to link the gene for familial partial lipodystrophy of the Dunnigan variety to the long arm of chromosome 1, facilitating the discovery of lamin A/C (LMNA) gene for this disorder. He also identified deficiency of AGPAT2 enzyme, which is critical for triglyceride and phospholipid biosynthesis, as the cause of congenital generalized lipodystrophy, type 1. His group also linked peroxisome proliferator-activated receptor-γ (PPARG) gene, the key adipocyte differentiation transcription factor, to familial partial lipodystrophy. His team has also identified the second locus for mandibuloacral dysplasia, i.e., zinc metalloproteinase (ZMPSTE24), that is responsible for post translational processing of prelamin A to its mature form lamin A. His team uncovered a novel autosomal recessive autoinflammatory syndrome that causes joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) and identified the defective gene as proteasome subunit, beta-type 8 (PSMB8) which encodes a subunit of the immunoproteasome responsible for generating immunogenic epitopes presented by the major histocompatibility complex (MHC) class I molecules. Recently, his laboratory has reported ADRA2A gene mutation in a family with atypical familial partial lipodystrophy.
He demonstrated that patients with generalized lipodystrophy have profound leptin deficiency and proposed that leptin deficiency might contribute to the metabolic complications in the disorder. This led him to initiate a collaborative trial with the NIDDK that demonstrated dramatic improvement in hyperglycemia, dyslipidemia, and fatty liver with leptin therapy.
Dr. Garg served as the Associate Editor of the Journal of Clinical Endocrinology and Metabolism from 2004-2009.
Elif Oral, M.D.
Dr. Elif Oral, M.D., is an Associate Professor in the Division of Metabolism, Endocrinology and Diabetes (MEND) at The University of Michigan. She completed her medical education in her home country of Turkey at the University of Istanbul. In 1996, she completed her residency in Internal Medicine at Sinai Hospital of Detroit (Michigan). She then pursued a Fellowship in Endocrinology, Metabolism and Diabetes at the National Institutes of Health where she also chose to stay as a Senior Fellow under the mentorship of Drs. Simeon Taylor and Phillip Gorden in the Diabetes Branch of NIDDK. Since joining The University of Michigan in 2002 as an Assistant Professor of Medicine, along with her regular faculty responsibilities, Dr. Oral also completed a Masters of Science Degree in Clinical Research Design and Biostatistics at the School of Public Health. Her clinical interests are in insulin resistance, obesity, lipid disorders, and diabetes. Her research focuses on the importance of adipocytes in human metabolism and adipocyte hormones such as leptin. She is best known for her work showing the remarkable efficacy of leptin in rare lipodystrophy syndromes. These studies provided the basis for her current studies investigating the effects of leptin in treatment of non-alcoholic fatty liver disease. In addition to her roles as physician, educator, and researcher, Dr. Oral is also the Medical Director of the UMHS Bariatric Surgery Program and the Post-Bariatric Clinic.
Sonia Rehal, PhD.
Sonia Rehal received her undergraduate training at McGill University (physiology) and her graduate training at the University of Calgary (physiology). She is currently pursuing a postdoctoral fellowship at Sloan Kettering Cancer Center, studying the mechanisms of vascular dysfunction in obesity.
Furthermore, Sonia Rehal has partial lipodystrophy (FPLD2). Her sister and mother were taken away by this disease and she herself suffers with medical issues. An unexhaustive medical history includes diabetes, dyslipidemia, hypertension, atrial fibrillation, history of stroke and heart attack and an implantable cardiac device. She is a key example of how laminopathies can affect a multitude of organ's systems.