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Translational Medicine and Human Genetics

Daniel Rader Daniel Rader

Cooper-McLure Professor of Medicine

Contact Information

3400 Civic Center Blvd, Building 421
11-125 Smilow Center for Translational Research
Philadelphia, PA 19104-5158
Office: 215-573-4176
Fax: 215-573-8606
Clinic: 215-615-8659
Email: rader@mail.med.upenn.edu

Dr. Rader is Cooper-McClure Professor of Medicine and Pharmacology and Chief of the Division of Translational Medicine and Human Genetics in the Department of Medicine at the Perelman School of Medicine at the University of Pennsylvania. He is also Associate Director of Penn's Institute for Translational Medicine and Therapeutics. Dr. Rader's basic research laboratory focuses on genetic and pharmacologic regulation of lipoprotein metabolism and atherosclerosis, and he directs a translational research program focusing on human genetics of lipid disorders and atherosclerosis and novel approaches to treatment of dyslipidemia and regression of atherosclerosis. Dr Rader received his undergraduate degree from Lehigh University and his medical degree from the Medical College of Pennsylvania. He completed a residency in internal medicine at Yale-New Haven Hospital and a fellowship in lipid metabolism at the National Heart, Lung, and Blood Institute. He is a member of the American Society of Clinical Investigation, the Association of American Physicians, and the Institute of Medicine and an Associate Editor of the Journal of Clinical Investigation.
Reed E. Pyeritz

Reed E. Pyeritz, MD

Professor of Medicine

Contact Information

3400 Spruce Street
11 Penn Tower, Suite 1115
Philadelphia, PA 19104
Office: 215-662-4740
Fax: 215-614-0298
Email: reed.pyeritz@uphs.upenn.edu

Dr. Pyeritz focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue; and, ethical, legal and social implications of the human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).
Garret A. FitzGerald

Garret A. FitzGerald, MD 

Robert L. McNeil, Jr., Professor in Translational Medicine and Therapeutics

Contact Information

Institute for Translational Medicine and Therapeutics
Room 10-122, Smilow Center for Translational Research (SCTR)
34th and Civic Center Boulevard, Building 421
Philadelphia, PA 19104-5158
Office: (215) 898-1185
Fax: (215) 573-9135
Email: garret@upenn.edu

Dr. Garret FitzGerald is Chair, Department of Pharmacology and Director of the Institute for Translational Medicine and Therapeutics (ITMAT). He is PI of the Penn CTSA. His research laboratory focuses on the biology of eicosanoids and the role of peripheral molecular clocks. His work contributed substantially to the discovery and development of low dose aspirin for cardioprotection and was the first to forecast and then elucidate the cardiovascular hazard from NSAIDs. He now leads the international PENTACON consortium, a systems based translational effort increasingly to personalize the predictive efficacy and hazard of NSAIDs.
Katherine L. Nathanson

Katherine L. Nathanson

Associate Professor of Medicine

Contact Information

351 BRB II/III
421 Curie Blvd
University of Pennsylvania
Philadelphia, PA 19104
Office: (215) 662-4740
Fax: (215) 614-0298
Email: knathans@mail.med.upenn.edu

Dr. Nathanson's research focuses on the genetics of human cancer, both germline changes which confer susceptibility to cancer and somatic genetic changes associated with outcome.

Her research projects fall into several areas:
1) Identification and characterization of germline genetic changes associated with breast cancer susceptibility. These projects utilize two sample sets, a large clinical database of high risk breast cancer patients and a case-control study of white and black patients with breast cancer. Currently the projects in the laboratory focus on resequencing of BRCA1-associated genes as candidate breast cancer susceptibility genes in patients with high risk breast cancer and studying copy number variation as associated with potential susceptibility to high risk breast cancer in families with multiple cases of breast cancer.
2) Identification of genetic changes associated with testicular cancer susceptibility in case-control sample set. Dr. Nathanson recently completed a successful genome wide association study in testicular cancer, and is in the process of designing and doing a number of follow-up studies.
3) Identification of somatic genetic markers in melanoma as determinants of response to therapy. The projects in the laboratory focus on several aspects of melanoma genetics including genotyping patients to determine targeted therapy selection, using genetics and genomics to sub-set melanomas, as well as understand response to therapy, and identify novel genes important in melanoma progression.

Emma A. Meagher

Emma A. Meagher, MD

Associate Professor

Contact Information

Divison of Experimental Therapeutics
10-101 Smilow Center for Translational Research (SCTR)
Perelman School of Medicine
34 Civic Center Blvd
Philadelphia, PA 19104
Office: (215) 662-2174
Fax: (215) 614-0378
Email: emma@upenn.edu

Dr. Meagher is Director for Translational Research Education in the Institute for Translational Medicine and Therapeutics (ITMAT) and Executive Chair of the Penn IRB. Her research interests include evaluation of novel therapeutics for lipid disorders. Her clinical practice is in the area of cardiovascular risk modification with an emphasis on management of dyslipidemia, hypertension and women's cardiovascular health.

Richard L. Dunbar

Richard L. Dunbar, MD

Assistant Professor

Contact Information

Institute for Translational Medicine and Therapeutics (ITMAT)
8046 Maloney Building
3600 Spruce Street
Philadelphia, PA 19104
Office (Clinic): (215) 615-8659
Email: richard.dunbar@uphs.upenn.edu

Dr. Dunbar is interested in atherogenic dyslipidemia and its treatment, and has particular expertise in the mechanism of action and adverse effects of nicotinic acid (niacin). He has developed sophisticated objective techniques to quantify the physical stigmata of flushing from niacin. He combines these techniques with laboratory pharmacodynamic studies to elucidate the integrated physiology of the response to niacin.

Dariush Elahi

Dariush Elahi, PhD

Professor

Contact information

Perelman School of Medicine - Cardiovascular Division
Penn Tower, 6th Floor
3400 Spruce Street
Philadelphia, PA 19104
Office: (215) 662-2470
Fax: (215) 614-3244
Email: dariush.elahi@uphs.upenn.edu

Dr. Elahi’s research interests are in glucose metabolism, evaluation of glucose homeostasis with primary aim of elucidation of mechanisms for control of insulin release and action in the intolerant states of diabetes, obesity and aging; and the role of incritins on the regulation of glucose homeostasis.  Known across the country for his research, Dr. Elahi has received academic appointments at several prestigious institutions and lent his knowledge at the National Institutes of Health (NIH) and National Institutes on Aging for over 30 years.  He is an expert in the fields of gerontology, clinical physiology, endocrinology and glucose metabolism. 

Carsten C. Skarke

Carsten C. Skarke, MD

Assistant Professor

Contact information

Institute for Translational Medicine and Therapeutics (ITMAT)
8036 Maloney Building
3600 Spruce Street
Philadelphia, PA 19104
Office: (215) 746-8330
Fax: (215) 573-8996
Email: cskarke@mail.med.upenn.edu

Dr. Skarke has a long-standing interest in deep phenotyping studies in small numbers of humans. He extensively elucidated the pharmacokinetic and -dynamic relationship between parent morphine and its active metabolite, morphine-6-glucuronide (M6G), using experimental models of human pain. He was the first to provide evidence that a single nucleotide polymorphism in the human m-opioid receptor gene decreases opioid potency, which triggered a substantial interest in the pharmacogenetics of pain. In addition, he confirmed and extended the proof of concept that central opioid effects in humans are differentially modulated by drug transporters at the blood-brain barrier.

A prestigious Research Award from the German Alexander von Humboldt-Foundation allowed Dr. Skarke to extend his interests in bioactive lipids and their experimental perturbation in humans at the University of Pennsylvania, Philadelphia. Here, present work in his laboratory focuses on the examination of the interrelationship between alcohol and w-3 or w-6 poly-unsaturated fatty acids in humans, and its potential impact on the human gut microbiome. Dr. Skarke's group spearheaded the elucidation of the human pharmacology for the investigational new drug CG100649 as a dual cyclooxygenase-2 and carbonic anhydrase inhibitor. In addition, he collaborate to elucidate aspects of the preclinical and clinical pharmacology of boswellic acids.

Marina Cuchel

Marina Cuchel, MD, PhD

Assistant Professor

Contact information

Institute for Translational Medicine and Therapeutics
8039 Maloney Building
3600 Spruce Street
Philadelphia, PA 19104
Office: (215) 746-2834
Fax: (215) 615-6520
Email: mcuchel@mail.med.upenn.edu

Dr. Cuchel is interested in the study of mechanisms regulating the metabolism of lipid and lipoproteins, with particular attention to HDL and reverse cholesterol transport, using two parallel approaches: animal models and well-defined human monogenic disorders. She is also interested in early phase development of novel therapeutic strategies for the treatment of rare genetic disorders of lipid metabolism and for the enhancement of reverse cholesterol transport.

Barbara A. Bernhardt

Barbara A. Bernhardt, MS, CGC

Clinical Professor of Medicine

Contact information

Hospital of the University of Pennsylvania
3400 Spruce St
Penn Tower Room 1115
Philadelphia, PA 19104
Office: 215-662-4740
Fax: 215-614-0298
Email: barbara.bernhardt@uphs.upenn.edu

Barbara Bernhardt is a genetic counselor and social sciences researcher in the Department of Medicine at the University of Pennsylvania. She currently co-directs the Penn Center for the Integration of Genetic Healthcare Technologies which is one of the 6 NIH-funded Centers of Excellence in ELSI research in the United States. She was previously on the faculty of the Johns Hopkins School of Medicine and the Bloomberg School of Public Health, and a core member of the Hopkins Genetics and Public Policy Unit. For several decades, Ms. Bernhardt has conducted both qualitative and quantitative research exploring ethical and social issues relating to the diffusion of new genetic technologies, and the influence of the media, patients, providers, third party payers and clinical practice guidelines on the offering and utilization of genetic tests and services. Her current research projects include an investigation of the impact of the uncertainties of prenatal microarray testing on patients and providers; an evaluation of the offering of whole exome sequencing to children; and an assessment of the clinical utility of genomic testing for risk of common complex disorders.

In her clinical work, Ms. Bernhardt has 35 years of experience counseling patients in the context of complex decision-making in prenatal, pediatric and adult genetic clinics. She is currently the senior genetic counselor in the Adult Medical Genetics Clinic at the Hospital of the University of Pennsylvania. She has been a member of many local and national committees devoted to delivering genetic services.

William R. Lagor

William R. Lagor, PhD

Research Associate

Contact information

Perelman School of Medicine
University of Pennsylvania
Smilow Center for Translational Research
3400 Civic Center Boulevard, Building 421
11th floor, Room 133
Philadelphia, PA 19104-5158
Office: 215-573-5746
Fax: 215-746-7414
Email: wlagor@mail.med.upenn.edu

William "Bill" Lagor is interested in the regulation of lipid and lipoprotein metabolism, and the relationships between lipids and cardiometabolic disease. His research seeks to understand how common genetic variation determines an individual's susceptibility to complex diseases including obesity, insulin resistance, hepatic steatosis and atherosclerosis. Bill is a biochemist and molecular physiologist, and use a combination of viral gene delivery and classical gene targeting strategies to investigate gene function in model organisms. These physiological studies are complemented by cell based and in vitro approaches to investigate the molecular mechanisms involved. Key areas of interest include 1) The effects of Apolipoprotein F on HDL function and atherosclerosis, 2) Factors regulating lipid droplet formation and stability in the adipocyte and hepatocyte, 3) Elucidating the function of novel genes associated with obesity and lipoprotein levels in humans.

Philippe Szapary

Philippe Szapary, MD, MSCE

Adjunct

Contact information

Preventive Cardiology, Penn Heart and Vascular Center
Perelman Center for Advanced Medicine
East Pavilion, 2nd floor
3400 Civic Center Boulevard
Philadelphia, PA 19104
Office: 215-615-8659
Fax: 215-746-7414
Email: PSzapary@its.jnj.com

Philippe Szapary, MD, MSCE is an Adjunct Associate Professor of Medicine and a member of the Institute for Translational Medicine and Therapeutics both at the University of Pennsylvania. He is a graduate of Brown University and the University of Chicago Pritzker School of Medicine. He conducted his internship and residency in Internal Medicine at the University of California, San Francisco. Dr. Szapary was an Assistant Professor of Medicine in the Division of General Internal Medicine from 1998 - 2005, and an active member of the Cardiovascular Risk Intervention Program at Penn. While at Penn, his clinical and research interests were in Preventive Cardiology, especially in the use of diets, dietary supplements, and novel pharmacologic therapies to treat and prevent heart disease. Dr. Szapary was the PI of multiple NIH-sponsored clinical research projects, including a K23 and two Exploratory/Developmental Research Grant Awards (R21), and several industry-sponsored clinical trials. From June 2005-2007, Dr. Szapary took a position as Associate Director and later Director in the Cardiovascular & Metabolism Clinical Research group at Wyeth Research in Collegeville PA. At Wyeth, he was responsible for early drug development (Phases I-II) of novel oral compounds targeting nuclear hormone receptors for the treatment of type 2 diabetes and dyslipidemia. In 2007, he joined Centocor Research & Development, a unit of Johnson and Johnson, as a Director and later Senior Director in the clinical immunology research and development group where he works on late stage clinical development (Phases II-IV) of biological agents targeting IL-12 and/or IL-23 in immune mediated diseases.

Danish Saleheen, MD, PhD

Research Associate

Dennis Sprecher, MD

Adjunct

Molly Carr, MD 

Adjunct

 

 
 


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