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Marina Cuchel, MD, PhD

Marina Cuchel, MD, PhD

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Research Associate Professor of Medicine
Department: Medicine

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
MD (Medicine)
Universita' degli Studi di Milano, Milan, Italy, 1987.
Specialist (Geriatric Medicine)
Universita' degli Studi di Milano, Milan, Italy, 1991.
PhD (Pathophysiology of Aging)
Universita' degli Studi di Milano, Milan, Italy, 1998.
MS (Translational Research)
University of Pennsylvania School of Medicine, 2008.
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Description of Research Expertise

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.

Selected Publications

Khetarpal S, Varshini A, Larach D, Tabita-Martinez J, McParland J, McCoy M, Rodrigues A, Kiss D, Zanoni P, Mucksavage M, Millar J, Cuchel M, Lund-Kats S, Phillips M, Kathiresan S, Rader D. : Coronary artery disease-protective A43T variant in ApoC3 alters circulating ApoC-III levels in vivo. 83rd European Atherosclerosis Society Congress March 2015 Notes: Moderated Poster Presentation.

William Hancock-Cerutti, Silvia Valentini, Jason Liu, Jeffrey T. Billheimer, John S. Millar, Daniel J. Rader, Marina Cuchel: Cholesterol efflux capacity inversely correlates with HDL cholesterol fractional catabolic rates 83rd European Atherosclerosis Society Congress March 2015 Notes: Poster Presentation.

Cuchel M. McParland JT, Wang J, Hegele RA, Rader DJ.: Clinical and biochemical characteristics are varied in subjects with ABCA1 mutations 83rd European Atherosclerosis Society Congress March 2015 Notes: Moderated Poster Presentation.

Raper Anna, Kolansky Daniel M, Sachais Bruce S, Meagher Emma A, Baer Amanda L, Cuchel Marina: Long-term clinical results of microsomal triglyceride transfer protein inhibitor use in a patient with homozygous familial hypercholesterolemia. Journal of Clinical Lipidology 9(1): 107-12, Jan-Feb 2015.

Rickels Michael R, Goeser Eugen S, Fuller Carissa, Lord Christine, Bowler Anne M, Doliba Nicolai M, Hegele Robert A, Cuchel Marina: Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young Adults. Diabetes 64(1): 193-9, Jan 2015.

Stefanutti C,DJ Blom, MR Averna, EA Meagher, H dT Theron, AD Marais, RA Hegele, CR Sirtori, PK Shah, D Gaudet, GB Vigna, BS Sachais, S Di Giacomo, AME du Plessis , LT Bloedon, J Balser, DJ Rader and M Cuchel for the Phase 3 HoFH Lomitapide Study Investigators : The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia – a post-hoc analysis of a Phase 3, single-arm, open-label trial. Atherosclerosis 2015 Notes: In press.

Agarwala AP, Rodrigues A, Risman R, McCoy M, Trindade K, Qu L, Cuchel M, Billheimer J, and Rader DJ: HDL phospholipid content and ABCA1- mediated cholesterol efflux capacity are reduced in patients with very high HDL-C and early coronary disease. Arteriosclerosis, Thrombosis and Vascular Biology 2015 Notes: in press.

Stefanutti C, Blom D, Averna M, Meagher E, Theron HdT, Marais D, Hegele R, Sirtori C, Shah P, Gaudet D, Vigna G, du Plessis A, Bloedon L, Rader D, Cuchel M. : Homozygous familial hypercholesterolemia presents with a wide spectrum of LDL-C levels in a genetically confirmed cohort of patients. The Second World Congress of Clinical Lipidology, Vienna, Austria Dec 2014 Notes: Accepted as poster.

Javaheri A, Kolansky DM, Cuchel M : Reconstituted high-density lipoprotein therapies: a cause for optimism. Arterioscler Thromb Vasc Biol 34(9): 1800-1802, Sep 2014.

Cuchel Marina, Blom Dirk J, Averna Maurizio R: Clinical experience of lomitapide therapy in patients with homozygous familial hypercholesterolaemia. Atherosclerosis. Supplements 15(2): 33-45, Sep 2014.

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Last updated: 08/20/2015
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