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Marina Cuchel, MD, PhD

Marina Cuchel, MD, PhD

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Research Assistant 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
Education:
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

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.

Rickels MR, Goeser ES, Fuller C, Lord C, Bowler AM, Doliba NM, Hegele RA, Cuchel M. : Loss-of-Function Mutations in ABCA1 and Enhanced β-Cell Secretory Capacity in Young-Adults. Diabetes Aug 2014 Notes: [Epub ahead of print]

Anthanont P, Polisecki E, Asztalos BF, Diffenderfer MR, Barrett PHR, Millar JS, Billheimer J, Cuchel M, Rader DJ, Schaefer EJ : A Novel ApoA-I Truncation (ApoA-IMytilene) Associated with Decreased ApoA-I Production. Atherosclerosis. 235(2): 470-477, Aug 2014.

Cuchel Marina, Bruckert Eric, Ginsberg Henry N, Raal Frederick J, Santos Raul D, Hegele Robert A, Kuivenhoven Jan Albert, Nordestgaard Børge G, Descamps Olivier S, Steinhagen-Thiessen Elisabeth, Tybjærg-Hansen Anne, Watts Gerald F, Averna Maurizio, Boileau Catherine, Borén Jan, Catapano Alberico L, Defesche Joep C, Hovingh G Kees, Humphries Steve E, Kovanen Petri T, Masana Luis, Pajukanta Päivi, Parhofer Klaus G, Ray Kausik K, Stalenhoef Anton F H, Stroes Erik, Taskinen Marja-Riitta, Wiegman Albert, Wiklund Olov, Chapman M John: Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. European heart journal 35(32): 2146-57, Aug 2014.

Anthanont P, Millar JS, Billheimer J, Cuchel M, Rader DJ, Schaefer EJ: A Novel Apolipoprotein A-I Truncation (ApoA-IMytilene) Associated with Decreased ApoA-I Production and Cholesterol Efflux. Atherosclerosis. Jul 2014 Notes: Poster Presentation.

Cuchel M: Mutations in ABCA1 are associated with enhanced Beta-Cell Secretory capacity in Humans. 82nd European Atherosclerosis Society Congress Jun 2014 Notes: Oral Presentation.

Gudipaty L, Rosenfeld NK, Fuller C, Cuchel M, Rickels MR: Impaired β-Cell secretory capacity in non obese compared to obese early Type 2 Diabetes and healthy controls. ICE/ENDO 2014 Meeting Jun 2014 Notes: Oral Presentation.

Gudipaty L, Rosenfeld N, Kubrak C, Peleckis A, Malik S, Cuchel M, De Leon DD, Hadjiliadis D, Rubenstein RC, Rickels MR, Kelly A: Characterization of Insulin Secretion in Postpubertal Adolescents and Adults with Cystic Fibrosis--Preliminary Results. ICE/ENDO 2014 Meeting Jun 2014 Notes: Oral Presenation.

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Last updated: 09/11/2014
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