Marina Cuchel, MD, PhD

faculty photo
Research Associate Professor of Medicine (Translational Medicine and Human Genetics)
Member, Institute for Translational Medicine and Therapeutics, University of Pennsylvania
Member Physician-Scientist, University of Pennsylvania Institutional Review Board
Associate Program Director, ITMAT Education, University of Pennsylvania
Director, ITMAT Ed, Clinical Trialist Training Program, University of Pennsylvania
Department: Medicine

Contact information
Institute for Translational Medicine and Therapeutics
9017 Maloney Building
3600 Spruce Street
Philadelphia, PA 19104
Office: (215) 662-7188
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

My expertise is in rare disorders that affect LDL and HDL cholesterol metabolism. My research interest is focused in understanding the cause of these conditions, finding novel ways to treat them, and ultimately improve their clinical management. 

Currently, I have two active areas of research in rare disorders affecting LDL and HDL metabolism:

Homozygous Familial Hypercholesterolemia or HoFH - HoFH is the rarest form of Familial Hypercholesterolemia (FH) and affects approximately 1 in every ~350,000 people. Untreated LDL cholesterol levels are usually >400 mg/dL, and if left untreated, are associated with premature cardiovascular disease as early as childhood. Patients with HoFH respond insufficiently to conventional lipid lowering drugs, such statins. Penn has a longstanding research program dedicated to the development of novel treatment options for HoFH, spanning from gene therapy to the development of lomitapide and, more recently, evinacumab.

LCAT deficiency – Lecithin:cholesterol acyl transferase (LCAT) is an enzyme involved in cholesterol metabolism. It esterifies the cholesterol carried by HDL and LDL. Familial LCAT deficiency (FLD) and fish-eye disease (FED) are two very rare disorders caused by LCAT deficiency. Both disorders are associated with very low HDL levels and corneal opacities. Additionally, patients with FLD develop renal disease early in life that often quickly progresses to renal failure requiring dialysis or transplant.
If you would like to learn more about these diseases or are interested in collaborating in my research, you can contact me at: mcuchel@pennmedicine.upenn.edu.

Ongoing Clinical Research Programs:
CASCADE FH Registry (NCT01960244): A longitudinal observational registry for patients diagnosed with FH.
HICC registry (NCT04815005): An international registry specifically dedicated to collecting data on HoFH.
LCAT-D registry (NCT06217588): An international registry specifically dedicated to collecting data on LCAT deficiency.

Selected Publications

Mulder JWCM, Tromp TR, Al-Khnifsawi M, Blom DJ, Chlebus K, Cuchel M, D'Erasmo L, Gallo A, Hovingh GK, Kim NT, Long J, Raal FJ, Schonck WAM, Soran H, Truong TH, Boersma E, Roeters van Lennep JE; Homozygous Familial Hypercholesterolemia International Clinical Collaborators.: Sex Differences in Diagnosis, Treatment, and Cardiovascular Outcomes in Homozygous Familial Hypercholesterolemia. JAMA Cardiol Page: doi: 10.1001/jamacardio.2023.5597, Feb 2024 Notes: Online ahead of print.

Santos RD, Cuchel M.: LDL-C-Lowering Therapies for Adults and Children With Homozygous Familial Hypercholesterolemia: Challenges and Successes. Circulation 149: 363-366, Jan 2024.

CureTalks: Understanding Lecithin Cholesterol Acyltransferase (LCAT) Deficiency Disorders with Dr. Marina Cuchel. https://www.youtube.com/watch?v=R_r-ZnQcOwM Jan 2024.

McGowan MP, Cuchel M.: Universal paediatric screening for familial hypercholesterolaemia. Lancet 403: 6-8, Dec 2023.

McGowan MP, Cuchel M, Lee PC.: USPSTF Recommendation on Screening for Lipid Disorders in Children and Adolescents. JAMA 330: 2023-2024, Nov 2023.

Lan NSR, Bajaj A, Watts GF, Cuchel M.: Recent advances in the management and implementation of care for familial hypercholesterolaemia. Pharmacol Res 194: 106857, Aug 2023 Notes: doi: 10.1016/j.phrs.2023.106857.

Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna M, Bruckert E, Freiberger T, Gaudet D, Harada-Shiba M, Hudgins LC, Kayikcioglu M, Masana L, Parhofer KG, Roeters van Lennep JE, Santos RD, Stroes ESG, Watts GF, Wiegman A, Stock JK, Tokgözoğlu LS, Catapano AL, Ray KK.: 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J 44: 2277-2291, Jul 2023.

Raal F, Cuchel M.: Lipid metabolism. Curr Opin Lipidol 34: 93-95, Jun 2023.

Alfaro, Pendyala J, Bajaj A, Sulewski M, Andersen T, Vitali C, Cuchel M : Familial LCAT (Lecithin:cholesterol acyltransferase) Deficiency: a case report 2023 National lipid Association Scientific Sessions, Atlanta, GA. Oral presentation. Jun 2023.

Mami S, Park J, Vedamurth D, Risman M, Bajaj A, Cuchel M : A genome-first approach to identify carriers of Familial Hypercholesterolemia-causing variants 2023 National Lipid Association Scientific Sessions, Atlanta GA. Oral presentation. Jun 2023.

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Last updated: 02/27/2024
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