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Novel therapies for severe dyslipidemia originating from human genetics

Gaudet, Daniel

Current Opinion in Lipidology: April 2016 - Volume 27 - Issue 2 - p 112–124
doi: 10.1097/MOL.0000000000000281
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Purpose of review Novel therapies for severe dyslipidemia target a wide range of unmet medical needs: severe familial hypercholesterolemia, severe hypertriglyceridemia and chylomicronemia, elevated lipoprotein (a), lipodystrophies, high-density lipoprotein particle diseases, lysosomal acid lipase deficiency and storage diseases, nonalcoholic fatty liver disease and others. The purpose of this review is to describe the contribution of human genetics to the development of therapeutic approaches targeting severe dyslipidemia.

Recent findings Recent advances in human genetics and the identification of rare genetic variants having strong effects on disease risk not only accelerated the development of therapies for severe dyslipidemia, they also revealed new pathways, genes and mechanisms of health, disease or drug response, and facilitated molecular diagnosis, which may prove essential as the authorized use of some of these novel drugs is limited to specific conditions. In addition, the dissection of the gene and cell machinery gave rise to new technologies, gene-based therapies and biodrugs covering a broad range of novel agents currently available or in clinical development to treat severe lipid disorders.

Summary Several novel therapies are recently available or under development to treat severe dyslipidemia and associated risk stem directly from genetic research. Altogether, these therapies target a broad variety of severe dyslipidemia pathways or mechanisms and illustrate that clinical lipidology has now entered the era of precision medicine.

Department of Medicine, Lipidology Unit, Community Genomic Medicine Center, Université de Montréal and ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, Quebec, Canada

Correspondence to Daniel Gaudet, MD, PhD, Department of Medicine, ECOGENE-21 Clinical and Translational Research Center, Université de Montréal, 225 St-Vallier, Chicoutimi, QC, G7H 7P2, Canada. Tel: +1 418 541 1077; fax: +1 418 541 1139; e-mail:

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