Mathilde VARRET PhD, Genetics and Pathophysiology of Dyslipidemia

Course and current status


2001 : Accreditation to supervise research (HDR) - Descartes University, Paris 5.

1994-98 : PhD in Human Genetics - Pierre & Marie Curie University, Paris 6.

1993-94 : Master degree in Cellular and Molecular Physiopathology - Pierre & Marie Curie University, Paris 6.


2014-present : Senior Research Investigator, INSERM UMRS1148 / Laboratory for Vascular Translational Science: LVTS / (Director: Dr Didier LETOURNEUR), Team 2 : «Cardiovascular Structural Diseases», Hôpital Bichat, Paris, France. Directors: Pr Catherine BOILEAU & Pr Guillaume JONDEAU. 

2017-Present : Member of the Scientific Council of the Registre Français des Hypercholesterolémies, REFERCHOL :

2015-Present : Member of the board of directors of the Nouvelle Société Francophone d’Athérosclérose:

2010-13 : Senior Research Investigator, INSERM UMRS698 / Hemostasis, Bioengineering and Cardiovascular Remodeling (Director: Pr Jean-Baptiste MICHEL), Team 6 : «Genetics of Familial Hypercholesterolemia and of Ascending Aortic Diseases», Hôpital Bichat, Paris, France. Director: Pr Catherine BOILEAU. 

2006-10 : Research Investigator, INSERM UMR781 / Genetics and Epigenetics of Metabolic, Neurosensory and Developmental Diseases, Hôpital Necker, Paris, France. Directors: Pr Claudine JUNIEN & Pr Arnold MUNNICH.

2003-05 : Junior Research Investigator, INSERM U383 / Genetics, Chromosomes and Cancer, Hôpital Necker, Paris, France. Director: Pr Claudine JUNIEN.

2001-02 : Postdoctoral fellow at INSERM U465 / Nutrition, Metabolism and Obesity: cellular and Molecular Aspects, Centre de Recherche des Cordeliers, Paris, France. Director: Pr Pascal FERRE.

1999-2000 : Postdoctoral fellow at INSERM U383 / Genetics, Chromosomes and Cancer, Hôpital Necker, Paris, France. Director: Pr Claudine JUNIEN.

1995-2012 : Co-animator of the French network for the study of familial hypercholesterolemia.

Scientific summary




In the LVTS Team2, Mathilde VARRET is the principal research investigator specialized in genetics and pathophysiology of dyslipidemia. Dyslipidemia is a major risk factor for the development of atherosclerosis. Autosomal Dominant Hypercholesterolemia (ADH) is the ‘textbook dyslipidemia’ for inherited atherosclerosis leading to Coronary Artery Diseases.

ADH is clinically and biologically homogeneous and results essentially from LDL receptor alterations. We pioneered paradigm rupture and demonstrated that ADH is genetically heterogeneous with the involvement of at least 4 genes. Our ground-breaking work revealed that PCSK9 is involved in cholesterol homeostasis, that the APOE gene participates significantly in the molecular spectrum of ADH defects and that ADH forms due to oligogenic combinations exist.

Always with the aim to identify new major or modifying ADH genes and characterize the underlying mechanism, we focus on deciphering the genotypic/phenotypic relationships. To achieve this goal, Omic approaches (genomic, transcriptomic, proteomic and lipidomic) are combined in order to characterized in each family the underlying mechanism leading to ADH. Subsequently, in depth cellular and molecular investigations will be performed to confirm new actors of cholesterol homeostasis.

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