Prof Catherine Boileau

University of Paris Medical School and Inserm U1148

Chair of the Genetics Department, Bichat University Hospital

Paris, FRANCE

Prof Catherine Boileau is the current Chair of the Genetics Department at Bichat university hospital and teaches Genetics at the Medical School of Paris Cité University. She has performed research for over 35 years at Inserm. She was President of the first Scientific Advisory Board of the French Foundation of Rare Diseases and went on to be the Research Director of the Northern University Hospitals (4 hospitals with over 2000 beds, 130 senior medical staff and over 400 residents, and 4 Inserm research institutes). She also served on both the Medical Board and the Governing Board of the Paris University Hospitals (Assistance Publique-Hôpitaux de Paris).

Prof Boileau is author of over 300 international publications, and her research is aimed at understanding mechanisms of various inherited cardiovascular diseases. It relies on close interaction with reference clinical centers nationwide and combines genetics, genomics, cell and animal biology. In FH, she identified PCSK9 as a major actor of cholesterol metabolism. Indeed, she identified the first human mutations in its gene in FH patients. She thus made the original scientific contribution that lead to the development of current anti-PCSK9 therapies. She has also shown that beyond FH, PCSK9 mutations were associated with combined dyslipidemia. Beyond PCSK9, she showed that other genes were involved in FH, some still unknown.