Dr Pascale BENLIAN
Biochimie - Biologie Moléculaire
Hôpital Saint Antoine
184 rue du Faubourg Saint Antoine
75012 - Paris. France
Tel : 33 1 49 28 22 07
Fax: 33 1 49 28 22 06
pascale.benlian@sat.ap-hop-paris.fr

Description of the organisation

Université Pierre et Marie Curie (UPMC) trains 30 000 students each year with 4000 researchers and a yearly budget exceeding 250 Million Euros. The Saint Antoine School of Medicine, which is part of UPMC hosts a University Hospital: hôpital Saint Antoine, as part of Assistance Publique Hôpitaux de Paris (39 hospitals, 25 000 beds, and more than 90 000 employees).  Saint Antoine hospital hosts our laboratory, a major center for biochemistry and molecular biology in France. More particularly, it is specialized in the use of molecular biology to identify, monitor and treat high risk patients with inherited diseases such as those predisposing to premature heart disease, cancer, or acquired diseases such as AIDS. Our laboratory hosts national referral centers for the genetic diagnosis of diabetes, dyslipidemia or cancer involving networks of clinicians at the country level.

Short CV – Dr  Pascale BENLIAN

MD-PhD, specialized as a cardiologist and as a molecular geneticist. Assistant Professor; Full time tenure at the Dept of Biochemistry and Molecular Biology, Saint Antoine Medical School, Paris. Consultation mainly focused on familial and complex lipid disorders. Clinical chemistry for the investigation of lipid disorders. Molecular genetics of lipid disorders. Coordinator of a French Network for the molecular diagnosis of familial lipid disorders. Improvement of methods to better detect, manage and treat inherited lipid disorders. Publications on the molecular genetics of LPL or LCAT deficiency; FH, FDB; modulator alleles of non-cardiovascular diseases (ARMD, PBC); basic studies on the structure of candidate gene loci. Author of didactic books on the genetics of lipid disorders (latest published by Kluwer Academic publishers, Boston, 2001). Editor of the “Med-Ped Newsletter” (2001), suppl. to “Atherosclerosis” on inherited lipid disorders. Member of the executive committee of the EAS, the ELC. Scientific Award winner from the French Academy of Medicine (2001). Member of the Congress Program Committee of the European Society of Cardiology (2002).

Relevant publications

[UPMC1] BENLIAN P., BONAITI C., DOUSTE-BLAZY P., JUNIEN C. Candidate gene approach to type IIa hypercholesterolemia. The Lancet, (1989), vol. I, n° 8648, pp 1201-1202.

 [UPMC2] BENLIAN P., BOILEAU C., LOUX N., PASTIER D., MASLIAH J., COULON M., NIGOU M., RAGAB A., GUIMARD J., RUIDAVETS J.B., BONAÏTI-PELLIÉ C., FRUCHART JC., DOUSTE BLAZY P., BÉRÉZIAT G., JUNIEN C. Extended haplotypes and linkage disequilibrium between 11 markers at the ApoAI-CIII-AIV gene cluster on chromosome 11. American Journal of Human Genetics, (1991), vol 48, n°5, pp 903-910.

[UPMC3] BENLIAN P., Foubert L., GAGNÉ E., BERNARD L., de Gennes JL., LANGLOIS S., ROBINSON W., HAYDEN MR. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. American Journal of Human Genetics (1996), n° 59, pp 431-436.

[UPMC4] BENLIAN P., de Gennes JL., Foubert L., ZHANG H., GAGNÉ E., HAYDEN MR. Premature atherosclerosis in familial chylomicronemia caused by mutations in the lipoprotein  lipase gene. The New England Journal of Medicine  (1996) , n°335, pp848-854.

 [UPMC5] BENLIAN P.  Genetics of Dyslipidemia. Collection Basic Science for the Cardiologist. Editions KLUWER ACADEMIC PUBLISHERS , Boston MA,  (2001), 320 pages.

[UPMC6] Amsellem S., Briffaut D., Carrié A., Rabès J-P., Girardet J-P., Fredenrich A., Moulin P., Krempf M., Reznik Y., Vialettes B., De Gennes J- L, Brukert E., Benlian P. Intronic mutations outside of Alu-repeat rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. Human Genetics  (2002), n°111 : 501-510.