Prof. Dr. Marguerite Neerman-Arbez
- Swiss National Science Foundation (SNSF)
- AcademiaNet member since 04.09.2012
- AcademiaNet- Selection Criteria
Area of specialisation
Human Genetics, Blood Coagulation, Cardiovascular Disease Risk Regulation of Gene Expression
My group studies human genetic disorders of hemostasis, in particular fibrinogen deficiencies. These are rare and affect either the quantity or the quality of circulating fibrinogen, which is the precursor of the major protein of the blood clot, fibrin. My laboratory identified the gene and the first causative mutations for complete deficiency of fibrinogen, afibrinogenemia, in 1999.
While still pursuing studies of the molecular mechanisms by which fibrinogen gene mutations lead to disease, we are also investigating mechanisms influencing fibrinogen levels (which are highly variable amongst individuals). Animal models (zebrafish) are used in the course of these projects.
The discovery of novel mechanisms determining fibrinogen levels in the circulation is clinically relevant since a high fibrinogen level is an independent risk factor for cardiovascular disease.
Distinctions and Awards
Bayer Hemophilia Award, 2004
Swiss National Science Foundation Professorship (Career Development Award), 2002
Roche Diagnostics Prize for Advancement in Hemostasis Research, 2001
International Prize for Research on Coagulation Disorders (Angelo Bianchi Bonomi Foundation), 1999
European Society of Human Genetics Young Scientist Award, 1999
- Lectures, Membership in scientific bodies, Professorship, Refereeing