profile: prof. dr. r.r. frants
Prof. Dr. Rune R. Frants is professor of Polygenetic and Multifactorial Diseases at the department of Human Genetics (deputy chair) of the Leiden University Medical Center (LUMC). His current research interest is the dissection of common complex disorders, in particular cardiovascular disease and neurogenetics. The cardiovascular research focuses on the metabolic syndrome, employing a combination of human patient families and cohorts on the one hand and QTL mapping in mouse crossings with genetically sensitized inbred strains on the other hand. The neurogenetics work has two main lines; migraine and facioscapulohumeral muscular dystrophy (FSHD). The migraine program covers patients and transgenic (humanized) mouse models. The main finding is the identification of the first migraine gene and the subsequent conclusion that migraine can be seen as a channelopathy. The FSHD research has led to the well accepted hypothesis that the disease is caused by a chromatin structure based epigenetic mechanism.
In the Nutrigenomics Consortium program he is responsible for WP-D. The mission of this WP entails the identification and characterization of candidate genes for the early triggering stage of the metabolic syndrome. This WP combines human and mouse genetics and genomics and forms a bridge between the other WP’s of NGC. Accordingly, validation of candidate genes not only on the functional and molecular level but also on the population level is possible in the framework of the CMSB.
memberships/awards
Prof. Frants is involved in various committees and boards of dutch and international scientific organizations:
1980- NWO. Various committees, including “Chronic Disease and Nutrition”
1989- FSHD Working Group, European Neuromuscular Center
1989- International FSHD Consortium
1992- Faculty Commission Animal Experiments, Leiden University
1994-2003 Dutch Heart Foundation; Scientific Advisory Board
1995-2002 International Alzheimer Foundation; Board of Directors
1996- FSH Society Inc.; Scientific Advisory Board
1997- Leiden University Medical Center; Scientific Advisory Board
1999- Prinses Beatrix Foundation; Scientific Advisory Board
2002- Coordinator CMSB platform Model Systems
2003- Coordinator LUMC Center of Excellence “Neuroscience”
2003- Project leader IC-TREND
publications
58 Publications in peer-reviewed journals
2003-2006