Medical Genetics Program
2200 København N.
My research interest is to identify disease genes and mechanisms for late onset disorders by studying germline chromosomal rearrangements in carriers collected as part of my research employment at Department of Cellular and Molecular Medicine from 2001 and as part of my clinical employment at the Department of Clinical Genetics, Rigshospitalet from 2009.
Mapping of germline chromosomal rearrangements in patients with congenital diseases is a classical strategy to identify disease genes and their regulatory elements. This strategy has only sporadically been used for studying genes and mechanisms involved in later onset disorders because knowledge about a germline chromosomal rearrangement and a later onset disorder are seldom present at the same time. We have therefore re-examined all Danish carriers of a constitutional chromosomal rearrangement by questionnaires and registries. The cohort is continuously supplemented with new carriers resulting in a patient-database of currently 6345 carriers. This cohort has been important for several research projects e.g. for describing a new X-linked syndrome, defining risk and guidelines for carriers of a prenatally detected de novo chromosomal rearrangement, identifying an intact chromosome 1 as critical for male fertility, showing the variable phenotype associated with a mutation in TAB2 and the variable penetrance of mutations in CNTNAP2.
My research projects include studies on hypertension, obesity, cancer and reproductive difficulties and they are carried out in collaboration with colleagues at the clinical departments as well as at the university taking advantage of my dual employment. In the hypertension and obesity projects, I collaborate with the Novo Nordisk Foundation Center for Basic Metabolic Research: we have found that a specific gene is associated with hypertension and identified several candidate loci for obesity by studying carriers of chromosomal rearrangements. In collaboration with several medical doctors within oncology and cancer genetics at Rigshospitalet I study cancer patients with germline chromosomal rearrangements to search for candidate genes and regulatory elements. Furthermore, I am mapping chromosomal rearrangements of carriers with infertility to define critical regions for male infertility and to estimate reproductive risks for subgroups.