Medical Genetics Program

The research program in genetics focuses on genotype-phenotype associations in families and patient populations related to a wide variety of disorders

Medical genetics implicates most areas of medicine and human biology and the breadth of the field is reflected in the program. We are using classic and molecular genetics, functional genomics and bioinformatics in combination with clinical and paraclinical investigations to study the genotype-phenotype associations in families and patient populations related to a wide variety of disorders.

The research includes the understanding of general principles of inheritance, disease gene identification, function of genes and gene regulatory mechanism, pathogenesis, genetic diagnosis, genetic counseling and therapy.

Diseases of interest include mental retardation and associated comorbidities, neurodegeneration, deafness, limb defects, cataract, epilepsy, congenital heart disease, asthma, enuresis and anosmia. But our studies also include human specific phenotypes like musicality, dyslexia and human eye colour.

The research is based on large and unique collections of sample material including DNA from large patient cohorts, Copenhagen Family Bank, Mendelian Cytogenetics Network database and European Huntington Disease Network. We also use a wide range of cell and animal models. The methodologies to study these disorders include linkage analysis, homozygosity mapping, exome sequencing, mapping of disease-associated chromosomal breakpoints, expression profiling, RNA interference and systems biology.