Kennedy Center, Rigshospitalet
Karen Grønskov, Ph.D., is a Senior Scientist and Lab manager in the Department of Clinical Genetics (Kennedy Center), Rigshospitalet, Denmark. Her main research interest is to understand the genetic and epigenetic causes of ophthalmological disease and imprinting disorders. Her ophthalmogenetic research has focused on retinal dystrophies, oculocutanoeous albinism, microphthalmia, optic atrophy and aniridia. The Kennedy Center is the national center for ophthalmogenetics in Denmark. Dr. Grønskov is responsible for the genetic diagnostic analysis of ophthalmogenetic disorders. In 2013 she was the head of a collaborative study which led to the identification of mutations in LRMDA as the genetic cause of OCA7 using homozygosity mapping and DNA sequencing with zebrafish as a model system. Dr. Grønskov is currently PI on a project funded by the NovoNordic Foundation using consanguineous family members with albinism for identification of new causes of albinism. She uses zebrafish to study new variants and genes. Genetic variants in deep intron regions are investigated using minigenes. This is a collaborative study with team members from Copenhagen University, University of Southern Denmark and Rigshospitalet. Dr. Grønskov has more than 90 peer-reviewed publications.