Kennedy Center, Rigshospitalet
Copenhagen, Denmark
Karen Grønskov, Ph.D. is a Senior Scientist and Lab Manager in the Department of Clinical Genetics, Rigshospitalet, Denmark. Her research focuses mainly on understanding the genetic and epigenetic causes of ophthalmological disease and imprinting disorders. Her ophthalmogenetic research has focused on oculocutaneous albinism, retinal dystrophies, microphthalmia, optic atrophy and aniridia. Karen Grønskov, together with clinical geneticists and ophthalmologists, has contributed to the genetic diagnostic analysis of ophthalmogenetic disorders. In 2013 Karen Grønskov led a collaborative project, using homozygosity mapping and DNA sequencing on zebrafish, which led to the identification of bi-allelic variants in LRMDA as the genetic cause of OCA7. Karen Grønskov is Principal Investigator on a project funded by the NovoNordic Foundation using consanguineous families with albinism for identification of new causes of albinism. She uses Zebrafish as a model organism for studying specific genes and variants. 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. Karen Grønskov has more than 100 peer-reviewed publications.
Karen Grønskov was a member of the Scientific Committees of the 2nd, 4th and 5th EDA as well as of ISCA 2022.