No photo of Karen Grønskov

Karen Grønskov

    1993 …2024

    Research activity per year

    Personal profile


    My expertise is finding genetic and epigenetic causes of eye disease and imprinting disorders. I mainly use next generation sequencing (NGS) which is a method for massive parallel DNA sequencing. Instead of reading the DNA sequence one base at a time, the sequence of many different DNA sequences can be read in the same experiment, in fact the whole genome of 3 billion bases can be revealed in one experiment. 

    Main research areas

    Within the ophthalmogenetic field I focus on retinal dystrophies, albinism, optic atrophy and microphthalmia. Using a strategy with homozygosity mapping (can be used in consanguineous or genetic isolated populations) and DNA sequencing, the gene associated with oculocutaneous albinism type 7 was found. This gene, C10orf11, was further investigated in collaboration with a group working with zebrafish. In imprinting disorders I work on finding causes of Beckwith Wiedemann and Silver Russell syndromes, which are rare growth disorders.

    Current research

    A current project with retinal dystrophies aims to identify the genetic cause of retinal dystrophies in 800 individuals. Targeted NGS of 124 genes will diagnose approximately half of the cases, followed by whole genome NGS in selected cases which will have the potential to identify genes not previously known to be associated with retinal dystrophies. 

    Potential conflicts of interest



    Dive into the research topics where Karen Grønskov is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
    • 1 Similar Profiles

    Collaborations and top research areas from the last five years

    Recent external collaboration on country/territory level. Dive into details by clicking on the dots or