Expertise

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. 

Primære forskningsområder

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.

Aktuel forskning

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. 

Mulige interessekonflikter

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