Human Genetics

Fields of research

Our main reasearch goal aims to elucidate neurodegenerative mechanisms in the model system of the highly specialized mammalian retina. In previous years, major efforts were directed towards the identification of the genetic causes underlying the hereditary retinal dystrophies. Here, we were able to contribute specifically to the area of the macular dystrophies by cloning disease genes for conditions such as Sorsby fundus dystrophy , X-linked juvenile retinoschisis or Best vitelliforme macular dystrophy. Our ongoing work focuses on investigations into the respective pathomechanisms of these diseases. Apart from a broad methodological platform in molecular genetics and biochemistry, our approaches also include cell biological techniques and the generation and analysis of mouse models of retinal degeneration.

Research projects

  • Functional and structural characteristics of Bestrophin-1 and its role in the pathogenesis of Morbus Best.
  • Functional analysis of retinoschisin – A contribution to elucidate the molecular pathogenesis of X-linked juvenile retinoschisis.
  • Functional analysis of AMD-associated variants in the LOC387715/HTRA1 interval on chromosome 10q26


  • Prof. Dr. Frank Holz, Universitäts-Augenklinik Bonn
  • Prof. Dr. Rando Allikmets, Eye Research Institute, Columbia University
  • Dr. Frans Cremers, Department of Human Genetics, University Hospital Nijmegen
  • Prof. Dr. William Hauswirth, Center for Gene Therapy, University of Florida
  • Prof. Dr. Robert Molday, Macula Research Center, University of British Columbia
  • Prof. Dr. Kang Zhang, Eccles Institute of Human Genetics, University of Utah

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