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Prof Detlef Bockenhauer
Appointment
  • Clinical Professor of Paediatric Nephrology/ Honorary Consultant Physician in Paediatric
  • Div of Medicine
  • Faculty of Medical Sciences
Biography

1985-88   Medical studies  Universit├Ąt Hamburg

1988-91    Staatsexamen

Research Groups
Research Themes
Research Summary

Overall aims:

1) to define the molecular basis of disease in order to understand disease manifestations and prognosis and

2) to develop specific and effective treatments based on molecular understanding of the disease


As a clinician-scientist, I pursue both clinical and laboratory investigations to achieve these aims. My current research is typically prompted by novel clinical observations, the basis of which is then investigated in the laboratory.

I mainly use genetic investigations to identify the molecular basis and I have contributed to the description of so far two previously unrecognised disorders and their genetic basis. In addition, I have contributed to the identification of numerous new disease genes.

I have also detailed the clinical phenotype of several inherited diseases in order to better understand the clnical consequences of the molecular defect and to gather data on treatment and prognosis.
I am involved in the development of a zebrafish model for EAST syndrome to develop new treatments.






Teaching Summary





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