Email: portico-services@ucl.ac.uk
Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
- Clinical Professor of Paediatric Nephrology/ Honorary Consultant Physician in Paediatric
- Renal Medicine
- Div of Medicine
- Faculty of Medical Sciences
1985-88 Medical studies Universität Hamburg
1988-91 Staatsexamen




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.