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.