MRC Human Genetics Unit, Edinburgh | United Kingdom
Through the study of genetic disorders, we aim to gain insights into biological processes and disease mechanisms. My lab's starting point is the identification of new human disease genes, but our major focus is on defining the functional role of the proteins they encode in patient cells and model organisms. Our research currently has two major themes: (1) cellular pathways involved in determining organ and organism size; and (2) the role intracellular nucleases in viral infection and autoimmunity.
Keywords: Human disease genetics / neurodevelopment / nucleic acid mediated inflammation / organism growth