The primary aim of the recently formed Section of Ophthalmology and Neuroscience is to determine the causes of human inherited neurological disorders, and in so doing to gain insights into the processes of neurogenesis, neuronal homeostasis and function. The three sub-groups of the Vision Research Group study defects of the eye, while other members of the section have interests in Parkinson’s disease, Alzheimer’s, microcephaly, mental retardation and a range of neurological and other deficits arising from defects of the cilia – the so called ciliopathies.
Additional lines of research include investigating links between neurological defects and predisposition to cancer and between tooth and eye development. The pathologies studied, together with the underlying pathways involved, are examined using the techniques of genetics, cell biology and proteomics analysis. A major strength is our access to patients and patient samples through links with and access to local clinicians, including geneticists and practitioners in ophthalmology, neurology, pathology, oral healthcare and other specialised areas, some of whom train for post-graduate research degrees in the laboratory. We also benefit from many national and international collaborations, and the Section now manages unique cohorts of patients’ DNA and cells for a number of diseases. Ultimately it is hoped that this research approach will contribute to the search for cures for both rare and common inherited human diseases.