Dr Jacquelyn Bond is investigating a genetic disorder called microcephaly, which causes babies to be born with a small brain and mental retardation. Dr Bond and colleagues from the unit have already pinned down several genes which, when defective, cause microcephaly. She is now studying one of these genes, ASPM, to find its function and to determine how defects in the gene cause microcephaly.
Dr Bond believes that the ASPM protein is involved in cell division in the brain. Knowing how it works is not only of medical interest but could also tell us about the evolution of the human brain, the organ that makes us unique in the animal kingdom. "Functional studies of this important gene will increase our understanding of the pathways involved in brain development and determine how aberrations in the pathway involving ASPM result in microcephaly," said Dr Bond.
Other groups in the section of ophthalmology and neuroscience work on inherited blindness (Professor Chris Inglehearn) the molecular mechanisms which cause Parkinson's diseases (Dr Phil Robinson and Dr Helen Ardley) and the possible involvement of microcephaly genes in cancer (Dr Sandra Bell). Recent successes for the group include awards to Dr Carmel Toomes of a Royal Society principle research fellowship to study retinal vascular disease, and to Dr Manir Ali of an MRC new investigator award to study inherited blindness in chickens.
The section is part of a prestigious new institute based at the St James's hospital, the Leeds institute of molecular medicine (LIMM), headed by Professor Terry Rabbitts FRS, newly appointed from the LMB in Cambridge. Head of the section Professor Chris Inglehearn, said: "The University have given us a first class research environment, so now it is up to us to rise to the challenge and fulfil our potential, building critical mass around existing areas of excellence."
Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
Published on PsychCentral.com. All rights reserved.