Professor Robert Hill

Group Leader

Background

I received my PhD from the University of Tennessee in 1981 and spent one and a half years at the Roswell Park Memorial Institute in New York.  I have been with the MRC in Edinburgh since 1983 first as a postdoctoral fellow and then as a principle investigator.  My major area of study is developmental genetics using the mouse as our experimental model.  Our interests have been in transcription factors and their roles in mammalian development and have primarily focused on processes that occur during organogenesis.  We isolated some of the first developmental genes in the mouse and focused initially on the homeobox containing genes.  We showed a correlation between the mechanism by which these genes operate in segmenting regions of the mouse hindbrain and in Drosophila segmentation.   We went on to show the position dependence of cells expressing homeobox containing genes and that tissue could be reprogrammed by changing position in the embryo.  We were among the first to show that the homeobox containing class of genes, in particular Pax6, was involved in human disease.  Pax6 is the basis for a congenital form of blindness called aniridia.  Our work opened up a molecular understanding of eye development with our initial studies on the roles of Pax6.  In our studies on gut development we have defined a new organising centre (we called the splanchnic mesodermal plate[SMP]) that is responsible for the left/right asymmetrical development of the spleen pancreas and stomach.   Most recently we have defined the molecular basis for preaxial polydactyly (PPD) in human. This has led to the establishment of a new genetic mechanism for congenital diseases.  The mutations for cause PPD all lie within a regulatory element controlling expression of the signalling molecule, Sonic Hedgehog.  These point mutations, rather than inactivate expression, redirect expression to an ectopic site.  I have been awarded my Professorship at the University of Edinburgh Medical School.

Qualifications

BSc ,PhD

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