The Section of Genetics is active in the study of a range of different human genetic pathologies and mechanisms. Our general belief is that quite deep insights into human biology are still to be had through the study of naturally-occurring genetically-determined phenotypes. While this has been so for many years, it continues to be a rich seam in the so-called "post-genomic era".
Several members of the Section are clinical geneticists, and there is a close relationship with the Yorkshire Regional Clinical Genetics Service. The local clinical genetics practice has had a considerable influence on academic activity. Thus, for several years (both within the old Molecular Medicine Unit and more recently within LIMM) the study of rare recessive phenotypes has been a particular focus in Leeds. This is in large part due to the presence locally of a large and growing Pakistani community that practices customary consanguineous marriage. Genetic disorders that result from identity by descent for recessive mutations present an important clinical management problem, while also offering powerful routes to disease gene identification through autozygosity mapping.
Genetics, of course, is not just a clinical specialty, but a core set of biological principles and technologies that are exploited by many other academic groupings within Leeds. We have particularly close thematic alignment with the Section of Ophthalmology and Neuroscience, and collaborative links with colleagues in the Faculty of Biological Sciences. These allow the genetic aspects of our work to be complemented by a full range of functional studies, including experimental genetics, biochemical and structural biology.