The Human Genetics Unit
The Human Genetics Unit is a collaboration between the University of Dundee and NHS Tayside. The Unit brings together disciplines from research, diagnostic and service based laboratories providing an environment that aims to augment the activities of its constituent groups.
Specialist clinics for the diagnosis of hereditary conditions, to advise affected families and to help coordinate their management are provided by two Consultant Clinical Geneticists and three Genetic Councellors based at Ninewells Hospital. Clinics are held in several locations across Tayside (Ninewells Hospital, Perth Royal Infirmary, Arbroath Infirmary and Whitehills Forfar). Clinics include general genetics clinics and specialist, familial cancer clinics, antenatal genetics clinics, neurogenetics clinics (adult and paediatric), dermatogenetic clinics and vascular genetics clinics. We can also advise clinical colleagues about diagnosis and management of hereditary conditions and interpretation of the results of genetic investigations.
The department delivers a range of specialised diagnostic cytogenetic services to Tayside and North Fife, together with the research and development necessary for new clinical services of direct patient benefit. Close liaison with Clinical and Molecular Genetics disciplines helps to provide an integrated Human Genetics Service
DNA Analysis Facility
The DNA Analysis Facility has been in operation for approximately 10 years and resides within the University Division of Pathology and Neuroscience. Initially set up to provide a DNA sequencing service for a single research group, the Facility is now part of the Human Genetics Unit where strong links have been made with its affiliated groups. The Facility now provides DNA analysis services for over 40 research groups within the Medical School and is viewed as a great success within the Academic Community. The Facility has been instrumental in attracting new groups to the Division and continues to expand the variety of services it offers to the Medical School.
Epithelial Genetics Group
The Epithelial Genetics Group focuses on human genetic disorders affecting the structure, function and differentiation of epithelial barrier tissues. Most of these conditions affect the epidermis and its appendages, such as hair, nail, sweat glands and sebaceous glands, however, a number affect other epithelial tissues such as those covering the cornea, mucous membranes and internal organs. Most of these disorders are caused by defects in genes encoding keratins - the intermediate filament cytoskeleton proteins of epithelial cells. Related disorders are caused by mutations in related genes encoding additional proteins associated with this important intracellular protein scaffold, whose primary function is to provide cells with mechanical resilience. Loss of or weakening of any components within this system lead to disorders associated with epithelial cell fragility and/or overgrowth (hyperkeratosis).
The DNA diagnostic laboratory at Ninewells Hospital is part of a four-centre Scottish Molecular Genetics Consortium which aims to provide a comprehensive diagnostic service for the Scottish population, as well as acting as specialist centre for rarer conditions for the rest of the UK. Each Consortium laboratory has an individual repertoire of tests and the range of conditions covered by the Dundee laboratory is listed inside as well as our policies regarding sample types and reporting. This Website is still being developed and the list of diagnostic tests offered by the laboratory is continuously being updated. We would therefore be more than happy to discuss the full range of services available as well as any development work that is either currently underway or planned for the near future.