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Medical Genetics

Contact: Zosia Miedzybrodzka, Tel: +44 (0)1224 552120, Email: zosia@abdn.ac.uk

Researchers across the University of Aberdeen research themes and in both the Institute of Medical Sciences and the Institute of Applied Health Sciences are studying fundamental and applied aspects of the genetic contribution to inherited and acquired disease. Benefits of such medical genetics research are widespread, from improving information for families of those affected, to the identification of new targets for new therapies, and the ability to create models of disease that can then be used in therapeutic research.

The range of subject matter and techniques used is broad, from the most fundamental biology studies of the normal cell gene machinery, to applied work studying patients and families with disease, and the work of social scientists exploring the family consequences of genetic technology and disease. Aberdeen has one of the longest established clinical genetics services in the UK. Staff have made significant contributions to the development of genetics in medicine, including with past Presidents of the Clinical Genetics Society, British Society for Human Genetics and the Chief Medical Officer advisor on genetics. Researchers enjoy use of state-of the art equipment enhanced by a wide range of core facilities, but perhaps our greatest assets are our culture of collaboration, close links with diagnostic laboratory and patient care services, and especially our relatively stable population willing to partibcipate in research.

Examples of our world leading work include:

• Basic biology of DNA replication studied in yeast (Donaldson / Nieduszynski) will provide a window into molecular mechanisms of disease
• Machinery and control of gene expression (Mueller / MacKenzie).
• Gene function in development and disease (Pax 6 / Collinson)
• Applied research on genetic basis of disease from childhood to end of life, including autism and clubfoot (Miedzybrodzka), fetal anticonvulsant syndromes (Dean), psychiatric disorders such as schizophrenia and bipolar disorder (StClair), bone disease (Hocking / Reid), translational research on acquired genetic disease such as cancer (Schofield), and management and family impact of Huntington's disease (Simpson).

The NHS diagnostic DNA laboratory is one of the four founder members of the Scottish Molecular Genetics consortium, a model which has set the framework for recent developments of English genetics services. In addition to delivery of local and national diagnostic services including BRCA1, APC, HMSN and long QT gene analysis, the laboratory is integrated with the medical genetics research group.

Aberdeen is also an integral part of the 21st Century Genetics and Healthcare initiative, and the Scottish Family Health Study, whose goals are to address the genetic basis of common complex diseases, the focus within Aberdeen being on psychiatric disease, musculo-skeletal disease and pain research.