Inherited Disorders

Inherited diseases research

Advances in genomics, molecular and cellular biology and systems biology are revolutionising research into inherited diseases. Our internationally recognised research into inherited diseases covers a range of clinical specialties and scientific disciplines. Thus research may range from identifying novel human disease genes to understanding the function of a human disease gene product to using cellular and model organisms to develop new treatments for inherited diseases.

Most human diseases have a genetic component and our research covers both less common Mendelian inherited disorders and complex multifactorial diseases. There is often little relationship between the population frequency of an inherited disorder and the medical and scientific insights that can be gained by elucidating the molecular basis of a genetic disorder. For example identification of the genes for rare inherited cancers (e.g. the VHL gene and kidney cancer, ATM and leukaemia) have provided important breakthroughs in our knowledge of more common sporadic cancers. This concept was an important factor in the establishment of a Centre for Rare Diseases and Personalised Medicine but research into inherited diseases is broadly represented across the College.

Translational medical research

Translational medical research is an important facet of research into rare diseases. Thus many of the human disease genes identified by Birmingham researchers have been rapidly translated into NHS molecular genetics services to facilitate the diagnosis and management of inherited diseases in the UK and internationally and clinical research to improve the management of, and test pioneering new treatments for, a variety of inherited disorders is being undertaken in hospitals associated with University.