Medical genetics
Structure of human galactocerebrosidase (GALC) gene
The Department of Medical Genetics adopts a broad approach to ‘Medical Genetics’, encouraging interests in genomics and the functional biology of genetic disease, as well as applying genetics to diagnostic and therapeutic approaches to disease.
Ongoing research addresses a broad range of monogenic and multifactorial genetic disorders and many research programmes and clinical activities are run jointly with other departments at Addenbrooke’s hospital and elsewhere. The Department of Medical Genetics is committed to working collaboratively with other institutions, including NHS East Anglian Medical Genetics Service and the NHS Molecular and Cytogenetics Laboratories. Medically qualified members of the University Department also have clinical duties in the NHS Clinical Genetics Department.
Major areas of interest for the department include:
- Cancer genetics
- Genetics of developmental disorders
- Genetics of inflammatory disorders and juvenile diabetes
- Genetic components of neurological disease, including cellular mechanisms of neurodegeneration and developmental biology of neural cell development and repair
- Genes contributing to X-linked disease, particularly intellectual disability
- Renal genetics
- Autoimmune liver disease
- Disorders of genomic imprinting
