Medical genetics

Medical genetics

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  • Structure of human galactocerebrosidase (GALC) gene
    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

Find out more

Medical genetics website

Related gift announcements

Cambridge owes its world-leading excellence in research and teaching to the generosity of its supporters. Our history is synonymous with a history of far-sighted benefaction, and the same is as true today as it has ever been.

A laboratory scientist
Gift announcement
Established as a charity in 1920, the Evelyn Trust makes grants to support medical research and health and wellbeing projects in Cambridgeshire. The Trust is particularly interested in research projects that have the potential to deliver transformational change, such as demonstration or pilot projects.

Related impact stories

Philanthropic giving is at the heart of the success of the Collegiate University, enabling us to make discoveries that change the world and to ensure that our students receive an unrivalled education.

The new Laboratory of Molecular Biology at Addenbrooke's hospital
Philanthropic impact story
At any one time, more than 1000 clinical trials are being conducted across the Cambridge Biomedical Campus, the largest gathering of clinical, pharmaceutical and biomedical research specialists in Europe. These trials are a crucial step in the design of new medicines and medical devices – translating ideas that started in a research laboratory into new treatments for patients.