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Disease Mechanisms

Programme Leader


Andrew Jackson

Contact Details

E-mail address:
Telephone: +44 (0)131 651 8560
Fax: +44 (0)131 651 8800
Address: MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh EH4 2XU
Research Programme: Genetic Disorders of Growth, Inflammation and the Brain



Professor Jackson is a Programme Leader at the MRC Human Genetics Unit, University of Edinburgh.   He is also an honorary consultant in Clinical Genetics, and was elected as a member of EMBO in 2013.   He trained in Medicine in Newcastle, graduating BMedSci in 1990 and MBBS in 1993.  His clinical and research postgraduate training was in Newcastle, Leeds and Sheffield, with his PhD undertaken in the laboratory of Prof Geoff Woods on the molecular basis of primary microcephaly. 

Over the past 15 years his research has focussed on the identification of genes for inherited neurological disorders and in defining the functional role of the proteins they encode. The Jackson lab has discovered 12 human disease genes acting in growth and inflammation, all involved in fundamental cellular processes.  From a starting point of human disease, his research goal is to provide new insights into basic biological processes.


Academic Qualifications 

  • Bachelor
    • 1993, Bachelor of Medicine and Bachelor of Surgery, 1st, Newcastle University
    • 1990, Bachelor of Science, 1st, Newcastle University
  • Doctorate
    • 2000, Doctor of Philosophy, PhD, University of Leeds

Professional Qualifications

  • 1996, Member of the College of Physicians, MRCP
  • 1993, MB ChB

Research in a Nutshell

My research programme identifies new genes for inherited disorders affecting the human brain. We also study how these genes function using cells and model organisms. Aicardi-Goutières syndrome is a genetic condition in which faults in genes encoding enzymes called nucleases, mimic viral infection of the brain. These nucleases may normally clean up naturally produced ‘waste’ DNA and RNA, with failure of this process leading to the body mounting an immune reaction against itself. This immune response mechanism is relevant to common autoimmune diseases such as lupus and so we are studying these enzymes to understand their normal roles in cells and to establish what happens when these enzymes fail.

Secondly, we are identifying genes that cause extreme growth failure of the brain and body. Individuals with primordial dwarfism are often described as the 'smallest people in the world'. These genes are components of the core cell machinery which controls cell duplication and mutations likely result in fewer cells being made, leading to a smaller person. Identifying these genes will help diagnosis and management of these rare conditions. It may also help us better understand how the body regulates growth, perhaps shedding light into why humans are bigger than mice and how our brains evolved to be so large.