Personal profile


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, and as a fellow of the Royal Society of Edinburgh, and the Academy of Medical Sciences in 2014.   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 over 20 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.

Research Interests

My research programme identifies genes for inherited neurological disorders and defines the functional role of the proteins they encode. I aim to place these genes into cellular pathways, provide novel insights into biological mechanisms and advance our understanding of disease processes. In the long term I wish to apply my research findings to common multifactorial conditions and therapeutics.
Neuro-inflammation. Nucleic acids are potent activators of innate immunity. Innate immune sensing of nucleic acids provides resistance against viral infection and is important in the aetiology of autoimmune diseases. Aicardi-Goutières syndrome (AGS) is an autoinflammatory disorder mimicking in utero viral infection of the brain and is inherited as an autosomal recessive trait. Phenotypically and immunologically it exhibits many similarities to Systemic Lupus Erythematosus (SLE). We have identified mutations for this disease in four genes that encode two nucleases.
We propose that in AGS and SLE, nucleic acid byproducts stimulate a chronic and inappropriate innate immune response. Given that AGS is a monogenic disorder with a defined molecular basis, we are therefore using it as a model for common autoimmune disease to explore the cellular pathogenesis and molecular pathways implicated in nucleic acid triggered inflammatory responses. This should provide new insights into the aetiology of systemic autoimmune disease and immune-mediated damage of host by its inappropriate response to viral infection.

Growth and human brain size. The greatest difference between mammals is size, with a 75 million-fold difference between smallest and largest. In addition, a defining feature of humans is the large evolutionary expansion of the cerebral cortex. In marked contrast to the exquisite detail in which developmental patterning has been defined in model organisms, much remains to be learnt about the developmental and evolutionary factors controlling organ and organism size. Over the last few years we have identified many new microcephalic primordial dwarfism genes that regulate cerebral cortex volume and organism size, encoding fundamental components of cellular machinery controlling cell proliferation. We hypothesise that such genes are components of common cellular pathway(s) and that these human disorders can provide novel insights into developmental regulation of organism size. I propose to pursue genetic, cellular and developmental studies to address this hypothesis and further define the pathogenesis of these conditions. This work should contribute to our understanding of vertebrate growth regulation and help us understand how the human brain evolved. It may also yield new insights into the function of key cellular processes in development.

Current Research Interests

Genetic disorders of growth, inflammation and the brain

1. Nucleases and Nucleic-acid mediated neuroinflammation

2. Organism growth and human brain size

My 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.

Administrative Roles

Co-director of ECAT  (WT funded Clinical PhD programme)

Education/Academic qualification

Doctor of Philosophy (PhD), Molecular Genetics of Microcephaly, University of Leeds

Award Date: 1 Jan 2000

Bachelor of Medicine and Bachelor of Surgery, Newcastle University

Award Date: 1 Jan 1993

Bachelor of Science, B Med Sci: Thyroid antigens in autoimmunity, Newcastle University

Award Date: 1 Jan 1990


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