Regius Chair of Anatomy
- Email Address
- Telephone Number
- +44 (0)1224 274328
- Office Address
Anatomy Rm 324 Suttie Centre Foresterhill University of Aberdeen Aberdeen AB24 3HF
- School of Medicine, Medical Sciences and Nutrition
BSc Zoology, University of Durham, 1987
PhD Neuroscience, University of Edinburgh, 1990
Lecturer in Anatomy, University of Leeds, 1995
Senior Lecturer in Anatomy, University of Edinburgh, 2006
Professor of Anatomy, University of Aberdeen, 2013
Regius Chair of Anatomy, 2018
Memberships and Affiliations
- Internal Memberships
All aspects relating to Home Office legislation of anatomical teaching and research
College Teaching and Learning Committee
Division of Medical and Dental Education Executive Committee
Year 1-3 Medical Executive Committees
Medicine Curriculum Steering Group
- External Memberships
Elected Councillor, Anatomical Society: 2010-2016
Meetings Officer, Anatomical Society: 2011- 2016
IFAA Programme Secretary: 2018 - 2019
President, Anatomical Society 2019-2022
Spinal Muscular Atrophy
Systemic involvement in neurodegeneration, especially of the cardiovascular system
Effects of Hypoxia and ischaemia on the nervous system
Spinal muscular Atrophy (SMA) is a childhood form of Motor Neurone Disease. It is caused by a defect in a gene which 1:35 of us carry. When two carriers come together there is a 1:4 chance of producing an affected child. SMA is the second most common genetic cause of infant death, affecting between 1:6-10,000 live births Worldwide. The most severely affected children will never sit unaided and will die before their second birthday. The disease is characterised by a loss of motor neurones and resultant muscle weakness and inability to carry out co-ordinated motor tasks including breathing. The genetic defect is well-characterised and attempts to replace or reduce the severe depletion of the key Survival of Motor Neurone (SMN) protein are ongoing. However, even when protein levels in motor neurones are increased and improvements in motor parameters are reported, survival is not increased.
There is an increasing appreciation that this is not a classical motor neurone disease, but rather a systemic disease in which motor neurones are either most vulnerable or that defects in them are most clinically relevant.
Our research has pioneered significant pre and early symptomatic defects in the cardiovascular system, where the heart, blood vessels and circulating cells are all defective in SMA. We are now particularly interested to determine how this impacts on SMA disease development and progression. This is particularly relevant in the new post- therapeutic landscape, as these were designed to target neuronal defects.
We are currently exploring the extent to which the non-neuronal pathologies described in animal models are also seen in human post-mortem material and are using cellular models to determine the vulnerabilities of SMA cells to hypoxic environments. These will help us to understand and develop novel combinatorial therapies to treat the entirety of SMA pathology in patients.
Most recently, we are exploring similar non-motor pathologies in ALS/ MNDs.
Professor Tom Gillingwater: University of Edinburgh
Dr Tom Wishart: Roslin Institute Edinburgh
Dr Lyndsay Murray: University of Edinburgh
Dr's Francesco Muntoni and Haiyan Zhou: UCL, London
Prof Rashmi Kothary: University of Ottawa, Canada
Prof Charlotte Sumner: John Hopkins University, USA
Funding and Grants
All aspects of Anatomy teaching to Medical and Science students