Chair in Anatomy
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
The Neuromuscular Junction
Neurodegenerative diseases of the neuromuscular system
Spinal Muscular Atrophy
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 pionered significant pre and early symptomatic defects in the blood vessels which supply skeletal muscle and spinal cord where motor neurones are located. We are now seeking to determine the relationship between SMN protein deficiency and vessel defects, utilising a variety of model species and tissues.
We hope that this will lead either to further understanding of the molecular mechanisms involved in tissue-specific defects in SMA or an ameliorative treatment strategy to be used in combination with therapies directed specifcally towards motor neurones.
Professor Tom Gillingwater, University of Edinburgh
Dr's Barry McColl and Laura McCuloch, Roslin Institute Edinburgh
Professor Kevin Talbot, University of Oxford
Professor Brunhilde Wirth, University of Cologne, Germany
Professor Peter Carmeliet, University of Leuven, Belgium
SMA Trust Research Project Grant
Anatomical Society PhD Studentship
All aspects of Anatomy teaching to Medical and Science students
- Further Info
Elected Councillor, Anatomical Society, 2010-
Meetings Officer, Anatomical Society, 2011-
Honorary lecturer, University of Edinburgh, 2013-
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