Biography

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

Research Overview

Spinal Muscular Atrophy

Systemic involvement in neurodegeneration, espciall the cardiovascular system

Effects of Hypoxia and ischanemia on the nervous system

Current Research

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 cardiovascular system, where the heart, blood vessels and circulating cells are all defective in SMA. We are now particulary interested to determine how this impacts on SMA disease development and progression. This is particularly relevant in the new post-Nusinersen/ Spinraza treatment landscape, as this soleley targets neuronal defects.

We are currenty 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 entirity of SMA pathology in patients. 

Collaborations

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

SMA Europe 

Anatomical Society 

Tenovus Scotland

Teaching Responsibilities

All aspects of Anatomy teaching to Medical and Science students