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- Celebration of the life and work of John Morgan Hughes and the discovery of mitochondrial DNA disease A very successful celebration of the life and work of John Morgan Hughes took place at the Royal College of Physicians on the 25th April. Details of the programme and the launch of the John Morgan Hughes fellowship can be found at the following link htpps://www.justgiving.com/John-Morgan-Hughes-Fellowship/
- A business case to develop a Neuromuscular Complex Care Centre has been approved by the UCLH Trust Executive Board
- MRC Centenary Year 2013 - info and events
Annual Channelopathy Patient Information Day
Saturday 22nd June 2013 at Queen Square, London
Annual Mitochondrial Patient Information Day
Saturday 6th July 2013 at Queen Square, London
MSG Scientific Annual Meeting 2013 - Oxford
16-18 September 2013
First year PhD student, MRC Centre for Neuromuscular Diseases
I undertook a BSc dual honours degree in Neuroscience and Psychology at Keele University before moving to London to pursue a strong personal interest in neuromuscular diseases and neurodegeneration. Upon successfully completion of an MSc in Clinical Neuroscience at UCL Institute of Neurology I took an amazing opportunity to travel the world and during this time was appointed as a research officer at the Brain and Mind Research Institute, University of Sydney. I returned to the UK to begin a one year Research Assistant post at UCL Institute of Neurology where I have since commenced my PhD studies.
I was particularly attracted to the MRC Centre for Neuromuscular Diseases due to the focus placed on translational research, highlighting the clinical relevance of scientific research. My own research interests are focused on elucidating the molecular and genetic pathways involved in neurodegenerative disease, hoping to identify putative therapeutic targets which can potentially be applied to human disease.
PhD Project: Investigating pathology and therapeutic strategies in a mouse model of spinal and bulbar muscular atrophy (SBMA)
Spinal and bulbar muscular atrophy (SBMA) or Kennedy’s disease is a late onset motor neuron disease (MND) caused by a polyglutamine (CAG) repeat expansion in exon 1 of the androgen receptor (AR) gene on the X-chromosome. Although the protein is widely dispersed, mutant AR results in selective motoneuron loss in the spinal cord and brain stem nuclei. The disease presents predominantly in adult males and is characterised by weakness, atrophy and fasciculations of facial, bulbar and proximal limb muscles, leading to significant disability.
In this project we are investigating a yeast artificial chromosome (YAC) transgenic mouse model of SBMA with 100 CAG repeats (AR100) in the N terminal of the human androgen receptor gene (Sopher et al, 2004). The mice develop a late onset neuromuscular phenotype with accompanying lower motoneuron degeneration which recapitulates both the phenotypic and pathological characteristics of human disease.
Using this model, I am undertaking a thorough characterisation of the pathological changes that occur in the spinal cord and muscles during disease progression. In addition, I am testing the possibility that upregulation of an endogenous cytoprotective mechanisms called the Heat Shock Response (HSR) may be beneficial in the treatment of this disease. Our group has previously established that this approach can be effective in modifying disease progression in the SOD1 mouse model of Amyotrophic Lateral Sclerosis (ALS), a more rapidly progressing and aggressive motoneuron disorder (Kieran et al, 2004; Kalmar et al, 2009).
Supervisors: Professor Linda Greensmith & Professor Mike Hanna