Wellcome Trust Centre For Mitochondrial Research

Siobhan Shuttleworth

Biography

I completed my undergraduate studies in 2012, graduating with a 1st class BSc (Hons) in Biomedical Science from Newcastle University. Following this, I worked in a range of administrative positions within the NHS and private scientific industry. Returning to academia in 2015, I joined the Wellcome Trust Centre for Mitochondrial Research to commence my MRes/PhD studies under the supervision of Dr. Patrick Yu-Wai-Man.


Research Project

Investigating Disease Mechanisms in Inherited Optic Neuropathies

Principal Investigators: Dr. Patrick Yu-Wai-Man

Project details

Mitochondrial optic neuropathies affect 1 in 10,000 people in the UK and it is an important cause of inherited blindness in both the paediatric and adult population. The two most common nuclear genetic causes are autosomal dominant optic atrophy (OPA1 mutations) and Wolfram syndrome (WFS1 mutations). In both disorders, there is irreversible loss of retinal ganglion cells (RGCs) leading to optic nerve neurodegeneration and progressive loss of vision. Additionally, 20% of OPA1 mutation carriers develop a more severe form of the disease, known as DOA plus (DOA+), where the optic atrophy is complicated by more widespread neurological deficits, including ataxia, myopathy and peripheral neuropathy. Mitochondrial dysfunction is implicated in both neuropathies; however, the precise disease mechanisms remain unclear.

The focus of this research project is to further investigate disease mechanisms in patient myoblasts and to utilise induced pluripotent stem cells to establish neuronal disease models.

Contact: siobhan.shuttleworth@newcastle.ac.uk

Sponsor/funder: The Barbour Foundation