Wellcome Trust Centre For Mitochondrial Research

Róisín Boggan

Biography

I graduated from the University of Reading with a BSc (Hons) Biological Sciences. I then went on to achieve an MSc in Genomic Medicine at Barts and the London, QMUL.

As an undergraduate I completed a project researching the effect of a novel therapeutic on Duchenne Muscular Dystrophy. During the completion of my MSc, I produced a comprehensive literature review on ‘The Genetics of Sudden Cardiac Death’.

My PhD will focus on the identification of nuclear genetic modifiers of the most common mitochondrial mutation, m.3243A>G.

Research Project

Identifying nuclear genetic modifiers of the pathogenic mt DNA variation m.3243A>G

Principal Investigators: Dr Sarah Pickett

Project Details

My project is aimed at identifying variants in the nuclear genome that modify m.3243A>G-related disease. The m.3243A>G mutation is associated with a wide range of clinical phenotypes. Initially identified in patients with MELAS, m.3243A>G has also been associated with symptoms such as diabetes, deafness, and cerebellar ataxia.

This variance in clinical presentation is not fully explained by the proportion of mutated to wild-type mitochondria present in patients. This unexplained heterogeneity is a strong suggestion that there are factors that influence phenotype that are currently unidentified.

Whole genome genetic linkage and association analyses, as well as whole genome sequencing will identify modifying nuclear variants of the Newcastle m.3243A>G clinical cohort. Bioinformatic tools will be used to assess the biological importance of identified variants. The biological mode of action in patient fibroblasts and muscle samples will be characterised by using a number of biochemical techniques, depending on the specific variants being studied.

Contact: r.boggan2@ncl.ac.uk

Sponsor/funder: Wellcome