I am a first year PhD student at the Welcome Trust Centre for Mitochondrial Research. My supervisors are Professor Patrick Chinnery, Dr Rita Horvath and Dr Angela Pyle.

I initially started as a Research Technician in Prof. Patrick Chinnery’s group after moving from a world leading biotechnological company where I worked as a Research Associate for over eight years.

In my role as a Research Technician I worked alongside Dr Angela Pyle and provided technical and teaching support to the group. While in this role I became inspired by the cutting edge science in the field of mitochondrial disorders, which prompted my decision to pursue my interest in research. I am particularly fascinated by the interaction between the mitochondrial and nuclear genomes and how this contributes to human disease.

My research project aims to test whether whole-exome sequencing is a viable diagnostic tool that can be utilised to make rapid, cost effective, identifications of causative mutations in mitochondrial disease. I am hopeful that this will lead to the discovery of novel molecular pathways involved in disease, an area which is important in the approaching era of personalised medicine.

Research Project

Dissection of human neurological diseases using the whole-exome sequencing

Principal Investigators: Professor Patrick Chinnery and Dr Rita Horvath
Other staff members involved: Dr Angela Pyle

Project Details

Many neurological disorders are complex traits, manifesting as a range of diverse phenotypes. This clinical spectrum, coupled with inferred genetic heterogeneity, has made genetic diagnosis difficult.

In recent years, advances in next-generation sequencing technology, particularly whole-exome sequencing, have allowed researchers to gain a better understanding of genetic variability and how this relates to complex disease.

The aim of my project is to explore whole-exome sequencing as a potential tool to aid in the diagnosis of unexplained, neurological disease. I aim to test the suitability of exome sequencing under varying inheritance patterns, with the overall aim of identifying the cause of disease in families where no genetic diagnosis has been established. It is hoped that the identification of new genes will lead to more therapeutic targets which I will investigate via functional studies.

Email: [email protected]
Sponsor/funder: Wellcome Trust