Staff Profile

Introduction

As a member of the Translational and Clinical Research Institute at the Centre for Life I focus on identifying novel intronic variants driving neuromuscular disease. I work on the MYO-SEQ and Pompe disease projects along with identifying neuromuscular disease variants in patients diagnosed with chronic fatigue which could be driving associated symptoms. 

Background

Presentation of Myotonia Congenita in my family has sparked my interest in neuromuscular disease from a young age and drove my decision to study Genetics at University. My Human and Molecular Genetics MSc at Sheffield provided much hands-on experience in diagnostics assisting in this technical lab-based role.

Qualifications

BSc (Hons) – Genetics – University of Leeds

MSc – Human and Molecular Genetics – University of Sheffield

My research focuses on identifying novel candidate variants mainly localised to intronic regions of the genome that may be understudied drivers of neuromuscular disease such as Limb Girdle Muscular Dystrophy. We use patient samples from around the world (blood, saliva, muscle biopsies) to determine the pathogenicity of identified structural variants from sequencing data.