Wellcome Trust Centre For Mitochondrial Research

Charlotte Alston

Biography

Charlotte-AlstonMitochondrial diseases are common genetic disorders caused by defective energy production. They affect numerous organs and due to the clinical and genetic heterogeneity, obtaining a genetic diagnosis is often difficult yet crucial for the counselling of patients and their families. There are no cures but establishing a genetic diagnosis enables patients and their families’ access to genetic and reproductive counselling.

I am a State Registered Clinical Scientist and have spent the last 7 years working in the Nationally-Commissioned mitochondrial diagnostic laboratory in Newcastle. Our multidisciplinary service uses histochemical and biochemical assessment of mitochondrial respiratory chain activities, together with molecular genetic analysis of nuclear-encoded and mitochondrial-encoded disease genes to provide a genetic diagnosis for mitochondrial disease patients;  whilst this strategy establishes a genetic diagnosis for many patients, approximately half our patients remain without a genetic diagnosis.

My PhD aim is to improve the genetic diagnosis pathway for paediatric patients with mitochondrial disease by implementing next-generation sequencing technologies within a diagnostic setting. My doctoral project uses new technologies to investigate all known mitochondrial disease genes using blood samples, creating a rapid, cost-effective means of obtaining a genetic diagnosis for most children whilst avoiding an invasive and expensive muscle biopsy. Upon completion of my PhD, the genetic and molecular techniques I am establishing will be transferred to the diagnostic setting to improve the clinical service that our laboratory provides to clinicians and their patients both within the NHS and further afield.

Research Project

Improving the diagnosis of paediatric mitochondrial disease using next-generation sequencing technologies.

Principal Investigators: Professor Rob Taylor, Professor  Zofia Chrzanowska-Lightowlers, Professor Doug Turnbull

Project Details

This project aims to improve the genetic diagnosis pathway for paediatric patients with mitochondrial disease by implementing next-generation sequencing technologies within a diagnostic setting. New technologies will be used to investigate all known mitochondrial disease genes using blood samples, creating a rapid, cost-effective means of obtaining a genetic diagnosis for most children whilst avoiding an invasive and expensive muscle biopsy.

Sponsor/funder: NIHR –CSO doctoral fellowship (NIHR-HCS-D12-03-04)