Institute of Neuroscience

Staff Profile

Dr Charlotte Alston

Visiting Fellow

Background

Background

Mitochondrial 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 10 years working in the Nationally-Commissioned mitochondrial diagnostic laboratory in Newcastle. Our current testing strategy relies upon functional analysis of a muscle biopsy and selective candidate gene sequencing; whilst this strategy establishes a genetic diagnosis for many patients, approximately half our patients remain without a genetic diagnosis.  

I am particularly interested in paediatric mitochondrial disease, and spent much of my PhD improving the genetic diagnosis pathway for paediatric patients with mitochondrial disease through implementation of next-generation sequencing (NGS) technologies within a diagnostic setting.

For families who have lost a child, establishing a genetic diagnosis means that we can offer reproductive options to Mum and Dad such as prenatal testing by either chorionic villus biopsy or amniocentesis enables us to determine - from as early as 10 weeks of gestation - whether their subsequent pregnancies have inherited the same gene mutations.

My doctoral work has been remarkably successful in obtaining a rapid genetic diagnosis for patients and their families, and has enabled us to undertake prenatal testing for a number of families. 

A targeted approach to genetic diagnosis of paediatric complex I deficiency has shown that many patients' genetic defects affect a gene outwith those that encode the structural subunits and assembly factors of complex I, revealing that isolated complex I deficiency is considerably more genetically heterogeneous than initially suspected. We remain optimistic that we will be able to obtain a genetic diagnosis for these undiagnosed patients as our diagnostic algorithm continues to expand.

 

Qualifications

2017                            PhD, Newcastle University

2003                            BSc (Hons) Genetics (Immunology), University of Aberdeen

 

Professional Bodies

2007-present               HCPC registered Clinical Scientist                 CS17436

 

Society Membership

2004-present               British Society of Genetic Medicine


Committees

2015-present               ED&I committee member, Institute of Neurosciences, Newcastle University

Publications