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 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.