The Team

Dr Ines Barbosa

Bioinformatician, Guy's & St Thomas' NHS Foundation Trust

Ines is a research associate working on the Lily Exome Project. She applies computational techniques to analyse genetic information, helping identify the faulty genes in patients who have been diagnosed with mitochondrial disease. Having a confirmed genetic diagnosis allows patients and their families to consider treatment pathways, take part in patient trials and plan their futures. With a success rate of almost 73% confirmed or probable diagnosis, the project has been steadily changing lives for the better since it was launched in 2014. In several happy cases it has even enabled families affected by mitochondrial disease to have healthy babies free from the condition.

Ruth Glasgow

Molecular Biologist, Wellcome Centre for Mitochondrial Research

Ruth is a research student on the Lily Exome Project, investigating patient cell lines and tissue biopsies to identify, validate and better understand the effects of specific nuclear genetic changes that cause mitochondrial disease. Her work focusses on mutations that disrupt mitochondrial translation, the process by which mitochondria make essential proteins that are encoded within the mitochondrial genome. This valuable work will expand the current knowledge of mitochondrial genetics and improve the rate of genetic diagnosis for families with mitochondrial disease.

Dr Kyle Thompson

Molecular Biologist, Wellcome Centre for Mitochondrial Research

Kyle is a research associate on the Lily Exome Project, working to establish the genetic diagnosis of patients with mitochondrial disease, while pursuing ongoing research into mitochondrial biology. Exome sequencing identifies more mutations than previous sequencing technologies have allowed, but this alone is not enough to confirm a genetic diagnosis. Kyle studies tissue samples and cell lines from patients to pinpoint causative genetic changes. His efforts have already helped to successfully identify and validate causative mutations in several genes that were not previously linked to mitochondrial disease, allowing accurate genetic diagnoses, counselling and prenatal diagnoses to be given to many more families.

Dr Alex Clout

Research Associate, UCL Institute of Neurology

Alex is a postdoctoral research fellow at the UCL School of Pharmacy and UCL Institute of Neurology. He is working to develop intravenous and oral modified release preparations of nicotinamide riboside (NR). NR is a natural precursor to NAD+, a molecule essential for energy production, that has been proven to improve symptoms in mouse models of mitochondrial disease. To ensure the successful transition of NR into human clinical trials, it is important to maximise the quantity of NR successfully delivered to the mitochondria inside the cells. Alex is developing new NR formulations to achieve this goal, with the long term aim of using these during clinical trials of mitochondrial disease in children and adults.