Rob Taylor is Professor of Mitochondrial Pathology at Newcastle University, Consultant Clinical Scientist and Head of the NHS Highly Specialised Mitochondrial Laboratory at Newcastle upon Tyne Hospitals NHS Foundation Trust. He is Scientific Director of the North East and Yorkshire Genomic Medicine Service, co-chairs the NHS England Rare Disease Test Evaluation Working Group and is Deputy Chair of the Association for Clinical Genomic Science. He was elected as a Fellow of the Academy of Medical Sciences in 2025. His research focuses on mitochondrial gene discovery and delineating disease mechanisms, translating genomic innovation and discovery into clinical practice through improved diagnosis and clinical management. His laboratory collaborates extensively both nationally and internationally, leading studies to identify >50 disease genes associated with a range of mitochondrial and neurological disease phenotypes and contributing to ~600 peer-reviewed scientific outputs.

Research in my group (“Cellular Bioenergetics”) aims to understand cellular energy metabolism in the context of mitochondrial (dys)function at various levels of complexity (organism, tissues, cells, proteins, molecules). Regarding pathomechanisms,we primarily focus on rare mitochondrial diseases (MDs) including Leigh Syndrome (LS). In this context, research efforts pursue four main goals: (1) to develop, apply and make available novel technologies for (single) live-cell analysis, (2) to provide new fundamental insights into cellular and mitochondrial bioenergetics, (3) to understand the (patho)physiology of MDs driving novel intervention strategies, (4) to disseminate (basic) knowledge and provide counselling to relevant stakeholders.

Johannes A. Mayr is a biochemist at the University Children’s Hospital of Paracelsus Medical University Salzburg in the MetabERN Center MITOHAUS for Mitochondrial Diseases. The diagnosis and treatment of rare genetic diseases, particularly disorders of mitochondrial energy metabolism, are the focus of our laboratory. For diagnostic purposes, we use a combination of genetic and biochemical tests. Genome-wide trio sequencing is generally the test of choice, which also enables the identification of new disease-relevant genes. Understanding the pathomechanism is a central focus of our research and has enabled us to develop and offer tailored therapies for several of our patients.