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 Laboratory Hub, co-chairs the NHS England Rare Disease Test Evaluation Working Group and is Chair of the Association for Clinical Genomic Science. 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 ~40 disease genes associated with a range of mitochondrial and neurological disease phenotypes and contributing to >550 peer-reviewed scientific papers.

Ana Medeiros is a Senior Technician at Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) and a researcher at the Cardiovascular Centre of the University of Lisbon (CCUL). She holds a PhD in Biochemistry, specializing in Molecular Genetics, from the University of Lisbon. Her research focuses on the genetics of dyslipidaemias, particularly Familial Hypercholesterolemia (FH). She is the project manager of the Portuguese FH Study at INSA, where she works on genetic diagnosis and molecular characterization of FH. She has implemented a next-generation sequencing panel for FH diagnosis, improving genetic screening and patient stratification. She is a biocurator in the FH Variant Curation Expert Panel (FH-VCEP) at the Clinical Genome Resource and collaborates with the EAS FH Studies Collaboration (FHSC). She has 29 scientific publications in top-tier journals and two book chapters, significantly contributing to advances in genetic dyslipidaemias.