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Pre-meeting course-1: Methods of research in rare diseases

Tracks
Track 1
Wednesday, May 21, 2025
9:00 - 10:30

Details

ORGANIZERS ESCI YRC: Felippe Zuccolotto Dos Reis, Stefano Ministrini, Deeksha Malhan, Aldo Bonaventura, Harshitha Shanmugham, Patricia Filipa Afonso Mendes, Jamol Uzukov.


Speaker

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Prof. Rob Taylor
Professor of Mitochondrial Pathology
Newcastle University

Translational research in rare diseases: the example of mitochondrial diseases

9:00 - 9:45

Biography

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.
Prof. Mafalda Bourbon
Cardiovascular Research Group
National Institute of Health Dr. Ricardo Jorge

Clinical research in rare diseases: the example of hFH

9:45 - 10:30

Biography

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