Dr James O’Byrne is a consultant Metabolic Physician and Consultant Clinical Geneticist based in the Adult Metabolic Unit at the Mater Misericordiae University Hospital (MMUH) and Associative Clinical Professor in the School of Medicine, University College Dublin.
His special interests include the organelle diseases; Lysosomal Storage and Peroxisomal Disorders and the development and application of gene specific treatments or precision medicine within this field. He is the Principal Investigator in Ireland on a phase 3 clinical trial for a novel therapy for Fabry Disease.
He holds a PhD from the Karolinska Institute, Stockholm in Peroxisomal Disorders and Fatty Acid/ Bile Acid Metabolism and completed a fellowship at British Columbia Children’s Hospital and Vancouver General Hospital, working with patients with treatable genetic disorders that result in intellectual disability.
Working as a Consultant Clinical Geneticist Dr O’Byrne also supports the development of a number of genetic initiatives across a number of specialties including ophthalmology, cardiology, neurology and oncology at the Mater Hospital.
Dr O’Byrne graduated from Medical School in Trinity College Dublin (TCD), attained Certificate of Satisfactory Completion of Specialist Training in Clinical/Biochemical Genetics from the Royal College of Physicians of Ireland (RCPI) and holds a membership examination in paediatrics from RCPI and a basic science degree in Biochemistry from TCD.
Dr O’Byrne is a council member of the Irish Society of Human Genetics and European Society of Human Genetics Education Committee. He has a deep interest in education, lectures in the fields of Metabolic Medicine, Clinical Genetics/Genomics and Rare Diseases and is director of the new ESHG course entitled Precision Medicine: A Focus on Clinical Utility due to start in 2022.