Dr. James O'Byrne




Dr James O’Byrne MB BCh BAO, BA mod (Biochem), PhD, MRCPI, Cert Med Gen (UK Path)

Dr James O’Byrne is a Consultant Clinical/Biochemical Geneticist (Temporary), based in the Adult Metabolic Unit at the Mater Misericordiae University Hospital (MMUH).

Working as a Metabolic Physician his special interests include the organelle diseases, Lysosomal Storage and Peroxisomal Disorders and he holds a PhD from the Karolinska Institute in Peroxisomal Disorders and Fatty Acid/ Bile Acid Metabolism. Supported by the Richard Steevens scholarship fund, he was a fellow at British Columbia Children’s Hospital and Vancouver General Hospital, working with patients with treatable genetic disorders that result in intellectual disability. Dr O’Byrne also currently supports the development of a number of genetic initiatives across a number of specialties including ophthalmology, cardiology, neurology and gastrointestinal cancer at MMUH.

Dr O’Byrne graduated from Medical School in Trinity College Dublin (TCD). He attained Certificate of Satisfactory Completion of Specialist Training in Clinical/Biochemical Genetics from the Royal College of Physicians of Ireland (RCPI). Dr O’Byrne also 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. He lectures in the fields of Metabolic Medicine, Clinical Genetics/Genomics and Rare Diseases on a number of teaching modules in RCPI and University College Dublin. His research interests include treatable genetic conditions and currently is the Principal Investigator in Ireland on a phase 3 clinical trial for a novel therapy for Fabry Disease.