Michael Geraghty

Investigator, CHEO Research Institute

Dr. Michael Geraghty is a member of the Division of Metabolics and Newborn Screening and Professor of Pediatrics. He obtained his medical degree at UCD and a MSc in Genetics at TCD, Ireland. He did his Pediatrics training in Dublin and completed a Fellowship in Medical Genetics at the Johns Hopkins Hospital and Howard Hughes Medical Institute. He remained on Faculty and was the Clinical Director of the McKusick-Nathans Institute of Medical Genetics. He came to Ottawa in 2002 and established the Metabolics program at CHEO. In 2006 he co-established Newborn Screening Ontario with Dr Chakraborty. He has served on many Provincial, National and International committees related to inborn Errors of Metabolism and Maternal and Childhood screening.

His main research interests are the Diagnosis, Pathophysiology and Treatment of Rare Diseases especially as they apply to Inborn Errors of Metabolism. He is also interested in the application of Technologies to Newborn Screening as well as the Clinical and Social Outcomes of those programs.

Research Projects

  1. A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency


    This disorder, which presents with life-threatening neonatal manifestations, appears to follow a remitting course; the long-term prognosis remains unknown.

  2. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria


    Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.

  3. Enantiomeric specific pharmacokinetics of D,L-3-hydroxybutyrate: toward improved treatment for multiple acyl-CoA dehydrogenase deficiency


    The enantiomer-specific pharmacokinetics implies differential metabolic fates of D-3-HB and L-3-HB.

  4. Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening


    Western blotting revealed a 120 kDa protein band, as well as a weaker 240 kDa band in the proband, the significance of which is unknown at this time.