Dr. Mardhiah Masri is a Chemical Pathologist at the Specialised Diagnostic Centre, Institute for Medical Research (IMR), Kuala Lumpur, Malaysia. She obtained her Doctor of Medicine (MD) degree from Universiti Kebangsaan Malaysia in 2013 and a Master of Pathology (Chemical Pathology) from Universiti Teknologi MARA in 2023. Dr. Mardhiah’s research focuses on the investigation and diagnosis of rare genetic diseases mainly inborn error metabolism (IEM), which include test development and biomarker discovery related to IEM.