Inborn Errors of Metabolism (IEM) & Genetic Unit
Inborn Errors of Metabolism (IEM) & Genetic Unit
The Inborn Errors of Metabolism (IEM) and Genetic Unit is dedicated to studying rare genetic diseases, including inborn errors of metabolism (IEM) and Spinal Muscular Atrophy (SMA).
Our team focuses on discovering new biomarkers, developing diagnostic test kits, finding potential treatments, building disease models, and applying bioinformatics to analyze complex biological data. Notably, the unit is also involved in the development of a kit assay for SMA through industrial collaboration, advancing translational applications of our research.
We work closely with local, international, and industry partners to accelerate discoveries and translate scientific innovations into meaningful improvements in health and patient care.
Executive Summary
Head of Inborn Errors of Metabolism (IEM) & Genetic Unit
Dr. Julaina binti Abdul. Jalil
M.D (USM, Malaysia), MPath Chemical Pathology (UKM, Malaysia)
Telephone: +603-33627791
Email: julaina.jalil@moh.gov.my
Human Resource Profile
Specialist
Medical Officer
Research Officers
Scientific Officer
Support Staffs
Focus Area
Discovery, Treatment & Management, Prevention, Prediction: Rare Genetic Disease
Scope: Metabolomics/Proteomics/Genomics, Test kit development, evaluation & validation,
Drug discovery - pre-clinical, Bioinformatics, Disease model
Highlights:
Biomarkers characterisation of neurotransmitter disorder in Malaysian infant
Development of assay for early detection of Spinal Muscular Atrophy (SMA)
Potential small molecules as pharmacological chaperone for the treatment of mucopolysaccharidoses
Molecular modeling and molecular dynamics simulation of mutation in rare disease
Development and validation of an iPSC-derived 3D brain organoid model