Rebecca Heiner-Fokkema

Dr. Rebecca Heiner-Fokkema is a Clinical Chemist specializing in inborn errors of metabolism at the University of Groningen's Faculty of Medical Sciences. Her research encompasses:

• Newborn screening methodologies
• Metabolic disorder diagnostics
• Biochemical monitoring of inherited disorders
• Metabolomics applications

Her extensive publication record demonstrates significant contributions to phenylketonuria research and neonatal screening programs. Research focuses include:

• Development of DNA-first newborn screening approaches
• Metabolic profiling in genetic disorders
• Biomarker discovery for treatment monitoring
• Point-of-care testing for metabolic diseases

She actively contributes to international consortia evaluating tyrosinemia screening and develops novel diagnostic algorithms using machine learning approaches for rare metabolic conditions.