Rebecca Fokkema

Dr. Rebecca Fokkema serves as a Researcher within the Metabolism and Transport (MT) department at the Faculty of Medical Sciences, University of Groningen (UMCG). Her work focuses on inherited metabolic disorders with emphasis on phenylketonuria, newborn screening methodologies, and metabolic homeostasis.

Her research interests span

• Phenylketonuria pathophysiology and treatment optimization
• Novel newborn screening approaches including DNA-first strategies
• Phenylalanine and creatine homeostasis mechanisms
• Dried blood spot monitoring for remote patient management
• Metabolic consequences of kidney transplantation

Current work integrates machine learning with metabolomics for rare disease diagnosis.

Recent publications demonstrate strong focus on translational applications, particularly in

• Glycogen storage disorder diagnostics using acylcarnitine profiles
• Individualized phenylalanine management in neurological contexts
• Treatability criteria for expanding newborn screening panels

Her team actively contributes to European metabolic disorder research networks.

Dr. Fokkema has supervised 4 research projects and delivered multiple professional presentations including 'Dried blood spot monitoring in Tyrosinaemia type I' (2020) and 'Aspartame in soft drinks across Europe' (2019). She has contributed to 16 research datasets with emphasis on mitochondrial fatty-acid oxidation disorders and metabolic modeling.