معرفی
Monique de Sain-van der Velden serves as an Assistant Professor at Utrecht University, with primary research activities conducted at University Medical Center Utrecht (UMC Utrecht). She is embedded within the Child Health strategic research program, specifically contributing to congenital and hereditary disorders and pediatric oncology initiatives. Her translational work bridges clinical pediatrics and advanced biochemical diagnostics to address critical gaps in childhood disease management.
Her research program centers on pediatric metabolic disorders, newborn screening innovation, and oncology diagnostics, utilizing specialized techniques like LC-MS/MS and UHPLC-Orbitrap-HRMS for biomarker validation. Key focus areas include neuroblastoma relapse prediction through urinary catecholamines, sulfatide profiling for metabolic disease diagnosis, and cerebral damage mechanisms in rare disorders like molybdenum cofactor deficiency. This work integrates analytical chemistry, genomics, and clinical pediatrics to develop implementable diagnostic protocols.
Analysis of her 2024-2025 publications reveals a cohesive trajectory in refining newborn screening methodologies using next-generation sequencing while advancing urine-based biomarker applications for metabolic and oncological conditions. Her studies consistently emphasize clinical translation, particularly in optimizing early diagnosis windows and relapse prediction models for high-risk pediatric cancers and inborn errors of metabolism.
Scientific Awards:
- No scientific awards or fellowships were documented in the provided materials.
Advising and Grants:
No explicit information regarding graduate student mentorship or research grant funding was included in the source text. However, her extensive multi-institutional collaborations—particularly with Princess Máxima Center for Pediatric Oncology—suggest active participation in nationally coordinated research consortia focused on pediatric metabolic and oncological disorders.
Laboratory Affiliations:
Dr. de Sain-van der Velden operates within UMC Utrecht's metabolic disease research ecosystem, collaborating across departments including Pediatric Oncology/Hematology. Her work leverages UMC Utrecht's advanced mass spectrometry facilities and integrates with national newborn screening infrastructure, positioning her at the nexus of clinical diagnostics development and implementation science for childhood disorders.
