Sophia Children's Hospital
Research groups (22)
Atopic dermatitis & the Atopic syndrome
Atopic dermatitis is the commonest chronic skin disease in children. It is mild in about 70% of cases, moderate in 25% and severe in 5%.
Autism Spectrum Disorder
We disentangle the autism spectrum phenotype using various diagnostic approaches, relate the core problems to frequent other problems, and explore developmental courses.
Diseases of Unstable Repeat Expansion
More than 20 genetic diseases have been associated with unstable repeat expansion; the pathogenic mechanisms involve either loss of protein function or gain of function at the protein or RNA level.
General Pediatric Emergency Care
Focus on research questions arising from the clinical care at the pediatric emergency department.
GI-Genetics Hirschsprung disease (HSCR)
Which genetic factors determine the development of the gastrointestinal (GI) tract, and how do these genetic factors contribute to disease development?
Hearing loss in children
Although most apparent in later stages of life, it is probable that hearing acuity gradually declines with age and should therefore be studied at young ages as well.
Immunedysregulation in atopic skin diseases
Atopic dermatitis and Netherton syndrome might be systemic diseases like primary immunodeficiencies (PIDs).
Acquired pediatric laryngotracheal stenosis (LTS) is a rare but life-threatening disease which usually occurs after a prolonged period of intubation.
LungAnalysis Core Lab
LungAnalysis is an image analysis laboratory of the Erasmus Lung Imaging Group.
Lysosomal and Metabolic Diseases - Clinical Research
Lysosomal and metabolic diseases are rare genetic disorders caused by metabolic enzyme deficiency.
Macrophages in the healthy and diseased brain
Mutations in genes important for microglia, the brain’s macrophages, can predispose to brain diseases such as Alzheimer’s. The underlying mechanisms are largely unknown.
Molecular stem cell biology of lysosomal storage diseases
These diseases are rare genetic disorders caused by a deficiency of metabolic enzymes. Metabolic products accumulate throughout the body, affecting multiple organs and tissues.