Research groups/labs (23)
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.
FMR1 premutation & FXTAS
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by a CGG repeat expansion in the FMR1 gene.
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 - Image Analysis Core Laboratory
LungAnalysis is an image analysis laboratory for clinical research and for the development of innovative image analysis techniques for clinical care.
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.