Sophia Children's Hospital
Research projects (28)
Amyotrophic lateral sclerosis (ALS) and frontaltemporal dementia (FTD)
Both ALS and FTD can result from a GGGGCC repeat expansion in the C9orf72 gene. While normally the repeat is present 2-8X, in ALS/FTD patients it can be expanded 100x to 4000x.
Assessment of central airways mechanics using Magnetic Resonance Imaging (MRI) and bronchoscopy: a comparison.
CHIP-Family for young children with congenital heart disease
We are researching the effect of the multidisciplinary, psychosocial CHIP-Family intervention on wellbeing of young children with congenital heart disease and their families.
Effects and health economic aspects of enzyme therapy with Pompe disease
Fragile X syndrome
Fragile X syndrome is the leading monogenic cause of intellectual disability and autism.
Reducing symptoms of depression and anxiety in young patients with inflammatory bowel disease (IBD) in order to improve quality of life and the clinical course of disease.
Immune responses in neurodegenerative diseases: Protection or progression?
We investigate brain immune cells (microglia) in zebrafish genetic models to gain insight in the roles of these cells in human brain diseases.
Juvenile Lichen Sclerosus
Lichen sclerosus of the vulva (VLS) is a chronic skin condition affecting women of all ages. Major symptoms are pain, pruritus and permanent loss of the architecture of the labia.
Microbiome in atopic dermatitis (AD)
The skin microbiome is the collection of micro-organisms that reside on the skin. The Staphylococcus aureus bacterium is more abundant in atopic dermatitis.
MRI of respiratory muscle dysfunction in Pompe disease
With spirometer-controlled MRI scans we evaluate the function of respiratory muscles in various stages of Pompe disease as well as the effects of enzyme replacement therapy.
Neonatal erythroderma & collodion
We investigate the characteristics and causes of neonatal erythroderma and collodion babies using a multidisciplinary national protocol with Next Generation Sequencing.
Neuro-cognitive consequences of lysosomal storage disorders
Most lysosomal storage disorders affect the central or peripheral nervous system. In this study we assess the frequencies and courses of neurologic and neuro-cognitive symptoms.