Sophia Children's Hospital

Research projects (28)

C9orf72 dna streng

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.

cam study

CAM Study

Assessment of central airways mechanics using Magnetic Resonance Imaging (MRI) and bronchoscopy: a comparison.

CHIP family

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

FragileX

Fragile X syndrome

Fragile X syndrome is the leading monogenic cause of intellectual disability and autism.

HAPPY IBD

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.

Research project default image

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.