Completed researches
Below you will find some of our completed researches.
Marshall-Smith Syndrome
Research into the functioning of the NFIC gene for treatments for children with Marshall-Smith Syndrome
Childhood leukemia
An important complication of the treatment of childhood cancer is the occurrence of infections.
Improving the effect of immunotherapy by radiotherapy for patients with soft tissue sarcomas
Sarcomas are malignant tumors originating from bone, connective or supporting tissue. There are more than 70 different types of sarcomas.
Rare brain tumor: Vestibular Schwannoma
A vestibular schwannoma (VS) is a brain tumor that originates from the nerve sheath (Schwann cells) surrounding the auditory nerve at the level of the brain stem.
Gyrate Atrophy
Gyrate Atrophy (GA) is a very rare hereditary metabolic disease.
Marfan Syndrome
Patients with Marfan Syndrome have a hereditary condition in which the protein fibrillin-1 is defective.
FAMMM
Familial atypical multiple mole melanoma syndrome (FAMMM syndrome, OMIM 606719, ICD-10 D22.9, ORPHA 404560) is a rare hereditary tumor syndrome
Leigh's syndrome
MDC1A
MDC1A (merosin negative congenital muscular dystrophy, type 1a) is a congenital muscle disorder in which the patient lacks the substance merosin in the muscle. This makes the muscles less strong than usual.
Mucosal melanoma
Mucosal melanoma, also known as mucosal melanoma, is a very rare and very aggressive form of cancer.
SCID
SCID (Severe Combined Immunodeficiency) is a genetic disorder that results in an immune system that functions poorly or not at all.
MIBG therapy for Neuroblastoma
Neuroblastoma is a tumor that originates from the involuntary nervous system (also called the sympathetic nervous system).
Sarcomas
Sarcomas are malignant tumors originating from bone, connective or supporting tissue.
SEPN1
The SEPN1 disease belongs to the group of congenital muscular dystrophies.
Cystic Fibroses (CF)
Cystic Fibrosis (CF), also called Cystic Fibrosis, is caused by an abnormality in the so-called CFTR protein.
PKAN
PKAN (Pantothenate Kinase-Associated Neurodegeneration) is a hereditary disorder that falls under a group of rare disorders characterized by iron overload in the brain, Neurodegeneration with Brain Iron Accumulation (NBIA).
Kawasaki
Kawasaki is a rare heart disease that causes vascular inflammation in children.
ALS
ALS is a rare condition that causes increasing muscle weakness in the arms, legs, face and trunk.
Necrotizing Enterocolitis (NEC)
Necrotizing Enterocolitis (NEC) is a fatal intestinal disease that affects approximately 150 prematurely born incubator children every year.
Sanfilippo
Sanfilippo is a very progressive and fatal metabolic disease.
OI
Osteogenesis Imperfecta (OI) is an inherited connective tissue disorder with a prevalence of 6-7/100,000.
Huntington's disease - marking & identification HTT
Huntington's disease is a hereditary disease with almost 2,000 patients and 8,000 risk carriers in the Netherlands.
CVID
Children and adults with the rare disease CVID (Common Variable Immunodeficiency Disorder) have a poorly functioning immune system that does not produce antibodies.
Meningitis
Saving babies' lives through faster diagnosis of the life-threatening infectious disease Meningitis.
Biomarkers for classical galactosemia
Patients with classic galactosemia (KG) cannot burn galactose (milk sugar, from milk or breast milk) properly.
Epidermolysis Bullosa (EB)
Epidermolysis Bullosa is a fatal condition that makes the skin as fragile as a butterfly's wings.
SEPSIS
Sepsis (blood poisoning) is an acute, serious bacterial infection.
Targeted treatment for patients with Penile Carcinoma
Targeted treatment with immunotherapy, also for patients with penile carcinoma.
Blood vessel biomarkers in Systemic Lupus Erythematosus (SLE)
Systemic Lupus Erythematosus (SLE) is a serious, lifelong autoimmune disease that mainly affects young women aged 15-40.
Looking for a treatment for North Sea disease with the fruit fly
De Noordzeeziekte is een zeldzame, progressieve, erfelijke aandoening waarbij patiënten al op zeer jonge leeftijd last krijgen van evenwichtsstoornissen, schokken in het hele lichaam en epilepsie.
Sickle cell disease
Sickle cell disease is a rare, congenital blood disorder with a shortened life expectancy.
Secondary hemophagocytic lymphohistiocytosis (HLH)
Secondary hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that affects both children and adults.
MLC
MLC (Megalencephalic Leukoencephalopathy with subcortical cysts) belongs to the so-called white matter diseases.
