Ongoing researches
Below you will find some of the ongoing research that is currently taking place with contributions funded by the ZZF and sponsors. We cannot post all current research here. If you have a specific question, do not hesitate to call or email us.
Discover the Power of 4'-PPT in the Battle against PKAN
PKAN, an abbreviation for Pantothenate Kinase Associated Neurodegeneration, is an extremely rare hereditary condition that affects approximately 1 in a million people.
Seeking therapy for the ultra-rare MATR3 distal myopathy
Distal myopathies are progressive muscle diseases that affect the distal muscles, often first in the hands and/or feet. This leads to loss of function and increasing disability.
Exon skipping for butterfly children
Children with epidermolysis bullosa (EB) are called butterfly children because their skin is as weak as a butterfly's wings.
Research into GRIN syndrome
GRIN syndrome is a rare condition. It is not well known how often GRIN occurs, also because not all patients are diagnosed and GRIN syndrome has only been described since 2010.
Together Strong against Cystic Fibrosis
Cystic Fibrosis (CF) or Cystic Fibrosis is a rare hereditary disease, which has become even rarer due to the division of patients: a large group for which the new medicines work and a small group for which they do not work, which is even more painful now that many people think that CF has been 'solved'.
idiopathic nephrotic syndrome (INS)
Unraveling and healing of nephrotic syndrome in children.
Bone marrow failure in childhood: through innovative diagnostics to individualized therapy
In the Netherlands, approximately 10 children per year are affected by a serious form of bone marrow failure.
Neuropsychological examination of leukodystrophies
"Leukodystrophies” is a collective name for hereditary diseases that affect the white matter of the brain.
Neuromyelitis optica spectrum disorder
Unraveling the cellular changes in neuromyelitis optica spectrum disorder (NMOSD)
Rapid detection of blood poisoning in newborns with new molecular blood test
Every year, 8,500 newborn children in the Netherlands alone are treated with broad-spectrum antibiotics for suspected blood poisoning (sepsis).
Cystic Fibrosis
Cystic Fibrosis (CF) or Cystic Fibrosis is a rare hereditary disease, which has become even rarer due to the division of patients: a large group for which the new medicines work and a small group for which they do not work, which is even more painful now that many people think that CF has been 'solved'.
Analyzing and improving the treatment of severe salivation in children with cerebral palsy or other rare neurodevelopmental disorders
Kwijlen is het onbedoeld verliezen van speeksel uit de mond en is afwijkend wanneer het na de leeftijd van vier jaar nog aanhoudt.
Genetics in the heel prick for serious innate immune disorders
Immune system disorders are rare, hereditary conditions in which part of the immune system does not function properly.