Research projects
Group members focus on three areas in research on malformations and rare Mendelian disorders.
Case- and cohort-based identification and characterization of mutations in
- Intellectual deficit and congenital anomalies
- Epilepsy, brain malformations and craniofacial disorders
- Vascular malformations and hereditary vascular connective tissue disorders
- Disorders of sexual development
Cohort-based characterization of disease mechanisms
- Characterization of molecular mechanisms in ciliopathies and brain malformations
- Inflammation markers in hereditary aortic aneurysm and dissection
Cohort-based studies on surveillance and intervention in rare disorders
- Norwegian study of Marfan syndrome, 10 years follow-up (radiological arm)
- Members in eight different European Reference Networks for rare and low prevalence complex diseases that require highly specialized treatment and care (neuromuscular, metabolic, immunodeficiency, cleft lip and palate, craniofacial, vascular malformations, hereditary thoracic aortic aneurysm and dissection groups)