Research projects

Cohort-based identification and characterization of mutations in rare chromosomal and Mendelian disorders

• High throughput sequencing in intellectual deficit and congenital anomalies
• High throughput sequencing in epilepsy
• High throughput sequencing in hereditary connective tissue disorders
• Identification of mutations in Osler disease, hereditary angioedema, and craniofacial disorders

Cohort-based characterization of disease mechanisms in rare chromosomal and Mendelian disorders

• Characterization of molecular mechanisms in ciliopathies

Cohort-based studies on surveillance and intervention in rare disorders

• Norwegian study of Marfan syndrome, 10 years follow-up (general and radiological arm)
• International multicenter studies on surveillance and intervention in rare disorders 
  (Huntington disease (Euro Huntington)), cleft lip and palate (TOPS)