Abstract
Norwegian population registries, cohorts and biobanks are unique resources for discovery of genetic and environmental causes of disease. Based on this infrastructure for research, we have developed a cluster of studies on causes of autism spectrum disorders, epilepsy, cerebral palsy, ADHD and other neurodevelopmental conditions. These are all sub-studies of the Norwegian Mother and Child Cohort Study (MoBa) with about 270 000 participants. Information on diagnoses is obtained from the Norwegian Patient Registry, clinical assessments, and from questionnaires.
Recently, we have demonstrated that mothers who took folic acid supplements in early pregnancy had a significantly reduced risk of having children with autistic disorder and severe language delay compared with mothers who did not take folic acid. The results have been published in The Journal of the American Medical Association (JAMA). We are now proceeding to perform whole exome (and hopefully whole genome) sequencing of child-parent trios from the MoBa sub-study of autism, The Autism Birth Cohort (ABC) Study. The aim is to identify genetic variants, particularly de novo mutations, and to study their relation with folic acid/one-carbon-metabolism, viral infection and immune reactions, and a range of other environmental exposures with a possible etiologic role in autism and related CNS disorders.
Camilla Stoltenberg
Director-General, Norwegian Institute of Public Health