Recent developments in gene technology, bioinformatics and high throughput gene sequencing provide great possibilities for identifying the molecular cause of genetic disorders. There is an increasing demand for competent clinical genetic characterization of patients, guidance, and interpretation of results from the molecular analyses. The recognition and diagnosing of rare genetic disorders is a particular challenge. Viewed collectively, rare disorders are frequent. Combining clinical expertise, high throughput sequencing, functional studies, and bioinformatic analyses allows us to define new disorders and to determine the underlying cause of previously described disorders of unknown etiology. The majority of individuals and families with rare disorders in Norway are referred to OUH. Knowledge of the natural history and the biological basis of the disorders are necessary for developing medical treatment. We have an obligation to utilize the scientific opportunities inherent in our unique position.
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study
Am J Med Genet A, 182 (2), 397-408
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Genet Test Mol Biomarkers, 23 (11), 783-790