Phenotype and Genotype in Rare Disorders

Benedicte PausGroup leader
Benedicte Paus
Group leader

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.

Foto: Både Gudim AS - Illustration photos (not real patients)

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)

Contact information
Group leader Benedicte Paus, Department of Medical Genetics, Tel +47 23 07 55 80