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Genotype and Phenotype in Rare Disorders

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.


Our group focus on three areas in reasearch on rare disorders.  

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, ten 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)
Published Dec. 14, 2017 11:40 AM - Last modified Apr. 16, 2018 1:11 PM




  • Benedicte Paus
  • Karen Helene Ørstavik
  • Anne Blomhoff
  • Elisabeth Dramstad
  • Sidsel Egedal
  • Madeleine Fannemel
  • Arvid Heiberg
  • Ketil Riddervold Heimdal
  • Hanne Kjensli Hyldebrandt
  • Øivind Kanavin
  • Linda Mathisen
  • Inger Lise Mero
  • Oddveig Røsby
  • Cecilie Fremstad Rustad
  • Yngve Sejersted
  • Barbro Fossøy Stadheim
  • Lena Lande Wekre
  • Natalya Vigerust
  • Kristin Vinorum
  • Charlotte von der Lippe
Detailed list of participants