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, interpretation of results from the molecular analyses, and genetic counseling. 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 biological basis of the disorders are necessary for developing medical treatment. We feel an obligation to utilize the scientific opportunities in our unique position.

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Group members focus on three areas in research on malformations and rare Mendelian disorders.

Case- and cohort-based identification and characterization of mutations in

• Intellectual deficit and congenital anomalies
• Epilepsy, brain malformations and craniofacial disorders
• Vascular malformations and hereditary vascular connective tissue disorders
• Disorders of sexual development

Cohort-based characterization of disease mechanisms

• Characterization of molecular mechanisms in ciliopathies and brain malformations
• Inflammation markers in hereditary aortic aneurysm and dissection

Cohort-based studies on surveillance and intervention in rare disorders

• Norwegian study of Marfan syndrome, 10 years follow-up (radiological arm)
• Members in eight different European Reference Networks for rare and low prevalence complex diseases that require highly specialized treatment and care (neuromuscular, metabolic, immunodeficiency, cleft lip and palate, craniofacial, vascular malformations, hereditary thoracic aortic aneurysm and dissection groups)

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

Contact information
Group leader Benedicte Paus, Department of Medical Genetics, Tel +47 23 07 55 80
E-mail: benedicte.paus@ous-hf.no