Ketil Heimdal's research group

Clinical genetics

 
Ketil Heimdal<br>Group leader
Ketil Heimdal
Group leader

Challenges
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 and diseases 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 living 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.

Projects

  • Primary immunodeficiency, autoinflammatory and congenital bone marrow disorders
  • Study group on hereditary connective tissue disorders
  • Craniofacial disorders/craniosynostosis
  • Congenital neurosensory hearing loss
  • Huntington disease (Euro Huntington)
  • Pharmacological treatment of neurofibromatosis 2
  • Other cohort-based projects: Cherubism, hereditary angioedema, hereditary hemorrhagic telangiectasia (Osler disease), ataxia telangiectasia, and more
  • Studies in individual families with rare chromosomal and Mendelian disorders

Contact information:
Group leader Ketil Heimdal MD PhD, Head, Section of Clinical Genetics, Department of Medical Genetics, Oslo University Hospital, PO Box 4950 Nydalen, N-0424 Oslo, Norway, Tel +47 23 07 55 80, Fax: 23 07 55 90 Ketil.Heimdal@ous-hf.no