Genetic mapping of hereditary spinocerebellar degenerations

The primary aim of this project is to identify the genetic causes of hereditary spinocerebellar degenerations (HSDs) in a unique material of more than 600 Norwegian patients.

About the project

This work is in close collaboration with Professor and MD Chantal Tallaksen and her research group at the Department of Neurology. They have collected clinical information and DNA from more than 600 patients with hereditary ataxia or hereditary spastic paraplegia. Genetic causes are known in some forms of HSDs; however, in our material more than 50% do not have mutations in the known genes.

The patients are now being further genetically investigated by Kaja Selmer (MD, PhD) in a post-doc project, Iselin Wedding (MD) in a Ph.D. project and by Siri Rydning (MD) who is working 50% as a Ph.D. student in this project. To reveal the genetic causes of these disorders, they apply linkage analysis of families, high throughput sequencing of smaller families and sporadic patients and array Comparative Genomic Hybridisation (aCGH) as methods. Both the post-doc and the Ph.D. project are financially supported by the South-Eastern Regional Health Authority.

Published Jan. 9, 2013 9:25 AM - Last modified Jan. 9, 2013 9:25 AM