Genetics of Neurodegenerative disease

Neurodegenerative diseases, such as dementia and parkinsonism are progressive common, age-related diseases, affecting millions of people worldwide. These diseases therefore pose an increasing medical and economic problem due to expected demographic changes in our ageing society. Effective treatment so far is very limited and treatment strategies that halt or slow the progression of the disease are lacking. The causes for these diseases are in most cases still unknown but genetic factors are increasingly recognized in their aetiology, even in a proportion of apparently sporadic cases. Several genes causing monogenic forms of disease have been identified and the molecular pathways identified in these forms have been found to contribute, in different ways, to the pathogenesis of the more common sporadic diseases. The knowledge of the involved genes and molecular pathways is starting to provide the basis for designing strategies towards more effective treatment that is urgently needed.

As the genes and mutations known at present certainly do not yet reflect all of the molecular mechanisms involved, the study of families and the use of well characterized populations, including genetic isolates, will help to identify further components of the pertinent pathogenic pathways. Within the section of Medical Genomics we have several research projects aimed towards the identification of new genes involved in neurodegenerative diseases. In addition we are performing functional studies on identified genes in order to understand the role of these genes in the pathogenesis of disease.