Genetic studies of dementia disorders

We have access to more than 200 families with inherited forms of Alzheimer's disease (AD), frontotemporal dementia, dementia with Lewy bodies, and vascular dementia. Samples collected from members of these families are utilized for studying the genetics of dementia disorders. Our research involves the exploration of mutations within already identified disease genes, as well as genes not previously associated with dementia. Through such clinical samples, we have previously identified several disease-causing mutations, significantly enhancing our understanding of the underlying mechanisms in Alzheimer's disease. Utilizing high-throughput sequencing technology, we can rapidly and cost-effectively detect mutations in numerous genes. Through this approach, we have successfully identified several new disease mutations and are investigating the mutation effects in detail.
DNA samples obtained from almost 400 AD patients and 300 healthy controls are used for population-based investigations aimed at identifying genetic risk factors. Additionally, we have access to genetic data from the Uppsala Longitudinal Study of Adult Men (ULSAM). Furthermore, we participate in a large European consortium dedicated to studying dementia genetics, under the leadership of researchers in Lille, France.