Isolates. Last week, the FinnGen biobank went live, and Nature dedicated an entire issue to the launch of this initiative. In brief, FinnGen is a large Finnish research project providing genomic and clinical data from a Finnish biobank with the aim to provide new insights into human disease. Finland is an isolated population, which offers unique insights into the role of rare variants in disease. When I checked the FinnGen database for association with SCN1A, I was surprised that three missense variants have been associated with various diseases. Here is what a founder population can tell us about the various roles of SCN1A in human disease. Continue reading
Tag Archives: dementia
Endophenotypes for Alzheimer’s disease – GWAS on CSF tau levels
Beneath the surface. Endophenotypes sound great on paper. As the actual disease phenotype is difficult to classify and complicated, a biomarker is used for genetic analysis that is assumed to be closer to the genetic underpinnings of a disease than the disease itself. A recent study in Cell now investigates the hunt for risk factors for Alzheimer’s disease using a well-established endophenotype. The results demonstrate the complexity of endophenotypes and the difficulties in interpretation. Continue reading
Mutations don’t always cause disease, quite the opposite
A mutation in APP protecting against Alzheimer’s disease. Alzheimer’s disease is one of the leading causes of dementia in the Western world. In rare familial forms of Alzheimer’s disease, variants in the APP gene are well-known to be disease-causing. This led Jonnson and colleagues to search for additional rare variants in the APP gene that might be associated with further cases of Alzheimer’s disease. When they analysed their datasets, they stumbled across an associated APP variant. However, this variant does not increase the risk for Alzheimer’s, it reduces it… Continue reading
