Scientists who investigate complex genetic disorders look at large groups of people, up to millions. In such a study they investigate, for example, which genetic variants (DNA mutations) are common in people with cardiovascular diseases. In this way, they find pieces of DNA that seem to have something to do with hereditary disorders.
Schizophrenia
Finding those links often leads to new questions. For example, how do genetic mutations common in schizophrenia patients affect their brains? A group of researchers, including neuroscientists Marijn Schipper and Danielle Posthuma, developed a predictive model that combines dozens of genetic data sources to link such mutations to genes. This allows them to find out which processes are different in the cells of people with a genetic predisposition to a specific disorder. Their study was published in Nature Genetics.
'This model allows us to extract a lot of additional information from existing population studies,' says Schipper. 'By applying this model to a population study of schizophrenia, we have discovered new cellular processes involved in schizophrenia.'
Medicine
Other researchers are now also able to gain even more knowledge from the hundreds of genetic population studies on various disorders. Schipper: 'From previous research, we know that drugs for disorders that affect genes are 2.5 times more likely to be approved if such a population has already linked them to this condition. So a more precise prediction of relevant genes could yield a lot of new therapies for complex inherited disorders.'