Psychiatric disorders such as schizophrenia and bipolar disorder are significantly influenced by genetics. However, it is not individual genes that increase the risk of disease, but complex interactions of many gene variants, which have been difficult to understand. A study by Stanford University has used an AI-based algorithm to identify new genetic patterns that may be associated with mental disorders.
The research team analyzed the complete genomes of more than 4,000 people worldwide. The study aimed to investigate mutations and their possible role in the genetic risk for psychiatric disorders. After fertilization, trillions of cell divisions occur, making this early phase of life very error-prone. Each time a cell divides, tiny errors in the genetic material can occur. Rapid replication in the first trimester of pregnancy can lead to various genetic changes not present in the parents.
Participants with a diagnosed psychiatric disorder were specifically selected for the study to compare their genes with a healthy control group. This approach, known as a genome-wide association study, can provide insights into where variants are located in the genetic code, but often does not provide precise information about the type of changes. This is where the developed AI algorithm comes into play. It can describe the type of change in the genes more precisely, helping to better understand the significance of these variants.
The algorithm was able to identify more than 8,000 complex genetic variants with over 85 percent accuracy. Many of these variants were located in DNA regions critical for brain function. To determine whether the identified variants could be associated with psychiatric disorders, DNA was additionally extracted from brain tissue samples of people with schizophrenia or bipolar disorder. It was found that the identified variants overlapped with the results of previous genome-wide association studies, indicating their significance for psychiatric disorders.
The research results show how AI helps to decipher even complex genetic data and uncover new relationships. Modern technologies could not only deepen the understanding of the genetic causes of psychiatric disorders but also advance personalized medicine. The identification of specific gene variants offers great potential for targeted diagnostics and new therapeutic approaches.