Using Human Cells to Understand Genetic Risk for Brain Diseases

By advancing techniques for revealing genetic information in single cells, researchers were able to distinguish > 60,000 cells in the human brain based on their gene expression patterns and categorize them into 35 different cell types.

The technique allows scientists to identify which cells in the brain express disease-associated genetic risk factors, which can provide insights into the cellular processes leading to pathology in the human brain. For example, they found that most of the genes associated with Alzheimer’s disease are expressed by an immune cell type, suggesting that inflammation plays a major role in this disease.

The approach allows human organs and tissues to be studied at the single cell level to provide insights into normal and pathological human functions. As more advanced techniques are developed to study human tissues, it will be easier for scientists to conduct experiments with human samples to produce human-relevant results.

Lake BB, Chen S, Sos BC, et al. Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain. Nat Biotechnol. Published online December 11, 2017. doi: 10.1038/nbt.4038.