New single-cell tool reveals hidden links between genes and disease

Ever wondered why certain diseases seem to run in families, or how tiny changes in our DNA can lead to serious health conditions? Scientists have developed a powerful new tool ¹ that simultaneously analyzes both DNA and RNA within individual cells, offering unprecedented insight into how genetic variations contribute to disease.

The Problem With Current Technology

Until now, researchers faced a significant challenge: existing single-cell methods couldn’t effectively study DNA and RNA together at scale. This limitation was especially problematic because over 95% of disease-related genetic variants occur in non-coding regions of the genome—areas that previous tools struggled to analyze effectively. A new single-cell DNA-RNA sequencing technology (SDR-seq) overcomes these limitations by using microscopic oil-water droplets, each containing a single cell. This approach allows researchers to examine thousands of cells at once, directly connecting genetic changes to gene activity.

Real-World Applications

Testing the technology on B-cell lymphoma samples revealed that cancer cells with more genetic variants showed increased signals promoting cancer growth. Cells with different variant profiles displayed distinct tendencies toward more aggressive disease states.

This breakthrough opens new possibilities for understanding complex diseases linked to genetic variations, including congenital heart disease, autism, and schizophrenia. Despite its potential to enable better diagnostic screening tools, more targeted treatment approaches, and personalized medicine, it is still early days. We have no choice but to wait and see what the future awaits in the hope that this technology will do revolutionalise future medicine.