Scientists have cracked open the genetic vault that holds the keys to understanding why some people develop diseases while others with identical symptoms remain healthy.

Story Snapshot

• EMBL researchers developed SDR-seq technology to read both DNA and RNA simultaneously from single cells
• Most disease-causing genetic variants hide in non-coding DNA regions previously inaccessible to scientists
• The breakthrough could revolutionize personalized medicine and drug development within the next decade
• Traditional genetic testing only captured a fraction of disease-related information stored in our cells

The Hidden Genetic Universe Finally Revealed

For decades, geneticists operated like archaeologists with broken shovels, unable to dig deep enough into the genetic layers that truly matter for human health. The human genome contains roughly 20,000 protein-coding genes, but these represent less than 2% of our total DNA. The remaining 98% was once dismissed as “junk DNA,” yet scientists now understand this vast genetic wilderness harbors the regulatory switches controlling when genes turn on and off.

European Molecular Biology Laboratory researchers developed SDR-seq, a revolutionary sequencing method that reads both the genetic blueprint (DNA) and its active instructions (RNA) from individual cells simultaneously. Previous technologies forced scientists to choose between examining DNA structure or RNA function, like trying to understand a symphony by listening to either the melody or harmony alone, never both together.

Scientists finally read the hidden DNA code that shapes disease https://t.co/RiE9hVsJDP

— Zicutake USA Comment (@Zicutake) October 18, 2025

Why Most Genetic Testing Misses the Mark

Current genetic tests focus primarily on protein-coding regions because they’re easier to interpret and analyze. However, genome-wide association studies consistently reveal that 90% of disease-associated genetic variants occur in non-coding regions. These regulatory elements control gene expression timing, intensity, and cell-specific patterns.

Consider Type 2 diabetes, where dozens of genetic risk variants cluster in regulatory regions rather than the insulin gene itself. Traditional genetic screening might miss these crucial regulatory mutations while focusing solely on the insulin-coding sequence. SDR-seq technology now allows researchers to observe how these regulatory variants actually influence insulin production in living pancreatic cells, providing actionable insights for treatment strategies.

Transforming Disease Prevention and Treatment

SDR-seq enables precision medicine approaches that were previously impossible. Oncologists could analyze both the DNA mutations driving a patient’s cancer and simultaneously observe which genes those mutations actually activate or silence in real tumor cells. This dual perspective eliminates guesswork about whether a genetic variant truly impacts disease progression or represents harmless genetic variation.

The technology also accelerates drug discovery by revealing how pharmaceutical compounds affect both genetic expression and cellular function. Researchers can now identify medications that not only target disease symptoms but also correct the underlying regulatory disruptions causing those symptoms. This approach promises more effective treatments with fewer side effects, since drugs can be designed to restore normal genetic regulation rather than simply blocking disease pathways.

Watch: Uncovering hidden variation in rare and complex diseases

The Road to Personalized Genetic Medicine

SDR-seq technology represents the missing link between genetic testing and clinical application. While consumer genetic tests provide interesting ancestry information and broad disease risk estimates, they cannot predict individual treatment responses or disease progression patterns. SDR-seq bridges this gap by revealing how genetic variants actually function within specific tissue types and disease contexts.

The implications extend beyond individual patient care to population health strategies. Public health officials could identify genetic patterns that predispose certain communities to specific diseases, then develop targeted prevention programs addressing those particular genetic vulnerabilities. This proactive approach could prevent disease outbreaks before they occur, rather than simply treating patients after symptoms appear.

Sources:

https://www.sciencedaily.com/releases/2025/10/251016223110.htm
https://www.embl.org/news/science-technology/new-tool-offers-single-cell-study-of-specific-genetic-variants/