Healthcare (Commonwealth Union) – The human genome has been decoded many years ago, yet much of it remains a mystery. Recently, researchers at the University of New South Wales (UNSW) have created a method to explore these hidden regions, and their discoveries could fundamentally change our perception of disease.
DNA serves as a personal genetic blueprint, but we still grasp only a fraction of its meaning.
Researchers of the study indicated that we have a decent grasp of the genomic segments that dictate traits—like eye color, heart development, or conditions such as sickle‑cell anemia—but enormous stretches of DNA appear to have no obvious function.
For a long time, scientists labeled this “junk” DNA as evolutionary remnants, vestiges from the billions of years it took life to evolve from simple beginnings to the intricate organisms we see today.
However, the truth is that we lacked both the right questions and the proper tools to investigate it.
Now, innovative techniques pioneered at UNSW Sydney, together with collaborators from the University of Montreal and McGill University, are shedding light on just how crucial the so‑called dark genome truly is.
Scientists anticipate that grasping this concept could open fresh pathways for developing medicines and reshape our perception of disease—and even of life itself.
Our genome is divided into protein‑coding genes, which make up roughly 2 % of the total, and everything else.
Proteins act as the tiny machines that carry out an organism’s functions; the protein‑coding genes serve as the blueprints for those machines.
The remaining 98 % does not code for proteins, follows different principles, and is far more challenging to decipher.
It includes long non‑coding RNAs—once dismissed as mere “junk” DNA.
The study author Associate Professor Martin Smith of the UNSW School of Biotechnology & Biomolecular Sciences pointed out that their goal is to unravel the logical circuitry embedded within the human genome—the concealed instructions that guide DNA in constructing and operating a human body.
While the task is challenging, it’s essential, as research indicates that the origins of numerous illnesses—such as cardiovascular disease, cancer, and certain mental‑health conditions—often reside beyond the well‑characterized protein‑coding sections of our DNA.
Genes that do not code for proteins play vital regulatory functions, switching other genes on or off and reshaping them as needed.
When these regulatory elements act at inappropriate moments, biological systems begin to falter.
Associate Professor Smith pointed out that they believe these RNAs operate like software, directing the protein ‘hardware’ to perform together like a coordinated symphony.
A commonly held view is that we share 60 percent of our DNA with a banana. While that exact figure isn’t accurate, there’s a kernel of truth behind it.
Both humans, bananas, and virtually every other living thing trace their origins back to a primordial mixture of bacteria and single‑celled organisms that existed roughly four billion years ago. Over that immense span of time, portions of our genetic code have remained largely unchanged because they carry out essential cellular functions.
Research indicates that around ten percent of the human genome displays clear, direct conservation with other species, whereas the remaining portion is more subtle and harder to quantify.
“We suspect that the remaining approximatey 90% of the genome harbours many conserved RNA structures that are invisible to traditional approaches – hidden regulatory elements camouflaged in the genome,” explained Associate Professor Smith.
Taking this into account the UNSW researchers produced an AI – a tool called ECSFinder. Associate Professor Smith and his researchers trained the program on known RNA structures to mark secrets not visible in the genome.
“We expect to uncover hundreds of thousands of new RNA structures, adding a new dimension to our understanding of the genome,” explained Associate Professor Smith.
