Scientists have mapped out the so-called "dark matter" found in the human genome, which could lead to pinpointing genetic causes of various diseases.

The mysterious "dark matter" is a part of the human genome that regulates the genes and is responsible for many disease-causing mutations. Scientists have long hypothesized the existence of such regulatory sequences but have been unable to find them, hence naming them after the mysterious dark matter in astrophysics.

The study by researchers from the Broad Institute in Cambridge, Mass., used 29 mammals to compare their genomes with 20 previously unsequenced genomes to discover the regulatory sequences that are common across different DNA.

"With just a few species, we didn't have the power to pinpoint individual regions of regulatory control," said Manolis Kellis, co-author of the study and associate professor of computer science at MIT.

"This new map reveals almost 3 million previously undetectable elements in non-coding regions that have been carefully preserved across all mammals, and whose disruptions appear to be associated with human disease."

The scientists believe that their findings could help with discovering new treatments to genetic diseases.

"Most of the genetic variants associated with common diseases occur in non-protein coding regions of the genome. In these regions, it is often difficult to find the causal mutation," said lead author Kerstin Lindblad-Toh, scientific director of vertebrate genome biology at Broad and a professor in comparative genomics at Uppsala University, Sweden.

"This catalog will make it easier to decipher the function of disease-related variation in the human genome."

This new map of the hidden part of the human genome could also help other researchers find genetic causes for diseases. Pinpointing the mutations that caused diseases in individuals will also reveal potential drug treatments.

"We can use this treasure trove of new elements to revisit disease association studies, focusing on those that disrupt conserved elements and trying to discern their likely functions," said Kellis.

"Using a single genome, the language of DNA seems cryptic. When studied through the lens of evolution, words light up and gain meaning."