First map of genetic variation in humans could revolutionise healthcare

Washington, Sept 16 (ANI): European scientists have created a map that points to the genetic causes of differences between people.

The study, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.

Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today.

Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders.

This study adds a functional interpretation to the most important catalogue of human genomes.

"The richness of genetic variation that affects the regulation of most of our genes surprised us," study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University, said.

"It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes," Lappalainen added.

Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different diseases.

Senior author Emmanouil Dermitzakis, Louis Jeantet Professor at UNIGE, who led the study, emphasises that today's study has profound implications for genomic medicine.

The study is published in Nature and Nature Biotechnology. (ANI)


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