Catalan researchers participate in groundbreaking primate genome study

Researchers at Barcelona's Pompeu Fabra Unversity (UPF) and other institutes were among those in 24 different countries who contributed to the most extensive genomic study of primates ever, sequencing over 800 genomes from 223 species. 

Their findings, published in a special edition of 'Science' on June 2, provide us with surprising clues about what makes us human from a molecular perspective.

"Thanks to having now 233 species of primates, we can narrow down the number of mutations that are specific to our lineage," Tomàs Marquès-Bonet, a UPF genomics researcher who headed the study, told Catalan News in a recent interview. 

"We have reduced that number by half, so everything boils down now to 80 genes in the human lineage with changes that are just in our species," he explained. 

Because living primates share more than 90% of DNA with one another, these findings also offer insights into the genetic causes of human diseases. If a mutation is tolerated in another primate, there is a 99% chance it will not cause problems for humans.  

The study has implications for biodiversity too: before scientists thought genetic diversity within a species aligned with extinction risk; now it seems some populations have declined so rapidly that they have not had time for inbreeding. 

Barcelona's National Center for Genomic Analysis

Scientists in Catalonia are at the forefront of this groundbreaking research thanks to institutes such as the National Center for Genomic Analysis (CNAG) in Barcelona where 8 in 10 of the study's genomes were sequenced.

"About 90% of our work is in human disease-related kinds of studies and then we have a small proportion, 10%, that is in other species," said CNAG director Ivo Gut.

But, as the primate genome study demonstrates, even those that are not directly related to human diseases offer key insight into the matter.

"You try to go from doing something that is directly measured in humans and then you move over into a model organism or a related organism and then you bring that information in," Gut said. 

AI to detect pathogenic mutations

While these findings were published in Science magazine a little over a week ago, the research is not over. 

Ilumina, a US-based biotech multinational that partnered with the primate genome researchers involved in this study, has developed AI software that could soon provide us with even more information about human disease.

Its neural network is able to look at benign variants in genes and by process of elimination, which regions are likely to cause disease if mutated, allowing it to predict pathogenic variants in humans better than scientists can.

Back in Barcelona, primate genome research has not come to a halt either. "We are now moving it up to trying to [sequence] 2,000 different [primates] in this so this is quite a huge continuation of what we've been doing," Gut said, likening genomic research to exploring uncharted territory. 

"It is a little bit like sailing across an ocean and having no clue where you are," he said. "it's only when you hit a continent or a country that you then sort of 'Oh, now I know where I am.'"