Scientists discover how human diseases arise

A team of European scientists led by the biologist Tomàs Marquès sequenced the genome of more than 800 non-human primates from 233 different species, to later compare it with that of 141,456 people. The result, the revelation of up to four million genetic mutations in the human genome, some of which may be associated with different pathologies.

The research, published by the Science magazine, highlighted that the comparison of human genetic information with that of primates serves to reveal the origin of our diseases. This was stated by the Marquès himself. “Our results show that by studying primates we can better understand humans”, said the biologist, who at the same time put forth the following statement about this study. “It is the most comprehensive database of primate genetic diversity.”

The experts who carried out the analysis compared the samples from species close to humans, such as chimpanzees, gorillas and orangutans. Also some that are in critical danger of extinction, such as the Sahafary’s jumping lemur, native to Madagascar. The data was used for the development of the PrimateAI-3D deep learning artificial intelligence algorithm, a system similar to ChatGPT applied to the field of genetics, to identify disease-associated mutations.

Likewise, the system was able to identify 73% of the existing links between genetic variants and pathologies, including some of great complexity such as cancer or diabetes. “There are common mutations that contribute but, for the first time, we can say that there are rare mutations, infrequent, that have a very large impact on these complex diseases. And we have achieved this with an algorithm trained with primates”, said the biologist.

Regarding the specific cause of these diseases, Marquès gave the following explanation. “The cause is not a mutation in a gene, but a combination of many things.” There is a belief that some diseases can be caused when mutations with a “mild” effect, act to cause polygenic diseases, such as diabetes, heart disease or cancer. Now, the algorithm can serve as a tool to determine their exact origin.

The creation of this algorithm, in turn, represents a fundamental advance for science in order to overcome the limitations of human and clinical genetics to detect those mutations that cause diseases. At this time, the genetic causes of many serious diseases are unknown. “This study will open up a wide range of research avenues for future primate genomics research,” the research authors concluded.

The NOVA1 gene, another noteworthy element of the study

However, it was not the only relevant discovery of the research that began in 2015. Marquès emphasized the detection of 89 variants in 80 genes that would explain what a human being is, as is the case of NOVA1 gene, which encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, which is recognized and inhibited by paraneoplastic antibodies. In addition, it plays a fundamental role in brain development.