genomics

At least some of the genes that enable hibernation in certain animals are also found in our DNA, but they are regulated differently. Now, researchers at the University of Utah (United States) have analyzed the human genome and identified specific regions and changes that affect this regulation, which could be useful in the future to take advantage of some of its benefits. According to the researchers, who share their findings in two papers published simultaneously in the journal Science, "there is a possibility that, by understanding these mechanisms, we may find strategies to intervene and help with age-related diseases and improve our own health".

In 2015, the United Kingdom became the first country to pass legislation allowing the use of mitochondrial donation technology, pronuclear transfer. The technique is designed to limit, through in vitro fertilization, the transmission of mitochondrial DNA diseases in babies born to women who are at high risk, and for which there is no cure. Two studies published in the New England Journal of Medicine (NEJM) describe the results of the first treatments performed to date, from which eight babies have been born by mitochondrial donation, with reduced risk of disease.

An international team, co-led by researchers from the CNAG in Barcelona, has developed a new technique that allows millions of individual cells to be analysed at the same time without the need for sequencing, using what is known as spatial genomics. The technique, called STAMP, could make this type of analysis cheaper and more widespread. ‘We are opening the door to revolutionary advances in precision medicine, enabling the development of highly targeted diagnostics and therapies capable of transforming clinical outcomes,’ say the authors, who publish their findings in the journal Cell.

A technique developed under the coordination of researchers from the Centre for Genomic Regulation (CRG) and the Institute for Biomedical Research (IRB) in Barcelona has made it possible to track methylation patterns or “barcodes” in blood cells and construct their epigenetic family tree. This has enabled them to trace their evolution and changes with age, which could be useful for disease prevention and for the study or even development of specific therapies against ageing. The results are published in the journal Nature.

A research team has managed to ‘rejuvenate’ embryonic stem cells from mice to give them greater differentiation potential, according to an article published in the EMBO Journal. Changing the type of sugar these cells use to grow modifies their metabolism and, according to the researchers, could improve their therapeutic potential or their use in in vitro fertilisation treatments.  

A team of researchers has analyzed more than 300 human genomes from the last 50,000 years and has concluded that most of the gene flow we received from Neanderthals is attributable to a single period, which probably occurred between 50,500 and 43,500 years ago. In addition, Neanderthal inheritance underwent rapid natural selection in subsequent generations, especially on the X chromosome, according to a study published in Science.

A team of researchers at the Centre for Genomic Regulation in Barcelona (CRG) has found that a region of the genome is less active in model mice and people with Down's syndrome. This region is found in the so-called dark genome and does not code for a protein. According to the authors of the study, this "leads to reduced neurogenesis and impaired plasticity, which play a direct role in learning and memory". The results are published in the journal Molecular Psychiatry.

A team of researchers led by the Max Planck Institute for Evolutionary Anthropology in Germany has analysed nearly 10,000 ancient genomes and found six cases of people with Down's syndrome and one with Edwards' syndrome. Most of them died before or shortly after birth. The findings correspond to different periods up to 5,500 years old and several of them have been found in Navarra. According to the authors, "the care with which the burials were carried out and the objects found with these individuals indicate that ancient societies probably treated people with trisomies 18 and 21 as members of their communities". The findings are published in Nature Communications.

A Chinese research team has reported the birth of a crab-eating macaque that is a chimera: an animal generated from the mixing of embryonic cells from two different individuals; in this case, from the same species, according to the journal Cell. Until now, this type of chimera had only been developed with rodents. This is the first time it has been achieved in non-human primates.

A team of researchers has managed to combine more than seven synthetic chromosomes made in the laboratory in a single yeast cell. This involves developing for the first time a eukaryotic cell with more than 50% synthetic DNA, which survives and replicates in a similar way to wild yeast strains. The results, which are part of the Synthetic Yeast Genome Project (Sc2.0), are published in the journal Cell.