Spanish National Research Council (CSIC)

Craig Venter, the American biologist and entrepreneur who founded Celera Genomics to launch his own Human Genome Project in 1999 outside the public consortium, died Wednesday in San Diego at the age of 79, according to a statement from the J. Craig Venter Institute, which he led. Among other achievements, Venter completed the first full sequencing of a living organism’s genetic material and announced that he had succeeded in creating synthetic life.

A study published in Science analyzed more than 100,000 human neocortical cells from weeks 13 to 23 of gestation, when cortical neurons are generated. The samples came from 26 donors, some with and others without Down syndrome. Using single-cell genomics, they observed how trisomy 21 disrupts the developmental sequence of various types of neurons, which could explain subsequent differences in cognition. A second study in the same journal, which examines the postnatal brains of children with Down syndrome, finds that many of these changes persist into childhood. The authors note that their study will not have short-term clinical applications, but they hope it can be used to develop specific drugs or create gene therapies. 

One of the best-known genetic risk factors for developing Parkinson’s disease is carrying variants of the GBA1 gene. A new study published in the journal Nature Medicine compared the microbiomes of 43 carriers of this gene who had not developed the disease with those of 271 Parkinson’s patients and 150 healthy individuals. The results showed, in addition to alterations in the microbiome in the patient group, that 25% of the microbiome of carriers of this gene exhibited alterations, representing an intermediate profile between the other two groups. The results were validated using independent cohorts from the United Kingdom, South Korea, and Turkey. According to the authors, “alterations in the gut microbiome can identify individuals with both genetic and non-genetic risk in the general population who may be progressing toward Parkinson’s disease.”
 

A US team analyzed the genetic activity of individual brain cells from 15 men and 15 women and found 133 genes that showed consistent differences. Although biological sex explained only a small part of the differences they found when comparing all the brains, variants in many of these genes have been associated with neuropsychiatric and neurodegenerative disorders—such as ADHD, schizophrenia, depression, and Alzheimer's—suggesting that sex differences could play a role in the distinct risk men and women have of developing certain diseases. The authors, however, acknowledge that the sex-related differences in their study could stem from differences in socialization and experience. The results are published in Science.  

A review of studies conducted by the Cochrane Collaboration analyzed data from 17 clinical trials involving more than 20,000 participants who had been treated with amyloid-targeting drugs—such as lecanemab or donanemab—at a relatively early stage of Alzheimer’s disease. Results at 18 months of treatment show that “the absolute effects on cognitive decline and the severity of dementia were nonexistent or negligible, falling well below the thresholds established for a clinically meaningful difference,” according to a press release. Furthermore, the review concludes that these drugs likely cause more brain inflammation and microbleeds than the placebo.

Repeated cloning cannot be sustained indefinitely in mammals, according to the findings of a twenty-year study on mice conducted in Japan. Serial cloning of mice led to an accumulation of lethal DNA mutations that affected birth rates from the 27th generation onwards, with the 58th generation being the last, according to the article published in Nature Communications, showing that sexual reproduction is necessary to prevent large-scale genetic mutations.

The German mathematician Gerd Faltings has won the Abel Prize, awarded by the Norwegian Academy of Science and Letters. Faltings, director emeritus of the Max Planck Institute for Mathematics, became a celebrity at the age of 29 for proving a conjecture that earned him the Fields Medal in 1986. His contributions have revolutionised arithmetic geometry, a branch of mathematics at the intersection of the two oldest: number theory and geometry.

Global biodiversity is threatened by human impact, which has already led to the extinction of hundreds of species. However, the known tree of life continues to expand with the discovery of numerous clades (groups of organisms that share a common ancestor and all its descendants), according to a international study pubished in PNAS. According to their estimates, made between 2015 and 2020, more than 700 new genera, more than 20 new families, and more than three new orders are described each year, all based on newly discovered species. According to the authors, many new clades remain undiscovered, and describing them before they become extinct should be a priority for research and conservation.

A clinical trial (COSMOS) involving 958 healthy adults with an average age of 70 tested the ability of a multivitamin supplement, together with cocoa extract, to slow ageing. The results, published in Nature Medicine, show that the supplement slightly slowed two of the five biological markers of ageing measured after two years of daily use. The two markers affected were PCPhenoAge and PCGrimAge, whose rate of increase was reduced by 2.6 months and 1.4 months respectively. The slowing effect was greater among participants who initially showed more accelerated ageing. Cocoa showed no effect.

Forest disturbances in Europe—including fires, insect pest outbreaks, and windstorms—could double by the end of the 21st century compared with the 2001–2020 period if emissions are not reduced. In the case of wildfires, the annual area burned could nearly triple. The Mediterranean region ranks among the most vulnerable, and almost 90% of Mediterranean forests could be affected by increased fires and pest outbreaks under higher warming scenarios. The findings are published in a study in the journal Science involving Spanish research centers such as CREAF, the CTFC and the University of Girona.