CSIC Delegation in the Region of Valencia

Most rare diseases are caused by mutations in DNA, but the same gene can mutate in different ways, which complicates treatment. Now, a team from the CRG in Barcelona has shown that an already approved drug is capable of stabilising almost all mutated versions of a human protein—specifically, the vasopressin V2 receptor, which is linked to a rare disease called nephrogenic diabetes insipidus. According to the researchers, who published their findings in Nature Structural & Molecular Biology, the study is the first proof of concept demonstrating that a drug can act as a ‘near-universal’ treatment, which could accelerate the development of therapies.

Cosmological models suggest that matter and antimatter were created in equal amounts in the Big Bang, but in the current universe matter seems to predominate over antimatter. This imbalance is believed to be due to differences in the behaviour of the two, a violation of symmetry known as CP violation. This effect was predicted by the Standard Model of Physics and observed experimentally in mesons more than 60 years ago. Now, the LHCb collaboration at CERN, which includes significant Spanish participation, has observed this phenomenon for the first time in the decay of baryons, particles that make up most of the matter in the observable universe. The study is published in Nature.

The KATRIN (Karlsruhe Tritium Neutrino Experiment) team has published the most accurate measurement to date of the upper limit of the neutrino mass in the journal Science, establishing it at 0.45 electronvolts (eV), less than a millionth of the mass of an electron. The KATRIN experiment, launched in 2018 in Germany, will finalise its neutrino mass measurement campaign this year, having reached 1,000 days of data acquisition.

While some studies have suggested that having a mother with Alzheimer's may increase the risk of developing the disease, a new study reveals that having a father with the disease may be related to a greater spread of tau protein in the brain, which is a sign of the disease. The study, published in Neurology, does not prove that having a father with Alzheimer's causes these brain changes; it only shows an association.

A set of articles published in Nature and Nature Methods draws a high-resolution map of the structure of and connections between the brain cells of mice. The map is based on data from a single cubic millimetre of brain and includes more than 200,000 cells, around 84,000 neurons and 524 million synaptic connections. Although this is a very small part of the mouse brain, it will help us understand how different types of cells work together.

An international team with Spanish participation has analysed the usefulness of a blood biomarker - the p-tau217 protein - for detecting Alzheimer's disease in 1,767 patients. According to the authors, who publish the results in the journal Nature Medicine, the test has detected the disease with high reliability in four hospital cohorts, as well as in a primary care cohort. They add that it is an assay that can be easily implemented in clinical laboratories and is already routinely used in some centres in Spain.

EMA’s human medicines committee has recommended not authorising the marketing of Kisunla (donanemab), a drug intended for the treatment of early-stage Alzheimer's disease. The committee considered that the benefits of this drug were not great enough to outweigh the risk of potentially fatal events. In recent years, several patients have died due to microbleeds in the brain.

An international team of scientists from the KM3NeT collaboration has detected the signal from the highest-energy cosmic neutrino to date, some 30 times higher than those previously detected. The result suggests that the particle came from beyond the Milky Way, although its precise origin has yet to be determined. The results are published in the journal Nature. 

Meeting in the city of Windoek (Namibia), the plenary of the IPBES - Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services - has ratified two new reports: the Nexus Assessment and the Transformative Change Assessment. Three of their authors explained the main findings and the changes they propose at a briefing organised by SMC Spain.

More than three-quarters of the earth's land surface experienced drier climates between 1990 and 2020 compared to the previous three decades, according to a new report by the United Nations Convention to Combat Desertification. Over the past 30 years, 40.6 percent of the global landmass, excluding Antarctica, is classified as drylands, three percentage points more than the previous three decades. The report, which is being presented at the COP16 on desertification being held in Riyadh, Saudi Arabia, also shows that 2.3 billion people were living in drylands in 2020, a population that could rise to 5 billion by 2100 under a worst-case climate change scenario.