SMC Spain

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.

The President of the Government, Pedro Sánchez, announced last night at the welcome dinner of the GSMA Mobile World Congress (MWC) Barcelona 2024, the construction of a foundational model of artificial intelligence language, trained in Spanish and co-official languages, in open and transparent code, and with the intention of incorporating Latin American countries. For its development, the Government will work with the Barcelona Supercomputing Center and the Spanish Supercomputing Network, together with the Spanish Academy of Language and the Association of Spanish Language Academies.

The European Medicines Agency (EMA) has recommended granting marketing authorisation in the European Union for a new therapy for the treatment of adult patients with amyotrophic lateral sclerosis (ALS), a rare and frequently fatal disease that causes muscle weakness and leads to paralysis. Qalsody (tofersen) is indicated for the treatment of adults with ALS who have a mutation in the SOD1 gene. There is currently only one treatment for ALS authorised in the EU (riluzole).

US research has analysed data from more than 300,000 people and found that both men with fertility problems and their family members have an increased risk of developing various types of cancer and at an earlier age. The results are published in the journal Human Reproduction.

Children born in October are more likely to be vaccinated against flu during that month and less likely to be diagnosed with the disease than those born in other months, according to a study published in BMJ. The research involved more than 800,000 US children aged two to five years who were vaccinated against the flu between 1 August and 31 January in the period from 2011 to 2018. The results suggest that the month of birth is related to both the timing of flu vaccination and the likelihood of flu diagnosis, and that October is the best month for flu vaccination.

Access to safe public spaces to meet, employment, education and public health are some of the main measures recommended to make cities more friendly to the mental health of young people and adolescents. The analysis, based on surveys of 518 people in several countries, is published in the journal Nature and is intended to serve as a guide for urban planning policies that reduce inequalities and take into account the needs of young people.

Mercury concentrations in tuna have remained stable between 1971 and 2022, even though emissions of this metal from human activities have decreased over the same period, a study says. 'Aggressive' emission reduction targets are needed to achieve measurable declines in concentrations of this pollutant, which is toxic for human health, the authors write in the journal Environmental Science & Technology Letters. The Minimata Convention on Mercury, a global treaty that entered into force in 2017, bans new mercury mines and includes provision to reduce mercury use, but mercury has already accumulated in the ocean 'for centuries', the article says.

At an informative meeting organized by the Science Media Centre Spain, the coauthor of a paper published this week in the journal Cell discussed his findings with journalists. Although the study was conducted with mice, he is confident in being able to analyze human eggs to see if his conclusions could explain the loss of fertility that occurs in women with age.

An international team, led by a Spanish group, has published the mechanism that allows immature egg reserves (oocytes) to survive for many years, up to almost half a century in the case of humans. The research studies how oocytes are affected by protein aggregates similar to those that damage other cells such as neurons and can cause neurodegenerative diseases such as Alzheimer's disease. The finding of how these egg reserves are kept healthy may help to understand some causes of infertility. The results are published in the journal Cell.

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.