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Bubble boy syndrome is a very serious condition caused by combined immunodeficiency. It is sometimes caused by certain mutations in the gene that codes for the Artemis protein. A phase I-II clinical trial has tested a gene therapy that adds a correct copy of the gene. The results are published in the journal NEJM.
After the World Cup in Qatar, National Microbiology Centre researcher María Iglesias wonders where the social alarm about an alleged outbreak of MERS came from and takes the opportunity to explain some concepts of the virus and its surveillance.
This week the National Statistics Institute (INE) shared the final figures for deaths by cause of death for the year 2021: 39,444 people died from identified covid-19, 34.6% less than in 2020. It also offered preliminary data for the first six months of 2022.
Researchers from FIDMAG Hermanas Hospitalarias and CIBERSAM have announced the development of an algorithm that detects the risk of schizophrenia from fingerprints with a reliability of 70 %. It has been tested on 700 patients with schizophrenia and 850 people without schizophrenia; validation studies are pending.
Governments meeting at the COP15 UN Biodiversity Conference in Montreal (Canada) have reached an agreement after two weeks of negotiations. The "Kunming-Montreal Global Biodiversity Framework" aims to protect one third of land and oceans by 2030.
The survey Scientific Disinformation in Spain, carried out by FECYT in the framework of the European project IBERIFIER, shows that most citizens are concerned about the effects of scientific disinformation and that they do not feel very confident when it comes to differentiating between false and true content. The report includes a series of recommendations for dealing with this type of misinformation, which are reproduced below.
Two decades of work with numerous setbacks, a budget of more than 10 billion dollars and a journey of 1.5 million kilometres to provide us with images of the universe in unprecedented detail have led Science magazine to choose the James Webb Space Telescope (JWST) as the science breakthrough of 2022.
Two preclinical studies published in the journal Science have introduced new bioengineered modifications to CAR-T cells in an attempt to make them more potent and safer in their anti-tumour action. These variations allow their activity to be enhanced only in the vicinity of the tumour or their actions to be regulated on demand.
A study published in the journal Neurology claims to have confirmed the usefulness of a biomarker in blood to diagnose Alzheimer's disease without the need for other tests.
Several media outlets are reporting cases of "camel flu" or MERS-CoV at the World Cup in Qatar, including three French national team players. However, no cases have been confirmed and the news reports speak of non-specific symptoms that could be due to any other infectious condition. This coronavirus, discovered in 2012, has a high case fatality rate and before the start of the competition, the WHO had already asked fans travelling to the country to watch out for possible symptoms.