genetics

A special issue published in the journals Science and Science Advances shares for the first time the genomes of hundreds of primates, representing 86% of known genera. One of the papers -co-led by the Institute of Evolutionary Biology and the Pompeu Fabra University- analyzes the relationship between the genes of these animals and the risk of suffering from certain diseases such as cancer in humans.

In a series of three articles and a companion article - collected in Nature Biotechonology - Nature publishes the first draft of the human pangenome reference, which contains highly detailed data from 47 genetically diverse individuals. The first human genome was published more than two decades ago but, being from a single person, it does not represent human diversity, whereas the pangenome refers to the gene pool of our entire species. The ultimate goal of the Human Pangenome Reference Consortium project is to include genetic material from 350 people by 2024. It is hoped that this data will allow more clinically relevant genetic variants to be identified.

A study led by Spanish researchers and published in Science Advances has tested a new technique to improve gene therapy treatments for Parkinson's disease. Using ultrasound, they have managed to open the blood-brain barrier in specific areas, allowing the viruses used in the therapy to pass through and better reach the desired brain areas. After testing it on monkeys and three patients -patients were not given gene therapy, but the efficacy of the technique was tested using a radiotracer that does not normally cross the blood-brain barrier-, their conclusions are that the technique is safe and feasible and "could allow early and frequent interventions to treat neurodegenerative diseases".

The former Minister of Health, Carolina Darias, announced a few days ago at a press conference the creation of new medical specialities. The first to "begin the process" will be emergency medicine, which had caused "controversy in different autonomous communities and scientific societies" and for whose implementation a consensus has been reached. It will be followed by other specialities such as Clinical Genetics and Infectious Diseases, as announced in the Senate in February.

A study has analyzed the genetics of 302 dogs living in areas close to the Chernobyl nuclear power plant. According to the study, they show genetic differences according to the distance they live from the plant, which distinguish them from other dog populations. The results are published in the journal Science Advances.

A study in California has found that 41% of deaths in the first year of life are due to genetic diseases. This percentage is higher than previously thought. According to the authors, strategies to improve neonatal genetic diagnosis may reduce infant mortality, as this diagnosis is sometimes missed or arrives late. The research is published in JAMA Network Open.

In January 2013, two laboratories demonstrated that CRISPR tools could be used to edit genes in human cells. Ten years later, the first patients are already benefiting from the molecular scissors to overcome incurable diseases. This week in Science, one of the pioneers of CRISPR, Nobel laureate Jennifer Doudna, summarises the history of these tools, without forgetting that it all began thirty years ago with the findings of Francis Mojica in the Santa Pola salt flats.

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.

A team of researchers from the Health Institute Carlos III has published an article quantifying the diagnostic delay of rare diseases in Spain with data from the period 1960-2021. The study reveals that more than half of the patients experienced a delay in diagnosis, that the average delay exceeds six years, and that both the percentage of those affected by the delay and the average time have decreased over the years.

A genetic association study using data from more than three million people has found nearly 4,000 variants associated with smoking and alcohol consumption. The results are published in the journal Nature.