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.
Research has tested a gene therapy method that targets overactive cells to treat epilepsy in mice. The results are published in the journal Science.
The Spanish Confederation of Scientific Societies (COSCE) has just published a report, submitted to the EU, which proposes and compares different possibilities for reform of the regulatory framework for genome editing techniques.
The Karolinska Institute has awarded the Nobel Prize in Medicine or Physiology to Swedish biologist Svante Pääbo, a specialist in evolutionary genetics, for his discoveries on the genomes of extinct hominids and human evolution.
A genomic analysis of monkeypox viruses from patients in the ongoing outbreak reveals that it most likely has a single origin. This 2022 monkeypox virus diverges from those of 2018-2019 in many more genetic variations than expected for Orthopoxviruses, which may represent ongoing accelerated evolution, according to the authors. The study is published in Nature Medicine.
A metagenomic comparison of the infant gut microbiome of industrialised and non-industrialised populations reveals robust differences that researchers say are lifestyle-dependent. The research involved samples from infants of Hadza, a group of modern hunter-gatherers living in Tanzania, and is published in the journal Science.