genomics

A team of scientists led by the Catholic University of America in Washington has designed new artificial vectors based on viruses to improve gene therapy processes. The main novelty is that they are constructed from viruses that infect bacteria. Among other advantages, this would make it possible to avoid the possible memory of our defences against them and have a greater capacity. According to the authors, who publish their results in the journal Nature Communications, these nanoparticles "have the potential to transform gene therapies and personalised medicine".

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".

Seven studies published in Nature and Nature Medicine look at how lung cancer evolves, with genomic studies of more than 1,600 tumour samples taken from 421 patients in the TRACERx project. The research includes the most common type of lung cancer (NSCLC) and assesses why tumours sometimes recur, spread to other parts of the body or the effects of platinum-based chemotherapy.

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.