There are approximately 7,000 known rare diseases worldwide, and roughly eight out of ten are of genetic origin, according to the World Health Organization (WHO). Since they are usually caused by single mutations and have a low prevalence—to be considered rare, they must have fewer than five cases per 10,000 people—they have been a largely unexplored and underfunded area. Now, the team led by American researcher David Liu, a professor at Harvard University, a member of the Broad Institute in the United States, and a pioneer of two powerful gene-editing technologies, proposes a new strategy that could be a game-changer. PERT, short for Persistent Emission Tolerance Reduction Technology (PERT), is a research project that focuses on genetic modification and remediation. Prime Editing-mediated Readthrough of Premature Termination CodonsThis is an experimental molecular solution with the potential to greatly improve the treatment of at least 30% of identified rare diseases. Currently, 200,000 mutations causing rare diseases have been documented, but historically these have suffered from a lack of interest from pharmaceutical companies, which do not see the design of drugs specific to each mutation as profitable. While gene-editing tools exist that can correct many of these errors, there is no single solution: specific treatments are needed for each alteration, which fuels the spiral of underfunding and invisibility. Now, Liu's group has designed a kind of "correction pen" for a common type of mutation, which can be used generally in a wide variety of patients with different rare diseases.

Ten years after the UK legalized the possibility of using genetic material from three people to obtain a healthy embryo and avoid life-threatening mitochondrial problems, scientists at Newcastle University conducting the first clinical trial of this technique have confirmed the birth of eight healthy babies using this method. Just over two years ago, the UK's Human Fertilization and Embryology Authority (HFEA) confirmed that until April 20, 2023 there were five, those born of two mothers and a father, within the framework of this trial.

One of the news stories of the month is the publication in the media of a story about plush-like mice with fluffy, golden fur, with an enticing headline about the resurrection of mammoth genes. These mice were created by a privately held biotechnology company, Colossal, which aims to de-extinct species, has set its sights on the mammoth. Aside from the obvious appeal to potential investors, why the mammoth and not any other species? According to the company, They intend to contribute to repopulating the Arctic tundra with mammoths., and solve the problem of the release of CO₂ by permafrost, which would contribute to combating climate change.