Researchers have reported that the predictive abilities of a machine learning algorithm trained using best practices on a large clinical dataset did not generalize beyond the data that was used to train it.

A landmark, real-world study in the U.K. has demonstrated that combining whole genome sequencing with clinical data enabled tailored cancer treatment and improved outcomes. At one health care center, having DNA sequence data led to changes from usual standard of care in 25% of cases. “Mostly, [patients] got into clinical trials; some got medicines they wouldn’t have got. Others avoided medicines because their genetic make-up suggested that if they were exposed to the medicines, they would be at risk of harm,” said Mark Caulfield, professor of clinical pharmacology at Queen Mary University of London, who is co-author of a paper outlining the findings in Nature Medicine, Jan 11, 2024.

Current risk genes for some diseases such as multiple sclerosis (MS) may have emerged in the past as protection against infection by different pathogens. A group of researchers led by scientists from the University of Copenhagen has analyzed the ancient DNA of European populations and has revealed how MS, Alzheimer’s disease (AD) and diabetes arose as populations migrated. This evolution would explain the modern genetic diversity and the incidences of these pathologies observed today in the old continent.

If we unraveled the DNA of the 46 chromosomes of a single human cell, it would barely measure 2 meters. If we did the same with the rest of the body, if we aligned the 3 billion base pairs of its 5 trillion cells, we could travel the distance from the Earth to the Sun more than 100 times. It seems unreachable. However, that is the unit of knowledge of the large sequencing projects achieved in 2023.

If we unraveled the DNA of the 46 chromosomes of a single human cell, it would barely measure 2 meters. If we did the same with the rest of the body, if we aligned the 3 billion base pairs of its 5 trillion cells, we could travel the distance from the Earth to the Sun more than 100 times. It seems unreachable. However, that is the unit of knowledge of the large sequencing projects achieved in 2023. From the generation of the human pangenome to cell-by-cell maps of the brain and kidneys, scientists this year have completed several omics collaborative projects stored in large international databases. Now, what’s the plan?

Kynexis BV recently launched with a series A of €57 million (US$62 million) and a lead asset, Kyn-5356, that targets the kynurenine pathway. The company is preparing for clinical trials that will test the compound for the treatment of cognitive impairment associated with schizophrenia.

Researchers have identified a new class of antibiotics that works by blocking the transportation of lipopolysaccharide (LPS) to the outer membrane of the gram-negative bacterium Acinetobacter baumannii. The most advanced member of the class, zosurabalpin (RG-6006, Roche AG), was effective against multiple A. baumannii strains, including carbapenem-resistant and multidrug-resistant strains.

In November, investigators at the Chinese Academy of Sciences reported generating a chimeric monkey by injecting an embryonic stem cell into the morula, which is an extremely early embryo consisting of 16 to 32 cells.

Researchers have used explainable artificial intelligence (explainable AI) to find structurally new antibiotics with minimal toxicity. They reported their findings online in Nature on Dec. 20, 2023. In animal testing, compounds identified via the method showed that they had activity against drug-resistant gram-positive bacteria including methicillin-resistant Staphylococcus aureus (MRSA), one of the most serious bacterial public health threats.

In their year-end list of top scientific achievements and the people who made them, both Science and Nature have included the fight against “the obesity epidemic.” Science named GLP-1 drugs as its Breakthrough of the Year, while Nature included Svetlana Mojsov in its 2023 list of the year’s most important investigators. Mojsov is research associate professor at The Rockefeller University and was an early contributor to understanding the metabolic role of GLP.