Autoantibodies call to mind disease – autoimmune disease, to be exact. But the physiological roles of autoantibodies are, at the very least, more complex than this view accounts for. “The autoantibody reactome is extraordinary,” Aaron Ring told BioWorld. “Nearly everyone has autoantibodies, whether they know it or not.”

Bruton tyrosine kinase (BTK) enzyme inhibitors used to treat B-cell cancers, including chronic lymphocytic leukemia and non-Hodgkin lymphoma, also produce resistance by causing mutations in the protein. Now, a study on the BTK degrader NX-2127 showed the compound could be effective in eliminating BTK regardless of its mutations.

Humans love to think of our species as unique. But on a genetic level, such uniqueness is surprisingly hard to find. And while that may be a blow to the ego, it also means that an evolutionary lens is one way to search for insights into human diseases. Animals are “adapted to use the same genes that you and I have, but in very different ways,” Ashley Zehnder told BioWorld. Zehnder is co-founder and CEO of Fauna Bio Inc., which uses comparative genomics to identify gene networks that underlie disease resistance in different animal species.

Investigators have identified five cases of so-called iatrogenic Alzheimer’s disease (AD), that is, AD that was acquired as a result of undergoing medical procedures. A team led by University College London scientists reported their findings online in Nature Medicine on Jan. 29, 2024.

Using interactions between viral peptides and human proteins as a starting point, researchers from Enyo Pharma Inc., the University of Lyon and other institutions were able to bootstrap themselves to a mitochondria-targeting small molecule that showed activity in a mouse model of nonalcoholic steatohepatitis (NASH) with chronic kidney disease.

Researchers at ETH Zurich have identified a proteomic signature that could recognize long COVID six months after acute infection. Biologically, the signature indicated that the complement system remained active in patients with long COVID six months after infection. Translationally, it could lead to a diagnostic test for long COVID, and suggests that targeting the complement system could be a therapeutic approach to prevent or treat the disorder.

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. 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?