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.

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.

Scientists at Egenesis Inc. have transplanted kidneys from genome-edited pigs into cynomolgus monkeys that remained functional for long periods after transplantation. The monkeys, whose own kidneys were removed during the surgery, survived for a median of 176 days after receiving one pig kidney. Maximal survival was just over 2 years. The data were published today in Nature. Egenesis CEO Mike Curtis told reporters that the study has achieved the longest survival to date “using clinically translatable immunosuppression … longer survival has been achieved using really aggressive immunosuppression that really isn’t clinically translatable.”

Quantum dots, a phenomenon in quantum physics that alters the energy of electrons and changes the properties of particles, caught the attention of the Royal Swedish Academy of Sciences (KVA) for the 2023 Nobel Prize in Chemistry. Alexei Ekimov and Louis Brus received the award for their discovery; Moungi Bawendi, for developing its applications. With their work, “in equal shares,” said the Secretary General of KVA Hans Ellegren, the three scientists have laid the foundations of nanotechnology, a tool that we see today in our homes, on televisions and LED lamps, or in laboratories and hospitals for designing new drugs or new strategies against cancer.

A new gene editing method uses the CRISPR technique to modify the cells of an organ in vivo, creating a mosaic used to identify the effects of each altered gene. Scientists from the Swiss Federal Institute of Technology (ETH) in Zürich developed this technology called AAV-Perturb-seq, based on adeno-associated virus (AAV) to target, edit and analyze single-cell genetic perturbations.

Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases.

Artificial intelligence (AI) continues to entice. On the exhibition floor at the 2023 Congress of the European Academy of Neurology, one company’s booth featured “Mindart” technology. A passersby could answer a short series of prompts, and get a unique image based on the input made by generative AI. Entertainment aside, medically speaking, AI applications “are still research,” Riccardo Soffietti told his audience at one of several sessions devoted to AI. “But obviously, research is the future.”

Investigators have identified a second individual who remained cognitively normal into his late 60s despite having the PSEN1 E280A mutation, which causes a familial version of early-onset Alzheimer’s disease (AD). The likely source of protection, a mutation in a gene called Reelin, is distinct from the protective mechanism identified in the first case of an individual who was protected from the effects of PSEN1 E280A. That case was reported in 2019.

A base-by-base comparison of the genome sequences of 240 species of mammals has pinpointed sites in the human genome where mutations are likely to cause disease. The sites are all perfectly conserved across the mammalian family tree over 100 million years of evolution, indicating they underlie fundamental biological processes that do not tolerate diversity or change very well.

Unlike amphibians, mammals do not regenerate appendages. Except when they do. “If you amputate one of the branches off of the antler [of a reindeer], it will also regenerate,” Jeff Biernaskie told BioWorld. Even without amputation, the antlers of both male and female reindeer regenerate annually, including their skin. That regeneration is “the only large mammal model of true skin regeneration,” he said.