Researchers from the Institute of Translational Genomics at Helmholtz Munich have described a genetic overlap between type 2 diabetes (T2D), a disease that is also associated with obesity, and osteoarthritis, a degeneration of the joints that worsens with age and coincides in the factor risk of being overweight. The researchers used genetic data, multiomics and functional analysis of the tissues T2D and osteoarthritis express to identify which genes were associated and correlated with both diseases. They published their results on July 10, 2023, in The American Journal of Human Genetics.

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.”

Another brick in the ambitious Human Cell Atlas initiative has been put into place with the publication of the largest and most comprehensive cell map of the human lung. The open and freely available atlas catalogs the diversity of cells in the lung, including rare and previously undescribed cell types.

One of the challenges in designing genetic and cellular strategies is getting the therapy to the right place. This is even more complicated when it comes to the nervous system. The brain is a complex organ that contains the most differentiated and inaccessible cells in human biology. It is an impassable safe, protected by the blood-brain barrier.

Implanting brain organoids into the brains of mice may allow the more realistic study of microglial cells during both healthy and disease states. This is what researchers from the Salk Institute and their collaborators found in a study published on May 11, 2023, in Cell.

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 new mouse model of an inherited form of dystonia has shown the spinal cord is the driver of the condition, overturning previous understanding that the movement disorder is caused by disruption of neural circuits in the brain. The connection was demonstrated by selectively deleting torsin family 1 member A (TOR1A), the gene that causes dystonia, in the neurons of the spinal cord only.

A method for parallel sequencing of single-cell extrachromosomal circular DNA (ecDNA) and full-length mRNA transcriptomes has enabled new insights into the roles of ecDNA in cancer progression, researchers from Charité hospital and the Max Delbrück Center for Molecular Medicine reported in Nature Genetics on May 8, 2023. Circular DNAs are present in at least a third of cancer cells, and their presence correlates with poor prognosis in many cases. They can carry driver genes that have separated themselves from their chromosome of origin, and some research suggests that they serve as “reserve copies” of driver genes. Boundless Bio Inc. is in phase I trials targeting ecDNAs.

RNA editing in schizophrenia (SCZ)-associated genes was decreased in postmortem brains of individuals of European descent, according to a study from the University of California, Los Angeles (UCLA). The scientists obtained the RNA editome from SCZ brains to detect the sequence changes in their RNA and observed hypoediting in noncoding regions related to mitochondrial function, such as the mitofusin-1 (MFN1) gene.

A research team based at MIT and Harvard has engineered a bacterial injection system to precisely deliver proteins to human cells. This work, published online March 29, 2023, in Nature, is important as while more and more molecular therapies are being developed, off-target effects are always a concern and precise targeting of cells and tissues can still be a challenge.