Using whole genome sequencing, scientists at Boston Children’s Hospital have studied the genes and mutations of ataxia-telangiectasia (A-T) that would respond to treatments with splice-switching antisense oligonucleotides (ASOs). Their work, published on July 12, 2023, in Nature, determined the appropriate individualized genetic therapy for these patients and identified a new drug.
After CAR T-cell immunotherapy for leukemia, some children have a longer remission because the engineered cells remain active and control or prevent the growth of new tumor cells. A new collaborative study has found that these persistent cells expressed certain genes that could be identified through a transcriptional signature. The finding could explain why the treatment does not work in some patients, and potentially help to improve it, reducing relapses.
A chance discovery has led to a new class of antibiotics with multiple arms that interacted with the cell wall of gram-positive bacteria, inhibiting their assembly and disarming them. “It was an accidental discovery. We were using it to stain cells. We also were running evaluations of antibiotics. One of my former students came to me and said: ‘I think we have discovered something that is quite potent as an antibiotic,’” the senior author Xingyu Jiang told BioWorld.
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.
Schizophrenia (SCZ) could be associated with genetic alterations that can appear at the beginning of life. Such somatic variants in the NRXN1 and ABCB11 genes could lead to SCZ, according to researchers at Boston Children’s Hospital.
Alterations in chromosome number can play a role in cancer progression. An analysis of recurrent aneuploidies, such as the duplication of the long arm of chromosome 1, revealed that it was required for the proliferation of cancer cells carrying this alteration, an effect that was similar to so-called oncogene addiction. These findings have therapeutic implications that could benefit cancer patients depending on the genetic singularity of their tumor cells.
Parasitic diseases caused by trypanosomatid protozoa have long been treated with traditional methods. However, the effectiveness of current treatments for leishmaniasis is limited. Some are toxic, or have been abandoned, such as in the cases of Chagas disease and human African trypanosomiasis (HAT), commonly known as sleeping sickness.
The development of an embryo in its early stages involves a series of processes in which cells interact and organize to form tissues. In humans, these stages are studied with animal models, stem cells and cell aggregates that mimic natural development phases, or with human embryos, depending on their availability and a strict protocol. Now, in back-to-back papers published online in Nature, scientists from Yale University and the University of Cambridge have two new embryonic models formed from human stem cells to study development after embryo implantation in the uterus.
Over the past decade there has been much research into the use of induced pluripotent stem cells (iPSCs) as a cell therapy to regenerate tissue and treat heart disease. Now, one researcher has narrowed the focus down to treating heart disease not with whole cells, but with mitochondria derived from iPSCs. Gentaro Ikeda, a researcher at the Department of Medicine at Stanford University, has worked on generating extracellular vesicles (EVs) containing mitochondria from pluripotent stem cell-derived cardiomyocytes and administering these to restore the functionality of the myocardium in a porcine model of an infarct.
Several developmental biology and regenerative medicine laboratories that use cellular reprogramming techniques presented their latest results on the differences in the states of induced pluripotent stem cells (iPSCs) during a Plenary Session on “Epigenetic regulation of distinct cell states” at the Annual Meeting of the International Society for Stem Cell Research (ISSCR), in Boston from June 14 to 17, 2023.