A new multi-omics approach to unpicking how noncoding gene variants influence the development of common chronic diseases has identified tens of thousands of instances where variants have an impact on gene expression levels and gene splicing, the post-transcriptional modification that allows one gene to code for multiple proteins.

For the first time, researchers have identified that inflammation – long associated with multiple sclerosis (MS) – appears to cause increased mutations that damage neurons linked to MS progression. Researchers at the Florey Institute and the University of Melbourne studied MS brain lesions, which are areas of past or ongoing brain inflammation that are visible as spots on MRI scans.

An international consortium of thousands of scientists is creating the Human Cell Atlas, a three-dimensional map of all the cells in the body. The goal is to understand all the cells that make up human tissues, organs and systems, which will enable multiple medical applications. This collection of cell maps is openly available for navigation at single-cell resolution, identified through omics analyses that reveal the tridimensional distribution of each cell.

A new study helps explain the role of genetic variation in shaping gene regulation in the Indonesian archipelago, one of the most diverse regions in the world. “This study is the only study of splicing from Southeast Asian populations. There is basically no data from this part of the world,” study author Irene Gallego Romero told BioWorld. For drug discovery, most of the people that have historically participated in clinical trials are of European ancestry, and scientists are just beginning to study African populations to better understand genetic differences in these populations, said Romero, a population geneticist and biological anthropologist at the University of Melbourne.

Investigators at the University of Edinburgh have identified a genomic location linked to sensitivity to gabapentin in individuals with idiopathic chronic pelvic pain.

The big advantage of cell culture to model diseases is its throughput. “You can play the disease over and over again in the dish,” Clive Svendsen told the audience at the International Society of Stem Cell Research (ISSCR) Annual Meeting held in Hamburg last week. That high throughput, however, is not particularly useful if the cell lines themselves do not accurately model the disease. Cancer cell lines are used in many cell culture experiments far beyond cancer for their ability to grow. But they are “highly abnormal,” Bill Skarnes told the audience at an innovation showcase, as well as quite unstable. “I don’t think the [HEK-293] cell line is the same in your lab as it is in the lab next door,” Skarnes said.

A new methodology based on the regulation of genetic enhancers has made it possible to develop a cellular map that reveals new types of helper T cells related to immunological disorders that could be explored for the development of new therapies. “I am very interested in the function of rare T cells, and I am trying to analyze their function by eliminating certain rare T cells with antibodies with ADCC [antibody-dependent cell-mediated cytotoxicity] activity or by disrupting genes that characterize rare T cells in animal models,” senior author Yasuhiro Murakawa told BioWorld.

Alzheimer’s disease (AD) is a neurodegenerative condition in which amyloid plaques and neurofibrillary tangles accumulate in the brain. In addition to genetic factors, DNA damage and epigenetic alterations also play a key role in the pathogenesis and progression of this disease, altering gene expression, the functioning and maintenance of brain cells. DNA double-strand breaks (DSBs) and chromatin accessibility are two hallmarks of AD whose study could reveal new ways of approaching this disease.

Scientists from the PsychENCODE Consortium have analyzed the brain transcriptome in a coordinated series of studies to map all the cell types, genes, epigenetic factors, and molecular pathways involved in different psychiatric disorders. After a first set of projects based on bulk analysis, the second phase of this project included 14 simultaneous publications that revealed the cellular atlas of post-traumatic stress disorder (PTSD) and major depressive disorder (MDD), among others.

A protein whose expression decreases during aging could be key to preserving cellular maintenance mechanisms and preventing the progressive loss of muscle mass that occurs during aging. Scientists from the Institute for Research in Biomedicine (IRB) and the University of Barcelona (UB) have revealed the role of the TP53INP2 protein in autophagy and the effects of its reduction on skeletal muscle during aging.