A large-scale study has revealed the impact of germline variants on proteins in 10 cancer types. Scientists from the National Cancer Institute’s Clinical Proteomic Tumor Analysis Consortium (CPTAC) conducted a precision proteogenomic analysis in a pan-cancer study with data from 1,064 patients, identifying tumor heterogeneity and tumorigenesis associated with heritable genetic alterations. The results provide a broad view of cancer risk that could be useful for patient stratification and the design of prevention strategies.

Although the causes of polycystic ovary syndrome (PCOS) are unclear, researchers know this condition leads to endometrial dysfunction in women who have hormonal imbalances, and insulin resistance. Now, a study led by scientists at the Karolinska Institutet in Sweden has revealed the cellular and genetic differences that distinguish this disorder in the first atlas of the human endometrium during the proliferative phase of the menstrual cycle.

The three-dimensional analysis of cell types and their locations by spatial transcriptomics provides key information of their interactions within tissues or organs. Based on this technology, scientists at the Wellcome Sanger Institute have developed an AI tool called Nichecompass, which shows a comprehensive view of the cancer microenvironments, the different cells, their locations, and how they communicate with each other through different molecules inside the tumor. This AI could process data in an hour and compare samples before and after a treatment.

Scientists at the Institute of Cancer Research (ICR) in the U.K. are developing a technology that analyzes, in vitro, how the 3D morphology of cancer cells changes when exposed to a compound, using AI to predict their response to new treatments. The researchers estimate that their methodology could accelerate drug development by 6 years, by ruling out unsuccessful drugs and thus reducing the number of preclinical trials.

The availability of effective antiretroviral therapy has lowered the risk, and the severity, of neural sequelae of HIV infection. “Early in the HIV pandemic, approximately 15% of people with HIV had dementia and or encephalitis,” Howard Fox told his audience. “Fortunately, with treatment, the prevalence of these severe disorders has been greatly lowered. But there is persistence of what are called more minor disorders – which are not minor if you have them.”

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.