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.

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.

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.

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.