Tall, slender, and seemingly extremely fit, she was at one time the fastest woman in the world and an Olympic champion. But she died at home, alone, during labor, in the world’s richest country. Credit: Shaun Botterill / Getty Images How could this happen? “Tragic,” “heartbreaking,” and “totally preventable,” is…

Northwestern Medicine scientists have uncovered a new mechanism by which mutations in the gene parkin contribute to familial forms of Parkinson’s disease. The team used transcriptomics, metabolomics, and super-resolution microscopy, to identify amino acid metabolism as a disrupted pathway in iPSC-derived dopaminergic neurons from patients with parkin-related PD. The discovery, the…

A team led by the Wellcome Sanger Institute and the National Heart and Lung Institute at Imperial College London have produced an in-depth map of the human heart cells and tissue, as well as giving insight into how they communicate with each other. As reported in Nature, the research team…

A team of Austrian researchers using single-cell sequencing has uncovered how cancer cells prevent cells in their environment from fighting the tumor. The research, published in Nature Communications and led by Sabine Taschner-Mandl, PhD, head of the Tumor Biology Group at St. Anna Children’s Cancer Research Institute (St. Anna CCRI),…

Lung cancer is the second most commonly diagnosed cancer worldwide, after breast cancer, with over 2.2 million new cases recorded in 2020 by the World Health Organization’s International Agency for Research on Cancer. It also accounted for nearly 1.8 million deaths in that year, making it the leading cause of cancer…

The beginning of this year marks the 40th anniversary of the passing of the Orphan Drug Act. While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies since then, there are still significant challenges that need to be overcome to reach…

The search to understand and treat cancer triggers a desire to look for the cause. For decades, many clinicians and scientists suggested that genes cause cancer. Siddhartha Mukherjee wrote in The Emperor of All Maladies: A Biography of Cancer, “Cancer, we have discovered, is stitched into our genome.” Indeed, cancer…

Described simply, artificial intelligence (AI) is a field that combines computer science and robust data sets, to enable problem-solving. The umbrella term encompasses the subfields of machine learning and the more recently developed deep learning, which itself is a subfield of machine learning. Both use AI algorithms to create expert…

A team of scientists at the University of Michigan Rogel Cancer Center has identified a protein called ZMYND8 that boosts the resistance of some types of glioma to radiotherapy. Blocking the gene could lead to treatments that make radiotherapies more effective. Glioma is one of the deadliest types of cancers,…

The molecular function of 87 inherited genetic variants affecting the risk of prostate cancer have been identified in a new study using three-dimensional mapping, and the majority appear to control the activity of genes located far away from the risk variants themselves. The study, which was published in Cancer Discovery, also…

Researchers at the Cancer Research UK Cambridge Institute at the University of Cambridge report that using mouse models they have developed a new technique for identifying the different types of cells in a tumor. The method allows tracking of tumor cells during treatment, to observe which types of cells die…

Researchers at the University of California San Francisco (UCSF) have discovered how cancer cells evade targeted therapy using an escape mechanism called phenotype switching, potentially explaining the failure of precision therapies for glioblastoma to date. Glioblastoma is a type of incurable brain cancer with a median survival rate of under…

Genetic sequencing has changed out of all recognition since the Human Genome Project was officially completed in 2003. The technology is faster, cheaper and more accurate, but for a long time the market has been dominated by a few large companies. This is now starting to change and these five…

Differences in gene expression between atherosclerotic plaques have revealed five novel subtypes with distinct underlying biology and clinical presentation. The findings, presented in Nature Cardiovascular Research, have been welcomed in an accompanying editorial as heralding “a new era in understanding atherosclerotic plaques.” The discovery challenges the established dogma of “stable”…

A collaborative research effort by the Icahn School of Medicine at Mount Sinai and the Grossman School of Medicine at NYU Langone Health has further linked a gene concentrated in microglia as a mechanism to the inflammation in the brain, which is a key factor in the development of Alzheimer’s…