Fourteen global pharma companies are getting together to conduct the largest proteomics study to date, analyzing 600,000 blood samples held in the UK Biobank to assess the levels of 5,400 different proteins.

Since its founding by the National Institutes of Health (NIH), the scientists of the All of Us Research Program have set the goal to analyze the largest diversity of the genomic population in the country and end the under-representation of its different groups. The project has expanded the vision of several pathologies, discovered thousands of new genetic variants, redefined the risk genes for common diseases, and stratified them, uncovering eight different forms in the case of type 2 diabetes (T2D). Their results create a pathway for a new age of precision medicine.

The most comprehensive analysis of gene dependencies in cancer cells to date has identified 370 “highly enriched” drug targets in defined molecular backgrounds. This latest iteration of the Cancer Dependency Map, published in Cancer Cell, Jan. 11, 2024, builds on an earlier version published in 2019, which was based on 324 cell lines.

A landmark, real-world study in the U.K. has demonstrated that combining whole genome sequencing with clinical data enabled tailored cancer treatment and improved outcomes. At one health care center, having DNA sequence data led to changes from usual standard of care in 25% of cases. “Mostly, [patients] got into clinical trials; some got medicines they wouldn’t have got. Others avoided medicines because their genetic make-up suggested that if they were exposed to the medicines, they would be at risk of harm,” said Mark Caulfield, professor of clinical pharmacology at Queen Mary University of London, who is co-author of a paper outlining the findings in Nature Medicine, Jan 11, 2024.

The broadest view of post-mortem brains in Alzheimer’s disease (AD) has unveiled the genome, transcriptome and epigenome alterations of this neurodegenerative condition. The coordinated research, directed by scientists at the Massachusetts Institute of Technology (MIT), also described new cellular pathways that could help the scientific community design new therapies. Four simultaneous studies published on Sept. 28, 2023, in Cell, presented a brain single-cell atlas of AD, exposed the damage that affects DNA, and described the processes that alter the microglia and dysregulate the epigenome.

The broadest view of post-mortem brains in Alzheimer’s disease (AD) has unveiled the genome, transcriptome and epigenome alterations of this neurodegenerative condition. The coordinated research, directed by scientists at the Massachusetts Institute of Technology (MIT), also described new cellular pathways that could help the scientific community design new therapies. Four simultaneous studies published on Sept. 28, 2023, in Cell, presented a brain single-cell atlas of AD, exposed the damage that affects DNA, and described the processes that alter the microglia and dysregulate the epigenome.

Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases.

Proteome analysis with artificial intelligence has made it possible to create a catalog of all possible missense mutations in the human genome to predict diseases. The new Alphamissense tool from the technology company Google Deepmind, available online, will allow scientists to refine diagnoses and design more tailored treatment strategies for patients suffering from pathologies associated with these variants.

The phenotypic variety of spinocerebellar ataxias (SCAs) not caused by CAG repeat expansion (polyglutamine SCA) is greater than expected. A collaboration directed by scientists of the Paris Brain Institute described seven variants of this disorder in 756 individuals, observing that age at onset and progression by gene and variant can occur from childhood to late adulthood with very different forms of the disease.

By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.