Weekly Reading List: June 2, 2025

Most proteins are left-handed, but scientists have found an ancient molecule that works in both mirror-image forms.

A donor to a European sperm bank has transmitted a likely pathogenic variant for Li-Fraumeni syndrome, a genetic condition that predisposes carriers to a variety of cancers, to almost two dozen children he fathered, of whom 10 have developed cancer so far.

Like a Las Vegas buffet, ASCO offers a diverse bounty of clinical data.

Missense variants are the most common type of protein-altering genetic variation. Due to their wide-ranging potential functional consequences, missense variants are challenging to interpret and, as a result, are often classified as unknown pathogenicity or as variants of uncertain significance (VUSs). Genomic-based predictive tools have made significant inroads into the challenge of accurately pinpointing functional missense variants by providing genome-wide assessments of deleteriousness or potential pathogenicity. Complementary to these tools, here we provide an initial study into the utility of harnessing protein-based measures of amino acid reactivity to delineate functionally significant missense variants. These reactivity measurements, which are generated using mass spectrometry-based chemoproteomic methods, have already proved capable of pinpointing functional sites on proteins, which provide the added value of delineating potential sites suitable for drug-development efforts.

In CHIP, somatic mutations in a hematopoietic stem cell lead to a clonal subpopulation of blood cells. Here, the authors perform a CHIP meta-EWAS to establish its epigenetic features and age-related outcomes.

Here, we present updated versions of SMN and HBA targeted callers, released in DRAGEN v4.4, as well as a spike-in panel that can be used to supplement the Illumina DNA Prep with Exome 2.5 Enrichment panel to allow for accurate HBA and SMN genotyping on Illumina exomes.

Shares of Hologic jumped 15 percent on Tuesday following a report that the company had rejected an offer totaling more than $16 billion to take it private.

Manufacturing CAR T cells in the laboratory is expensive and time-consuming. An in vivo approach could get the powerful therapy to more people.

Most people who take dietary or herbal supplements do so on their own, not under a doctor’s advice.

The recent dismissal of 13 FDA review staff eliminated precisely the kind of government spending that delivered the most bang for the taxpayers’ buck, writes former FDA Commissioner Scott Gottlieb.

Massive study of nearly 26 million research papers measures the consequences of striking out in another research area.

Caris Life Sciences said late Friday that it has filed a registration statement with the US Securities and Exchange Commission for an initial public offering.

Microscopy and genomics are used to characterize cell function, but approaches to connect the two types of information are lacking, particularly at subnuclear resolution. Here, we describe expansion in situ genome sequencing (ExIGS), a technology that enables sequencing of genomic DNA and superresolution localization of nuclear proteins in single cells. Applying ExIGS to progeria-derived fibroblasts revealed that lamin abnormalities are linked to hotspots of aberrant chromatin regulation that may erode cell identity. Lamin was found to generally repress transcription, suggesting variation in nuclear morphology may affect gene regulation across tissues and aged cells. These results demonstrate that ExIGS may serve as a generalizable platform to link nuclear abnormalities to gene regulation, offering insights into disease mechanisms.

The FDA has placed a clinical hold on the study while Rocket works with trial monitors and experts to investigate the cause of the patient’s death.

Recently, a federal judge struck down an FDA rule on laboratory-developed tests. If this invalidation stands, it will have consequences for clinical care and the FDA’s authority over medical devices.

An international study found immunotherapy before surgery could give patients extra years of life.

As the Trump administration cut billions of dollars in federal funding to scientific research, thousands of scientists in the U.S. lost their jobs or grants.

The Human Genome Project began more than 30 years ago, creating a reference map that has since transformed the understanding of how genes contribute to health and disease. Now, the Human Exposome Project seeks to uncover how the complete range of environmental factors shapes health.

Doctor whose discovery helped create mifepristone was ‘guided by his commitment to progress made possible by science’

Researchers estimated 7.5% more U.S. children would get cavities, affecting 25.4 million additional teeth, if fluoridation were banned nationwide

Reducing the number of copies of one gene in the pathogen could also make it more transmissible.

Gene-edited pig kidneys are finally moving the long-stymied field of xenotransplantation forward