Weekly Reading List: June 30,2025

A local inventor is trying to make a name for himself in a rather unusual way.

Eric Green said the process leading to his ouster as a NIH institute director by the Trump administration remains “shrouded in mystery”

To advance our understanding of drug action in physiologically-relevant systems, we developed a high-throughput transcriptomic atlas of compound responses in primary human cell types. Leveraging the scalable and cost-effective Digital RNA with the pertUrbation of Genes (DRUG-seq) assay, we profiled gene expression responses to 89 pharmacologically-active compounds across six concentrations in four distinct primary cell types: aortic smooth muscle cells (AoSMCs), skeletal muscle myoblasts (SkMMs), dermal fibroblasts, and melanocytes.

Author summary It is well recognized that genomic studies have been biased towards individuals of European ancestry, and that obtaining medical insights for populations under-represented in medical genomics is crucial to achieve health equity. Here, we use genomic information to identify networks of individuals in New York City who are distinctively related to each other, allowing us to define populations with common genetic ancestry based on genetic similarities rather than by self-reported race or ethnicity. In our study of >25,000 New Yorkers, we identified seven highly-interrelated founder populations, with 201 likely disease-causing variants with increased frequencies in specific founder populations. Many of these population-specific variants are new discoveries, despite their high frequency in founder populations. Studying recent genetic ancestry can help reveal population-specific disease insights that can help with early diagnosis, carrier screening, and opportunities for targeted therapies that all help to reduce health disparities in genomic medicine.

Here the authors show that chromosomal instability signatures can predict resistance to anthracycline-, taxane- and platinum-based chemotherapeutics in breast, ovarian and prostate cancer and sarcoma. Validation is performed through emulation of phase 2 and 3 clinical trials using real-world data.

Discovery of human footprints in alluvium dated to the Last Glacial Maximum (LGM) at White Sands, New Mexico, was a notable step in understanding the initial peopling of the Americas, but that work was met with criticism focused on the reliability of the materials used in the radiocarbon dating (seeds of Ruppia and pollen). This paper reports on an independent study of the chronology of a previously unrecognized stratigraphic record of paleolake Otero that is directly traceable into the track-bearing alluvium.

A global study finds large numbers of children are unvaccinated against diseases like measles, tuberculosis and polio, which makes outbreaks more likely.

Illumina said Monday that it will acquire proteomics technology originally developed by SomaLogic, among other assets, from Standard BioTools for $350 million in cash. The deal also includes up to $75 million in near-term milestone cash payments and performance-based royalties.

Department of Health and Human Services (HHS) Secretary Robert F. Kennedy Jr. | HHS Secretary Robert F. Kennedy Jr. defended his reorganization of the agency and the proposed fiscal 2026 budget that cuts funding by 25% during a hearing Tuesday of the House Energy and Commerce Health subcommittee.

A key GOP senator is calling for the CDC’s vaccine meeting to be postponed after RFK Jr. shook up the panel.

Biased agonism of G protein-coupled receptors (GPCRs) offers potential for safer medications. Current efforts have explored the balance between G proteins and β-arrestin; however, other transducers like GPCR kinases (GRKs) remain understudied. GRK2 is essential for β2 adrenergic receptor (β2AR)-mediated glucose uptake, but β2AR agonists are considered poor clinical candidates for glycemic management due to Gs/cyclic AMP (cAMP)-induced cardiac side effects and β-arrestin-dependent desensitization. Using ligand-based virtual screening and chemical evolution, we developed pathway-selective agonists of β2AR that prefer GRK coupling.

Author summary Although extensive investigations have been conducted on the bat virome, most studies have focused on fecal samples, leaving other tissues, such as the kidney, largely unexplored. However, the kidney can harbor important zoonotic pathogens, including the highly pathogenic Hendra and Nipah viruses, and genomic evidence of henipaviruses in bats from China has remained undocumented. In this study, we report the first detection of two novel henipavirus genomes from bat kidneys in China, one of which is the closest known relative of pathogenic henipaviruses identified to date. Beyond virome analysis, our study also examined highly prevalent bacteria and eukaryotic microbes, identifying those potentially relevant to bat infections. Overall, these findings provide valuable insights into the infectome of the bat kidney, highlighting the need for broader microbial surveillance beyond the gastrointestinal tract.

Global developmental delay and intellectual disability (GDD/ID) in children are common concerns primary care pediatricians face. GDD/ID have diverse etiologies, but genetic disorders account for a substantial percentage. Establishing a genetic diagnosis provides multiple benefits for the patient and family, including improvements in patient care and determination of recurrence risk.

Introducing a new, unifying DNA sequence model that advances regulatory variant-effect prediction and promises to shed new light on genome function — now available via API.

npj Genomic Medicine - MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission

Recent developments in base editing technologies enable the correction of mutations in the mitochondrial genome, but its therapeutic potential remains unclear. This proof-of-principle study shows that mitochondrial base editing can functionally create and correct mitochondrial pathogenic mutations in patient-derived cells.

New members of the ACIP panel raised questions about the evidence supporting COVID vaccines, and signaled plans to look at other established shots, like those for measles and hepatitis B.

Agency’s action deemed in violation of federal law

A study reports the development of a method to trace intercellular transfer of mitochondria, and demonstrates that cancer cells that receive mitochondria from neurons have enhanced metastatic capabilities.

Using uv with Jupyter: demo using polars and seaborn for analysis and visualization.

Artificial intelligence and deep learning are carving out substantial roles in proteomic workflows, improving peptide and protein identifications, advancing applications like de novo sequencing, and allowing scientists to more accurately and comprehensively model biological systems.

Thanks to DNA sequencing, the discovery of new blood groups has accelerated in recent years.

The American College of Medical Genetics and Genomics (ACMG) previously published guidance for reporting secondary findings (SFs) in the context of clinical exome and genome sequencing.1-7 The ACMG Secondary Findings Working Group (SFWG) and Board of Directors (BODs) have agreed that the list of recommended genes should be updated annually and with an ongoing goal of maintaining this as a minimum list. Reporting of SFs should be considered neither a replacement for indication-based diagnostic clinical genetic testing nor a form of population screening.

This study used fine-mapping to analyze genetic regions associated with bipolar disorder, identifying specific risk genes and providing new insights into the biology of the condition that may guide future research and treatment approaches.

A new COVID variant called “Nimbus” is spreading. Here’s what you need to know about the incubation period, symptoms (including “razor blade throat”) and when to take a test.

The Affordable Care Act of 2010 requires private insurance to cover preventive benefits endorsed by the USPTF. The legitimacy of the USPS…

While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood. Here, we systematically analyze common and rare variants associated with each of 373 phenotypic traits within a large biological knowledge network of gene and protein interactions. While common and rare variants implicate few shared genes, they converge on shared molecular networks for more than 75% of traits. We demonstrate that the strength of this convergence is influenced by core factors such as trait heritability, gene mutational constraints, and tissue specificity. Using neuropsychiatric traits as examples, we show that common and rare variants impact shared functions across multiple levels of biological organization. These findings underscore the importance of integrating variants across the frequency spectrum and establish a foundation for network-based investigations of the genetics of diverse human diseases and phenotypes. ### Competing Interest Statement T.I. is a co-founder, member of the advisory board, and has an equity interest in Data4Cure and Serinus Biosciences. T.I. is a consultant for and has an equity interest in Ideaya Biosciences and Eikon Therapeutics. The terms of these arrangements have been reviewed and approved by the University of California, San Diego, in accordance with its conflict-of-interest policies. ### Funding Statement This work was supported by the following grants from the National Institutes of Health: NIMH U01 MH115747 to T.I., and NIDA P50 DA037844 to T.I. This work was also supported by the following grants from the California Institute for Regenerative Medicine: ReMIND DISC4-16322 and ReMIND DISC4-16377. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: All human data utilized in this study were openly available before the initiation of the study. Summary results from previously published genome wide association studies (GWAS) were sourced from the GWAS Catalog (https://www.ebi.ac.uk/gwas/api/search/downloads/alternative). Accession numbers for the studies used can be found in Supplemental Table 1. Summary results from previously published gene-level rare variant studies were sourced from the Rare Variant Association Repository (RAVAR, http://www.ravar.bio/api/download/static/gene_fulltable.txt). Publication identifiers (PMIDs) for the studies used can be found in Supplemental Table 1. I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes All data produced in the present work are contained in the manuscript <https://www.ebi.ac.uk/gwas/api/search/downloads/alternative> <http://www.ravar.bio/api/download/static/gene_fulltable.txt>