https://genome.news Genomics news, traced to the original source. en https://genome.news/story/myc-amplification-associated-with-pancreatic-tumor-subtype-and-immune--002eb6d3c490/ https://genome.news/story/myc-amplification-associated-with-pancreatic-tumor-subtype-and-immune--002eb6d3c490/ Mon, 12 Oct 2026 14:00:00 GMT A Nature Genetics study, DOI 10.1038/s41588-026-02779-5, examined pancreatic ductal adenocarcinoma, an aggressive cancer, cell by cell. Single-cell RNA sequencing measured gene activity cell by cell in 443,451 cells from 62 primary tumors, while spatial transcriptomics mapped gene activity across tissue in 53,236 spots from 11 tumors; tumors frequently contained genetically distinct cell groups. Extra copies of the cancer-related MYC gene region were recurrently associated with a shift from classical to basal-like gene activity, two tumor subtypes with different prognoses, and with weaker interferon and other immune-response programs. Laboratory experiments reducing MYC activity in mouse and primary human PDAC models reactivated classical gene activity and immune-response pathways. Source: https://www.nature.com/articles/s41588-026-02779-5 https://genome.news/story/micronuclear-extrachromosomal-dna-limits-tumor-cell-fitness-in-nature--a107bacca8f5/ https://genome.news/story/micronuclear-extrachromosomal-dna-limits-tumor-cell-fitness-in-nature--a107bacca8f5/ Sun, 11 Oct 2026 14:00:00 GMT In a Nature Genetics study using single-micronucleus sequencing and live-cell imaging of cancer cells alongside analyses of biopsies from patients with neuroblastoma, researchers investigated how extrachromosomal DNA (ecDNA) damage, mitotic segregation, and micronucleus formation are linked. The authors report that ecDNAs are a major source of micronuclei following their damage, particularly under replication stress, which promotes mitotic ecDNA clustering, asymmetric inheritance, mis-segregation into micronuclei, and reduced transcriptional output. Single-micronucleus sequencing revealed that multiple distinct ecDNA species coalesce within individual micronuclei, and cells inheriting ecDNA-positive micronuclei display impaired proliferative capacity and are more likely to undergo cell death. Source: https://www.nature.com/articles/s41588-026-02782-w https://genome.news/story/small-study-tests-goggle-assisted-gene-therapy-in-people-blind-from-re-45c618963002/ https://genome.news/story/small-study-tests-goggle-assisted-gene-therapy-in-people-blind-from-re-45c618963002/ Wed, 07 Oct 2026 21:00:01 GMT In a small open-label NEJM safety study, meaning everyone knew the treatment, 10 people blind from advanced retinitis pigmentosa, an inherited disease that destroys retinal cells, received therapy in the worse-seeing eye. A virus gave retinal nerve cells instructions for a light-sensitive protein; goggles activated it, with the untreated eye patched. Goggle-assisted light sensitivity rose 2.0- to 62.3-fold in 7; 6 achieved the study's meaningful threshold of about fourfold or more. Nine had 34 eye adverse events: 23 mild, 10 moderate and one severe central retinal artery blockage immediately after injection that medication resolved within minutes. GenSight funded it; authors called for more safety and efficacy research. Source: https://doi.org/10.1056/NEJMoa2602215 https://genome.news/story/bringing-back-the-american-chestnut-four-approaches-to-a-forest-giant--7569be154263/ https://genome.news/story/bringing-back-the-american-chestnut-four-approaches-to-a-forest-giant--7569be154263/ Wed, 07 Oct 2026 00:00:00 GMT Researchers are pursuing several routes to bring back the American chestnut: hybrid breeding, breeding from American survivors, gene engineering and viruses that weaken the blight fungus. Each tackles a different part of the problem, and each still faces tests before it can deliver lasting forest restoration. Source: https://tacf.org/major-new-tacf-paper-published-in-science/ https://genome.news/story/genome-accessibility-reveals-disease-risk-that-gene-expression-misses-b81164d43034/ https://genome.news/story/genome-accessibility-reveals-disease-risk-that-gene-expression-misses-b81164d43034/ Wed, 07 Oct 2026 00:00:00 GMT The effects of disease-associated genetic variants on gene expression and genome accessibility have been analysed together. The work is summarized from Kanai, M. et al., “Population-scale immune multiome atlas reveals regulatory disease mechanisms,” published in Nature in 2026. Source: https://doi.org/10.1038/s41586-026-11078-2 https://genome.news/story/african-dsi-databank-sets-out-federated-platform-for-genomic-and-biodi-b48d045c82f5/ https://genome.news/story/african-dsi-databank-sets-out-federated-platform-for-genomic-and-biodi-b48d045c82f5/ Tue, 06 Oct 2026 00:00:00 GMT A Comment in Nature Reviews Genetics describes the African DSI DataBank as a federated platform. African institutions use it to steward, govern and share digital sequence information on biodiversity and agriculture. They can host, manage and contribute genomic and other biomolecular data, and they keep local control and full custody. Source: https://www.nature.com/articles/s41576-026-01017-2 https://genome.news/story/genome-sequencing-finds-hereditary-cancer-variants-in-23-of-400-at-ris-810a35c0bca3/ https://genome.news/story/genome-sequencing-finds-hereditary-cancer-variants-in-23-of-400-at-ris-810a35c0bca3/ Mon, 05 Oct 2026 00:00:00 GMT Pathogenic or likely pathogenic variants turned up in 23% of 400 people at risk for hereditary cancer in Salvador, Bahia, according to a study in npj Genomic Medicine. Participants were recruited at a Reference Service for Rare Diseases and sequenced through the Brazilian Rare Genomes Project, using germline whole-genome sequencing. Most were female. A conclusive molecular diagnosis came in 19% of cases. The variants fell most often in BRCA1, BRCA2, MUTYH, NF1, ATM and TP53, and the team also found a deep intronic NF1 variant. Neither genetic ancestry nor self-identified race was associated with diagnostic yield. Source: https://www.nature.com/articles/s41525-026-00616-6 https://genome.news/story/avian-r2-retrotransposons-used-to-insert-dna-at-set-sites-in-human-cel-1ab78643d5c6/ https://genome.news/story/avian-r2-retrotransposons-used-to-insert-dna-at-set-sites-in-human-cel-1ab78643d5c6/ Sun, 04 Oct 2026 14:00:00 GMT Researchers searched 1,139 avian genomes and found 159 R2 retrotransposons, a Nature Biotechnology paper reports. They characterized conserved and nonconserved sequence features in the proteins and untranslated region elements. Engineered variants reached up to 60% site-specific gene integration across human primary cells. The sequencing data were submitted to the Genome Sequence Archive for Human under accession HRA013312. Source: https://www.nature.com/articles/s41587-026-03315-w https://genome.news/story/lung-cancer-trial-of-ccl21-dendritic-cell-vaccine-plus-pembrolizumab-s-3deb2a317901/ https://genome.news/story/lung-cancer-trial-of-ccl21-dendritic-cell-vaccine-plus-pembrolizumab-s-3deb2a317901/ Sat, 03 Oct 2026 14:00:00 GMT A phase I trial of a CCL21 gene-modified dendritic cell vaccine given with pembrolizumab in advanced non-small cell lung cancer produced no objective responses, the authors report in Nature Communications. Eleven patients were enrolled in dose escalation and 12 were treated in dose expansion. The combination was well tolerated. Stable disease was the best response in 36.8% of patients. Biopsies taken over time showed more CD4+ T cells and novel T cell clones in tumors, but many of those clones failed to persist. Source: https://www.nature.com/articles/s41467-026-78130-7 https://genome.news/story/four-people-with-adamts6-variants-point-to-a-new-connective-tissue-dis-82ca961b73e9/ https://genome.news/story/four-people-with-adamts6-variants-point-to-a-new-connective-tissue-dis-82ca961b73e9/ Sat, 03 Oct 2026 00:00:00 GMT Exome and genome sequencing of a French cohort with syndromic or isolated thoracic aortic disease turned up rare damaging ADAMTS6 variants in four unrelated people. The variants impaired ADAMTS6 secretion and catalytic activity, which disrupted processing of fibrillin-1 and fibrillin-2 and left microfibrils disorganized. Patient-derived fibroblasts and Adamts6-deficient mice showed parallel defects. Presentations ranged from early-onset multisystem disease, with cardiovascular, skeletal, craniofacial and neurodevelopmental abnormalities, to isolated adult-onset aortic aneurysm, the 2026 study reported. Source: https://doi.org/10.1016/j.gim.2026.102741 https://genome.news/story/urine-rna-test-detects-bladder-cancer-and-predicts-bcg-response-04061151f1ea/ https://genome.news/story/urine-rna-test-detects-bladder-cancer-and-predicts-bcg-response-04061151f1ea/ Fri, 02 Oct 2026 00:00:00 GMT A urine test called uRARE-seq picked up localized bladder cancer with 95% sensitivity at 90% specificity, according to a 2026 study of 683 urine samples from cancer patients and controls. The method reads cell-free RNA fragments. It outperformed urine tumor DNA analysis, and field-effect mutations did not affect it. It also detected minimal residual disease. In pretreatment urine from 114 patients, immune signatures in responders to Bacillus Calmette-Guérin set them apart from nonresponders. A biomarker built on that difference predicted response to BCG versus chemotherapy, with an area under the curve of 0.93. Source: https://doi.org/10.1038/s41591-026-04673-3 https://genome.news/story/new-chromatin-mapping-method-links-autoimmune-risk-variant-to-sesn3-ge-d925c8878398/ https://genome.news/story/new-chromatin-mapping-method-links-autoimmune-risk-variant-to-sesn3-ge-d925c8878398/ Fri, 02 Oct 2026 00:00:00 GMT The MCCv platform maps chromatin structure on single alleles, letting researchers pinpoint noncoding variants that influence disease genes. In a 2026 study led by Hamley and colleagues, the team examined 405 cis-regulatory elements associated with immune-mediated inflammatory disease in CD4 + T cells. They found a single variant that creates a neo-CTCF motif, which blocks super-enhancer contacts with the SESN3 promoter and heightens autoimmunity risk. SESN3 functions as a tryptophan sensor that regulates the mammalian target of rapamycin. Mouse experiments confirmed this role. Source: https://doi.org/10.1038/s41588-026-02776-8 https://genome.news/story/editing-silencer-elements-reactivates-embryonic-globin-in-thalassemia--25c3dc73980b/ https://genome.news/story/editing-silencer-elements-reactivates-embryonic-globin-in-thalassemia--25c3dc73980b/ Thu, 01 Oct 2026 00:00:00 GMT Patients with severe α‑thalassemia , hemoglobin H disease and Hb Bart’s hydrops fetalis syndrome , often need lifelong transfusions or stem‑cell transplants. Liu et al., writing in Nature Genetics, pinpointed cis‑regulatory elements that keep the embryonic ζ‑globin gene silent in definitive erythroid cells. Removing those silencing elements switched on ζ‑globin expression. In a mouse model of Hb Bart’s hydrops fetalis, the edit allowed embryos to survive to day 17.5, past the stage that would otherwise be lethal. When the same strategy was applied to primary erythroid cells taken from patients with both disorders, ζ‑globin reached levels higher than in the mouse, enough to supply therapeutic amounts of α‑like globin. Source: https://www.nature.com/articles/s41588-026-02770-0 https://genome.news/story/reactivating-embryonic-globin-rescues-mouse-model-of-severe-thalassemi-7ff1bd82404b/ https://genome.news/story/reactivating-embryonic-globin-rescues-mouse-model-of-severe-thalassemi-7ff1bd82404b/ Thu, 01 Oct 2026 00:00:00 GMT A 2026 study by Liu, Higgs and colleagues showed that gene editing reactivates the silenced embryonic ζ-globin gene and rescues a mouse model of severe α-thalassemia until late development. They first mapped the cis-regulatory elements that keep ζ-globin silent in definitive erythroid cells. In a Hb Bart's hydrops fetalis syndrome model, embryos survived to embryonic day E17.5, a stage normally fatal. Primary erythroid cells taken from patients with HbH disease and BHFS produced ζ-globin at levels higher than those seen in the mouse, reaching amounts described as therapeutic. Source: https://doi.org/10.1038/s41588-026-02770-0 https://genome.news/story/free-tests-and-direct-contact-raised-cascade-genetic-testing-among-rel-44802dc1ebb3/ https://genome.news/story/free-tests-and-direct-contact-raised-cascade-genetic-testing-among-rel-44802dc1ebb3/ Thu, 01 Oct 2026 00:00:00 GMT Of 194 patients with pathogenic variants, 28 consented and referred 97 relatives to a 2026 randomized feasibility trial of the CHARGE approach. Relatives in the intervention arm were contacted directly and told about a free testing window offered by laboratories. Relative-reported testing reached 53 percent (8 of 15) in that arm and 22 percent (2 of 9) under usual care. After adjustment, the odds of testing were higher with the intervention, at an odds ratio of 7.7 (p=0.04). Probands and relatives rated the study procedures as acceptable. Source: https://doi.org/10.1016/j.gim.2026.102721 https://genome.news/story/genetic-study-links-bach2-and-nrf2-to-fetal-haemoglobin-activation-29fd3643e926/ https://genome.news/story/genetic-study-links-bach2-and-nrf2-to-fetal-haemoglobin-activation-29fd3643e926/ Wed, 30 Sep 2026 00:00:00 GMT A multi-ancestry genome-wide association study of 28,279 people yielded 91 conditionally independent associations with fetal haemoglobin levels across 12 genomic regions, the authors report in Nature. The variant rs1010474-C lowers BACH2 expression. Inhibiting BACH2 directly also raised fetal haemoglobin expression, according to the paper, and loss of BACH2 let NRF2 occupy more chromatin at the gamma-globin genes. Selective edits to overlapping BACH2 and NRF2 motifs activated or repressed gamma-globin, independently of BCL11A. Source: https://www.nature.com/articles/s41586-026-11113-2 https://genome.news/story/genetic-study-implicates-bach2-nrf2-axis-in-fetal-haemoglobin-activati-1ec9e56b3620/ https://genome.news/story/genetic-study-implicates-bach2-nrf2-axis-in-fetal-haemoglobin-activati-1ec9e56b3620/ Wed, 30 Sep 2026 00:00:00 GMT A multi-ancestry study of 28,279 individuals identified 91 conditionally independent associations for fetal haemoglobin (HbF) levels across 12 genomic regions. In one previously uncharacterized region, the causal variant rs1010474-C reduces BACH2 expression and elevates HbF. Inhibiting BACH2 directly likewise increases HbF. Loss of BACH2 enhances NRF2 chromatin occupancy at the γ-globin genes, which encode HbF. Although their binding motifs overlap, selective editing can switch γ-globin on or off independently of BCL11A. Source: https://doi.org/10.1038/s41586-026-11113-2 https://genome.news/story/alternative-polyadenylation-mapped-across-2-million-cells-in-379-human-0c7b5840845c/ https://genome.news/story/alternative-polyadenylation-mapped-across-2-million-cells-in-379-human-0c7b5840845c/ Wed, 30 Sep 2026 00:00:00 GMT The study assembled a single‑cell atlas of alternative polyadenylation (APA) from 2 million cells taken from 379 postmortem aged human brains, both with and without Alzheimer's disease. Genes that show APA alterations in Alzheimer’s differ from those that change expression, yet many still point to shared pathways such as microglial activation. Whole‑genome sequencing linked APA variation to 3' UTR quantitative trait loci affecting 4,288 genes. When the authors examined 17 brain traits and diseases, they identified 168 GWAS loci that rely on these variants, of which only 17.5% overlap with eQTLs. SNCA appears among the implicated loci. Source: https://doi.org/10.1038/s41588-026-02758-w https://genome.news/story/werner-helicase-inhibitor-ro7589831-produces-partial-responses-in-7-of-fd0c3876fb7f/ https://genome.news/story/werner-helicase-inhibitor-ro7589831-produces-partial-responses-in-7-of-fd0c3876fb7f/ Mon, 28 Sep 2026 14:00:00 GMT RO7589831, a Werner syndrome helicase inhibitor, was given to 88 patients with advanced microsatellite instability solid tumors in a phase 1 trial reported in Nature Medicine. Seven of 66 efficacy-evaluable patients had confirmed partial responses, and the median response lasted 10.2+ months. Disease control rate was 74.2 percent. The trial did not identify a maximum tolerated dose. Three of 88 patients stopped treatment because of adverse events. Source: https://www.nature.com/articles/s41591-026-04657-3 https://genome.news/story/reanalysis-of-genome-data-doubles-rare-disease-diagnoses-for-welsh-pat-96c99e9243fa/ https://genome.news/story/reanalysis-of-genome-data-doubles-rare-disease-diagnoses-for-welsh-pat-96c99e9243fa/ Mon, 28 Sep 2026 00:00:00 GMT The Wales Genomic Medicine Centre enrolled 438 people from 154 families who had already had genetic testing with no diagnosis. First-pass sequencing solved 20.8 percent of families, 32 of 154. Reanalysis with updated variant prioritisation tools raised that to 42.2 percent, or 65 of 154, an improvement of 103 percent, according to the European Journal of Human Genetics paper. RNA analysis was used to clarify variants of uncertain significance in five genes. Source: https://www.nature.com/articles/s41431-026-02234-3 https://genome.news/story/individualized-reanalysis-diagnoses-40-percent-of-patients-left-undiag-471ea4d432d6/ https://genome.news/story/individualized-reanalysis-diagnoses-40-percent-of-patients-left-undiag-471ea4d432d6/ Mon, 28 Sep 2026 00:00:00 GMT At one Undiagnosed Diseases Network site, 77 of 192 patients with non-diagnostic exome or genome sequencing received 80 diagnoses in all. Research reanalysis of raw data from prior exomes and UDN genomes produced 54 percent of them. Most causal variants were coding, at 88 percent. The authors say 72 percent of genetic diagnoses should have come from the earlier exome. The prior laboratory had not prioritized novel gene variants (53 percent), or had passed over variants in known disorder genes because the phenotype looked like a mismatch (17 percent). Source: https://doi.org/10.1016/j.gim.2026.102736 https://genome.news/story/solid-state-mrna-vaccines-hold-100-bioactivity-at-37-c-in-animal-work-d9310d7c50b8/ https://genome.news/story/solid-state-mrna-vaccines-hold-100-bioactivity-at-37-c-in-animal-work-d9310d7c50b8/ Sun, 27 Sep 2026 14:00:00 GMT Solid-state mRNA vaccine formulations kept 100% bioactivity after more than 2 months at 37 °C, a Nature Biotechnology paper reports. The framework behind it, AGENT, couples high-throughput experiments with Bayesian optimization and finished in six iterations within 1 month. It stabilized two lipid nanoparticle types representative of Moderna (SM-102-based) and Pfizer-BioNTech (ALC-0315-based) compositions. In rodents and non-human primates, the vaccines induced antigen-specific immune responses non-inferior to freshly prepared soluble vaccines delivered intramuscularly. Source: https://www.nature.com/articles/s41587-026-03331-w https://genome.news/story/genetic-testing-panel-finds-cancer-predisposition-diagnoses-in-nearly--7fd66b19080c/ https://genome.news/story/genetic-testing-panel-finds-cancer-predisposition-diagnoses-in-nearly--7fd66b19080c/ Fri, 25 Sep 2026 00:00:00 GMT Doctors running an interdisciplinary cancer predisposition consultation model reviewed 144 pediatric patients in a retrospective cohort study published in the European Journal of Human Genetics. Ninety-nine of those patients had clinical features suggestive of a cancer predisposition syndrome, and 53 of them had cancer. The remaining 45 children showed no symptoms but were referred because of family history. Among the 50 symptomatic, undiagnosed patients who went on to genetic testing, 23 turned out to carry a disease-causing variant in a CPS gene, a yield of 46%. Predictive testing in the 32 asymptomatic children found the familial pathogenic variant in 14 of them, or 43.8%. Source: https://www.nature.com/articles/s41431-026-02244-1 https://genome.news/story/euchromatin-folds-into-dense-clumps-not-open-strands-study-finds-2d3c11586332/ https://genome.news/story/euchromatin-folds-into-dense-clumps-not-open-strands-study-finds-2d3c11586332/ Thu, 24 Sep 2026 14:00:00 GMT Euchromatin bunches into condensed domains rather than staying uniformly open, researchers report in Nature Genetics. The team built computer simulations that combined micro-C contact maps with imaging data from mouse embryonic stem cells and human cell lines. The resulting structures reached densities similar to heterochromatin domains, though the euchromatin domains stayed smaller. Kilobase-scale promoter and enhancer regions stuck out from these compact clumps, the authors found, and stayed accessible so they could bind proteins and communicate with each other. Source: https://www.nature.com/articles/s41588-026-02775-9 https://genome.news/story/admixture-mapping-turns-up-48-disease-links-that-gwas-missed-in-bioban-2e5ea0cc57bc/ https://genome.news/story/admixture-mapping-turns-up-48-disease-links-that-gwas-missed-in-bioban-2e5ea0cc57bc/ Thu, 24 Sep 2026 00:00:00 GMT In the BioMe biobank, a technique called admixture mapping turned up 77 disease signals across more than 800 clinical phenotypes, including 48 that genome-wide association studies missed. The findings, published in Nature Communications, came from 14,876 Hispanic or Latino participants and 8,819 African American participants, using computing resources at the Icahn School of Medicine at Mount Sinai. GWAS still caught more signals overall, and those signals carried higher odds ratios. Admixture mapping picked up variants with higher population differentiation instead. The two methods complemented each other. Source: https://www.nature.com/articles/s41467-026-76694-y https://genome.news/story/kdm2b-enzyme-found-essential-in-aggressive-medulloblastoma-subtypes-397a9cc16be9/ https://genome.news/story/kdm2b-enzyme-found-essential-in-aggressive-medulloblastoma-subtypes-397a9cc16be9/ Wed, 23 Sep 2026 14:00:00 GMT Researchers at St. Jude Children’s Research Hospital mapped chromatin states across medulloblastoma subgroups. They identified a bivalent enhancer signature concentrated at promoters of neurodevelopmental genes in Group 3 and Group 4 tumors, the aggressive forms of this childhood cerebellar cancer. KDM2B bound selectively at those enhancer regions. CRISPR knockout or acute protein degradation of KDM2B suppressed tumor growth in cell cultures and animal models. The protein appears to recruit Polycomb repressive complexes that block neuronal differentiation. The study was published in Nature Genetics. Source: https://www.nature.com/articles/s41588-026-02745-1 https://genome.news/story/studies-in-nature-map-prefrontal-cortex-cells-from-nearly-1-500-people-70ea89936df1/ https://genome.news/story/studies-in-nature-map-prefrontal-cortex-cells-from-nearly-1-500-people-70ea89936df1/ Wed, 23 Sep 2026 00:00:00 GMT Researchers have mapped gene expression across millions of individual brain cells from prefrontal cortex tissue donated by nearly 1,500 people, using single-nucleus RNA sequencing. The PsychAD Consortium built the atlas, described in three papers in Nature. It covers changes across the lifespan and in both health and disease. The authors say the resource offers molecular detail on a brain region that shapes personality and behaviours. Source: https://www.nature.com/articles/d41586-026-02770-4 https://genome.news/story/gene-regulatory-changes-shaped-human-skeleton-study-finds-18e058e83a21/ https://genome.news/story/gene-regulatory-changes-shaped-human-skeleton-study-finds-18e058e83a21/ Wed, 23 Sep 2026 00:00:00 GMT Yan et al. mapped genetic variants, genes and pathways that set the human skeleton apart from chimpanzees and bonobos, as well as gorillas. The work appeared in Nature in 2026 and highlights gene‑regulatory changes as the driver of human‑specific skeletal features. The authors note that variants in genes that encode extracellular‑matrix proteins may have enabled these adaptations. A companion Nature News and Views piece praised the comprehensive genomics toolkit used for the mapping. Source: https://www.nature.com/articles/d41586-026-02775-z https://genome.news/story/single-nucleus-prefrontal-cortex-atlas-links-genetic-risk-to-cell-type-4a5c1b176e47/ https://genome.news/story/single-nucleus-prefrontal-cortex-atlas-links-genetic-risk-to-cell-type-4a5c1b176e47/ Wed, 23 Sep 2026 00:00:00 GMT Single-nucleus data from the multi-ancestry PsychAD cohort tied genetic risk for complex brain disorders to discrete cell populations in the human prefrontal cortex, from neurons to glial and immune cells. Bulk tissue tests missed these associations entirely. Writing in Nature, the team built transcriptomic imputation models that turned up thousands of regulatory signals across major brain cell types. They then confirmed the findings with cross-ancestry analyses in the Million Veteran Program, which showed trait-related gene dysregulation stayed conserved across different ancestral backgrounds. Source: https://www.nature.com/articles/s41586-026-10836-6 https://genome.news/story/graph-neural-network-ties-single-cell-brain-data-to-alzheimer-s-diseas-80fa9c86eb52/ https://genome.news/story/graph-neural-network-ties-single-cell-brain-data-to-alzheimer-s-diseas-80fa9c86eb52/ Wed, 23 Sep 2026 00:00:00 GMT A graph neural network called PASCode sifted through single-cell data from 584 brain donors and flagged about 1.5 million cells linked to Alzheimer's disease traits, Nature Medicine reports. The tissue came from the prefrontal cortex, part of a dataset of more than 1,000 brains. Comparing 27 cell subclasses, researchers identified reactive astrocyte subtypes with altered neuroprotective and neurotoxic gene expression linked to cognitive resilience. Astrocytes tied to both Alzheimer's and depression showed inflammation and endoplasmic reticulum stress pathways. Source: https://www.nature.com/articles/s41591-025-04128-1 https://genome.news/story/human-gene-regulation-map-ties-cartilage-changes-to-joint-disease-risk-64927975ea95/ https://genome.news/story/human-gene-regulation-map-ties-cartilage-changes-to-joint-disease-risk-64927975ea95/ Wed, 23 Sep 2026 00:00:00 GMT Researchers tested 561,410 human-derived sequence substitutions in chondrocytes and found regulatory changes tied to human skeletal evolution, according to a paper in Nature. In human-ape hybrid cells, the team identified 15,077 loci with human-specific regulatory activity, many of which suppressed glycosaminoglycan biosynthesis in osteochondral progenitors. The shift left signatures of selection. Joint glycosaminoglycan content in humans came out roughly three-to-fourfold lower than in non-human apes. The authors write that the changes probably explain why humans are prone to degenerative skeletal disease. Source: https://www.nature.com/articles/s41586-026-11053-x https://genome.news/story/blood-test-maps-targetable-mutations-in-12-827-metastatic-breast-cance-8f981e516cac/ https://genome.news/story/blood-test-maps-targetable-mutations-in-12-827-metastatic-breast-cance-8f981e516cac/ Tue, 22 Sep 2026 00:00:00 GMT Researchers analyzed 15,564 plasma samples from 12,827 patients with metastatic breast cancer, sequencing the samples with Guardant360 and sorting them into subtypes with a trained random forest model, according to a paper in Nature Communications. Most patients carried variants tied to treatment resistance. The team found actionable alterations in PIK3CA, ESR1, PTEN, and AKT1 that differed from the primary tumors and pointed to separate resistant clones. The National Institutes of Health helped fund the work. Source: https://www.nature.com/articles/s41467-026-75976-9 https://genome.news/story/epigenetic-editing-silences-hepatitis-b-virus-in-liver-cells-and-mice-23f4bb9b0fbe/ https://genome.news/story/epigenetic-editing-silences-hepatitis-b-virus-in-liver-cells-and-mice-23f4bb9b0fbe/ Mon, 21 Sep 2026 00:00:00 GMT Chemical tags placed on the hepatitis B virus genome shut down its gene activity and stopped viral particle production, according to a paper in Nature Biomedical Engineering on 21 September. Teams at nChroma Bio in Boston and institutes in Milan tested the epigenetic editor in human liver cells and mice. Monkeys showed only minimal, temporary side effects. Current drugs often fail to eradicate the virus, which affects more than 250 million people. John Tavis, a molecular virologist at Saint Louis University, said the approach "is really where we need to go to end up being able to address this pandemic of HBV around the world". Source: https://www.nature.com/articles/d41586-026-02981-9 https://genome.news/story/exome-genome-sequencing-matched-microarray-for-copy-number-variant-det-a0ac31ded0d5/ https://genome.news/story/exome-genome-sequencing-matched-microarray-for-copy-number-variant-det-a0ac31ded0d5/ Mon, 21 Sep 2026 00:00:00 GMT More than 9,000 clinical cases went through both chromosomal microarray and exome or genome sequencing at a high-throughput clinical laboratory, and the sequencing matched or beat microarray performance for spotting copy number variants, a 2026 study found. Concordance between the two platforms topped 99 percent. Reviewers checked the cases where results diverged; microarray findings missed by sequencing were typically copy number variants, accounting for 41 percent of those discordant cases. Sequencing also picked up additional variant types, including small and large structural variants. Source: https://doi.org/10.1016/j.gim.2026.102727 https://genome.news/story/man-with-rare-motor-neuron-disease-improves-on-first-rna-drug-aimed-at-f59d17a26e9c/ https://genome.news/story/man-with-rare-motor-neuron-disease-improves-on-first-rna-drug-aimed-at-f59d17a26e9c/ Fri, 18 Sep 2026 00:00:00 GMT A man with an uncommon type of motor neuron disease saw his symptoms improve and kept working as a physician a year after becoming the first person to receive a drug designed to target his mutation. The antisense oligonucleotide therapy goes after RNA from the mutated gene and cuts how much protein is made. Results appear in Med this week. Steve Vucic, a neurologist at the University of Sydney in Australia, called it an "exciting first step" and said it needs testing in more people. Source: https://www.nature.com/articles/d41586-026-02945-z https://genome.news/story/fda-approves-first-gene-therapy-for-sanfilippo-syndrome-type-a-fde119c543c9/ https://genome.news/story/fda-approves-first-gene-therapy-for-sanfilippo-syndrome-type-a-fde119c543c9/ Thu, 17 Sep 2026 19:55:46 GMT The FDA approved Fayuvi, a gene‑therapy for Sanfilippo syndrome type A, on Thursday. Ultragenyx is the developer, according to STAT. The therapy is the first drug cleared for the ultra‑rare condition, also known as childhood Alzheimer's. Ultragenyx has not released a price. Cara O’Neill, chief science officer of the Cure Sanfilippo Foundation, said families receiving a diagnosis will now have a treatment plan and a source of hope. Source: https://www.statnews.com/2026/09/17/sanfilippo-syndrome-treatment-ultragenyx-approval/?utm_campaign=rss https://genome.news/story/eshg-and-ispd-issue-global-guidance-on-prenatal-genomic-sequencing-dd8a4295f2fc/ https://genome.news/story/eshg-and-ispd-issue-global-guidance-on-prenatal-genomic-sequencing-dd8a4295f2fc/ Wed, 16 Sep 2026 00:00:00 GMT The European Society of Human Genetics and the International Society for Prenatal Diagnosis issued joint global recommendations for diagnostic genomic sequencing in prenatal care, published in the European Journal of Human Genetics. The guidance covers fetuses with anomalies. According to the authors, the update responds to a rapid shift from capture-based testing toward genome sequencing, new long-read platforms, and more accurate fetal imaging since ISPD's 2022 statement, which had urged caution over testing eligibility and which findings to report. Source: https://www.nature.com/articles/s41431-026-02217-4 https://genome.news/story/gene-therapy-appears-safe-in-adolescents-with-hemophilia-b-70ec4f8b4f8a/ https://genome.news/story/gene-therapy-appears-safe-in-adolescents-with-hemophilia-b-70ec4f8b4f8a/ Wed, 16 Sep 2026 00:00:00 GMT Eleven adolescents, ages 12 to 18, received a single infusion of AAV gene therapy BBM-H901 at a dose of 5 × 10¹² vector genomes per kilogram in a phase‑1 trial across several Chinese centers. No dose‑limiting toxicity was observed during the 52‑week follow‑up. One participant showed elevated alanine aminotransferase (197.0 U L⁻¹) and aspartate aminotransferase (75.0 U L⁻¹); levels returned to normal after four weeks of immunosuppression. At week 52 the mean factor IX activity was 41.8 IU dL⁻¹ (SD 30.1), and the annualized bleeding rate fell from 13.9 to 0.5. The study is registered as NCT05709288. Source: https://doi.org/10.1038/s41591-026-04636-8 https://genome.news/story/aav-gene-therapy-lowers-bleeding-rate-in-adolescents-with-hemophilia-b-a4f5d60694ad/ https://genome.news/story/aav-gene-therapy-lowers-bleeding-rate-in-adolescents-with-hemophilia-b-a4f5d60694ad/ Tue, 15 Sep 2026 14:00:00 GMT Eleven adolescents with hemophilia B in China received the AAV gene therapy BBM-H901 in a phase 1 trial, Nature Medicine reports. None had dose-limiting toxicity. The most common side effects were rises in white blood cell counts and rash linked to corticosteroid use; one participant had a serious adverse event. Liver enzymes rose in one participant and returned to normal after 4 weeks of immunosuppressive therapy. After 52 weeks of follow-up, the mean annualized bleeding rate fell from 13.9 to 0.5, the researchers report. Source: https://www.nature.com/articles/s41591-026-04636-8 https://genome.news/story/fda-approves-breast-cancer-drug-tied-to-esr1-mutation-test-01ce1a6860d6/ https://genome.news/story/fda-approves-breast-cancer-drug-tied-to-esr1-mutation-test-01ce1a6860d6/ Tue, 15 Sep 2026 14:00:00 GMT The FDA has approved a breast cancer drug paired with a test that detects ESR1 mutations in circulating tumor DNA. The drug is one of a wave of new therapies aimed at overcoming resistance to estrogen-receptor-targeted treatments, according to a report by Harrison published in Nature Biotechnology in 2026. The paper describes the approval as part of a broader effort to address that resistance in breast cancer. Source: https://www.nature.com/articles/s41587-026-03333-8 https://genome.news/story/interferon-alpha-pushes-blood-stem-cells-down-two-opposing-paths-in-my-66db590d7018/ https://genome.news/story/interferon-alpha-pushes-blood-stem-cells-down-two-opposing-paths-in-my-66db590d7018/ Tue, 15 Sep 2026 00:00:00 GMT Lama C and colleagues tracked how interferon-alpha treatment reshaped blood cell development in patients with myeloproliferative neoplasms in 2026. The therapy pushed blood stem cells into two opposing states at once: one that expanded anti-inflammatory lymphoid progenitors, and one that produced inflammatory myeloid progenitors. The lymphoid expansion offset the myeloid bias typical of the disease, and blood counts normalized. Single-cell multiomics revealed that stem cells carrying CALR or JAK2 mutations resisted turning into inflammatory myeloid progenitors, which let the mutated clones hold onto their fitness advantage. Source: https://doi.org/10.1038/s41588-026-02751-3 https://genome.news/story/oral-kras-g12d-inhibitor-gfh375-shows-responses-in-pancreatic-cancer-1b850f015787/ https://genome.news/story/oral-kras-g12d-inhibitor-gfh375-shows-responses-in-pancreatic-cancer-1b850f015787/ Mon, 14 Sep 2026 14:00:00 GMT The oral KRAS G12D inhibitor GFH375 produced a confirmed objective response rate of 35.1% in pancreatic ductal adenocarcinoma, according to phase 1 results in Nature Medicine. Median response duration reached 5.6 months. The trial enrolled 74 heavily treated patients with KRAS G12D-mutant advanced solid tumors, including 43 with pancreatic ductal adenocarcinoma. Another 16 participants had non-small cell lung cancer, and 10 had colorectal cancer. Dose-escalation across 22 patients showed no dose-limiting toxicities, establishing a recommended phase 2 dose of 600 mg once daily. One patient died from treatment-related septic shock. Source: https://www.nature.com/articles/s41591-026-04559-4 https://genome.news/story/selective-kras-g12d-inhibitors-show-early-activity-in-advanced-cancers-2911a5fb4810/ https://genome.news/story/selective-kras-g12d-inhibitors-show-early-activity-in-advanced-cancers-2911a5fb4810/ Mon, 14 Sep 2026 14:00:00 GMT Selective KRAS G12D inhibitors showed encouraging activity in advanced cancers with G12D mutations across two early clinical studies, according to a commentary in Nature Medicine. The findings signal a transformative change for RAS-driven cancers. The commentary said the inhibitors could have potential applications across multiple tumor types and stages of disease. The underlying research by Riedl, J. M. et al. appeared in Cancer Cell, volume 44, pages 471 to 497 in 2026. Source: https://www.nature.com/articles/s41591-026-04610-4 https://genome.news/story/multiancestry-biobank-data-sharpens-polygenic-risk-scores-for-underrep-665996a6f4fd/ https://genome.news/story/multiancestry-biobank-data-sharpens-polygenic-risk-scores-for-underrep-665996a6f4fd/ Mon, 14 Sep 2026 00:00:00 GMT A study published in Nature Genetics found that polygenic risk scores trained on data from both the All of Us Research Program and the UK Biobank predict complex traits more accurately for underrepresented ancestry groups, though the combined approach was not always superior. Researchers built multiancestry scores for 32 traits and diseases using 245,388 whole-genome sequences from Version 7 of the All of Us data release. For less polygenic traits, All of Us-only training outperformed the larger meta-analyzed dataset in African ancestry participants, a pattern the authors attribute to ancestry-enriched genetic effects. Source: https://www.nature.com/articles/s41588-026-02734-4 https://genome.news/story/base-editor-repaired-embryo-lesions-without-indels-but-mrna-delivery-c-a6bfb23b22bf/ https://genome.news/story/base-editor-repaired-embryo-lesions-without-indels-but-mrna-delivery-c-a6bfb23b22bf/ Sat, 12 Sep 2026 16:00:01 GMT Delivering ABE8e-V106W as a protein at fertilization edited all PCSK9 alleles in human embryos and allowed development to the blastocyst stage, with no insertions or deletions detected. Researchers at Nucleus Genomics, Inc. also derived homozygous edited stem cell lines. Unlike Cas9-induced double-strand breaks, which are genotoxic and cause frequent aneuploidy and large deletions, base editor lesions at PCSK9 and HBG were repaired efficiently. That said, rare on-target chromosome breakage and chromosomal abnormalities did occur. Bystander and off-target editing was mosaic. Introducing the editor as mRNA caused frequent embryo arrest through guide-independent deaminase activity, a problem the authors say currently rules out clinical use in reproduction. Source: https://www.nature.com/articles/s41586-026-11118-x https://genome.news/story/nih-workshop-updates-guidance-on-returning-genomic-findings-to-researc-d3c41f133b89/ https://genome.news/story/nih-workshop-updates-guidance-on-returning-genomic-findings-to-researc-d3c41f133b89/ Fri, 11 Sep 2026 00:00:00 GMT A 2024 National Heart, Lung and Blood Institute workshop produced new recommendations for returning secondary genomic findings from observational cohort studies, published in Nature Genetics. The guidance covers polygenic risk scores, somatic mosaicism, and pharmacogenomic results, areas where prior recommendations were limited. It builds on a 2010 National Heart, Lung and Blood Institute Working Group framework and a 2014 Clinical Sequencing Exploratory Research/Electronic Medical Records and Genomics floor-and-ceiling model. The paper addresses four areas: an integrated ethical framework for observational cohorts, novel result types beyond monogenic variants, health equity and community engagement as structural prerequisites, and scalability challenges including technology-assisted disclosure. Source: https://www.nature.com/articles/s41588-026-02724-6 https://genome.news/story/rare-cnv-burden-tied-to-schizophrenia-risk-in-east-asians-cross-popula-3938ec915f63/ https://genome.news/story/rare-cnv-burden-tied-to-schizophrenia-risk-in-east-asians-cross-popula-3938ec915f63/ Fri, 11 Sep 2026 00:00:00 GMT A rare copy number variant study of schizophrenia in East Asian populations, covering 20,903 cases and 23,258 controls, found a significantly elevated genome-wide rare CNV burden in cases compared with controls. Cross-population comparisons showed CNV effects on schizophrenia risk were largely consistent between East Asian and European ancestry groups. Nine genome-wide-significant loci were identified in the East Asian sample alone. Meta-analysis with European data pushed that figure to 14 significant loci, eight of which reached genome-wide significance for the first time. The new rare CNVs associated with schizophrenia in East Asian populations also showed markedly higher carrier frequencies there than in European populations: 0.38 percent against 0.0017 percent. Source: https://doi.org/10.1038/s41588-026-02732-6 https://genome.news/story/rare-cnvs-linked-to-schizophrenia-risk-in-east-asian-cohorts-8e497be04fe7/ https://genome.news/story/rare-cnvs-linked-to-schizophrenia-risk-in-east-asian-cohorts-8e497be04fe7/ Thu, 10 Sep 2026 14:00:00 GMT The Nature Genetics paper analyzed 20,903 schizophrenia patients and 23,258 controls of East Asian ancestry. It observed a higher burden of rare copy number variants among the cases. The risk pattern was similar to that seen in European groups. In the East Asian cohort, nine loci reached genome‑wide significance; a meta‑analysis that added European data raised the total to 14 loci, including eight that were newly significant. Genes at these loci are less tolerant of loss‑of‑function mutations than genes at other CNV sites. The new variants are far more common in East Asian populations than in European ones, with carrier frequencies of 0.38% versus 0.0017%. Source: https://www.nature.com/articles/s41588-026-02732-6 https://genome.news/story/our-future-health-reports-baseline-data-on-1-9-million-uk-participants-ff3ad3a0c5bf/ https://genome.news/story/our-future-health-reports-baseline-data-on-1-9-million-uk-participants-ff3ad3a0c5bf/ Thu, 10 Sep 2026 00:00:00 GMT Our Future Health, a prospective study aiming to recruit 5 million UK adults, has enrolled more than 2.5 million participants so far. Baseline phenotypic data are now available for over 1.9 million of them. The data include self-reported health behaviors, geolocation, diagnoses, medication use, in- and outpatient visits, cancer registry entries, and cause of death. All minority ethnic groups except one and the most socioeconomically deprived groups were underrepresented. Prevalence of several major self-reported conditions was higher than national estimates, particularly for mental health conditions such as depression and anxiety. Medication use and cancer prevalence followed expected age-related gradients, with lower lung cancer rates than national data. The analysis was published in Nature on 10 September 2026. Source: https://doi.org/10.1038/s41591-026-04602-4 https://genome.news/story/new-model-uses-species-trees-to-predict-variant-effects-across-genomes-94b66d9bc9cb/ https://genome.news/story/new-model-uses-species-trees-to-predict-variant-effects-across-genomes-94b66d9bc9cb/ Wed, 09 Sep 2026 00:00:00 GMT A genomic language model called GPN-Star predicts the functional impact of genetic variants by using whole-genome alignments and species trees to model evolutionary relationships. The tool, described in Nature, was trained on vertebrate, mammal, and primate alignments. It outperformed existing methods at identifying pathogenic variants and prioritizing signals from genome-wide association studies. The model improved power in rare variant association testing and showed strong enrichment for complex trait heritability. Analyses across timescales revealed that modeling more recent evolution works better for some tasks, while deeper evolution helps others. The authors trained versions for mouse, chicken, fruit fly, C. elegans, and A. thaliana, demonstrating the framework works across species. Source: https://www.nature.com/articles/s41586-026-11005-5