https://genome.news Genomics news, traced to the original source. en https://genome.news/story/light-based-gene-therapy-partly-restores-sight-in-10-blind-people-45c618963002/ https://genome.news/story/light-based-gene-therapy-partly-restores-sight-in-10-blind-people-45c618963002/ Wed, 07 Oct 2026 21:00:01 GMT Optogenetic therapy, which switches nerve cells on and off with light, is safe and can partly restore sight in blind people, researchers say. The trial enrolled 10 people with advanced retinitis pigmentosa. In that group of genetic disorders, light-sensitive cells in the retina gradually fail, while ganglion cells, which send visual information to the brain, hold up longer. “What we can say for sure is that the concept of optogenetics is valid for vision restoration,” said Prof Botond Roska of the Institute of Molecular and Clinical Ophthalmology Basel. Source: https://www.theguardian.com/society/2026/oct/07/gene-therapy-can-partly-restore-sight-in-blind-people-researchers-reveal 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://www.nature.com/articles/d41586-026-03072-5 https://genome.news/story/rapid-genome-sequencing-cut-pediatric-cancer-turnaround-to-3-days-90b83344408d/ https://genome.news/story/rapid-genome-sequencing-cut-pediatric-cancer-turnaround-to-3-days-90b83344408d/ Tue, 06 Oct 2026 00:00:00 GMT Mean turnaround times for whole-genome sequencing in childhood cancer fell from 42 days to 3, according to a paper in Nature Communications. The study evaluated 54 children in England with suspected or confirmed malignancy. Rapid sequencing detected 147 of 155 clinically actionable variants, compared with 138 detected by standard testing. In a prospective subset of 35 patients, clinicians reported that the faster workflow helped 17 children by supporting faster access to targeted therapy and risk stratification or avoiding unnecessary investigations and treatment escalation. Source: https://www.nature.com/articles/s41467-026-77918-x 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/engineered-avian-r2-retrotransposons-enable-targeted-dna-integration-i-1ab78643d5c6/ https://genome.news/story/engineered-avian-r2-retrotransposons-enable-targeted-dna-integration-i-1ab78643d5c6/ Sun, 04 Oct 2026 14:00:00 GMT Researchers searched 1,139 avian genomes and identified 159 avian R2 retrotransposons, finding conserved and nonconserved features in their proteins and untranslated region elements. Engineered variants achieved up to 60% site-specific gene integration across human primary cells. The sequencing data were submitted to the Genome Sequence Archive for Human, a platform under the Beijing Institute of Genomics, Chinese Academy of Sciences. The accession number is HRA013312. Source: https://www.nature.com/articles/s41587-026-03315-w 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/urine-rna-test-flags-localized-bladder-cancer-at-95-sensitivity-d96eec3af9f1/ https://genome.news/story/urine-rna-test-flags-localized-bladder-cancer-at-95-sensitivity-d96eec3af9f1/ Thu, 01 Oct 2026 14:00:00 GMT Researchers describe uRARE-seq, a method that profiles cell-free RNA in urine, in Nature Medicine. They ran it on 683 urine samples from cancer patients and controls. For localized bladder cancer it reached 95% sensitivity at 90% specificity and outperformed urine tumor DNA analysis. It also detected minimal residual disease. In pretreatment urine from 114 patients, responders to intravesical Bacillus Calmette-Guérin showed T cell and other immune signatures, while nonresponders showed higher expression of proliferation-related genes, the authors reported. Source: https://www.nature.com/articles/s41591-026-04673-3 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/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/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/polygenic-scores-improved-prediction-most-for-metabolic-and-heart-dise-7be7ae5cb690/ https://genome.news/story/polygenic-scores-improved-prediction-most-for-metabolic-and-heart-dise-7be7ae5cb690/ Sun, 27 Sep 2026 00:00:00 GMT On 27 September 2026 a medRxiv preprint reported that polygenic risk scores most improved prediction for metabolic, cardiovascular, autoimmune and neurological diseases, while offering little benefit for genitourinary and respiratory conditions. Usoltsev et al. trained and tested models covering 150 diseases plus all‑cause mortality using data from 900,000 participants in the UK Biobank and FinnGen. The manuscript has not undergone peer review. For atherosclerotic cardiovascular disease, the genetic score increased the size of the clinically defined high‑risk group by 40 percent; the reclassified individuals experienced a 4.9‑fold higher incidence during follow‑up compared with those who remained low‑risk. Source: https://doi.org/10.64898/2026.09.25.26364029 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/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/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/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/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/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 https://genome.news/story/gpn-star-model-uses-evolutionary-trees-to-predict-genetic-variant-effe-6d905992f088/ https://genome.news/story/gpn-star-model-uses-evolutionary-trees-to-predict-genetic-variant-effe-6d905992f088/ Wed, 09 Sep 2026 00:00:00 GMT A genomic language model called GPN-Star uses species trees and whole-genome alignments to learn functional constraints directly from DNA. Built by C. Ye and colleagues, the phylogeny-aware architecture evaluates evolutionary timescales across vertebrates, mammals and primates. In tests, the model beat existing methods at prioritizing pathogenic variants and fine-mapped genome-wide association study variants while improving rare variant association testing. The authors also developed versions for Mus musculus, Gallus gallus, Drosophila melanogaster, Caenorhabditis elegans and Arabidopsis thaliana. Source: https://doi.org/10.1038/s41586-026-11005-5 https://genome.news/story/daily-vosoritide-injections-boosted-growth-in-hypochondroplasia-trial-34f31f8521c7/ https://genome.news/story/daily-vosoritide-injections-boosted-growth-in-hypochondroplasia-trial-34f31f8521c7/ Wed, 09 Sep 2026 00:00:00 GMT Eighty-one children with hypochondroplasia, aged 3 to less than 18 years, received either daily subcutaneous vosoritide or placebo for 52 weeks in a phase 3 trial. Growth velocity increased by a least squares mean of 1.95 cm per year in the vosoritide arm versus -0.39 cm per year with placebo. That translates to a difference of 2.33 cm per year (95% confidence interval, 1.85 to 2.82 cm per year; two-sided P less than 0.001), according to results published in 2026. BioMarin Pharmaceutical funded the study. Hypochondroplasia is caused by FGFR3 mutations and produces disproportionate short stature. Vosoritide is a C-type natriuretic peptide analogue already approved for achondroplasia. Source: https://doi.org/10.1056/evidoa2600257 https://genome.news/story/serum-proteomics-led-to-genetic-diagnoses-in-13-rare-disease-patients--32e136d484a3/ https://genome.news/story/serum-proteomics-led-to-genetic-diagnoses-in-13-rare-disease-patients--32e136d484a3/ Wed, 09 Sep 2026 00:00:00 GMT Researchers analyzed serum samples from 424 patients in the 100,000 Genomes Project who had no genetic diagnosis despite whole genome sequencing. They measured 1,463 proteins using the Olink Explore 1536 assay and looked for abnormally low protein levels, defined as a z-score below -2. Those outliers helped confirm genetic causes in 13 patients by resolving variants of uncertain significance or flagging genes for targeted reanalysis. Another 23 patients gained candidate variants through convergent evidence from low protein outliers and the Exomiser variant prioritization tool. Missense variants made up 52.5 percent of the prioritized variants, splice region changes 27.5 percent. The work appeared in Science Translational Medicine on 29 January 2025. Source: https://doi.org/10.1126/scitranslmed.aeb1331 https://genome.news/story/undiagnosed-diseases-network-diagnoses-379-participants-through-data-r-061272fdb4a8/ https://genome.news/story/undiagnosed-diseases-network-diagnoses-379-participants-through-data-r-061272fdb4a8/ Wed, 09 Sep 2026 00:00:00 GMT The Undiagnosed Diseases Network solved 379 of 1,713 cases between May 2017 and June 2023, reaching a 22.1 percent diagnostic rate. Reanalyzing sequencing data yielded the largest share of answers, with case matching serving as a supporting strategy in 25.6 percent of solved cases. In total, 235 diagnoses, or 59.9 percent, required research efforts outside standard clinical care. Over the study period, the proportion of participants with prior sequencing grew from 40.2 percent to 75.0 percent. Source: https://doi.org/10.1016/j.gim.2026.102718 https://genome.news/story/fda-draft-guidance-sets-framework-for-individualized-rare-disease-ther-8d9ed966fb10/ https://genome.news/story/fda-draft-guidance-sets-framework-for-individualized-rare-disease-ther-8d9ed966fb10/ Tue, 08 Sep 2026 14:00:00 GMT The US Food and Drug Administration published draft guidance in February 2026 establishing a plausible mechanism framework for individualized therapies that target rare genetic diseases. The framework is a genuine advance, but its five criteria are not equally tractable, and meeting them will require substantial groundwork for most rare disease programs. The commentary appeared in Nature Genetics. Source: https://www.nature.com/articles/s41588-026-02750-4 https://genome.news/story/deepmind-releases-atlas-of-9-billion-human-gene-mutations-fca2fb5fc841/ https://genome.news/story/deepmind-releases-atlas-of-9-billion-human-gene-mutations-fca2fb5fc841/ Tue, 08 Sep 2026 00:00:00 GMT Google DeepMind has released an atlas that charts the predicted effects of 9 billion possible single-letter DNA changes across the human genome. The AlphaGenome Atlas draws on predictions from the AlphaGenome AI model that DeepMind released last year. The resource is available for non-commercial use. It covers every possible mutation to the genome's roughly 3 billion DNA letters, including the 2 percent that encode proteins. Around 9,000 researchers have accessed the model's predictions since its release, according to Dhavi Hariharan, a DeepMind product manager. She said the automated programming interface required writing software code, which is a barrier for some biologists. Source: https://www.nature.com/articles/d41586-026-02835-4 https://genome.news/story/method-finds-unknown-hominin-dna-in-modern-genomes-without-ancient-ref-87784d323e0e/ https://genome.news/story/method-finds-unknown-hominin-dna-in-modern-genomes-without-ancient-ref-87784d323e0e/ Tue, 08 Sep 2026 00:00:00 GMT A computational method called TRACE detects archaic ancestry in living human genomes without requiring ancient DNA sequences, according to a study published in Science. The approach, developed by researchers including Priya Moorjani, builds ancestral recombination graphs from contemporary sequences in the 1000 Genomes Project. The analysis reconstructed known patterns of Neanderthal and Denisovan introgression across global populations. It also revealed ghost archaic ancestry in regions previously considered Homo sapiens-specific, challenging that designation. Oceanian genomes showed enrichment of super-archaic segments in regions linked to MHC immune function and vitamin D metabolism, suggesting an additional, indirect introgression event. Source: https://www.nature.com/articles/s41588-026-02759-9 https://genome.news/story/diploid-genome-benchmark-covers-99-4-of-hg002-genome-with-phased-haplo-6ac8996b17ca/ https://genome.news/story/diploid-genome-benchmark-covers-99-4-of-hg002-genome-with-phased-haplo-6ac8996b17ca/ Tue, 08 Sep 2026 00:00:00 GMT A diploid genome benchmark from the Telomere-to-Telomore Consortium covers 99.4% of the HG002 human genome with distinct maternal and paternal haplotypes, according to a paper published in Cell. The T2T-HG002v1.1 assembly achieves telomere-to-telomere continuity for all 46 chromosomes except the interiors of ribosomal DNA arrays. It captures variants in repetitive and duplicated genomic regions that reference-based methods previously missed. The benchmark compares sequence reads directly to the sample's reconstructed diploid assembly rather than calling variants against an external reference. Source: https://www.nature.com/articles/s41588-026-02761-1 https://genome.news/story/heritable-variant-sequences-within-telomeres-set-allele-specific-lengt-0ffd5495ff9c/ https://genome.news/story/heritable-variant-sequences-within-telomeres-set-allele-specific-lengt-0ffd5495ff9c/ Mon, 07 Sep 2026 00:00:00 GMT Telomere variant sequences dispersed along chromosome ends account for extreme length differences between paired chromosomes, according to a study published in Nature Communications. Researchers combined PacBio and Nanopore sequencing to map allele-specific telomere lengths in human blood samples and cultured cell lines. By tracing allele-specific telomeric sequences in family members across multiple generations, they showed that telomere variant sequences are heritable and underlie the extreme heterogeneity of telomere length between alleles. Continuous cell proliferation drives the slow but stochastic evolution of allele-specific telomere variant sequences. Targeted deletion of allele-specific telomere variant sequences using CRISPR-Cas9 reset telomere length, confirming their causal role in the control of allele-specific telomere maintenance. Source: https://www.nature.com/articles/s41467-026-77310-9 https://genome.news/story/review-examines-programmable-enzymes-for-large-dna-insertion-7b281ee3d8a3/ https://genome.news/story/review-examines-programmable-enzymes-for-large-dna-insertion-7b281ee3d8a3/ Mon, 07 Sep 2026 00:00:00 GMT A review in Nature Reviews Genetics examines recent advances in recombinases, retrotransposons and CRISPR-associated transposases for inserting kilobase-scale DNA sequences into genomes. Computational genome mining has accelerated discovery of enzymes with novel properties. Directed evolution and rational engineering are enabling optimization of these systems for genome modification. The ability to write entire genes or large regions into the genome could transform treatment of genetically heterogeneous disorders, where numerous pathogenic variants underlie a common disease. Source: https://www.nature.com/articles/s41576-026-01002-9 https://genome.news/story/multi-ancestry-study-links-236-ms-risk-variants-to-inhibitory-neurons-219f353bc102/ https://genome.news/story/multi-ancestry-study-links-236-ms-risk-variants-to-inhibitory-neurons-219f353bc102/ Mon, 07 Sep 2026 00:00:00 GMT Researchers analyzing 20,831 multiple sclerosis cases and 729,220 controls have identified 236 susceptibility variants outside the major histocompatibility complex. The multi-ancestry genome-wide study, published in Nature Genetics, found four novel genomic loci. By integrating single-cell data from blood and brain tissue, the team pinpointed 76 candidate causal genes. Inhibitory neurons emerged as a key target cell type. Seven loci, including STAT3, showed altered expression only in these cells. The STAT3 variant also correlated with cognition and white matter integrity in people without MS. Source: https://www.nature.com/articles/s41588-026-02731-7 https://genome.news/story/mexican-genome-project-sequences-1-481-individuals-to-map-regional-gen-cbe93804051e/ https://genome.news/story/mexican-genome-project-sequences-1-481-individuals-to-map-regional-gen-cbe93804051e/ Sat, 05 Sep 2026 00:00:00 GMT Researchers sequenced 1,481 whole genomes from Mexican volunteers under the oriGen Project, cataloging over 47.2 million single nucleotide variants and 8.1 million short indels. Nearly 3 million non-singleton short variants were absent from dbSNP and the Mexico City Prospective Study. Homozygous deletions in the RHD gene appeared in 3.1% of participants overall, but that rate fell to 0.6% among those with high Mexican-Indigenous American ancestry. Additionally, 10% of the volunteers carry a heterozygous loss-of-function variant in CYP2D6, an enzyme that metabolizes tamoxifen and painkillers. Source: https://www.nature.com/articles/s41467-026-77389-0 https://genome.news/story/meta-analysis-links-70-genetic-loci-to-hypertrophic-cardiomyopathy-ris-003143639f55/ https://genome.news/story/meta-analysis-links-70-genetic-loci-to-hypertrophic-cardiomyopathy-ris-003143639f55/ Fri, 04 Sep 2026 00:00:00 GMT A genome-wide association meta-analysis of 2,284 hypertrophic cardiomyopathy cases and 4,525 controls identified 70 unique genetic loci. Four had not been reported before: variants in MYPN, YWHAE, NOS1AP and OBSCN. The researchers built a polygenic risk score and tested it in 411,213 UK Biobank participants. The score predicted HCM diagnosis and correlated with greater left ventricular wall thickness in people without the disease. Among HCM patients who tested negative for single-gene variants, those in the top 20% of the polygenic risk distribution faced nearly triple the risk of sudden cardiac death (HR=2.72, 95% CI 1.03 to 7.17). Source: https://doi.org/10.1136/jmg-2026-111722 https://genome.news/story/genetic-variants-lowering-lipoprotein-a-and-ldl-cholesterol-together-c-0ac72335dbce/ https://genome.news/story/genetic-variants-lowering-lipoprotein-a-and-ldl-cholesterol-together-c-0ac72335dbce/ Thu, 03 Sep 2026 00:00:00 GMT People who carry loss-of-function variants in both LPA and PCSK9 had an odds ratio of 0.73 for coronary artery disease compared to noncarriers, Wang and colleagues report in Nature Cardiovascular Research. The study analyzed 408,039 UK Biobank participants. Carriers of either variant alone showed lower CAD risk than noncarriers, with odds ratios of 0.91 for LPA and 0.81 for PCSK9. Among statin users, lipoprotein(a) reduction was linearly associated with CAD risk. A phenome-wide association study found cardiometabolic benefits without detected adverse effects. The findings were replicated in 65,171 individuals from the Mass General Brigham Biobank. Source: https://www.nature.com/articles/s44161-026-00865-9