Implementation, communication, ethics, and family-history practice. For counsellors and genetic nurses keeping up with the wider conversation.
163 stories · Last updated
Stanford geneticist Euan Ashley argues that Claude completing a whole-genome analysis in under an hour for roughly $5 has outpaced the ethical and regulatory frameworks governing such outputs.
An FDA advisory committee has concluded that the benefits of Galleri, a circulating-tumour-DNA screening test covering multiple cancer types, outweigh its risks.
A 30-patient trial found that removing CD33 from donor haematopoietic stem cells allowed a CD33-directed cancer therapy to attack leukaemia whilst leaving the engrafted healthy cells intact.
A UK-first pilot across specialist centres in England aims to cut the time from biopsy to definitive brain tumour diagnosis from weeks to days using genomic profiling.
A yeast-complementation deep mutational scan of nearly all XPD amino acid substitutions separates ERCC2 variants that disrupt nucleotide excision repair from those that disrupt transcription, offering a functional framework for interpreting pathogenic variants in xeroderma pigmentosum and trichothiodystrophy.
A PLOS Genetics study systematically evaluates nearly 382,000 missense variants across 224 deafness genes, finding protein misfolding to be a common but under-recognised mechanism and offering a scalable approach to reclassifying variants of uncertain significance.
A large-scale single-cell genomics preprint spanning over 1.7 million cells from neurofibromatosis type 1 donors finds that somatic second-hit mutations in NF1 occur widely but are positively selected almost exclusively in oligodendrocytes and their precursors.
Four-year follow-up data for AMT-130 continue to show slowed disease progression compared with natural history, but the magnitude of benefit is smaller than reported at three years.
A preprint introduces SysNDD, an open-access expert-curated database representing gene-inheritance-disease associations for neurodevelopmental disorders with standardised confidence scoring and full curation history.
The first approved disease-modifying treatment for Sanfilippo syndrome type A — a severe paediatric neurological disorder — has received FDA authorisation, according to reports citing Ultragenyx Pharmaceutical.
A preprint describes a multiplexed assay that separates CASR gain-of-function from loss-of-function variants using single-cell transcriptional profiling, potentially improving classification accuracy for a gene with two opposing disease phenotypes.
A bioRxiv preprint identifies STARD9, a lysosomal cholesterol-sensing kinesin, as a causal gene for both autosomal dominant hypercholesterolaemia and reduced HDL with elevated triglycerides, depending on variant type.
Researchers have identified a very rare germline variant associated with substantially elevated lung cancer odds in people with no smoking history, pointing to a distinct hereditary aetiology in a clinically puzzling group.
A preprint reports the first in vivo model of Snurportin-1 deficiency, finding that zebrafish lacking SNUPN develop progressive muscle degeneration and myogenic progenitor loss consistent with a recently described form of LGMD.
Long-term follow-up data for UniQure's AMT-130 gene therapy indicate continued benefit in Huntington's disease, though the magnitude of effect has diminished over time — raising durability questions for patients and the field.
STAT News spoke with geneticist Mary-Claire King ahead of this year's Nobel announcements about her discovery of the BRCA1 locus and what waiting for the prize is like.
In a conversation with STAT News, geneticist Mary-Claire King discusses her landmark identification of the BRCA cancer mutations and what it is like to be a perennial Nobel contender.
A 54-year-old mystery in transfusion medicine is resolved as researchers pinpoint the gene responsible for the AnWj antigen, opening a route to safer matching for rare AnWj-negative patients.
Updated data from UniQure's AMT-130 programme show continued slowing of Huntington's disease progression four years post-treatment, though the magnitude of effect has diminished compared with earlier readouts.
A preprint describes a large-scale functional assay that tests 640 rare deep intronic variants in genes associated with recessive inherited retinal diseases, offering a route to resolve variants of uncertain significance that standard prediction tools miss.
A bioRxiv preprint presents evidence that C9orf72 alleles carrying more than 18 hexanucleotide repeats are unstable across generations and can expand toward the pathogenic range, offering a possible explanation for the high rate of apparently sporadic ALS and frontotemporal dementia.
The FDA has approved Scholar Rock's Isembyld for spinal muscular atrophy, the first therapy to address the muscle-wasting component of the disease when combined with an SMN2-targeting agent.
A bioRxiv preprint uses patient-derived induced pluripotent stem cell cardiomyocytes to characterise how a Leu92Phe variant in the LMNA gene — previously linked to lipodystrophy — impairs nuclear and sarcomeric function in dilated cardiomyopathy.
A bioRxiv preprint finds that sex modifies behavioural, molecular, and treatment outcomes in mice carrying an Adnp variant associated with Helsmoortel-Van der Aa syndrome, a rare neurodevelopmental condition caused by ADNP mutations.
A preclinical bioRxiv study reports that AAV-mediated replacement of KLHL40 — a gene whose loss causes one of the most lethal forms of nemaline myopathy — improved survival and skeletal muscle function in mice.
Analysis of local genetic correlations and cross-cancer polygenic risk scores reveals structured patterns of shared susceptibility at specific genomic regions, even where genome-wide sharing appears modest.
A PLOS Genetics study using GALT-deficient rats documents elevated galactose metabolites and downstream consequences in utero, suggesting that complications may begin before birth.
A study suggests that in severe genetic disorders associated with premature ageing, the cGAS immune-sensing pathway mistakes leaked nuclear DNA for viral infection, amplifying inflammation and impeding DNA repair.
NHS England has directed every trust to suspend staff and revoke system access immediately upon suspicion of improper access to patient medical records, formalising a zero-tolerance approach to data snooping.
A bioRxiv preprint reports that the larger and more ancestry-diverse gnomAD v4.1 database alters fulfilment of ACMG/AMP population-frequency criteria for variants across eight globin genes relevant to haemoglobinopathies.
Genomic analysis of a patient with multifocal cutaneous vascular tumours of undetermined classification has identified a heterozygous de novo germline variant in the ETS transcription factor GABPA.
Using a human iPSC model, researchers demonstrate that transcription initiated at the AS-SRO drives methylation of the PWS-SRO, illuminating how the Prader-Willi and Angelman syndrome imprinting centre is established.
A small pilot study reports that one year of ETI modulator therapy was associated with reduced epigenetic age acceleration in people with cystic fibrosis, with changes correlating with markers of inflammation.
A study finds that cisplatin and carboplatin leave mutational signatures in children's livers that accelerate cellular ageing and may raise long-term cancer risk.
A newly characterised communication system within primary cilia — the microscopic sensory projections on most cell types — may explain how certain genetic mutations produce congenital heart defects alongside abnormalities in the brain, kidneys, and skeleton.
A preprint from a congenic mouse study identifies an intragenic suppressor variant that converts a lethal SCN8A gain-of-function phenotype into graded outcomes, illuminating the narrow window for NaV1.6-targeted therapies.
A multigenerational family study reports that a missense variant in KCNA7, encoding a voltage-gated potassium channel, co-segregates with recurrent episodes of muscle weakness and low potassium.
The HARBOR trial of del-desiran for myotonic dystrophy type 1 did not meet its primary endpoint, dealing a second major setback to Novartis within days.
UniQure has filed its investigational gene therapy for Huntington's disease with the US Food and Drug Administration, marking a significant regulatory milestone for a condition with no current disease-modifying treatment.
Zanvastro, an antisense oligonucleotide from Ionis Pharmaceuticals, has received FDA approval for Alexander disease — a rare, fatal neurological disorder with no previously approved therapy.
An isogenic mouse allelic series resolves the distinct hippocampal gene-expression programmes driven by gain-of-function versus loss-of-function variants in SCN8A, a gene associated with severe childhood epilepsy.
Researchers report that utrophin — the protein being developed as a surrogate therapeutic target in Duchenne muscular dystrophy — is naturally upregulated in regenerating muscle fibres, creating a confound that may affect how trial outcomes are interpreted.
Sanger sequencing of 205 individuals with congenital heart disease identifies novel and recurrent IRX4 variants, with one variant also enriched in Down syndrome cases who have cardiac defects.
Revolution Medicines' Rasonque (RMC-6236) becomes the first FDA-approved therapy for advanced pancreatic cancer to work by attacking a genetic driver of the disease.
A medical student opinion piece in Stat News argues that the alcohol-flushing response common in people of East Asian ancestry reflects ALDH2 variant biology and that its health implications are under-communicated in clinical settings.
A Cancer Research UK-backed project at University College London is examining how germline genetic variation may influence how the body's immune system responds to smouldering myeloma, a precursor plasma-cell condition.
An experimental therapy from Ultragenyx failed to outperform a sham treatment in a late-stage trial for Angelman syndrome, a rare neurodevelopmental condition caused by loss of UBE3A function.
Stat News outlines what researchers and clinicians should expect from the forthcoming phase 1/2 readout of UniQure's AMT-130 gene therapy for Huntington's disease.
A new commentary from the PHG Foundation sets out why fragmented deployment infrastructure is a key barrier to realising the potential of disease risk prediction tools in general practice.
FDG-PET/CT imaging in people with Kleefstra syndrome and a Drosophila model both point to impaired glucose metabolism as a mechanism underlying the adolescent-onset developmental regression seen in this rare neurodevelopmental condition.
Researchers describe SNARE, an antisense oligonucleotide approach that selectively silences mutant rhodopsin transcripts regardless of the underlying pathogenic variant, using a common SNP as an allele discriminator.
A preprint from Cold Spring Harbor Laboratory characterises 'recombinant drive', a form of meiotic cheating in which chromatids carrying crossovers are preferentially transmitted through the egg in Drosophila and other animals including humans.
A new study finds that cisplatin and carboplatin treatment in children produces patterns of somatic mutation in liver cells that resemble those found in adult livers, raising questions about long-term cancer risk in survivors.
A preprint from UK Biobank data introduces PGSC, a method that incorporates sex, age, and medication context into polygenic scores, outperforming standard additive models.
The US Food and Drug Administration has approved Mimrylo (rusfertide), developed by Protagonist Therapeutics and Takeda, as a novel treatment for polycythaemia vera — a rare myeloproliferative neoplasm driven by JAK2 mutations.
Researchers publishing in PLOS Genetics have found that dopamine signalling may offer a therapeutic avenue for PIGA-CDG, a rare congenital disorder of glycosylation with few current treatment options.
A cross-species bioRxiv preprint finds that 70% of individuals with Kleefstra syndrome experience fragmented sleep, and links the EHMT1/G9a histone methyltransferase family to sleep maintenance through reactive oxygen species homeostasis.
Regeneron's antibody treatment for fibrodysplasia ossificans progressiva — an ultra-rare genetic disorder in which bone forms progressively in soft tissue — has received FDA approval under the brand name Pasatru.
A bioRxiv preprint identifies the GH–STAT5–IGF1 signalling axis as a mediator of skeletal and connective tissue overgrowth caused by gain-of-function PDGFRb mutations in Kosaki overgrowth syndrome.
Six patients with treatment-resistant rheumatoid arthritis showed dramatic reductions in disease activity after CAR T-cell treatment, with three reaching drug-free remission — though researchers stress that far larger trials are needed.
A new commentary from the PHG Foundation at the University of Cambridge argues that deploying disease risk prediction models in primary care requires overcoming organisational and workflow challenges that go well beyond model accuracy.
A preprint reports two novel deep-intronic variants in PCDH15 that disrupt splicing in Usher syndrome patients who had previously received no genetic diagnosis, and demonstrates antisense oligonucleotide rescue in a minigene model.
A CRISPR knock-in mouse carrying the R252Q substitution in LMX1B, corresponding to a human variant linked to renal-predominant disease, shows ocular and skeletal anomalies rather than the expected kidney phenotype — raising questions about tissue-specific variant effects.
Following the failure of Ultragenyx's experimental therapy in a pivotal trial, specialists say other investigational approaches for the rare neurodevelopmental condition remain active.
NHS England begins distributing home HPV self-sampling kits to women aged 30–65 who have not responded to cervical screening invitations, aiming to increase uptake.
Specialists in gene editing have questioned the study design and technical choices made by Huidagene Therapeutics in a Duchenne muscular dystrophy trial in which a patient died.
The US Food and Drug Administration has again paused a Regenxbio clinical trial for Hunter syndrome following new safety signals, underscoring ongoing challenges in adeno-associated virus gene therapy development.
A preprint demonstrates that the minor spliceosome snRNA U4atac controls cilium biogenesis in the developing zebrafish brain by regulating splicing of minor introns in two ciliary genes, connecting RNU4ATAC-associated syndromes to ciliopathy.
A random forest classifier integrating protein structural context, evolutionary conservation, and gene constraint offers calibrated PP3/BP4 thresholds for variant classification.
A PHG Foundation analysis sets out why the pathway for UK participation in the EU's cross-border health data framework is still legally and politically unclear.
A preprint describes an extended VAMP-seq approach that systematically measures the protein stability consequences of amino acid substitutions in zeta-globin, with a computational framework to predict effects across related paralogues.
A bioRxiv preprint describes a collection of characterised human cell lines bearing NF1 variants — including variants of uncertain significance — made freely available to the research community.
Research shows that haploinsufficiency of the transcription factor TBX5 unravels the three-dimensional chromatin architecture required for normal cardiac development, offering a mechanism for variable expressivity in congenital heart disease.
A bioRxiv preprint examines how heterozygosity or homozygosity for the MYBPC3 p.A31P variant shapes the severity and phenotype of hypertrophic cardiomyopathy in Maine Coon cats, reinforcing their value as a large-animal model for the human condition.
An FDA advisory committee is scheduled to weigh the evidence for Grail's Galleri blood-based multi-cancer detection test, a decision with broad implications for the emerging field of cell-free DNA screening.
A bioRxiv preprint argues that existing variant classification frameworks assign a single verdict regardless of inheritance state, and uses lipoprotein lipase variants as a proof-of-concept for context-aware interpretation.
A new PHG Foundation commentary examines how recent sequencing technology advances are reshaping expectations of what constitutes adequate genomic testing.
Skylark Bio has initiated a gene therapy trial targeting GJB2 mutations — one of the most common genetic causes of congenital deafness — as multiple companies pursue different mutation-specific approaches.
Aurora Therapeutics, which aimed to industrialise bespoke CRISPR gene-editing treatments modelled on the Baby KJ case, has abandoned its programme, citing regulatory demands that a small company could not meet.
A delayed report of a second fatality in an investigator-led gene-editing study in China has intensified international debate about oversight standards and trial transparency.
A bioRxiv preprint describes a frameshift knock-in mouse model of MFM13, a rare autosomal dominant myopathy, and tests trehalose as a candidate therapy targeting the chaperone-assisted autophagy pathway.
Replimune's oncolytic virus therapy RP1 has received FDA approval for advanced melanoma after two prior rejections, completing a prolonged regulatory journey reported by Stat News.
A new policy analysis from the PHG Foundation considers what an updated, polygenic-score-integrated BOADICEA model means for how familial breast-cancer risk should be assessed at a population level.
A study reports that blood cancers destined to worsen carry identifiable genomic changes long before clinical progression, potentially helping researchers distinguish pathological from age-related haematopoietic changes.
A major genome-wide study has expanded the known genetic architecture of hyperemesis gravidarum to ten risk genes, several of which implicate appetite and nausea regulation pathways.
A bioRxiv preprint identifies a transient window of extreme TCOF1 dosage-sensitivity in cranial neural crest cells, offering a mechanistic explanation for the tissue-specific effects of Treacher Collins syndrome.
A controlled mouse study published this week provides direct experimental evidence that germline genetic background influences both whether and how cancer develops after the same DNA-damaging event.
A new briefing from the PHG Foundation at the University of Cambridge outlines recommendations for EU and national governments seeking to embed genomics-informed prevention into health systems.
Multiple companies are pursuing CRISPR and gene-editing approaches for AATD, a rare inherited lung and liver disease, amid patent disputes, a start-up exodus, and US–China competitive tensions reported by Stat News.
The three institutions have announced a joint initiative to develop gene therapies targeting rare diseases, pooling expertise across genomics, clinical research, and model-organism biology.
A study finds that the longevity-associated APOE2 allele reduces DNA damage accumulation in brain cells and aids neuronal stress recovery, pointing towards a potential mechanistic target for Alzheimer's research.
A preprint describes an anticodon-edited tRNA that achieves up to 86% readthrough across 13 clinically relevant Arg-to-stop variants, offering a gene-agnostic strategy for a prevalent subclass of inherited retinal disease.
A bioRxiv preprint reports that damaging variants in the glutamate-rich domain of the cardiac splice regulator RBM20 are not corrected by gene replacement, suggesting they act via a different mechanism from the better-studied RS-domain variants.
A bioRxiv preprint integrating whole-genome sequencing, transcriptomic, and epigenomic data proposes that an overlooked non-coding regulatory signal may help explain why GBA1 coding variants substantially raise Parkinson's disease risk.
A patient advocate writing in Stat News argues that regulatory tools designed to accelerate rare-disease approvals are instead creating new barriers for limb girdle muscular dystrophy treatments.
Around 200 patients a year, including infants, will gain access to two newly approved treatments for histiocytic neoplasms after NHS England commissioning decisions.
A bioRxiv preprint identifies aberrant expression of the long non-coding RNA Hsrω-n as a contributor to neuronal toxicity in a Drosophila model of fragile X-associated tremor/ataxia syndrome.
A new theoretical framework published in PLOS Genetics uses age-specific penetrance data to improve on the standard 50% carrier-risk figure given to relatives of C9orf72 mutation carriers.
Seven research laboratories will share ARPA-H funding aimed at accelerating individually tailored gene-editing therapies for patients with rare genetic conditions.
A Stat News newsletter item notes a reported death in a gene-editing trial in China, adding further pressure on international oversight bodies days after a second child death was already covered by Genetic Current.
A bioRxiv preprint describes a zinc finger nuclease approach that inserts a functional rhodopsin gene copy regardless of which of nearly 100 pathogenic RHO variants a patient carries, aiming to circumvent the mutational heterogeneity that limits variant-specific therapies.
Screening of 1,562 Finnish extended families links heterozygous INTS6 variants to mild intellectual disability, implicating the Integrator complex phosphatase module in a neurodevelopmental disorder.
Roche has ended its gene-silencing efforts targeting Huntington's disease, a setback for a field that has seen several high-profile programme failures in recent years.
Preclinical research finds that combining telmisartan with olaparib boosts anticancer and immune effects, potentially broadening the PARP inhibitor's utility beyond BRCA1/2-related cancers, with human trials already under way.
A preprint from Cold Spring Harbor Laboratory describes a zebrafish system that uses functional surrogacy to model vascular Ehlers-Danlos syndrome and reclassify COL3A1 variants where pathogenicity is unclear.
A preprint reports that dizygotic twins in a consanguineous family carry both a novel EPS8 variant linked to hearing loss and an HPDL variant associated with neurodevelopmental disorder, illustrating how multilocus pathogenic variation can produce complex overlapping phenotypes.
Columbia University researchers report that a specific genetic variant may accelerate heart valve damage in people with degenerative mitral regurgitation who also take SSRI antidepressants.
A trainee-led bioRxiv preprint reports that exposure to the 2023 NASEM guidelines on population descriptors improves ethical awareness but does not eliminate fundamental misunderstandings about the relationship between race and ancestry.
The departure of Vijay Kumar from the FDA's Office of Therapeutic Products follows a broader leadership shakeup at the agency and raises questions about continuity in gene therapy oversight.
A new study reported by Cancer Research UK finds evidence that people under 55 are biologically ageing more rapidly than older cohorts, a trend researchers say may be connected to increasing rates of early-onset cancer.
Researchers have assessed the functional effects of missense variants of uncertain significance in the ECD1 region of ABCA4, which is implicated in Stargardt disease and other inherited retinal conditions.
Orca Bio has received FDA approval for a T-cell therapy designed to lower the risk of graft-versus-host disease in blood cancer patients undergoing haematopoietic stem cell transplantation.
Researchers have used base-editing and prime-editing tools in early human embryos to probe developmental gene function, achieving improved on-target precision while prompting renewed ethical scrutiny.
David Meek's acquisition of collapsed gene-therapy company Bluebird Bio has been rebranded as Genetix, with the new entity reporting early profitability in sickle cell and other programmes.
An opinion piece in STAT News marks the death of Joseph Fraumeni Jr., the NCI epidemiologist whose work with Frederick Li identified the hereditary cancer syndrome that bears their names.
The US Food and Drug Administration has reversed its earlier opposition, allowing UniQure to file its investigational RNA-interference treatment for Huntington's disease for regulatory review.
A preprint using structural modelling across more than one million genomes classifies over 600 ARID1B missense variants as damaging to protein interactions or stability, offering a resource for interpreting the large majority of variants that currently lack clinical classification.
The US Food and Drug Administration has reversed its earlier rejection and will re-examine Regenxbio's experimental gene therapy for Hunter syndrome, a rare and life-limiting childhood disorder.
Cancer Research UK reports that new data provide the strongest evidence to date that the UK HPV vaccination programme is reducing not only cervical cancer incidence but cervical cancer mortality.
Analysis of admixed Brazilian elderly cohorts finds deviations from expected APOE ε2 genotype frequencies, raising questions about whether its longevity-protective role generalises beyond European-ancestry populations.
The new gene-editing startup is targeting alpha-1 antitrypsin deficiency, a rare inherited lung and liver disease, following a reverse-merger and a licensing deal with a Chinese biotech company.
A preprint from Cold Spring Harbor Laboratory applies saturation genome editing to reclassify more than 9,000 variants of uncertain significance in two hereditary cancer genes.
A PLOS Genetics study from researchers at Children's National Hospital and the Stowers Institute provides the largest functional dataset to date for variants in ASS1, the gene disrupted in citrullinaemia type I, and reveals unexpected epistatic interactions between variants.
Back-to-back bioRxiv preprints use large clinical datasets and nasal airway cell measurements to examine how CFTR channel function relates to disease severity and to respiratory symptoms in carriers.
Michelle Sie Whitten of the Global Down Syndrome Foundation writes in STAT News that women receiving a prenatal Down syndrome diagnosis are routinely given outdated or incomplete information about life expectancy and quality of life.
Researchers report that somatic mutations associated with haematological malignancies could trigger neuroinflammation implicated in Alzheimer's disease, suggesting a previously unrecognised mechanistic overlap between the two conditions.
A STAT News opinion piece argues that recent technical progress in human embryo editing demands structured ethical debate before the science moves further ahead.
The world's first randomised trial of a multi-cancer early detection blood test did not meet its primary endpoint, though commentators argue the results carry important signals for the field of early-detection genomics.
A preprint reports that in vivo CRISPR editing targeting the mismatch repair gene Msh3 slowed somatic CAG repeat expansion and mitigated disease pathology in a Huntington's disease mouse model.
The UK National Screening Committee has endorsed a risk-stratified approach to prostate cancer screening, focusing on men who carry a BRCA2 pathogenic variant and have a relevant family history of cancer.
Researchers have identified a compound that blocks the DNA repair mechanism cancer cells exploit to survive treatment, potentially reversing resistance to PARP inhibitor therapies.
A preprint leveraging the gnomAD v4 dataset of over 730,000 exomes proposes improved methods for characterising elevated mutation rates and predicting the pathogenicity of rare coding variants.
The antibody-drug conjugate mirvetuximab soravtansine has been added to the NHS England treatment portfolio for platinum-resistant ovarian cancer — the first new approved option in this setting in more than two decades.
Researchers developed a probabilistic framework to assess how accurately polygenic predictions of observable traits could be used to re-identify an anonymised genome, finding the practical risk lower than some prior estimates suggested.
A preprint reports that 4% of Rwandan breast cancer cases in a 175-woman cohort carry a single recurrent BRCA1 frameshift variant tracing to a common ancestral haplotype of around 581 kb.
A preprint reports that base editors — which introduce single-letter DNA changes without cutting both DNA strands — avoided the aneuploidy and large deletions seen with standard CRISPR-Cas9 in early human embryos.
Analysis of polr3a mutant zebrafish shows that loss of this Pol III subunit specifically impairs neural crest cell-derived craniofacial structures, clarifying how POLR3-related disease variants cause tissue-specific developmental defects.
A bioRxiv preprint from 2026 proposes that astrocytes — not only neurons — may contribute to the pathophysiology of CDKL5 Deficiency Disorder, a rare developmental epileptic encephalopathy.
A STAT News commentary argues that the bottleneck for transformative gene therapies is no longer biological but financial, calling for structural reform in how payers and health systems fund one-time curative treatments.
Researchers have posted a preprint describing MAGI, a computational method that uses genomic foundation models to generate mechanistic annotations of genetic variants — aiming to move beyond binary pathogenicity labels towards interpretable biological explanations.
Researchers studying the Mediator Kinase Module find that heterozygous MED13L variants consistently produce aberrant cyclin C localisation and mitochondrial dysfunction across multiple patient-derived cell models.
A University of California San Francisco team has applied to the FDA for permission to run a small first-in-human trial of gene therapy delivered before birth for a rare lysosomal storage disorder.
New NHS England data show that mobile scanning units deployed at supermarkets, sports stadiums and high streets have detected 10,678 lung cancers, more than three-quarters at stages one or two.
The D4Z4caster assay uses targeted bisulfite sequencing of the D4Z4 repeat array to stratify individuals who may carry the epigenetic hallmarks of facioscapulohumeral muscular dystrophy.
A Cancer Research UK commentary argues that structural and funding barriers are slowing the translation of population-level genetic and lifestyle risk data into cancer prevention strategies.
A new Cancer Research UK analysis argues that targeting the earliest detectable cancer-driving changes in high-risk individuals could prevent more cancers, but requires coordinated policy support to reach its potential.
Cancer Research UK analysis shows melanoma incidence has reached its highest recorded level in the UK, raising questions about prevention, surveillance, and the role of genetic risk factors.
A bioRxiv preprint reports exploratory and confirmatory factor analysis of the EAGL measure in 2,708 US participants, introducing a knowledge comprehension subscale alongside standard subjective and objective knowledge components.
Nusinersen and risdiplam will be routinely available on the NHS in England following an evidence-collection access scheme, giving families with spinal muscular atrophy long-term certainty.
A commentary in Nature Human Behaviour challenges widespread framing of polygenic risk scores as fixed biological traits, with implications for research communication and public understanding.
Additional reporting and commentary from ASCO 2026 consolidates the picture around Revolution Medicines' daraxonrasib, with coverage noting that demand from patients is already outpacing access to the investigational drug.
A new systematic review published in 2026 concludes that prostate-specific antigen blood testing likely reduces the risk of death from prostate cancer, though over-diagnosis and over-treatment remain concerns.
A PHG Foundation analysis highlights how genetic variants affecting red blood cell biology can cause HbA1c to misclassify diabetes risk, with disproportionate impact across ancestry groups.
A bioRxiv preprint describes a homozygous missense variant in MGME1 — a nuclear-encoded gene essential for mitochondrial DNA maintenance — identified in five affected individuals from unrelated South Indian families presenting with multi-systemic mitochondrial disease.
A bioRxiv preprint reports that inhibiting the epigenetic regulator SMCHD1 can reactivate silenced maternal copies of genes in the Prader-Willi syndrome imprinted locus in cellular and animal models.
A bioRxiv preprint describes sustained preservation of retinal integrity and function following AAV8-delivered PEX1 gene therapy in a murine model of Zellweger spectrum disorder.
A five-laboratory evaluation published as a preprint on bioRxiv finds that an amplification-based Oxford Nanopore workflow can reliably detect clinically relevant variants in genes with architectures that challenge short-read methods.
A paper in Nature Medicine reports that Australia has passed legislation preventing life insurers from using genetic test results to discriminate against applicants — a significant regulatory development with implications for genetic testing uptake.
Case reports published in Communications Medicine describe clinical use of the MEK inhibitor trametinib in two patients with multiple non-ossifying fibromas attributed to somatic mosaic KRAS mutations.
Researchers report that the histone acetyltransferase KAT6A is required for normal expression of developmental control genes in neural stem and progenitor cells, with implications for understanding Arboleda-Tham syndrome.
A paper published in the European Journal of Human Genetics examines variation in the training, registration, and scope of practice of genetic counsellors across European countries and proposes steps towards harmonisation.
An author correction has been issued for the Nature Genetics paper identifying biallelic RNU4-2 variants as a cause of a recessive neurodevelopmental syndrome with distinct white matter changes.
Researchers report findings from opportunistic screening of healthy controls in an Australian biobank, examining the yield and implications of returning genomic results outside a clinical referral pathway.
About Genetic Current
Genetic Current is the news section of Evagene, an academic, research, and educational pedigree-modelling platform. Stories are AI-drafted summaries of items from trusted public sources, written for researchers, clinicians, educators, students, genealogists, and patients with an interest in genetics. Summaries are for educational and research purposes only and are not medical advice.
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