Plain-language summaries for patients and families with an interest in genetics. Educational only — not medical advice.
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Karl Deisseroth, Peter Hegemann, and Georg Nagel have been awarded the 2026 Nobel Prize in Physiology or Medicine for their discoveries of light-gated ion channels and the development of optogenetics.
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.
Cancer Research UK's PROSPECT study will follow a quarter of a million volunteers to investigate why bowel cancer diagnoses in under-50s are rising in the UK.
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 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 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.
Researchers have shown that the APOE4 genetic risk variant for Alzheimer's disease actively disrupts cerebrovascular function and protein-clearance systems, and some of these effects could be reversed experimentally.
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 preprint from Cold Spring Harbor Laboratory shows that loss of Tet2 and Tet3 in mouse immune cells consistently selects for trisomy 17, offering a mechanistic window into how epigenetic mutations may fuel blood cancers.
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.
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.
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 reporting 87,959 cases implicates 16 genes — including SETD1A, SCN2A, and SP4 — with consistent effects across ancestries and overlap with other neurodevelopmental conditions.
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.
A large-scale mapping of cat cancer genetics has identified molecular similarities with human cancers that researchers say could inform both veterinary oncology and the study of human tumour biology.
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 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.
A newly characterised population of cells that initiate but survive apoptosis acquires stress-resistance and contributes to tissue rebuilding, with potential implications for understanding how tumours return after treatment.
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 study reports that the essential amino acid leucine stabilises key mitochondrial proteins against degradation, revealing a previously unrecognised link between dietary amino acid availability and mitochondrial energy metabolism.
An experimental compound that disables a key antioxidant defence used by mesothelioma tumours has produced encouraging early-phase results, controlling disease progression in two-thirds of participants.
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.
A bioRxiv preprint presents evidence that some individuals express brain APOE transcripts that differ from their genomically encoded allele, raising questions about how APOE risk variants are expressed.
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 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.
Researchers have found that the three-dimensional folding of DNA is altered in several brain cell populations affected by Alzheimer's disease, changing how key genes are switched on and off.
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.
A large-scale single-cell study finds that between ages 50 and 75 the brain undergoes sweeping changes in immune cell composition and genome architecture that may underlie the rising risk of neurodegeneration.
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.
Researchers examining APOE isoform effects across diverse human populations report that the ε4 allele's associations with cholesterol biology and disease risk differ markedly depending on environmental context.
Zanvastro, an antisense oligonucleotide from Ionis Pharmaceuticals, has received FDA approval for Alexander disease — a rare, fatal neurological disorder with no previously approved therapy.
Researchers at UCLA report that off-the-shelf T cells made from cord blood stem cells controlled solid tumour growth in mice through two independent recognition mechanisms, while avoiding a key complication of donor-derived cell therapies.
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.
A study of long-lived bat species describes genetic adaptations combining enhanced immune defences with efficient removal of damaged cells, offering a comparative model for ageing research.
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.
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.
High-resolution tumour mapping has identified pockets of quiescent breast cancer cells surrounded by immune and connective tissue cells, offering a potential explanation for late cancer recurrence after treatment.
STAT News reports that two patients who had previously received gene-edited pig kidneys as a bridge measure have now received human donor organs, marking a milestone in clinical xenotransplantation.
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.
A large observational and genetic analysis of more than 270,000 individuals associates higher circulating tyrosine with reduced life expectancy in men, with no equivalent signal detected in women.
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 late-stage trial of mRNA-4157/V940 combined with pembrolizumab met its primary endpoint in advanced melanoma, according to data reported by Moderna and Merck.
A preprint from UK Biobank data introduces PGSC, a method that incorporates sex, age, and medication context into polygenic scores, outperforming standard additive models.
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.
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.
A mouse study finds both zero-calorie sweeteners changed gut bacteria, reduced beneficial metabolites, and shifted metabolic gene expression — with some effects detectable in offspring that never consumed them.
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.
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.
A random forest classifier integrating protein structural context, evolutionary conservation, and gene constraint offers calibrated PP3/BP4 thresholds for variant classification.
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.
The US Food and Drug Administration has licensed mFluSIva, Moderna's messenger RNA flu shot, marking the first regulatory approval of mRNA technology for influenza.
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 new study proposes that the intense transcriptional activity of cancer superenhancers inflicts recurrent DNA double-strand breaks, with imperfect repair generating the mutations that fuel tumour evolution.
A preprint integrating DNA methylation data across 20 solid cancers finds that epigenetic age acceleration is not uniform — some tumour types appear younger than matched normal tissue, others older.
A preprint from budding yeast identifies Yra2 as a regulator of ubiquitin-mediated proteolysis of the centromeric histone variant Cse4/CENP-A, with implications for understanding chromosomal instability in cancer.
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 PLOS Genetics study in C. elegans identifies how a conserved lysine-depleted region in the E3 ubiquitin ligase EEL-1/HUWE1 maintains protein-degradation capacity under stress.
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.
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.
Experimental CRISPR modifications improved immunotherapy responses in mouse models of prostate cancer, a tumour type that has historically resisted immune checkpoint approaches.
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.
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 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 study in insulin-producing cells finds that disrupting a key protein-folding helper allows damaged insulin to accumulate and lowers insulin secretion, pointing to a potential avenue for preserving beta-cell function.
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.
Applying evolutionary theory to oncology, researchers propose that rapidly alternating between multiple treatments — before resistance emerges — could improve cancer cure rates.
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.
Researchers from the Million Veteran Program and collaborating institutions publish a genomic-led framework in PLOS Genetics that uses genetic evidence to flag potential drug safety issues early in development.
Seven research laboratories will share ARPA-H funding aimed at accelerating individually tailored gene-editing therapies for patients with rare genetic conditions.
Researchers have identified claudin-4 as the entry receptor for a bacterially derived toxin associated with colorectal cancer, and designed a decoy protein that blocked it in a mouse model.
Specialists responding to early data on daraxonrasib, a KRAS inhibitor, describe it as a notable development in a disease where treatment options have changed little for decades.
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.
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 spontaneously tumour-prone gecko shares key oncogenic genetic changes with human cancers, offering researchers a rare naturally occurring animal model.
Integrative analysis across multiple CNS regions distinguishes molecular signatures of C9orf72-expansion ALS from non-C9orf72 cases, published in PLOS Genetics.
Reduced activity of the transcription factor GATA6 allows colorectal cancer cells to adopt a fetal-like, highly plastic state capable of seeding liver metastases — driven by epigenetic rather than mutational change.
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.
Researchers have described a molecular pathway by which physical activity preserves muscle function in older tissue, centred on suppression of the transcription factor DEAF1.
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.
A bioRxiv preprint describes an AAV-U7-SnRNA approach to skip exon 17 of the NF1 gene, with AAV-F capsid outperforming AAV-9 and AAV-B1 in biodistribution and exon-skipping efficiency in humanised mouse models.
A multi-site autopsy study published in PLOS Genetics uses genome-wide association to map genetic loci associated with the physical hallmarks of Alzheimer's disease and related dementias, rather than clinical diagnosis alone.
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.
Researchers examining post-mortem brain tissue from people with severe MS found that immune cells overloaded with lipid droplets appear to switch from repairing myelin to sustaining inflammation.
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.
Researchers have found that migrating neurons in the developing brain suffer severe DNA damage as they navigate tight spaces — and that an efficient repair mechanism corrects this damage almost immediately.
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.
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.
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.
A study of families with exceptional longevity has identified rare variants—including one that appears to temper chronic inflammation—that may help sustain health into later life.
Scientists at Baylor College of Medicine report that tubulin—the structural protein of cellular transport networks—can divert Tau and alpha-synuclein from forming the toxic clumps associated with Alzheimer's and Parkinson's disease.
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.
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.
A preprint from Cold Spring Harbor Laboratory describes a 'dish-to-biobank' framework that connects controlled glucolipotoxicity stress in stem-cell-derived beta cells to population-scale type 2 diabetes genetics via the plasma proteome.
Phase 3 results for Revolution Medicines' daraxonrasib show a 60% reduction in risk of death compared with standard chemotherapy, marking the first practice-changing advance for KRAS-mutant pancreatic cancer.
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.
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.
A study has identified heritable variants that appear to reduce responsiveness to GLP-1 receptor agonists in clinical trials, potentially explaining why a subset of patients fail to reach glycaemic targets.
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.
Daraxonrasib, a small molecule targeting KRAS, produced results described as practice-changing at ASCO 2026, offering a new approach to one of oncology's hardest tumours.
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 preprint from Cold Spring Harbor Laboratory describes a helper-dependent adenoviral vector approach targeting two genomic loci to overcome low homology-directed repair rates in CFTR replacement.
A large-scale mouse study has mapped epigenetic marks that violate classical inheritance rules, including what researchers describe as the first naturally occurring paramutation documented in a mammal.
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.
Early data from a Phase 1 study of VERVE-102, a base-editing therapy targeting PCSK9, show substantial LDL-cholesterol reductions at high doses, though the therapy remains at an early investigational stage.
A preprint from Cold Spring Harbor Laboratory reports that AAV-mediated delivery of the HGD gene to the liver normalised homogentisic acid accumulation in Hgd-deficient mice, pointing to a potential curative approach for this rare metabolic disorder.
Disabling the transcription factor NFIL3 in engineered CAR T cells prolonged their anti-tumour activity in mouse models, according to new research reported by ScienceDaily.
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 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.
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.
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.
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 study shows MYC protein recruits DNA-repair machinery at break sites, suggesting a mechanism by which tumours recover from chemotherapy and radiotherapy damage.
A preprint from Cold Spring Harbor Laboratory profiles nearly 2.7 million transcriptomes to characterise why some people living with HIV fail to recover immune function despite antiretroviral therapy.
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.
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.
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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