Genetics & Genomics

Whole-exome sequencing in people with prior concussion found an enriched burden of selected rare, likely damaging variants in ion-channel genes versus gnomAD controls; the observational genetic association requires replication and functional study.

A conceptual ethics essay argues that public-domain human genomic resources are too limited and unevenly composed for several contemporary translational uses.

A post hoc SURPASS-3 MRI substudy analysis found reductions in liver fat and cardiometabolic measures with tirzepatide across PNPLA3 I148M genotype subgroups, while exploratory limitations constrain genotype-treatment conclusions.

A family-based genetic study reported germline candidate variants in RAD50, MSH4, STAT6, and PRKAR1A among Palestinian families with suspected hereditary breast cancer that were negative on BRCA1/2 testing. [pmid:42388729]

A reanalysis of a sorghum genotyping-by-sequencing dataset found broadly similar trinucleotide spectra after proton-beam and gamma-ray mutagenesis, while proton-treated lines showed more spatially concentrated detectable SNV events within GBS-callable sequence space.

A brief ethics-session report uses a fictionalised newborn scenario to examine incidental ataxia–telangiectasia detection during TREC-based SCID screening and the limits of a genomic-first replacement. pmid:42346732

A candidate-variant study in Filipino mothers linked one SMAD3 variant and a weighted genetic risk score with self-reported asthma, while underscoring the limits of a small, selected-variant analysis.

SALSA-SGC is an Australian longitudinal ALS/MND research resource that links clinical information, biospecimens, and genetic data under governed researcher access.

A small prospective cohort found that trough-based and AUC24/MIC-based vancomycin classifications often differed, while rs2789047 A-allele carriage was associated with higher trough concentrations and reduced elimination rates.

A research explainer on validation of computational missense-variant prediction scores across five cancer predisposition genes.

A preclinical study tested liver-targeted lentiviral delivery of VPS33B in cell and mouse models of ARC syndrome, reporting disease-feature rescue and a vector-design safety difference that remains unproven in humans.

A seven-method comparison in early-stage, treatment-naive triple-negative breast cancer found broad agreement in homologous recombination deficiency classification, but also platform-specific disagreement linked to technical processing and molecular subtype context.

A selected study of 134 suspected hereditary breast and ovarian cancer cases used genomic, transcriptomic, structural-variant, and mobile-element analyses to identify additional candidate findings and assess PRS306 risk reclassification.

A retrospective sequencing and functional study links rare functional FBN2 variants with susceptibility to type 1b spontaneous spinal CSF leaks, while leaving the size and clinical role of that contribution unresolved.

A 2026 mouse study compared several purportedly oocyte-specific Cre drivers and found substantial somatic reporter activity in multiple alternatives, while the Knowles Zp3-Cre line remained the most restricted option among the lines tested but carried an Mt1-expression caveat.

A current ethics paper examines how a Parfitian prioritarian framework might inform decisions about funding expensive gene therapies for severe genetic disease.

A preclinical study identifies HIF-1-driven glucose transport through GLUT1 and GLUT3 as a selective vulnerability in JAK2V617F-positive myeloproliferative neoplasm models, while showing that pharmacologic inhibition did not improve core disease features in mice.

A UK Biobank genetic analysis examined whether prior non-affective psychosis or depression among dementia cases was associated with Alzheimer’s disease polygenic liability, while testing explanations based on prodromal dementia and shared psychiatric genetic liability.

A mechanistic virtual-tumor model links NSCLC adenocarcinoma genotypes to simulated responses to drug and radiotherapy combinations, offering a way to prioritize hypotheses for experimental testing.

Two 2026 studies show that genomic information is being integrated into complex pathology and oncology workflows, while interpretation and implementation remain setting-dependent.

Three case-based studies show how whole-genome sequencing, RNA analysis, and targeted PCR can resolve PHEX variants that exon-focused testing or routine variant calls missed.

Two sequencing studies found very different proportions and spectra of familial-hypercholesterolemia variants because they examined fundamentally different populations. Their convergence on LDLR and divergence in yield show why ascertainment and panel design must travel with any genomic screening number.

Three studies connect genetic susceptibility to metabolic liver disease with fatty-acid uptake, mitochondrial maintenance, and lipid oxidation, but the mechanistic evidence remains preclinical.

Two studies of previously unsolved rare-disease families found that systematic reinterpretation produced new diagnoses, while a small long-read study found no diagnostic variants that short-read data could not recover.

Two recent studies in diverse U.S. cohorts show that polygenic scores can add risk information for dementia and coronary heart disease, but their value depends on the outcome, comparator, ancestry representation, and clinical variables already in the model.

Two recent studies connect restored GCase activity with lower Gaucher disease burden, one in patient-derived midbrain organoids and one in a first human lentiviral gene-therapy case.

A single infusion of an AAV8 vector carrying a factor IX gene raised clotting-factor levels in men with severe hemophilia B, an early proof of durable gene transfer.

A phase 3 trial of voretigene neparvovec delivered a working RPE65 gene into the retina, improving functional vision in people with an inherited blinding disease.

A landmark trial used CRISPR-Cas9 to reactivate fetal hemoglobin in patients' own blood stem cells, freeing a sickle cell and a beta-thalassemia patient from crises and transfusions — and hinting at a pattern reused across blood disorders.

A single-dose gene-replacement therapy delivered a working SMN1 gene to infants with spinal muscular atrophy, improving survival and motor milestones.