Genetic Current archive

May 2026

1. 2026-05-16 GPs · Genetic Counsellors · Patients & Families
   NHS England secures long-term access to two SMA therapies for children
   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.
2. 2026-05-16 Researchers · GPs · Oncologists
   Updated Cochrane review finds PSA screening reduces prostate cancer mortality
   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.
3. 2026-05-16 Preprint Researchers · Genetic Counsellors · Educators
   Preprint identifies SMCHD1 as a candidate target for gene-activation therapy in Prader-Willi syndrome
   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.
4. 2026-05-16 Researchers · Educators · Students
   Large-scale genomic study identifies previously unrecognised third ancestral lineage in Japan
   Analysis of thousands of Japanese genomes reveals evidence for a distinct ancestral component linked to the ancient Emishi people, challenging the long-held dual-origins model of Japanese population history.
5. 2026-05-16 Preprint Researchers · Genetic Counsellors · Educators
   Preprint reports long-term retinal preservation with AAV8-PEX1 gene therapy in Zellweger spectrum disorder mouse model
   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.
6. 2026-05-16 Preprint Researchers · Educators · Genealogists
   Oldest Caribbean genomes extend the genetic record of the region by over a millennium
   Genome-wide data from 19 individuals on Hispaniola, including four from the earliest pre-Ceramic Lithic Age occupation, reveal a single ancestry source for early Caribbean populations and affinities to Central and South America.
7. 2026-05-16 Preprint Researchers · Educators
   Preprint applies cross-trait polygenic scores to dissect Alzheimer's disease heterogeneity
   Researchers describe a polygenic score strategy that exploits pleiotropy to map genetic contributions to clinical and pathological variation within Alzheimer's disease across multiple cohorts.
8. 2026-05-16 Researchers · Educators
   PHG Foundation calls for governance reform after UK Biobank data exposure
   A commentary from the PHG Foundation argues that a recent UK Biobank data-exposure incident should inform the design of the forthcoming Health Data Research Service.
9. 2026-05-16 Researchers · Genetic Counsellors · GPs
   Australia legislates to ban genetic discrimination in life insurance
   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.
10. 2026-05-16 Researchers · Educators · Students
    Former NHGRI archivist argues Craig Venter tributes misrepresent the human genome race
    An opinion piece in STAT News contends that obituary coverage of Craig Venter has reduced a complex institutional history to a misleadingly simple rivalry narrative.
11. 2026-05-16 Researchers · Educators · Students
    University of Rochester team transfers naked mole-rat longevity gene into mice, extending lifespan
    Scientists at the University of Rochester report that transferring a gene responsible for high-molecular-weight hyaluronic acid production from naked mole rats into mice improved their health and extended lifespan in a laboratory model.
12. 2026-05-16 Researchers · Educators
    Large-scale evaluation characterises the 'colocalisation gap' between GWAS loci and eQTL datasets
    Researchers publishing in PLOS Genetics find that more than 40% of GWAS loci remain unexplained by eQTL colocalisation analyses, and identify study design factors that determine where the gap is largest.
13. 2026-05-16 Researchers · Educators
    PLOS Genetics study identifies substantial biases in two-sample Mendelian randomisation from instrument selection and sample overlap
    Researchers report that Winner's Curse, weak instrument bias, and sample overlap can induce substantial biases in standard two-sample Mendelian randomisation analyses using UK Biobank data.
14. 2026-05-16 Researchers · Genetic Counsellors · Educators
    Study identifies KAT6A as essential for developmental gene expression in neural stem cells
    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.
15. 2026-05-16 Genetic Counsellors · Researchers · Educators
    European Journal of Human Genetics paper sets out framework for harmonising genetic counsellor profession across Europe
    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.
16. 2026-05-16 Researchers · Educators · Students
    Nature Genetics review synthesises insights into human adaptation from ancient DNA
    A review article in Nature Genetics surveys how ancient genomic data have transformed understanding of which genetic variants were favoured by natural selection across human prehistory.
17. 2026-05-16 Researchers · Educators · Students
    Genomic analysis of African populations supports multiregional model of human origins
    Researchers studying genetic data from diverse African groups, including the Nama people, find evidence that modern humans evolved from multiple interconnected populations rather than a single ancestral source.
18. 2026-05-16 Researchers · Genetic Counsellors · Educators
    Australian study evaluates opportunistic genomic screening of healthy biobank participants
    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.