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Genetic and cellular mechanisms underlying steatotic liver disease

Steatotic liver disease (SLD), mainly encompassing metabolic dysfunction-associated steatotic liver disease (MASLD), alcohol-related liver disease (ALD), and metabolic dysfunction and ALD (MetALD), has emerged as the dominant cause of chronic liver disease worldwide, displacing viral hepatitis as the primary aetiology.

10 Nov 2025

Alzheimer’s breakthrough reveals how tweaking one gene shields brain connections

Lowering the transcription factor PU.1 reprograms microglia into a neuroprotective, lymphoid-like state that compacts amyloid, blocks tau spread, and preserves synapses in Alzheimer’s disease. Microglial CD28 signaling helps restrain inflammation, revealing a regulatory switch that may inform future immunotherapies targeting microglia rather than neurons.

6 Nov 2025

Proimmune Ltd introduces Prove® SL Self-Loading MHC Class I Monomers to improve T cell research flexibility

ProImmune Ltd, a global leader in life science reagents and services, today announced the launch of its new ProVE® SL Self-Loading MHC Class I Monomers.

31 Oct 2025

Nuclear binding protein identified as key contributor to trisomy 21-related CHDs

Three copies of chromosome 21 causes Down syndrome (DS), and roughly half of children born each year in the United States with DS-approximately 2,600-also have congenital heart defects (CHDs).

22 Oct 2025

Genetic inflammatory signature defines depression subtypes and treatment response

Researchers led by Prof. Alessandro Serretti at Kore University of Enna have identified a genetic inflammatory signature that defines specific depression subtypes and influences how patients respond to antidepressant medications, according to new peer-reviewed research published today in Genomic Psychiatry.

21 Oct 2025

Researchers develop a powerful new tool to sharpen the accuracy of genetic testing

Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the accuracy of genetic testing – a breakthrough with direct implications for patient diagnoses and care worldwide.

6 Oct 2025

Study identifies hundreds of genes, including novel ones, governing blood molecule levels

A new study, published today in Nature Genetics, created the largest genetic map of human metabolism, revealing new insights on the role of metabolites in health and disease and creating a blueprint for further research.

3 Oct 2025

Genetic risk scores fail to predict survival after diagnosis

Research indicates that disease susceptibility genetics poorly predict survival, while longevity PGSs offer stronger associations with post-diagnosis mortality.

2 Oct 2025

Calcium-induced release identified as key driver of dangerous muscle disorders

Researchers engineered mice with a mutation (E3896A) in the RyR1 calcium-binding site, eliminating calcium-induced calcium release (CICR) without affecting depolarization-induced calcium release.

25 Sep 2025

Study explains how genetics and lifestyle combined to keep a 117-year-old healthy

Scientists conducted a multiomics study of the world’s oldest verified person (117 years), uncovering protective genetic, immune, metabolic, microbiome, and epigenetic traits that supported her exceptional longevity. These findings highlight how aging and disease may, under rare circumstances, be decoupled.

25 Sep 2025

Two-step blood and scan strategy delivers near-perfect accuracy for early Alzheimer's signs

Plasma p-tau217 testing can help detect preclinical Alzheimer disease in cognitively unimpaired adults. Using it as a first-line screen followed by positron emission tomography or cerebrospinal fluid testing boosts accuracy, reduces false positives, and streamlines recruitment.

16 Sep 2025

Genetic study shows dual GIPR/GLP1R action curbs binge alcohol use

Researchers used drug-target Mendelian randomization to test whether genetically proxied activation of GLP1R and GIPR influences alcohol-related behaviors. They found that GIPR, especially when combined with GLP1R, was linked to lower binge and heavy drinking, healthier food preferences, improved liver markers, and reduced coronary artery disease risk.

15 Sep 2025

Genetic variant disrupts brain’s cleanup crew increasing Alzheimer’s risk

A Nature study published today and led by researchers at the University of South Florida's USF Health Byrd Alzheimer's Institute pinpoints how a genetic variant disrupts microglia - the brain's "cleanup crew" - increasing the risk of Alzheimer's disease.

3 Sep 2025

New mouse models reveal mechanisms of RP59 retinal degeneration

Retinitis pigmentosa retinal degeneration is caused by a family of hereditary mutations in nearly 100 genes that slowly lead to blindness over years or decades.

29 Aug 2025

Genetic variants influencing vitamin D synthesis, metabolism, and transport

A Canadian review synthesizes genetic factors that influence vitamin D synthesis, metabolism, and transport, highlighting how polymorphisms affect circulating levels. It also explores how gene-environment interactions shape individual responses to supplementation and sunlight.

20 Aug 2025

Alzheimer’s gene risks differ by ancestry, major study reveals 133 new variants

Researchers used whole-genome sequencing from diverse populations to identify 156 variants, including 133 novel ones, linked to Alzheimer’s disease and related dementias. The study highlights ancestry-specific genetic risk and protective factors, challenging one-size-fits-all approaches to dementia genetics.

17 Aug 2025

Researchers uncover dozens of traits driven by maternal versus paternal genes

Researchers developed a high-accuracy method to infer whether genetic variants come from the mother or father without needing parental genomes, analysing 286,666 UK Biobank participants. They uncovered over 30 parent-of-origin effects on traits from growth and metabolism to diabetes, many showing opposite effects depending on parental source.

7 Aug 2025

Scientists map the genes behind diet and dementia risk

Researchers established a high-quality genetic dataset from the MIND diet trial, enabling new studies of gene–diet interactions in cognitive health. This resource allows deeper investigation into why individuals respond differently to dietary interventions targeting dementia risk.

6 Aug 2025

Gene-edited mosquitoes slash malaria spread 93% using self-propagating shield

Scientists engineered a naturally occurring genetic variant (Q224) in Anopheles stephensi mosquitoes, making them highly resistant to malaria parasites without affecting fitness. A novel gene-drive system rapidly spread this protective trait through lab mosquito populations, offering a potential breakthrough for malaria control.

24 Jul 2025

Scientists open new atlas of genetic diversity with advanced sequencing

A global team mapped over 100,000 structural variants in human genomes by applying Oxford Nanopore long-read sequencing and a novel graph-based analytical approach to samples from 26 populations. The study reveals the extraordinary complexity and diversity of human DNA, providing an open-access atlas that will accelerate discoveries in genetic disease and human evolution.