Splicing is a process necessary for the correct synthesis of proteins and an essential step in gene expression. An impaired minor splicing may lead to aberrant pre-mRNA transcripts and exon skipping, leading to premature stop codons and truncated synthesized proteins, resulting in severe consequences.
Researchers have identified bi-allelic variants in the POPDC2 gene as the cause of a rare inherited cardiac syndrome characterized by sinus node dysfunction, atrioventricular (AV) conduction defects and hypertrophic cardiomyopathy.
In a recent study published in Nature Genetics, a team of scientists used CRISPR-Cas9 gene editing to systematically analyze genetic weaknesses in uveal melanoma cells and comprehensively map monogenic and digenic dependencies.
SK Bioscience Ltd. announced that the company has submitted an investigational new drug (IND) application to the South Korean Ministry of Food and Drug Safety.
Rhabdomyosarcoma is the most frequent cancer affecting soft tissues in children, and existing therapies often fail to stop relapse or prolong survival. Researchers in Germany and the U.K. have developed a potential new therapy based on natural killer cells expressing a chimeric antigen receptor against epidermal growth factor receptor (EGFR-CAR).
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, is caused by silencing of the Fmr1 gene, leading to a lack of the FMRP protein, which regulates protein synthesis in neurons. One key pathway affected by FMRP loss is the metabotropic glutamate receptor 5 (mGluR5) signaling pathway, where activation of mGluR5 leads to excessive translation of several proteins involved in synaptic plasticity.
There is still no effective vaccine or cure for HIV. Scientists are considering options ranging from longer-term antiretroviral therapy (ART) that space out injections by several years to long-lasting pre-exposure prophylaxis (PrEP) that acts as a vaccine while immunization is achieved. What else can be done? The “Innovations in HIV virology: Translating discoveries into novel therapies” symposium in basic science at the 13th IAS Conference on HIV Science (IAS 2025), which took place from July 13 to 17, 2025, in Kigali, Rwanda, showcased some of the new ideas that the scientific community are developing.
After a 10-year project and a £60 million (US$80 million) investment, the UK Biobank has completed the whole body scans of 100,000 volunteers and is making the 1 billion images available for researchers worldwide.
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