All Rare & Genetic Disorders articles
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NewsMetabolic vulnerabilities identified in rare Fibrolamellar liver cancer
Researchers have identified metabolic vulnerabilities in Fibrolamellar cancer, a rare liver malignancy affecting adolescents and young adults, using functional profiling and mass spectrometry. The findings suggest chemotherapy-resistant tumours may be susceptible to metabolism-targeted therapies.
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NewsOrganoid study reveals valproate’s impact on developing brain
German researchers have used cerebral organoids to investigate how the epilepsy medication valproate interferes with early brain development, identifying significant disruption to the extracellular matrix and neuronal maturation that may explain increased neurodevelopmental risks in exposed foetuses.
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NewsCircio’s circular RNA platform shows 40-fold gene expression boost
Circio Holding has presented preclinical data at ASGCT demonstrating that its circVec circular RNA platform achieved up to 40-fold greater gene expression in cardiac tissue and 50-fold in ocular tissue compared with conventional AAV gene therapy approaches, potentially enabling significant dose reductions and improved safety profiles.
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ArticleWomen in STEM: resilience and leadership in rare disease research
Rare neurological diseases remain one of the most challenging areas in drug discovery, with many patients still lacking treatment options. Dr Nitza Thomasson discusses returning to Servier to lead its rare neurology therapeutic area and explains why resilience, curiosity and persistence are essential for those looking to build a meaningful career in STEM.
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NewsMolecular switch discovery could lead to new bone disease treatments
A molecular switch that activates an alternative energy-burning pathway in brown fat has been identified by McGill University researchers, offering potential new approaches to treating bone disease and metabolic disorders through the TNAP enzyme’s glycerol pocket.
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ArticleVariant or viable target? How resolving complex genomic regions is reshaping rare disease therapeutics
Dr Aaron Wenger reveals how improvements in long-read sequencing technology is enabling the elucidation of complex disease mechanisms for targeted and effective treatments for rare diseases.
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NewsScientists link IVNS1ABP gene to new ageing disorder
An international research team has identified a previously unknown genetic disease characterised by premature ageing and progressive neurological decline. Using genome sequencing combined with induced pluripotent stem cell technology, scientists traced the condition to a mutation in the IVNS1ABP gene and uncovered disrupted actin dynamics during cell division as the underlying pathological mechanism.
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NewsNew study revives long-doubted target for depression drugs
Researchers have shown that changing the molecular structure of NK1 receptor antagonists may restore antidepressant effects after decades of failed trials.
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NewsNew Lumos AI platform targets precision in mental health drugs
Headlamp Health has launched Lumos AI®, a new decision-support platform designed to bring greater precision to neuroscience drug development.
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NewsPropofol and insulin may reduce cognitive decline in older age
New research from the University of Illinois suggests that widely used drugs, including propofol and intranasal insulin, could help protect ageing brains from memory decline and postoperative cognitive impairment.
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NewsHomer1 gene discovery could lead to new ADHD therapies
A new study published has demonstrated that reducing background brain activity can sharpen attention, identifying the Homer1 gene as key to developing new targeted treatments for ADHD and related disorders.
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ArticleProtein folding interference: a new path to hard-to-drug targets
Protein folding interference offers access to targets long considered unreachable by traditional drug discovery. By acting on transient folding intermediates, this approach presents a new opportunity to eliminate disease-driving proteins.
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NewsBlocking the P2X4 receptor: a potential pathway to new therapies
Researchers have discovered how to inhibit the P2X4 receptor, a key protein linked to chronic pain, inflammation and certain cancers.
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NewsAutomated lung organoids to speed up new drug development
Scientists have developed an automated method to grow lung organoids, with the hope of speeding up drug testing, reducing reliance on animal models and helping to develop new personalised treatments.
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NewsBacterial traces discovered within gliomas and brain metastases
Scientists have discovered active bacterial traces inside brain tumours, overturning assumptions about the brain’s sterility and opening up new possibilities for understanding – and potentially treating – gliomas and brain metastases.
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NewsNew framework enhances reliability of virtual cell models
Shift Bioscience have announced new research revealing that AI-driven virtual cell models perform far better than previously thought when assessed with correctly calibrated metrics.
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ArticleRecombinant KLK1: the next step in stroke and preeclampsia treatment
With its lead candidate DM199, DiaMedica Therapeutics is advancing a recombinant form of KLK1 to restore blood flow, improve endothelial function and address unmet needs in the treatment of stroke and preeclampsia.
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ArticleMeet WRPRFa: the precision peptide changing how we study pain
A newly developed peptide, WRPRFa, is giving scientists a clearer view of how the acid-sensing ion channel (ASIC3) drives pain signalling.
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NewsExisting nerve pain drugs may help stop bone cancer spread
Scientists have discovered that two existing pain medications – bupivacaine and rimegepant – may not only relieve the severe pain caused by osteosarcoma but also slow the disease’s growth.
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NewsTRF1 protein identified as potential obesity drug target
Researchers have discovered that removing a telomere-protecting protein, TRF1, makes mice leaner and metabolically healthier without shortening their telomeres, potentially leading to new methods for tackling obesity and age-related diseases.