Research on treating disease by editing or delivering genes. Covers sickle-cell gene therapy, gene-editing nanoparticles, mRNA delivery, and blood-cell-inspired carriers.
A gene therapy strategy has shown encouraging early results against Angelman syndrome, a neurodevelopmental disorder affecting approximately one in every 20,000 children. The therapy restores function of the UBE3A gene in neurons, preventing key signs of the condition and improving motor skill-learning and behaviors.
A novel computational platform called scAAVengr uses single-cell RNA sequencing to quickly evaluate viral vectors for delivering gene therapies to the retina with maximum efficiency and precision. This approach saves time and resources by identifying suitable candidates that can deliver therapy to affected parts of the retina accurately.
A group of researchers led by Indiana University School of Medicine's Benjamin Gaston will receive a research program project grant to fund the development of personalized therapeutic approaches for severe asthma. The grant will support three key projects focused on S-nitrosylation signaling, airway pH regulation, and androgen signaling.
Researchers developed a new protein treatment that prevents glaucoma from forming in mice and reduces pressure in the eyes. The study provides new targets for therapies and aims to develop an injectable treatment for patients.
Researchers report that 90% of patients who received gene therapy between 2009 and 2012 remain disease-free, with significant immune system differences observed among those treated. The therapy is most effective in younger children, but further work is needed to achieve high levels of gene correction in all patients.
A new study from the University of Pennsylvania School of Medicine found that the gene CDKL5 plays an essential role in the brain throughout life, even after childhood. Researchers discovered that reinstating CDKL5 activity in young adult mice with a genetic deficiency led to significant improvements in neurological problems.
Researchers conducted genomic evaluations of advanced malignancies to develop matched, individualized combination therapies. The study found that precision cancer therapy improved median overall survival rate by 3.9 months compared to standard care.
A study by Purdue University researchers has discovered a way to use gene therapy to turn glial brain cells into neurons, restoring visual function. This process is more efficient and less damaging than stem cell therapy, offering new hope for patients who have lost vision or motor skills after a stroke.
Researchers at the University of Virginia Health System have identified 14 genes that can cause and three that can prevent weight gain, offering a promising lead in developing new treatments for obesity. The findings were made using a worm model of obesity and automation to test hundreds of genes.
The American Academy of Otolaryngology - Head and Neck Surgery will present research on ear health, head and neck cancer, sleep-disordered breathing, and more at its annual meeting. Twelve 'Best of Orals' and 14 late-breaking scientific oral presentations will be showcased.
Researchers at Purdue University have successfully reversed pancreatic cancer progression in a new model called the acinus, which produces digestive enzymes. The study found that reactivating the PTF1a gene in cancerous cells converted them back into normal cells, revealing a potential path to treating pancreatic cancer.
Patients with certain gene mutations are at high risk of fatal chemotherapy toxicity, with a 25-times increased risk detected in those with uncommon DPYD variants. The study suggests that adding pre-treatment screening may help prevent avoidable deaths without interrupting standard care.
A team of researchers from IOCB Prague has discovered a new type of nanoparticles capable of safely transporting various types of nucleic acids used for therapeutic purposes into cells. The universal nature of their system sets it apart from existing solutions, allowing for efficient transport of mRNA and other RNA molecules into cells.
Researchers at St. Jude Children's Research Hospital found that the tumor suppressor gene PTEN controls rhabdomyosarcoma cell identity and that enhancing PAX7 expression can maintain tumor cell existence, providing a potential treatment target for rhabdomyosarcoma.
A new gene delivery system promotes healing in rat models by preventing inflammation and bone degradation after tooth replantation. The study found that teeth treated with the system showed significantly greater dental root thickness and fewer osteoclasts, leading to improved success rates.
Researchers found that high levels of MYO10 induce chronic inflammation, reducing T cell function, but also increasing immune response. This led to improved outcomes with immune checkpoint blockade therapy for certain tumors.
Researchers at Universitat Autonoma de Barcelona develop gene therapy that fully corrects severe whole-body alterations in Morquio A disease, a rare condition caused by GALNS enzyme deficiency. The therapy, administered via intravenous viral vector, prevents bone malformations and life-threatening complications.
A novel gene-based COVID-19 vaccine leveraging an adeno-associated viral vector platform was highly effective in eliciting neutralizing antibody responses and cellular immunity from a single dose. The vaccine provided near-complete protection against SARS-CoV-2 challenge in nonhuman primates for at least 11 months.
A compact CasMINI CRISPR system has been engineered for efficient gene regulation and editing in mammalian cells. The system, derived from the naturally occurring archaeal protein Cas12f, is highly specific and efficient, making it suitable for various therapeutic applications.
Researchers have genetically engineered cells that can deliver a biologic drug in response to inflammation, reducing inflammation and preventing bone damage in mice with rheumatoid arthritis. This approach could provide personalized treatments for arthritis patients, limiting side effects associated with current therapies.
Researchers at McGill University identified proteins that drive cancer stem cells in brain tumours. Targeting the protein galectin1 may provide a more effective treatment for glioblastoma when combined with radiation therapy. The study found significant improvement in tumour response to radiation therapy, resulting in expanded lifespan.
The study found that DNMT2/TRDMT1 gene knockout can affect the responses to senescence-inducing concentrations of doxorubicin and etoposide in different cancer cells. This may lead to diverse outcomes based on the type of cancer cells and anti-cancer drugs used.
A study published by the European Society of Human Genetics found that genetic testing can identify the cause of childhood epilepsy in half of those studied, allowing for tailored treatments. This breakthrough discovery has the potential to improve treatment possibilities and avoid unnecessary procedures.
Scientists at Kyoto University developed a chemical compound that can tag and remove mutant DNA sequences from mitochondria, potentially treating mitochondrial diseases. The approach overcomes existing problems with genetic material injection and antioxidant drugs.
Isaac Hilton is using non-integrating episomal DNA viruses to create a new platform technology for cell and gene therapies. He aims to hijack these viruses to safely program medicinal functions in human cells.
Fels and Fox Chase researchers found specific TET2 and DNMT3A mutations in leukemia patients that affect DNA repair pathways. These mutations make leukemia cells sensitive to PARP inhibitors, a type of targeted therapy, while others are resistant. The study aims to develop personalized therapies for patients with these mutations.
The article considers the ethical issues surrounding enrolling children with neurodevelopmental conditions, such as autism spectrum disorder and fragile X syndrome, in clinical trials. Parents may face difficult decisions about whether to enroll their children due to concerns about potential loss of positive aspects of their condition.
A study by Duke University researchers found antibiotic-resistant bacteria in the guts of lemurs living close to humans. The closer the contact, the more resistant bugs were found. Proximity to humans determined the type and abundance of resistance genes acquired.
Researchers from the Hubrecht Institute have successfully corrected mutations that cause cystic fibrosis in cultured human stem cells using prime editing. The technique is safer than CRISPR/Cas9 and shows promise for application in patients, potentially leading to a cure or prevention of genetic diseases.
Researchers discovered a new way to treat PTSD by targeting epigenetic modifications. Combining two natural products, SAMe and vitamin A, reversed PTSD-like behaviors in animals. This approach offers hope for a non-toxic treatment that addresses the underlying genetic cause of the disease.
A study published in Trends in Genetics reveals that the cat genome is remarkably similar to the human genome, with similarities found even in mice and dogs. This discovery holds promise for understanding genetic diseases in cats and humans, including polycystic kidney disease and hypertrophic cardiomyopathy.
Researchers at Children's Hospital of Philadelphia have developed a system that can fine-tune protein expression from gene therapy vectors, addressing the need for controlled dosing. The 'dimmer switch' uses alternative RNA splicing and an orally available small molecule to adjust levels of expression up or down as needed.
A large-scale genetic study has identified new drug targets to treat type 1 diabetes by examining 61,427 participants and pinpointing 78 regions on the chromosomes that influence risk. The researchers found 36 previously unknown regions and specific gene variations that can be used to identify potential drug targets.
Scientists discover gene therapy that protects optic nerve cells and preserves vision in mouse models of glaucoma. The study suggests a way forward for developing neuroprotective therapies for glaucoma, a leading cause of visual impairment and blindness.
Scientists discovered that cells from different organs are differentially susceptible to activating mutations in cancer drivers, leading to distinct outcomes. The findings highlight the importance of understanding tissue-specific genetic networks and interactions to develop precise molecular interventions.
Scientists found that HtrA1 protein levels decrease with age in individuals with chromosome 10 risk variants associated with age-related macular degeneration. The study identified HtrA1 as a protective factor, suggesting it maintains the integrity of the RPE-Bruch's membrane interface.
A new study suggests that gene therapy delivered into the brain may be safe and effective in treating AADC deficiency. The therapy resulted in clinical improvement of symptoms, including reduced oculogyric crises, improved movement and motor function, and better sleep patterns.
A novel gene therapy method has shown dramatic improvement in symptoms, motor function, and quality of life for children with AADC deficiency. The treatment involves introducing a benign virus programmed with specific DNA into precisely targeted areas of the brain.
A new study reveals that light therapy's benefits come from activating the Period1 gene in a brain region involved in mood regulation. Exposure to light at the end of the dark period has an antidepressant effect on mice.
A global initiative involving Qatar Foundation Research has identified 13 loci associated with severe COVID-19 severity. The study highlights the importance of diversity in genetic datasets and paves the way for future therapeutic targets.
A comprehensive genome-wide association study identified 13 loci strongly associated with infection or severe COVID-19, including causal factors like smoking and high body mass index. The findings could provide targets for repurposed drugs and illustrate the power of genetic studies in infectious disease.
A team at Tokyo Medical and Dental University identified four proteins that bind to Toc-HDOs, regulating gene silencing. The discovery provides a novel biological mechanism for Toc-HDOs, increasing understanding of how they silence genes.
Researchers at Mayo Clinic have discovered a single-gene cause of a neurodevelopmental disorder, identifying 28 unique variants in the SPTBN1 gene. The study provides hope for diagnosis and potential treatment for affected individuals.
Researchers at Baylor College of Medicine have developed a novel gene therapy that shows promise in treating human heart failure. The treatment targets the Hippo signaling pathway, which can inhibit heart repair, and has been shown to improve heart function and promote tissue renewal in pig models after a heart attack.
Scientists at UCL GOS ICH and Great Ormond Street Hospital have developed a precision gene therapy that has been shown to relieve defects in DTDS brain cells, potentially offering a cure for the condition. The therapy was tested on laboratory models and mice, showing promising results and paving the way for a clinical trial.
Researchers have linked specific genes to obsessive-compulsive disorder (OCD) using genome-wide analysis, pointing toward novel avenues for treatment. The study identified a strong correlation between OCD and rare mutations in genes such as SLITRK5.
A new multiplex technique developed at Goethe University Frankfurt allows simulating millions of genetic defect combinations and studying their effects in cell culture. This enables the identification of genes involved in cancer and other complex diseases suitable as targets for therapies.
An international study on rare childhood cancer, rhabdomyosarcoma, found that mutations in genes TP53, MYOD1, and CDKN2A are associated with a more aggressive form of the disease. The study provides genetic clues for developing targeted therapies.
Researchers have identified neural crest stem cells as a key factor in non-genetic drug resistance mechanisms, which can help predict potential resistance routes in patients and develop personalized therapies.
Researchers at UNC School of Medicine developed an improved oligonucleotide therapy strategy that can correct gene defects underlying cystic fibrosis. The approach has shown promising results in both human cells and mice, with potential applications for treating other pulmonary diseases.
A convolutional neural network-based algorithm predicts tumor mutational burden-high (TMB-H) colorectal cancer response to immunotherapy. The model uses histopathological characteristics, particularly tumor-infiltrating lymphocytes, from hematoxylin and eosin-stained slides.
Researchers developed a novel gene therapy approach that utilizes acetaminophen to correct disease-causing mutations and make liver cells immune to its toxic effects. This allows treated cells to multiply and reduces the need for liver transplants in treating genetic disorders.
Researchers have developed a platform that produces bespoke star-shaped polypeptide nanoparticles, effectively delivering range of therapies including gene therapies. The material accelerates bone tissue regeneration with a six-fold increase in new bone formation.
A preclinical study supports AAV8-TNAP-D10 as a single-dose treatment for hypophosphatasia, extending the life span of mice with minimal side effects. The therapy may provide an alternative to current medication injections, benefiting patients with severe skeletal and dental abnormalities.
The Treatabolome project is an EU initiative that seeks to deliver rare disease and gene-specific treatment information to healthcare professionals. Systematic reviews on various rare neurological disorders are now available, providing a foundation for the platform's database.
The acylfulvene alkylating agent LP-184 demonstrates highly potent anticancer activity in NSCLC cell lines, correlating with PTGR1 transcript levels. It targets tumors regardless of co-occurring mutations but is especially effective in KEAP1 mutant settings.
Researchers have found that a truncated version of the otoferlin gene, including its transmembrane domain, is essential for proper neurotransmitter release and sensory cell maturation. This discovery brings scientists closer to developing gene therapy treatments for severe congenital hearing loss.
A Salk study reveals the connection between CRTC3 and melanin production, finding that eliminating the protein can reduce melanoma cell aggression. The researchers also discovered two cellular communications systems converge on CRTC3, suggesting it as a potential target for developing new treatments.
University of Maryland faculty members Shelby Bensi, Gregg Duncan, Katrina Groth, and Katharina Maisel have received CAREER grants for their innovative research in hazard assessment, gene therapy, risk assessment, and immunotherapy. Their work aims to advance the fields of civil engineering, bioengineering, and mechanical engineering.
Researchers have created nanoparticles that can effectively deliver and protect siRNA, a promising class of therapeutics targeting harmful genes. This breakthrough aims to improve the treatment of diseases by fine-tuning mRNA production, offering a new approach to managing irregular protein expression.