Research on treating disease by editing or delivering genes. Covers sickle-cell gene therapy, gene-editing nanoparticles, mRNA delivery, and blood-cell-inspired carriers.
Researchers have found four novel loci associated with eosinophilic esophagitis, a severe food allergy. The study suggests that genetic factors play key roles in the disease and may offer attractive targets for therapy. Understanding these biological networks could lead to tailored approaches for treatment.
Researchers developed a gene therapy that boosts Factor IX levels in men with severe hemophilia B, resulting in significant reductions of 90-94% in spontaneous bleeding episodes. The treatment has enabled patients to adopt more active lifestyles without needing frequent clotting factor injections.
Researchers have identified specific genetic mutations in melanoma tumors that predict effective responses to a groundbreaking immunotherapy. The discovery, published in the New England Journal of Medicine, could lead to more targeted and personalized cancer treatments, including tailored therapies for patients with diverse tumor genomes.
Researchers established induced pluripotent stem (iPS) cells from Werner syndrome fibroblasts, which can be used for drug discovery and gene therapy. The iPS cells have recovered telomeric abnormalities and similar expression levels of aging-related genes as normal iPS cells.
A promising anti-cancer approach targeting Malt1 protein's protease function in lymphoma cells may also cause destructive autoimmune inflammation when its other functions are preserved. Researchers discovered this unexpected side effect using an animal model, emphasizing the need for new alternatives to treat lymphomas.
A new gene therapy treatment has demonstrated effectiveness in a canine model of DMD, skipping exons to produce functional dystrophin protein. The treatment was well-tolerated and resulted in high levels of dystrophin expression, with muscle strength increasing at higher doses.
A 47-year-old woman with intrahepatic cholangiocarcinoma received a uniquely personalized treatment based on her genetic profile, achieving significant tumour shrinkage and symptom improvement. The use of next-generation sequencing revealed a rare BRAF mutation, which was targeted by dabrafenib and trametinib therapies.
Researchers at CNIO have developed a mouse model that expresses the most common K-Ras mutation found in Noonan patients, reproducing its most representative features. The study aims to advance knowledge of the syndrome and develop specific treatments for each mutation.
Scientists discovered eight shared molecular pathways and several key driver genes in Type 2 diabetes and cardiovascular disease. These findings suggest that treating the two conditions together could be effective, with potential therapeutic targets identified.
Researchers at Stanford Medicine have devised a new way to edit the genome without using enzymes or promoters, which may lead to a safer and longer-lasting treatment for genetic diseases like hemophilia. The technique successfully cured mice with hemophilia by inserting a gene for a clotting factor missing in the animals.
Researchers have identified 107 genes that contribute to the risk for autism spectrum disorder (ASD), highlighting three key pathways: synaptic function, chromatin remodeling, and transcription. These findings provide a better understanding of genetic and cellular changes in ASD and may eventually lead to potential therapies.
George Dickson receives 'Scientist of the Year' award from the Muscular Dystrophy Campaign for his pioneering work on novel therapies for rare diseases like Duchenne Muscular Dystrophy. The award recognizes his dedication to researching potential treatments and cures for people with DMD and related neuromuscular conditions.
A research team led by NUS scientists has identified several potent inhibitors that selectively target FTO, a gene strongly linked to obesity. The discovery paves the way for the development of novel anti-obesity drugs and treatments.
Researchers developed an AAV-mediated gene therapy approach to correct hyperbilirubinemia in a mouse model of Crigler-Najjar syndrome type 1. The treatment achieved significant, long-lasting reductions in bilirubin levels, with 50-70% reductions maintained throughout the study.
A modified y-retrovirus vector has been found to restore the immune systems of children with X-linked severe combined immunodeficiency, a rare and life-threatening inherited condition. The new approach is equally effective at restoring immunity and may be safer than previous gene therapy methods.
A new form of gene therapy for SCID-X1 appears effective and safe, correcting the disease with a functioning immune system in seven out of eight patients. The therapy's long-term safety is still being monitored, but preliminary results suggest a reduced risk of leukemia compared to previous trials.
Researchers discovered that mutations in the PIK3R1 gene, particularly R348, can activate ERK and JNK signaling cascades, enabling tumor growth. Targeted therapies may need to focus on these mutant tumors, offering a potential new approach for treating endometrial and colon cancers.
Researchers found large droplets of triglycerides within neurons of mice modeling the disease, leading to potential therapies and a new investigative strategy. The study points to triglyceride metabolism as a key factor in hereditary spastic paraplegia.
Researchers found that adding rapamycin to an immunotherapy approach strengthened the immune response against brain tumor cells, increasing the effect of new therapies. The study also showed increased memory cells, allowing the immune system to attack tumors more effectively.
Researchers describe a novel liver-directed gene therapy approach that corrects heart symptoms in a model of rare enzyme disorder MPS I. The treatment, using an AAV vector, achieves sustained serum enzyme activity and reduces glycosaminoglycan storage in tissues.
A Penn researcher and CVS Health physician suggest an alternative payment model for gene therapy, which would replace single large payments with annuity payments over a defined period. This approach could help ensure sufficient investments in expensive gene therapies by spreading out payments and linking them to evidence of continued e...
The Jeffrey Modell Foundation has awarded a research grant to a Belgian laboratory led by Adrian Liston to develop a gene therapy for children suffering from IPEX syndrome. The gene therapy aims to correct the mutation responsible for the disease, offering a potential cure for this rare and fatal autoimmune disorder.
Researchers have developed a new reprogramming factor cocktail that produces high-quality induced pluripotent stem cells with fewer genetic abnormalities. The SNEL combination outperforms existing methods, such as OSKM, in terms of cell quality and efficiency.
The Pioneer Award recipients have made significant contributions to gene therapy for retinal degeneration. Their research has led to proof-of-concept studies demonstrating the feasibility of using gene therapy to repair photoreceptor defects in the eye.
A new gene therapy approach has been shown to be effective in preventing and treating botulism exposure, with a single treatment leading to prolonged production of antitoxin proteins. The therapy, known as VNA gene therapy, can protect against toxin-mediated diseases such as C. difficile and Shiga toxin-producing E. coli infections.
Researchers at the University of Pennsylvania have successfully treated lysosomal storage disease MPS I using gene therapy, reducing harmful protein accumulation and improving symptoms. The treatment involves direct gene transfer into glial and neuronal cells in the brain and spinal cord.
Researchers at UNC Lineberger Comprehensive Cancer Center have developed a new integrated approach to pinpoint genetic drivers of cancer, identifying eight genes linked to luminal breast cancer. These findings offer hope for personalized medicine and potential targeted therapies.
Researchers at the University of Missouri School of Medicine have developed a gene therapy that protects mice from a life-threatening heart condition caused by muscular dystrophy. The therapy targets a different gene involved in the heart's response to stress and shows significant improvements in overall heart health.
Research at VHIO confirms Myc inhibition as a sound and effective therapeutic strategy for glioma, with no evidence of resistance or side effects. The study reveals new insights into the biology of Myc and its potential to halt normal cell division, leading to tumor cell death.
Scientists at Mayo Clinic and Scripps Research Institute developed a new therapeutic strategy to combat the most common genetic risk factor for ALS and FTD. They discovered a potential biomarker that can track disease progression and measure the efficacy of therapies.
A team of researchers at the University of Texas at Arlington has developed a genetic computer network model that can predict the onset of mental illnesses such as bipolar disorder and schizophrenia. The model uses single nucleotide polymorphism networks to analyze a patient's genetic pattern and apply personalized therapy.
A new clinical trial has been initiated to assess gene therapy for patients with heart pumps, with the goal of improving heart function. The trial will evaluate the effectiveness of a gene therapy that increases SERCA2a protein levels in heart muscle cells, providing potential relief from advanced heart failure.
Scientists have discovered a new form of dystrophin protein that can be produced through an alternate cellular mechanism in patients with Duchenne muscular dystrophy. This mechanism involves an internal ribosome entry site and could offer a novel therapeutic approach for patients with mutations affecting the first four exons.
Researchers successfully corrected disease-causing mutations in cells from patients with beta-thalassemia using CRISPR/Cas9 technology. The corrected cells showed restored expression of hemoglobin and could differentiate into mature blood cells.
Dr. Brenner's work has contributed significantly to advancing the field of gene transfer using retroviral vectors in cancer immunotherapy. He is recognized for his contributions to developing genetically modified T cells that can effectively target tumors.
A genetic screening test can predict which children with one of the most common childhood kidney diseases will respond to standard therapies, guiding treatment and improving clinical outcomes. The test was found to be more predictive than a kidney biopsy in identifying non-responders to immunosuppressive treatments.
A combination treatment of gene inhibitor AAVshPTEN and salmon fibrin injections restored voluntary motor function impaired by spinal cord injury in rodents. This breakthrough expands on previous research at UCI and provides a novel scaffold for neuronal axons to grow and link up again.
Researchers from Scripps Florida have discovered a gene called Spns1 that plays a critical role in combating aging. The study found that manipulating the function of this gene can affect both developmental senescence and long-term biological aging.
Researchers have developed a promising new approach to editing gene transcripts, which uses targeted oligonucleotide drugs. This technique has already shown promise in treating diseases such as Duchenne Muscular Dystrophy and spinal muscular atrophy.
Columbia University researchers create a way to develop personalized gene therapies for patients with retinitis pigmentosa, a leading cause of vision loss. They use induced pluripotent stem cell technology to transform skin cells into retinal cells, which are then used as patient-specific models for disease study and preclinical testing.
Researchers investigate gene therapy as a potential treatment to improve viability and regenerative capacity of injured adult retinal ganglion cells. Studies using modified viral vectors introduce genes into injured visual pathway cells, aiming to promote long-distance axon regeneration.
Dr. Christof von Kalle has received a Pioneer Award from Human Gene Therapy for his leadership and accomplishments in the field of cell and gene therapy. He is recognized for his seminal contribution to vector integration, a critical feature of retro- and lentivirus-based vectors.
Researchers at Scripps Research Institute found that the drug rapamycin can improve the delivery of genes to blood stem cells, increasing efficiency from 30-40% to up to 80%. This breakthrough could lead to more effective and affordable treatments for leukemia and sickle cell anemia.
Dr. Frederic D. Bushman is recognized for his pioneering work on HIV reproduction and its application to advancing gene delivery methods. His research has contributed to the development of new vectors and targeting methods, informing safety profiles.
Researchers discover distinct mutational signature and nine significantly mutated genes associated with nasopharyngeal cancer. The findings provide an enhanced road map for studying the molecular basis of this disease, which has limited understanding compared to other cancers.
Researchers have designed RNA aptamers that specifically target and inhibit PAI-1's anti-clot-busting activity. These aptamers demonstrate the potential for blocking PAI-1-associated vascular events, offering a novel therapeutic option for cardiovascular disease prevention.
Researchers at Scripps Florida have discovered how a specific genetic mutation damages the developing brain, leading to intellectual disability. The study suggests new possibilities for therapeutic intervention and highlights potential biomarkers for cognitive failure.
Amino acids at positions 11, 71 and 74 on the HLA-DRB1 gene identify RA patients at risk of joint damage and early death. The findings suggest that genotyping can predict disease outcomes in rheumatoid arthritis patients.
A nationwide study, led by the Children's Hospital of Eastern Ontario Research Institute, has solved 146 rare disorders and identified 67 novel genes associated with rare diseases. The research team used exome sequencing to identify common biological pathways across multiple rare disorders.
The study identified oncogenic driver genes in over 1,000 lung cancer patients and found that those with targeted treatments survived longer. The researchers aim to expand this technology to other types of lung cancer.
A study has identified 152 unique genes that may be responsible for keloid scarring, a condition characterized by raised, firm skin areas. The researchers found that certain genetic pathways play a crucial role in the development of keloids and could lead to new treatment options.
Researchers successfully delivered a replacement SMN1 gene to animal models of SMA, extending their survival. The study demonstrates that enough copies of the SMN1 gene can be delivered to motor neurons in the spinal cord.
A novel RNAi therapy successfully blocks production of the dysfunctional huntingtin protein, causing Huntington's disease. The treatment reduces mutant Htt levels and disease symptoms in a mouse model without causing neurotoxicity.
A study found that genetic alterations in lung cancer tumors can help select targeted treatments, resulting in improved survival rates for patients. The researchers identified actionable oncogenic drivers in 64% of patients and used this data to guide treatment decisions.
Researchers have developed gene therapies to prevent and treat blinding diseases, including choroideremia and retinitis pigmentosa. These treatments involve replacing missing genes in the cells at the back of the eye, resulting in improved vision for some patients.
Dr. James M. Wilson has dedicated his research to developing gene therapy and vectors for treating inherited diseases. He has made seminal contributions to adenoviral and AAV vector technologies, enabling the successful development of commercial products across various disease targets.
Researchers used a genetic approach to find that cortical neurons play a key role in initiating the disease, while shutting down mutant huntingtin in both sets of cells corrected symptoms. The study suggests new targets for therapeutic drugs to slow the devastating disease.
A study has identified a dozen genetic mutations involved in changes to complete blood counts and the onset of severe biological disorders. The research used DNA from 6,796 people and found mutations in genes related to red and white blood cells and platelets.
Researchers at UNSW Australia have successfully regrown auditory nerves using bionic ear technology and gene therapy, potentially improving outcomes for people with cochlear implants. The technique delivers neurotrophins to cells near the implant electrodes, promoting nerve regeneration.
A majority of Europeans view biomedical research as a source of hope and trust the public to challenge opinion. However, most lack scientific literacy and rely on experts for understanding, highlighting the need for education and communication about research findings.