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 at the National Eye Institute used CRISPR to rescue photoreceptors in mice, preserving daylight and color vision. The approach could lead to novel therapies for preventing vision loss from human diseases such as retinitis pigmentosa.
A team of researchers has identified a gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia. The study used DNA massive sequencing techniques to identify the altered genes in each patient, providing new insights into the genetic basis of this disease.
A study published in the Public Library of Science Pathogens found that Zika virus targets neuronal, lymph, joint, muscle and genital/urinary/reproductive tissues, persisting for at least 35 days. The research provides insights into the growth and distribution of the virus in human tissues.
Scientists construct five new artificial yeast chromosomes, representing over one-third of yeast's entire genome, paving the way for building the first fully synthetic complex organism. The successful assembly demonstrates genetic plasticity and potential applications in gene therapy, biofuel production, and medicine.
Researchers from the University of Würzburg discovered four variants of the GLRB gene associated with anxiety and panic disorders, triggering an
A study by Boston University School of Medicine researchers has identified common and unique patterns of protein synthesis associated with increased longevity. This discovery could lead to the development of new therapeutic targets for human diseases such as type 2 diabetes, cancer, and cardiovascular disease.
The St. Jude gene therapy program will deliver gene therapy to patients with X-linked severe combined immunodeficiency disease (X-SCID), also known as 'bubble boy' disease, at the University of California, San Francisco. The new grant supports widening access to this life-saving treatment for rare but deadly immune disease.
New research concludes that AAV vectors used in gene therapy do not increase the risk of cancer and may even have anti-tumorigenic properties. The study's authors review biomedical evidence showing that AAV2 can negatively impact other viruses associated with malignancy.
Scientists have engineered the smallest CRISPR-Cas9 system to date, capable of delivering gene editing to muscles and eyes via AAV. This technology targets age-related macular degeneration (AMD) and other 'undruggable' genes, offering a promising therapeutic tool.
A novel gene therapy technique, called charge-altering releasable transporters (CARTs), has been developed to deliver messenger RNA (mRNA) into cells. This method overcomes the challenge of delivering mRNA through cell membranes and shows promise for treating diseases by inserting therapeutic proteins.
Drs. Marco Gallo and Greg Delgoffe receive ACGT Young Investigator Grants to study glioblastoma and metastatic melanoma, focusing on gene therapy and T cell metabolism to boost immune responses against cancer.
Researchers have used gene therapy to treat Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten lifespan. The treatment involves transplanted altered stem cells with copies of the fully functional gene responsible for the missing enzyme.
Researchers at MDI Biological Laboratory identified a molecular mechanism governing the life-prolonging effects of dietary restriction, a process that occurs in all tested animals. The study raises hope for therapies that prolong healthy years without extreme diet restrictions.
Researchers develop gene therapy to treat myotubular myopathy, a rare inherited disease causing fatal muscle wasting. A single infusion restores normal health in affected dogs, demonstrating potential for treating skeletal muscle disorders.
Researchers at Salk Institute use mRNA therapy to deliver instructions for clotting protein, achieving normal clotting and minimal immune response in mice. The therapy shows potential as a cost-effective and safer alternative to existing treatments for hemophilia B and other genetic diseases.
Lipid nanoparticles (SLNs) have shown increased effectiveness in delivering nucleic acids, with advantages including protection against degradation and boost to transfection process. Researchers are exploring their application in treating various diseases, including degenerative disorders of the retina, infectious diseases, and cancer.
Researchers validated 70 genes associated with congenital heart disease in fruit flies, including those modifying histone structure. This approach may enable precise gene-editing techniques for tailored treatments.
Researchers have developed a new technique using DNA 'barcodes' to rapidly screen nanoparticles for therapeutic delivery. The method allows hundreds of different types of nanoparticles to be tested simultaneously in just a handful of animals.
A new assay has been developed to detect genetic mutations in tumors, showing high sensitivity and specificity in detecting actionable genomic variants. The NCI-MATCH trial aims to evaluate tumor biopsy specimens from 6,000 patients using this technology.
Researchers at Queen Mary University London have discovered a genetic defect causing kidney and adrenal disease in patients from around the world. The study found that defects in the SGPL1 gene can lead to progressive diseases with neurological involvement.
A new method called synthetic essentiality has been found to identify therapeutic targets in cancers lacking specific key tumor suppressor genes. By analyzing gene deletion patterns, researchers identified CHD1 as a potential treatment site for prostate and breast cancers with PTEN gene loss.
Researchers have successfully restored a high level of hearing in deaf mice using an improved gene therapy vector, which also improves balance function. The technology has the potential to benefit patients with Usher syndrome, who suffer from profound hearing loss and balance problems.
A recent study has identified 83 DNA variants that modulate human height, with some affecting it by more than 2 cm. The discovery is significant for understanding the genetic basis of complex diseases such as diabetes and schizophrenia, and may lead to the development of new therapeutic strategies.
Dr. Stanley T. Crooke presents a detailed look at the mechanisms underlying antisense drug activity, including prehybridization, hybridization, and post-hybridization phases. He highlights his group's contributions to characterizing ASO therapeutics' design, targeting, and mechanism of action.
Researchers developed a new gene-editing method called homology-independent targeted integration (HITI) that efficiently inserts DNA into genes in dividing and non-dividing cells of living rats. The technique uses the CRISPR-Cas9 tool to cut DNA at a specific location, followed by the NHEJ repair pathway for insertion.
Researchers developed a mini-intronic plasmid (MIP) system that can enhance transgene expression by up to 40-100-fold when used with adeno-associated viral (AAV) vectors. This could reduce the cost of gene therapy and lessen immune responses.
A new gene therapy has demonstrated effectiveness in clearing glycogen buildup from muscles in mice, potentially replacing enzyme infusions. The therapy uses a modified virus to deliver a gene that produces an enzyme missing in people with Pompe disease.
Targeting therapeutic genes to the lungs offers potential for managing serious lung diseases that do not respond to other treatments. Preclinical and human clinical studies have targeted various genetic diseases, including cystic fibrosis, asthma, and lung cancer.
Researchers found that inhibiting PLSCR1 controls the infected cell's antiviral response, providing long-term protection from immune attack and excessive inflammation. This discovery holds promise for virally delivered treatments, inflammatory conditions, autoimmune disorders, and neurodegenerative diseases.
Scientists identified collateral lethal vulnerability in pancreatic cancers that can be targeted pharmacologically in certain patient populations. ME3 inhibitors may provide an effective therapy for many cancer patients.
Researchers found a significant excess of mutations in five genes previously implicated only in rare forms of epilepsy in individuals with common forms of the disorder. The study identified these genes as contributing to epilepsy risk in approximately 8 percent of people with familial non-acquired focal epilepsy.
Scientists at Roswell Park Comprehensive Cancer Center have identified gatekeeper genes that allow prostate cancer to progress and resist treatment. The study highlights opportunities to prevent or reverse this process, offering new insights into lineage plasticity and its application in other types of cancers.
Researchers at Northwestern University have discovered a genetic driver of mixed lineage leukemia, a rare and deadly form of childhood leukemia. They identified a targeted molecular therapy that halts the proliferation of leukemic cells by stabilizing the wild-type MLL protein, which drives cancer.
Katherine High discusses gene therapy progress for hemophilia and inherited retinal disorders, highlighting key scientific, regulatory, and commercial challenges. Her leadership in the field has been critical to its current success.
A new research from Michigan Medicine supports combining immune checkpoint blockade with gene therapy to fight gliomas. The approach showed stronger results when used in combination with either depletion of immunosuppressive cells or immune checkpoint blockade.
This study investigates molecular changes in the OTOF gene in patients with auditory neuropathy and identifies the c.35delG mutation in the GJB2 gene. Cochlear implants show excellent outcomes, with improved speech development and language acquisition in patients with severe/profound hearing loss.
Gene therapy for liver disease is advancing with the help of adeno-associated viral (AAV) vectors, offering new therapeutic possibilities. The article discusses preclinical and clinical studies that have led to a better understanding of immune responses to AAV gene therapy.
Researchers evaluated two adeno-associated virus vectors in non-human primates to assess gene expression efficiency and immunogenicity. The results provide insight into the safety and effectiveness of these gene therapy approaches before initiating clinical trials in humans.
Researchers have identified rare genetic variants linked to observable physiological characteristics in over 50,000 individuals. This approach has the potential to inform healthcare and prevent undiagnosed single-gene disorders like familial hypercholesterolemia.
Researchers used CRISPR-Cas9 gene-editing technology to identify three promising new targets for HIV infection. The study screened human genes essential for HIV replication but not for cellular survival, and identified five genes with potential therapeutic applications.
Researchers identified four new markers of primary sclerosing cholangitis risk on the human genome, bringing the total number of known predisposing locations to 20. The study also shed light on the genetic relationship between primary sclerosing cholangitis and inflammatory bowel disease.
Researchers identified five genes that, when inactivated, protected cells from HIV infection without affecting cellular survival. The genes target human proteins essential for HIV replication and viral entry into CD4 T cells.
Researchers at the University of Rochester Medical Center have identified a potential new treatment approach for lysosomal storage disorders, which cause disruptions in cellular functioning. The study found that repurposed drugs can overcome toxic build-up in affected cells, improving survival rates and quality of life.
Researchers used whole exome sequencing to analyze nearly 7,400 patients, identifying a genetic cause in 28 percent. The study shows that multiple genes can be involved in complex diseases, leading to imprecise diagnoses. A unified analysis combining clinical and genetic features provides more precise diagnoses.
Researchers investigated whether genetic variation in an immune system component called the complement system may contribute to vision loss during anti-VEGF therapy in wet AMD patients. Genetic variations were found to lead to complement system dysregulation, which was enhanced by blocking VEGF signaling.
Researchers reported the highest and most sustained levels of clotting factor IX in hemophilia B patients after a single dose of experimental gene therapy. Patients were able to discontinue factor infusions and engage in normal activities without disabling bleeding episodes, significantly improving their quality of life.
Researchers at Kazan University have developed a novel gene therapy approach that combines demineralized bone with genetic material to stimulate blood vessel and bone growth. The treatment shows promise in treating pseudarthrosis and other bone defects, with plans to offer innovative treatments at the Kazan University Clinic.
IDIBELL researchers describe the Ewing's sarcoma methylation profile for the first time, unveiling the potential of the PTRF gene as a prognostic marker and possible future therapeutic target. The study found that PTRF expression is associated with better survival rates in patients.
A new study published in Nature provides key insights into mitochondrial replacement therapy, a gene-therapy technique that aims to prevent the transmission of harmful mitochondrial gene mutations from mothers to their children. By selecting egg donors with compatible haplotypes, clinicians may achieve higher success rates for producin...
Researchers have discovered new compounds that are more stable and effective than their natural equivalents, leading to a better understanding of protein biosynthesis in cells. This could help design better therapeutics and improve patient outcomes.
A novel mapping technique combines imaging and electroanatomical mapping to guide gene therapy injections into viable myocardium with reduced contractile ability, increasing blood flow in patients with refractory angina. This approach shows promise for repairing damaged heart muscle.
Researchers at Columbia University Irving Medical Center have demonstrated that vision loss associated with retinitis pigmentosa can be slowed dramatically by reprogramming the metabolism of photoreceptors. The treatment aims to correct downstream metabolic aberrations, rather than the underlying genetic defect.
The Center for Regenerative Medicine at Boston Medical Center and Boston University School of Medicine has received three prestigious NIH awards totaling over $9 million to further its commitment to induced pluripotent stem cell (iPSC) research and education. These awards will support the development of stem cell-based treatments for v...
Researchers found distinct monocyte gene expression signatures in RA patients with different responses to anti-TNF therapy, potentially leading to personalized treatment approaches.
Researchers identified three gene expression signatures that can help rheumatologists predict which patients are more likely to respond to certain therapies. The findings could lead to higher response rates and reduced likelihood of ineffective treatment, ultimately improving patient care.
Researchers have discovered a new high-risk subtype of acute lymphoblastic leukemia (ALL) characterized by chromosomal rearrangements involving the MEF2D gene. A possible targeted therapy, panobinostat, has been shown to stop proliferation of human leukemic cells with this rearrangement.
Researchers develop domain-swapped T cell receptors that increase the safety of TCR gene therapy by preventing mispairing between introduced and resident chains. These new receptors retain functional domains and prevent autoimmune disease in mice and human cells, offering a promising tool for cancer treatment.
A WSU researcher has developed a modified viral vector that reduces the risk of cancer cells and can be used for multiple blood diseases. The new delivery system is being translated into a stem cell gene therapy to treat a life-threatening immunodeficiency in newborns.
Researchers at the University of Manchester have identified two gene mutations that trigger a rare retinal disease causing blindness in males. These findings offer promising insights into the development of gene therapy and potential treatments for X-linked Retinoschisis, a genetic disease leading to macular degeneration.
A study has discovered a crucial part of the genetic machinery that switches on the Neuroglobin gene, which is associated with protecting the brain and reducing severity of damage due to stroke and Alzheimer's disease. The research opens up new opportunities for treating AD using gene therapy.