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 defective degradation enzyme leads to the accumulation of gangliosides, causing deterioration in patients with storage diseases. Researchers have discovered that genetic disorders can trigger a cascade of consequential damages.
Researchers have successfully developed and tested a gene therapy approach using CRISPR-Cas9 technology to treat Steinert's myotonic dystrophy, a devastating neuromuscular disease. The study showed that the expanded CTG triplet repeat in the DMPK gene was 'cut' and removed from the gene, reducing toxic RNA aggregates in muscle cells.
A recent study by the University of Granada's Tissue Engineering Research Group has found that resident hospital doctors specialising in Family Medicine lack sufficient training on advanced therapies. The researchers also discovered a positive attitude among these doctors towards the use and application of such therapies.
A new roadmap by the Engineering Biology Research Consortium outlines potential breakthroughs in synthetic biology, including genetically modified crops, disease-fighting microbes, and novel biofuels. The report aims to secure federal support for this field to address societal challenges and fuel economic growth.
A team of researchers delivered a therapeutic gene to the spinal canal of infant rhesus monkeys, resulting in sustained expression of the alpha-I-iduronidase enzyme. The study's findings suggest a promising approach for treating severe forms of neuropathic storage diseases.
Scientists at ETH Zurich found that a cellular mechanism called SCF detects and targets alpha-synuclein fibrils for breakdown. This mechanism could be used to develop therapies for neurodegenerative diseases like Parkinson's. Gene therapy and stem cell transplantation may also offer new options.
Researchers have identified a potential therapy for limb girdle muscular dystrophy using lithium to improve muscle size and strength in mice. The findings suggest that inhibiting the protein GSK3beta with lithium chloride can lead to significant improvements in mouse strength and muscle mass.
A new statistical machine learning framework has been developed to reconstruct the original network after a viral attack, which is crucial for designing new medicines or gene therapies against viruses and diseases like cancer. The framework actively incorporates the influence and causality of the attack into its learning algorithm.
The Children's Tumor Foundation has launched the NF2 Accelerator Initiative, a three-year research effort to bring active NF2 treatments to patients. The initiative focuses on expanding the clinical drug pipeline, improving drug selection through innovative testing models, and developing gene therapy options.
Scientists from Sanford Burnham Prebys have revealed a new mechanism for ALS' pathogenesis and suggest that modulating membralin has potential in ALS therapy. A membralin-boosting gene therapy extended the survival of mice with ALS-like symptoms, providing an important new perspective into the disease.
A new clinical trial at IU School of Medicine shows that Burosumab significantly alleviates symptoms of X-linked hypophosphatemia, a phosphate-wasting disease causing rickets and osteomalacia. The study found substantial healing in 72% of children treated with Burosumab versus 6% in the conventional therapy group.
A study of 429 men with metastatic castration-resistant prostate cancer found correlations between specific genetic alterations and clinical outcomes. The loss of the RB1 tumor suppressor gene was significantly correlated with poor survival in patients treated with androgen receptor signaling inhibitors.
Scientists at CU Anschutz Medical Campus identified a rare genetic mutation causing an immune dysregulation syndrome, characterized by recurrent infections and autoimmune complications. The discovery provides unique insights into cell biology and suggests the possibility of treating the disease with gene therapy.
Researchers have developed an algorithm that can predict synthetic lethal interactions between genes, which could lead to more targeted and effective cancer treatments. The Slant algorithm uses data from existing protein networks to identify patterns associated with these interactions.
A new experimental therapy has demonstrated potential in slowing the progression of a genetic form of ALS by reducing SOD1 protein levels. Patients who received the treatment showed improved breathing capacity, muscle strength, and functional abilities compared to those given a placebo.
A researcher at Oregon State University has received a five-year, $3.3 million grant to develop a way for cystic fibrosis patients to get molecular treatment via an inhaler. The treatment would work on every patient, regardless of their genetic mutation, and could vastly improve existing therapeutic methods.
Scientists discovered that sex and diet substantially affect the proteome, a collection of proteins in an animal cell. Understanding these interactions may lead to personalized treatments for humans. The study analyzed large public datasets on human and mouse proteotypes, diet, and genetic status.
A new study compares the effectiveness and cost of gene therapy to allogeneic hematopoietic stem cell transplantation (HSCT) in patients with major beta-thalassemia. Gene therapy was found to be associated with fewer complications and hospital admissions over 2 years, but was nearly twice as costly.
A small clinical trial shows that gene therapy can safely correct the immune systems of infants with X-SCID, a rare life-threatening disorder. The treatment involves inserting a normal copy of the IL2RG gene into the patient's blood-forming stem cells.
Infants with X-linked severe combined immunodeficiency (SCID-X1) have been cured of the disease using gene therapy developed at St. Jude Children's Research Hospital. The treatment produced functional immune cells, including T cells and B cells, in all but one patient.
Researchers found that Hirschsprung disease shares common genetic mechanisms with complex disorders like schizophrenia and autism. The study identified key genes, cellular mechanisms, and molecular targets for personalized treatment.
Researchers at the University of Washington tested the impact of water disinfection methods on antibiotic resistance genes. Three disinfectant methods showed greater than 90% degradation or deactivation, while two others had little to no effect.
Researchers at TGen identified AKR1B10 as a potential biomarker for liver cancer diagnosis and prognosis. The enzyme has a paradoxical role in HCC development, where its overexpression indicates cancer presence while suppression may slow progression.
Researchers at Purdue University discovered a molecule called heparan sulfate that can prevent viruses from escaping cells, raising questions about the safety of gene therapy delivery. The study highlights the need to consider how engineered viruses will exit cells to avoid unintended consequences.
A study found that breast cancer patients who don't respond to targeted therapy have distinct patterns of epigenetic modifications compared to those who do respond. The researchers identified 879 genes with higher methylation levels in resistant patients, suggesting potential targets for new treatments.
Researchers develop new sequencing technologies to identify genetic causes of Opitz C Syndrome, which can cause significant clinical variability. The study's findings suggest that precise molecular diagnosis is crucial for therapeutic intervention and prenatal counseling.
Dr. Roger E. Stevenson, a senior clinical and research geneticist at the Greenwood Genetic Center, has received the 2019 ACMG Foundation David L. Rimoin Lifetime Achievement Award. The award recognizes his vision in founding the center, groundbreaking research on X-linked intellectual disability, and leadership in establishing programs...
Researchers found that some patients' skin areas return to normal as they age, eliminating mutant loricrin genes through somatic recombination. This natural process could lead to a new treatment method for genetic diseases like loricin keratoderma.
Researchers have successfully targeted the tumor biomarker EpCAM with chimeric antigen receptor-modified T cells, significantly delaying tumor growth in mice. The study suggests that EpCAM could be a promising target for cancer immunotherapy in various tumor types.
Researchers from the CNIO Hereditary Endocrine Cancer Group have identified a new gene, DLST, involved in the development of paragangliomas and phaeochromocytomas. Mutations in this gene were found to be directly linked to the disease, providing a potential breakthrough in diagnosis and treatment.
Researchers have identified two new genes, ING3 and EPDR1, that affect bone-forming cells and may lead to stronger bone mineral density and fracture prevention. The study's innovative use of three-dimensional genomic geography analysis could also aid in the discovery of new treatments for other genetic diseases.
Researchers identified a common oncogene, KRAS, as a key player in immune checkpoint blockade therapy resistance in metastatic colorectal cancer. Restoring IRF2 expression or inhibiting MDSCs through CXCL3-CXCR2 signaling increased CRC sensitivity to ICB therapy.
Researchers at UC Berkeley have developed a therapy that can improve and prolong sight in those suffering from vision loss by dampening noise generated by nerve cells in the eye. The treatment has shown promising results in mice with a genetic condition, retinitis pigmentosa.
A multi-center study by MD Anderson Cancer Center reveals that a liquid biopsy test, Guardant360, is comparable to standard tissue biopsies in detecting guideline-recommended biomarkers for advanced NSCLC. The test identified four mutations for which FDA-approved drugs exist and offers faster turn-around time.
A new study found that many commercial cell lines used for laboratory studies are mislabeled as minority ancestry, leading to a lack of diversity and hindering the development of precision medicine for underrepresented populations. Researchers call for more diverse biospecimens to be used in scientific investigations.
The RESTORE Health initiative aims to develop advanced therapies for curative treatments, backed by an international and interdisciplinary community. The consortium plans to invest up to €1 billion in new research projects over the long term.
Researchers identified a genetic mutation in the PKD1L1 gene linked to Biliary atresia, a devastating condition that affects many children. The study found five patients with two copies of mutations and three additional patients with one mutation, providing new insights into the cause of the disease.
The partnership aims to advance genetic diagnosis and therapy for patients with muscle wasting neuromuscular diseases, including motor neurone disease and muscular dystrophy. AIIMS will launch its first patient trials, providing insight into the different genes present in India's populations.
Scientists have successfully restored auditory synapse function and hearing thresholds to a near-normal level in adult mice with DFNB9 deafness. The breakthrough uses an AAV-based gene therapy approach that can be used to produce otoferlin and durably correct the profound deafness phenotype in mice.
Dr. Carl June is being honored by ACGT for his lifesaving CAR T-cell treatment, which was the first-ever FDA-approved gene therapy for cancer. The funding from ACGT sustained Dr. June's research, allowing it to continue and ultimately lead to promising treatments.
A recent study by CU Anschutz researchers has implicated a complex unexamined gene family in autism severity, suggesting that this underexplored area of the human genome may hold key insights into the disorder and potentially lead to new clinical therapies.
Recent advances in understanding Parkinson's disease have identified promising developments to slow or stop its progression. Researchers explore new therapeutic targets, targeting non-motor features of the disease, and repurposing drugs for their potential disease-modifying properties.
Researchers found that silencing microRNA-132 improved insulin secretion and reduced blood glucose in mice and human islet cells. The study suggests antagomir-132 as a potential treatment approach for type 2 diabetes.
Newer versions of gene therapy cassettes deliver better performance, increasing muscle strength and protecting against contraction-induced injuries in animal models. The treatment, micro-dystrophin, has been restructured to enhance its functionality.
Researchers have discovered a method to 'turn off' mutated melanoma, developing a promising therapeutic option for NRAS mutant cancer. A specific inhibitor targeting the STK19 gene has been designed to prevent NRAS activation and development of NRAS mutant melanoma in an experimental model.
Researchers pinpointed the premelanosome protein (PMEL) gene as the cause of pigmentary glaucoma, a condition that affects 150,000 people in North America. The study found that mutations in this gene lead to vision loss and blindness if left untreated.
Nanoscope Technologies has received multiple NIH grants to further develop its gene delivery and optogenetics platforms for treating and monitoring retinal degenerative diseases, such as Age-related macular degeneration. The company aims to improve visual acuity in patients with these conditions through targeted retinal stimulation.
Researchers discovered that a muscle protein called LIM protein (MLP) can promote nerve healing by stabilizing structures in growth cones. Blocking or suppressing MLP's function reduces nerve cells' ability to grow axons.
Researchers identified specific genes associated with AMD using DNA methylation profiling of human donor eyes. The condition affects central vision and has no treatment for 85% of patients. New targets for therapy may help address the unmet clinical need for AMD treatments.
Researchers are analyzing the genes of hundreds of females with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome to identify genetic causes. The study aims to improve genetic counseling and potential treatment for this condition, which affects about 7-10% of women.
Researchers have made a breakthrough in treating nerve damage by combining neurosurgical repair with gene therapy, which stimulates the survival of nerve cells and regeneration of nerve fibers. The discovery is an important step towards developing a new treatment for people with nerve damage.
Scientists have developed a gene therapy that blocks axon destruction in mice, suggesting a therapeutic strategy to prevent the loss of peripheral nerves in multiple conditions. This breakthrough could help prevent peripheral neuropathy, a disease affecting 20 million people in the US, and other neurodegenerative disorders.
Recent review highlights latest advances in precise nanomedicine for intelligent cancer therapy, exploring metallofullerenol nanoparticles, supramolecular chemo-therapy, and DNA nanorobots. These strategies aim to improve cancer imaging and therapeutic applications while understanding nanotoxicity.
Scientists at Harvard University have identified a potential biomarker and drug target for amyotrophic lateral sclerosis (ALS), a neurological disease that is difficult to diagnose and treat. The gene STMN2 was found to be involved in the loss of motor neurons, which leads to progressive paralysis.
Researchers at WSU and PNNL developed biologically inspired materials that deliver therapeutic genes into tumor cells without causing toxic effects. The flower-like particle is about 150 nanometers in size and made of peptoids, which work well in biological systems.
A study published in Nature Neuroscience reveals that defective immune cells in the brain play a key role in Alzheimer's disease. Activating a specific gene, TREM2, can help prevent toxic deposits, but over-activation may have negative consequences.
Researchers have discovered a new population of immune cells that respond to immunotherapy treatment, as well as a critical molecular factor required for the therapy's success. The study highlights the importance of early-stage T cells and the need for further understanding of how checkpoint blockade therapies work.
A new study found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and identifying the responsible gene has a direct impact on treatment. DNA testing reclassified the cause of kidney disease in 1 out of 5 individuals with a genetic diagnosis.
Recent advancements in Parkinson's disease treatment hold promise for patients, with gene therapy approaches showing potential, and brain stimulation techniques also being explored. Despite progress, hurdles persist, and understanding the reasons for treatment failure is crucial to overcoming the disease.
Researchers at Kiel University will develop next-generation gene therapies for cardiovascular disease using AAV vectors, aiming to improve treatment approaches and reduce vascular inflammation in conditions like atherosclerosis. The project aims to translate experimental treatments into clinical applications.