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 found correlations between MIF and DDT levels with patient survival outcomes in melanoma patients. Higher CD74:MIF and CD74:DDT levels were associated with improved survival and enrichment of inflammatory markers.
Researchers developed a triple-adeno-associated virus vector system to deliver full-length dystrophin protein into muscles, restoring muscle health and strength in mice models with Duchenne muscular dystrophy. The approach has shown promise for treating patients with the genetic disorder.
Researchers at the Mayo Clinic Comprehensive Cancer Center discovered a new treatment approach that improved survival rates for patients with B-cell precursor leukemia by nearly 60%. The study found that adding blinatumomab to chemotherapy reduced the risk of leukemia recurrence and death.
A recent study found that 'gene misbehaviour' is a common phenomenon in the healthy human population, with over half of inactive genes showing misexpression. The researchers used advanced techniques to analyze blood samples from 4,568 healthy individuals and identified mechanisms behind these gene activity errors.
A new study published in Nucleic Acid Therapeutics found that siRNA reduces huntingtin mRNA levels in the cytoplasm but not in the nucleus of mouse brains, suggesting a limitation in its effectiveness for treating Huntington's disease. The research highlights the importance of understanding the structure and function of nuclear RNA to ...
Researchers found that subretinal adeno-associated virus 8 injections trigger proinflammatory T-cell responses, but co-injection of immunodominant peptides can modulate the immune system. This study suggests a new approach to AAV gene therapy for retinal diseases.
Researchers at UW Medicine have developed a new gene therapy that delivers protein packets to replace defective genes in muscles, halting disease progression and reversing pathology. The therapy uses adeno-associated viral vectors and aims to restore normal muscle health, with human trials expected to begin in two years.
Researchers describe redundant innate immune pathways triggered by AAV vectors, including sensing of viral genome and cytoplasmic DNA sensors. The study highlights the need to understand complex biologic mechanisms underlying adverse reactions to AAV vectors in human gene therapy trials.
Researchers at Chiba University have discovered a new mechanism of ILC2 immune cell development, which may exacerbate allergic diseases. The study found that the induction of GATA3 expression by an ILC2-specific super-enhancer is essential for ILC2 differentiation.
Researchers at UNC School of Medicine have identified a small molecule that could potentially treat Angelman syndrome by 'turning on' the dormant paternally-inherited UBE3A gene copy. The compound, (S)-PHA533533, has shown excellent uptake in developing brains and bioavailability, making it a promising lead for gene therapy.
A team of Penn State researchers has created a modular genetic circuit that turns cancer cells into a 'Trojan horse,' causing them to self-destruct and kill nearby drug-resistant cancer cells. The circuit outsmarts resistance and eliminates it before the cancer cells can evolve.
A groundbreaking clinical trial has shown that gene therapy can halt the progression of spastic paraplegia type 50 (SPG50) in a young boy. The treatment, delivered via spinal fluid, eliminated serious side effects and showed potential signs of improvement.
Researchers found that inhibiting the AGTR1 receptor with losartan disrupted cancer growth, slowed development and prolonged survival in mice. This targeted gene therapy also protected the heart against chemotherapy-induced cardiotoxicity.
A first-of-its-kind study compared preventative therapy efficacy between two groups: gene therapy alone and in combination with risdiplam or nusinersen. Dual therapy showed promise in independent sitting outcomes, but not in walking age or muscle disease progression prevention.
Researchers at MD Anderson Cancer Center have identified a small molecule compound that restores physiological levels of telomerase reverse transcriptase (TERT), reducing cellular senescence and tissue inflammation. TERT restoration also spurred new neuron formation with improved memory and enhanced neuromuscular function.
Researchers at Francis Crick Institute develop a new genetic therapy that silences mutated NRAS gene in cells with congenital melanocytic naevus syndrome (CMN), potentially reversing debilitating giant moles. The treatment has shown promising results in mice and could be used to reduce cancer risk in affected children and adults.
Researchers developed a therapeutic approach to replace the missing protein in the brain, reducing symptoms of frontotemporal dementia. The approach uses modified viruses to produce progranulin, which is then released into the bloodstream and crosses the blood-brain barrier, rescuing pathologies in mouse models.
Scientists discover Epstein-Barr virus alters gene regulation in nasopharyngeal cancer cells, leading to rapid tumour growth. The study offers new insights into the link between EBV and NPC, shedding light on intricate processes underlying disease progression.
A novel gene therapy has restored hearing function in five children with DFNB9 who were treated in both ears, demonstrating additional benefits compared to a previous trial. The treatment also improved speech perception and sound localization abilities, including the ability to appreciate music.
A team of researchers from Xi'an Jiaotong-Liverpool University has engineered a short sequence of artificial DNA to target the mutant protein p53-R175H, linked to lung, colorectal, and breast cancers. The new molecule, dp53m, inhibits cancer cell growth and increases sensitivity to chemotherapy agent cisplatin.
Researchers at Edith Cowan University have found a significant genetic connection between Type 2 Diabetes and certain gut disorders, which could lead to more effective therapies. The study uncovered shared biological origins with Type 2 Diabetes among gut conditions like stomach ulcers and irritable bowel syndrome.
The study highlights the importance of protease-activated receptors (PARs) in cancer growth and development, with PH-binding motifs identified as a key platform for drug design. The researchers suggest that targeting PARs could provide an alternative to current oncogenic pathways.
Researchers discuss the benefits of CAR-T therapy in treating B-cell lineage acute lymphoblastic leukemia (B-ALL) in children. The therapy, tisagenlecleucel, has shown promising results and is now priced at $508,250, a more manageable cost compared to other gene therapies.
Researchers have engineered an AAV that efficiently crosses the blood-brain barrier and delivers genes to the brain in humanized mice. This could lead to new treatments for severe genetic brain disorders with no current cures or few treatment options.
A Japanese research team used machine-learning-driven modular assembly systems to create a more efficient gene editing tool. The study demonstrated an improvement in genome editing efficiency by 5%, showcasing the effectiveness of engineering zinc-finger nucleases through structural modeling.
A new study shows that gene therapy delivered by nanocarriers can repair damaged discs and reduce signs of back pain in mice. The treatment, which uses naturally derived nanocarriers to deliver genetic material for a protein key to tissue development, restored structural integrity and function to degenerated discs.
A study utilizing RNA-Seq and single-cell RNA-Seq data identified key transposable elements (TEs) linked to myocarditis. These findings reveal a significant role for TEs in modulating immune responses, providing new insights into cardiomyopathy's pathogenesis.
The Ottawa Hospital is receiving a $59 million grant to boost Canada's capacity for life-saving biotherapeutics, including vaccines, gene therapies, and cell therapies. The funding will support the construction and operation of a world-class biomanufacturing facility at its new campus.
Researchers at the University of Trento have identified a collection of molecular tools to rewrite DNA, including a compact Cas9 enzyme from the human microbiome. The discovery has potential for gene therapy applications and could speed up the development of therapies for genetic diseases.
Researchers at UW–Madison developed a method using short electric pulses to increase gene therapy material uptake in liver cells, reducing dosage needed. The technique could help treat genetic diseases like cystic fibrosis and sickle-cell disease.
Researchers identified a spectrum of effects on sodium channel function due to SCN2A variants, with hyperactive channels linked to early seizure onset and underactive channels associated with autism. The study provides insights into the relationship between genetic changes, disease severity, and age of seizure onset.
A phase 3 clinical trial found that 96.7% of patients did not experience severe vaso-occlusive crises, and all remained hospitalization-free for at least one year after receiving the gene therapy CASGEVY.
Researchers develop gene therapy to delay progression of metachromatic leukodystrophy by correcting enzyme deficiency and reducing neuroinflammation. Successful treatment has been demonstrated in mice, paving the way for potential human clinical trials.
Researchers have identified a novel protein FOXF1 that stabilizes blood vessels inside lung tumors, decreasing intertumoral hypoxia and preventing lung cancer metastases. Increasing levels of FOXF1 or FZD4 shows promise to improve therapeutic outcomes in lung cancer patients.
A study in the Journal of Neuromuscular Diseases found that disease-modifying gene therapy treatments improve motor function, bulbar function, and pulmonary function in infants with spinal muscular atrophy. The real-world data from a large patient registry confirms improved safety profiles for early treatment opportunities.
Researchers have discovered a new immunotherapy approach to overcome resistant leukemia by targeting the mutated TP53 gene. Combining pharmacological therapies with genetically engineered CAR T-cells increases effectiveness against cancer cells, offering promising strategies for patients with resistant disease.
A clinical trial at NIH demonstrated that experimental gene therapy slowed loss of motor function in patients with giant axonal neuropathy, a fatal childhood disease. The treatment also showed signs of regeneration in sensory nerves, offering new hope for those affected.
Scientists have successfully tested novel gene therapies in a whole human liver, opening up new avenues for treating life-threatening inherited diseases. The use of a normothermic liver perfusion system enables accurate testing of gene therapeutics directly in the clinical target organ.
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
Scientists from the University of Cologne developed threofuranosyl nucleic acid (TNA) with a new base pair, offering improved stability and function compared to natural DNA and RNA. This breakthrough could enable targeted drug delivery, diagnostics, and recognition of viral proteins or biomarkers.
Researchers have discovered two genetic variants associated with generalized pustular psoriasis (GPP), a rare and serious condition characterized by widespread skin lesions and inflammation. These variants, found in the MEFV gene, may hold promise for new diagnostic and therapeutic approaches to GPP.
Researchers at the University of Cincinnati Cancer Center have identified a new protein called p47 that helps prevent breast cancer metastasis. The study found that lower p47 expression was correlated with higher breast cancer metastasis, and that increasing p47 function could potentially lead to new therapies.
UCSF scientists discover delivering therapeutic molecules to amniotic fluid can effectively treat Angelman syndrome and other neurological conditions. The treatment uses antisense oligonucleotides, which can alter gene expression, and has shown improved motor function and learning outcomes in mice.
Recent clinical trials highlight a new challenge in AAV gene transfer: complement system activation, which may contribute to adverse events and immune priming. The article provides a comprehensive review of the complement cascade and its interactions with AAV vectors.
A new approach to fighting HIV has been developed using RNA, specifically small interfering RNAs (siRNA), which regulate gene expression in cells. This nanomedicine was shown to reduce HIV replication by 73% and is intended for vaginal application to prevent sexual transmission.
A new technique employing a retrotransposon from birds may provide a safer alternative to CRISPR-Cas9 gene editing by inserting genes into a designated 'safe harbor' in the genome. This approach could complement CRISPR technology and enable efficient gene supplementation for hereditary diseases.
Scientists have developed a single-dose genetic medicine that halts the progression of both ALS and frontotemporal dementia in mice. The treatment targets pathological TDP-43 build-ups in brain cells, which may also treat common forms of dementia like Alzheimer's disease.
A recent study has uncovered 145 genes crucial for genome stability, shedding light on genetic factors influencing human health over a lifespan. The research highlights the potential of SIRT inhibitors as a therapeutic pathway for cohesinopathies and other genomic disorders.
A study published in Oncotarget has identified specific mutational and therapeutic landscapes of pancreatic cancer in the Russian population. By applying machine learning models to full exome individual data, researchers received personalized recommendations for targeted treatment options for each clinical case.
Researchers found elevated PROX1 levels in advanced colon adenocarcinoma, correlating with poor prognosis. PROX1 modulates CRC cell behavior, influencing invasiveness and survival outcomes. The combined PROX1/α-SMA gene set emerges as a potential CRC prognostic marker.
Researchers identified senescence-related tumor microenvironment genes associated with poor prognosis, genetic alterations, and reduced responsiveness to immunotherapy in HNSC. The study highlights the importance of precision medicine approaches for personalized treatment.
A novel cyclic thiosulfinate cross-linker has favorable drug-like properties and can stabilize the SOD1 dimer in vivo, indicating potential therapeutic benefits for fALS. This study uses a mouse model to evaluate protein cross-linking as a strategy to treat SOD1 variants associated with familial ALS.
Researchers have found that a gene-based therapy targeting plakophilin-2 can interrupt the progression of arrhythmogenic right ventricular cardiomyopathy, a rare inherited disorder. The treatment reduced episodes of arrhythmia and slowed the deterioration of the heart's walls in mice.
Researchers used fMRI to assess brain responses to lights stimulating only cone cells in dogs with different types of retinal diseases. The study found that gene augmentation therapy restored response in cortex to black and white stimulation, making this disease a promising one for photoreceptor cell replacement treatment.
A novel gene therapy has been shown to restore hearing function in six children with DFNB9, a form of autosomal recessive deafness. The treatment, which uses an adeno-associated virus carrying a version of the human OTOF gene, demonstrated significant improvements in speech perception and ability to conduct normal conversation.
A cross-sectional study of over 6,500 adults aged 65+ found that older adults spent an average of 20.7 days per year receiving healthcare outside the home. The 'health care contact days' metric can help evaluate care and identify areas for improvement, such as coordinating tests with visits and reducing Friday office visits.
Researchers identified genetic variants that predict response to treatment for preterm birth, a condition affecting one in 10 infants. High levels of mutations in certain genes are associated with lower response rates, suggesting a precision framework for future drug development.
A team of researchers identified a CTP-dependent transcription factor controlling Shigella virulence gene expression, providing new avenues for combating this and related bacterial pathogens. The discovery sheds light on the molecular mechanisms underlying bacterial pathogenesis.
Researchers identified key characteristics associated with improved CAR T outcomes in large B cell lymphoma, including a B-cell gene expression signature and high CD19 protein expression. Patients who received axicabtagene ciloleucel had better event-free survival compared to those receiving standard therapy.