Articles tagged with Spinal Muscular Atrophy
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A study by the Society for Maternal-Fetal Medicine found that widespread screening for spinal muscular atrophy is not cost-effective due to a high cost per case prevented. The study suggests that prenatal screening may be more cost-effective in high-risk populations with a family history of the disease.
A team of researchers has identified a promising drug candidate for treating spinal muscular atrophy (SMA), a genetic disease that affects approximately 1 in 6,000 babies born in the US. The tetracycline-like compound boosts SMN protein levels by fixing an RNA splicing error, resulting in increased functional protein production.
Researchers have discovered a way to produce working SMN proteins using the SMN2 gene, potentially treating Spinal Muscular Atrophy. The technology could also be applied to other diseases caused by aberrant gene splicing.
Researchers analyzed human muscle tissue from SMA patients to understand transcriptional changes. The study found distinct expression signatures for severe and mild forms of SMA, revealing different phases of atrophy and hypertrophy in muscles affected by each form.
Researchers have discovered a new therapeutic target that improves deteriorating skeletal muscle tissue caused by SMA. The therapy enhances muscle strength, improves gross motor skills, and increases the lifespan in a SMA model. By inhibiting myostatin, a protein that limits muscle growth, the treatment reduces symptoms of SMA.
Scientists have successfully recreated the hallmarks of a genetic disorder in a lab dish using patient-derived induced pluripotent stem cells, which can now be used to study and develop new therapies for genetic diseases. The disease-specific cells retain the same traits as those affected in patients with spinal muscular atrophy, allow...
Researchers have developed a trans-splicing system that uses RNA to inactivate genes and improve efficiency in correcting RNA sequences. This approach enhances the likelihood of successful treatment outcomes for spinal muscular atrophy, a neurodegenerative disorder that affects 1 in 6,000 live births.
The American College of Medical Genetics recommends offering genetic test for SMA to all couples, regardless of family history. The goal is to identify carriers and provide early testing options, while ensuring informed consent and access to reproductive resources.
Researchers have found that farnesylated progerin, not just its non-farnesylated form, can cause symptoms of disease in individuals with Hutchinson-Gilford progeria syndrome (HGPS). Meanwhile, a new study suggests that neural stem cell transplantation may offer hope for treating spinal muscular atrophy (SMA) by improving the survival a...
Researchers have successfully used stem cell transplantation to improve the symptoms of a mouse model with spinal muscular atrophy (SMA), a genetic disorder that causes muscle weakness and degeneration. The treatment increased the survival and function of motor neurons, leading to improved muscular function and lifespan in treated mice.
Researchers found that reduced SMN protein levels impair the biochemical balance needed to make snRNP complexes for splicing RNA, producing abnormal mRNAs in various tissues. This discovery suggests that spinal muscular atrophy is a general disease of splicing that can affect all cell types.
Researchers have induced cells to replenish the protein deficient in spinal muscular atrophy (SMA) by activating an existing, slightly modified copy of the mutant gene. Alternative splicing compensates for the missing gene, holding out hope for one day successfully treating this often-fatal disease.
Researchers at the University of Delaware have discovered a novel technique to repair the defective gene that causes spinal muscular atrophy (SMA). The technique has shown promising results in tests in mice and is poised for development by OrphageniX Inc. This could potentially alleviate symptoms and improve quality of life for patients.
Researchers at CSHL have successfully corrected an mRNA splicing defect in SMA patients, using RNA splicing antisense technology. The therapy holds promise for treating the genetic disease, which causes progressive muscle weakness and respiratory failure.
Researchers found that a drug called trichostatin A can increase SMN2 gene activity, improving symptoms and extending survival in SMA mice. Treatment started after symptoms appeared led to a 19% longer lifespan on average.
A study shows that trichostatin A, a hydroxamic acid HDAC inhibitor, increases SMN2 production in both neural tissues and muscles of mice with spinal muscular atrophy, improving survival chances. The treatment attenuates disease symptoms in affected mice.
Researchers found that valproate increased strength and improved function in adult patients with type III/IV spinal muscular atrophy. The study's lead author notes that further trials are needed to establish valproate as a treatment of choice for this condition.
Researchers have developed a drug that increases SMN protein levels in SMA patients, improving their quality of life. Another study shows promise for treating X-linked adrenoleukodystrophy (X-ALD) and Duchenne muscular dystrophy (DMD) with valproate and anti-sense molecules.
Dr. Sahin will investigate the role of SMN protein in motor axon growth and identify potential therapeutic targets for SMA. The award provides support for his research and that of his mentor, Dr. Greenberg.
The SMA Foundation's donation will support the discovery and advancement of novel products to treat SMA, a genetic condition affecting 55,000 people worldwide. Key researchers at Columbia University are working on developing treatments using innovative approaches such as drug discovery and clinical trials.
Researchers at the University of Georgia are developing a stem cell-based drug assay to identify promising treatments for Spinal Muscular Atrophy (SMA), a group of inherited diseases that destroy nerves necessary for voluntary muscle movement. The goal is to accelerate development of safe and effective treatments by late 2007.
Researchers at Columbia University have identified indoprofen as a potential therapeutic candidate for spinal muscular atrophy (SMA), a neurodegenerative disease affecting thousands of children worldwide. The discovery was made using a high-throughput chemical genetics approach and involves the use of a novel analysis tool called SLIMS.
A new study suggests that indoprofen, a previously banned pain reliever, can increase SMN protein production in human fibroblasts by 13 percent. This increase could potentially lessen the severity of symptoms for children with Spinal Muscular Atrophy (SMA), a leading genetic cause of infant and toddler death.
Researchers discovered the GARS gene responsible for Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V, providing insights into neurological diseases. The study may lead to new treatment approaches and a better understanding of peripheral nerve diseases.
Researchers have developed a novel method to correct genetic mutations causing abnormal splicing, potentially treating genetic diseases such as spinal muscular atrophy. This technique uses short RNA oligos to recruit signals that influence splicing, allowing proper gene expression and normal cell development.
Researchers have devised a method to correct RNA splicing defects implicated in breast cancer and spinal muscular atrophy. The technique uses designer molecules that can be programmed to bind to specific pieces of RNA, correcting the splicing error and producing normal messenger RNA.
A new study in mice suggests that increasing copies of the SMN2 gene can produce sufficient amounts of survival motor neuron (SMN) protein, potentially treating human SMA patients. The research found that activating the expression of this gene may provide a strategy for treating human SMA patients.
A team of researchers has identified the normal function of a protein associated with spinal muscular atrophy (SMA), an inherited neuromuscular disease that is the most common genetic cause of infant mortality. The study, published in the journal Cell, also developed cell-based assays to search for potential therapeutic compounds.