Professor Megumu K. Saito and his colleagues have revealed that SMN, a protein involved in spinal muscular atrophy (SMA), promotes the functional maturation of mitochondria by regulating miRNA expression along with MYOD1 ...
Feb 17, 2023
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Newborn screening (NBS) for spinal muscular atrophy (SMA), when combined with early treatment, results in better movement ability in affected children, including the ability to walk, when compared to children who are diagnosed ...
Jan 18, 2023
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A number of new neurologic medications for diseases like multiple sclerosis (MS), Parkinson's disease and migraine have received U.S. Food and Drug Administration (FDA) approval over the past decade. However, with most having ...
Nov 30, 2022
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Adopting some of the strategies behind successfully treating the childhood disease spinal muscular atrophy may enable development of therapies to curb the muscle decline that accompanies aging, new research suggests.
Nov 15, 2022
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Spinal muscular atrophy (SMA), the most common form of neurodegenerative disease in childhood, is caused by defects in the SMN1 gene. SMA patients potentially benefit from three recently approved disease-modifying therapies. ...
Nov 7, 2022
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There are numerous severe, difficult-to-treat monogenetic diseases that are caused by a defect in a single gene—also in the liver. These include the blood coagulation disorders hemophilia A or B or the metabolic disease ...
Oct 26, 2022
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Mutations can be good and bad. Sometimes they help an organism adapt and survive. Other times they are so harmful that an organism can't survive or reproduce. Cold Spring Harbor Laboratory (CSHL) Professor Adam Siepel's team ...
Sep 22, 2022
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Two children who received Zolgensma, a gene therapy produced by Swiss drugmaker Novartis to treat spinal muscular atrophy, have died from liver failure, the company said Friday.
Aug 12, 2022
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Gene therapies aim to cure severe, barely treatable monogentic diseases caused by a defect in a single gene. Medical hopes are correspondingly high. Some gene therapies have already been approved in Europe—for example, ...
Aug 2, 2022
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Antisense oligonucleotides, or ASOs, are molecules that can be used to control protein levels in cells. Cold Spring Harbor Laboratory Professor Adrian Krainer leveraged ASO technology to develop the first FDA-approved treatment ...
Jul 14, 2022
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