Skoltech researchers and their colleagues from Russia and the UK investigated the safety and efficacy of new chemistry in antisense oligonucleotides used to treat spinal muscular atrophy (SMA), a debilitating genetic disease. ...
Jun 29, 2021
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Research led by The Ohio State University Wexner Medical Center to define the natural history of infantile-onset spinal muscular atrophy (SMA) has been "critical" to accelerate the development of effective therapies and hasten ...
Jan 9, 2018
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In splice-switching, an innovative therapeutic approach, targeted oligonucleotide drugs alter the editing of a gene transcript to produce the desired form of a protein. Developments in this rapidly advancing field have already ...
Jul 17, 2014
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Fragile X syndrome is a genetic disorder caused by a mutation in a gene that lies at the tip of the X chromosome. It is linked to autism spectrum disorders. People with fragile X experience a range of symptoms that include ...
Jul 27, 2023
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My name is Antonio and I suffer from spinal muscular atrophy (SMA, for friends). My life expectancy was only a few years when I was born, almost half a century ago. And all because I "got" a rare, neurodegenerative disease, ...
Jun 15, 2023
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Spinal muscular atrophy (SMA) is a terrible disease in which a genetic mutation causes certain nerves responsible for sending signals to muscles to degenerate. This leads to muscles wasting away, and many patients have died ...
May 15, 2024
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Fresh insights into how nerves connect with muscles in the body could aid the development of therapies to treat neurodegenerative diseases.
Oct 30, 2019
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Having a child with a severe genetic condition will heavily impact on a parents' decision to have future prenatal testing, according to a new study co-conducted by Plymouth University.
Jan 20, 2016
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(AP)—Doctors are preparing an emergency one-off stem cell treatment for 2-year-old Venetian girl suffering a severe muscular disease after a judge revoked an order blocking the cure.
Aug 23, 2012
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Ravindra Singh has spent years studying a gene that, when missing or mutated, causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children. His team's latest work will ...
Mar 13, 2024
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