Scientists at Cold Spring Harbor Laboratory (CSHL) have identified a therapeutic RNA molecule that corrects the error in genetic processing that leads to familial dysautonomia, a rare inherited neurodegenerative disorder. ...
Apr 30, 2018
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Dear Mayo Clinic: My husband and I want to expand our family and are trying to get pregnant with our first baby. I've read about family planning couples can do before conceiving and learned about carrier screening. We don't ...
Oct 19, 2023
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A research team at Cold Spring Harbor Laboratory (CSHL) has used a recently developed technology they call TSUNAMI to create the first animal model of the adult-onset version of spinal muscular atrophy (SMA), a devastating ...
Sep 9, 2013
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New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)—a genetic disorder characterized by weakness and wasting ...
Jun 8, 2022
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Alternative splicing, a clever way a cell generates many different variations of messenger RNAs—single-stranded RNAs involved in protein synthesis—and proteins from the same stretch of DNA, plays an important role in ...
Jun 20, 2023
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Modulating the activity of a kinase in motor neurons may help mitigate mitochondrial defects and other symptoms of spinal muscular atrophy, offering a new therapeutic avenue for the devastating disease, according to a Northwestern ...
Dec 5, 2023
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I began writing about genetics decades ago, and the best thing about getting older is witnessing the development of targeted treatments for single-gene diseases that I never thought would happen. But it is happening, for ...
Oct 1, 2015
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(HealthDay)—The American College of Obstetricians and Gynecologists (ACOG) recommends use of carrier screening for all women, according to two Committee Opinions published in the March issue of Obstetrics & Gynecology.
Feb 27, 2017
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To make up for insufficient amounts of SMN protein, the cause of the inherited neuromuscular disease spinal muscular atrophy (SMA), researchers have successfully delivered a replacement SMN1 gene directly to the spinal cords ...
May 22, 2014
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A recent study led by scientists from the National University of Singapore (NUS) opens a possible new route for treatment of Spinal Muscular Atrophy (SMA), a devastating disease that is the most common genetic cause of infant ...
Dec 18, 2013
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