Rett syndrome, a rare genetic disorder that causes mental retardation, autism, and physical deformities, has no cure. However, a small clinical trial has found that a growth factor known as IGF1 can help treat some symptoms ...
Jun 23, 2014
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Vosoritide's first global Phase II study showed an average increased growth rate of 1.8 cm per year in children with hypochondroplasia, a genetic cause of short stature in children, according to researchers from Children's ...
Apr 12, 2024
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14
Stanford Medicine investigators and their colleagues sifted through a jumble of genes implicated in neurodevelopmental disorders and identified dozens of disparate troublemakers with similar effects.
Sep 27, 2023
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The brain floats in a sea of fluid that cushions it against injury, supplies it with nutrients and carries away waste. Disruptions to the normal ebb and flow of the fluid have been linked to neurological conditions including ...
Feb 9, 2023
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The locus coeruleus is among the first brain regions to degenerate in Alzheimer's and Parkinson's disease, physicians and scientists have known. But why this area is so vulnerable is less understood.
Sep 1, 2022
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Investigators have discovered a new method to determine whether individual genetic variants in the epilepsy-associated gene SZT2 cause a neurodevelopmental disorder, according to a Northwestern Medicine study published in ...
Jun 7, 2022
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People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign—meaning they don't spread to other parts of the body and are not considered life-threatening—but ...
May 19, 2022
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Cells translate their genetic material at rapid rates with exquisite precision to reproduce, repair damage or even combat disease. But the process can deregulate and give rise to disease. Byproducts of errant processes can ...
Aug 17, 2021
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During human evolution, the size of the brain increased, especially in a particular part called the neocortex. The neocortex enables us to speak, dream and think. In search of the causes underlying neocortex expansion, researchers ...
Oct 23, 2020
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165
Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
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