Researchers at the National Institutes of Health and their colleagues have found that a toxic protein made by the body called DUX4 may be the cause of two very different rare genetic disorders. For patients who have facioscapulohumeral ...
Feb 17, 2023
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A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.
Sep 15, 2017
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Researchers from the Department of Molecular Biology and Genetics at Koc University in Turkey and the Pole of Endocrinology, Diabetology and Nutrition, Institute of Experimental and Clinical Research at Université Catholique ...
A new study published in the journal Nature Communications describes a breakthrough in research related to facioscapulohumeral muscular dystrophy (FSHD). The debilitating genetic disease - which has no approved treatment ...
Sep 15, 2017
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Australian researchers have made a critical discovery about a gene involved in muscular dystrophy that could lead to future therapies for the currently untreatable disease.
Jun 17, 2015
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(Medical Xpress)—Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their ...
A fundamental discovery about a driver of healthy development in embryos could rewrite our understanding of what can be inherited from our parents and how their life experiences may shape us.
Aug 11, 2022
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Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent dominantly inherited muscular dystrophy in the world. To date, there are no pharmacologic treatments available for the more than 850,000 people affected ...
Nov 16, 2018
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Researchers have designed a potential new treatment for one of the most common forms of muscular dystrophy, according to a new study published today in the Proceedings of the National Academy of Sciences.
Jun 30, 2020
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Facioscapulohumeral muscular dystrophy (FSHD) is caused by aberrant expression of the DUX4 gene in skeletal muscles. Researchers at Nationwide Children's Hospital have recently demonstrated that an endogenous human microRNA, ...
Dec 14, 2021
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