For patients suffering from epidermolysis bullosa (EB), a hereditary skin disease, even a gentle touch is extremely painful. Now Dr. Li-Yang Chiang, Dr. Kate Poole and Professor Gary R. Lewin of the Max Delbruck Center for ...
Jul 8, 2011
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A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.
Sep 1, 2011
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Mitochondrial dysfunction is the root cause of many diseases that are bewildering in their variety and complexity. They include rare genetic disorders in children, some forms of heart disease, and most likely many cases of ...
Jan 26, 2017
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A three molecule complex may be a target for treating Huntington's disease, a genetic disorder affecting the brain. This finding by an international research team including scientists from the German Center for Neurodegenerative ...
Feb 26, 2013
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Scientists at the University of Massachusetts Medical School are the first to establish that a naturally occurring X chromosome "off switch" can be rerouted to neutralize the extra chromosome responsible for trisomy 21, also ...
Jul 17, 2013
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Scientists tried creating a laboratory model of idiopathic torsion dystonia, a neurological condition marked by uncontrolled movements, particularly twisting and abnormal postures. But the genetic defect that causes dystonia ...
Apr 12, 2011
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When should patients and family members undergo genetic assessment for a heart condition? Find out in an international consensus document published in EP Europace, a journal of the European Society of Cardiology (ESC) and ...
Apr 4, 2022
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UCLA researchers have identified a compound that can reproduce the effect of exercise in muscle cells in mice. The findings are published in the journal Cell Reports Medicine.
Oct 21, 2020
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The University of Alabama at Birmingham has taken a significant step toward making sophisticated cell therapy a part of patient care with its acquisition of the first cell-processing workstation (CPWS) from SANYO North America ...
Jun 8, 2011
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Fifteen new genetic regions associated with coronary artery disease have been identified by a large, international consortium of scientists—including researchers at the Stanford University School of Medicine—taking a ...
Dec 2, 2012
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