Heart valve defects are a common cause of death in newborns. Scientists at the University of Bonn and the caesar research center have discovered "Creld1" is a key gene for the development of heart valves in mice. The researchers ...
Mar 31, 2014
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In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand's diagnosis allowed doctors to ...
Jan 27, 2021
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A patient and family walk into a doctor's office. They hope that the latest tests will reveal what is causing the patient's illness and end the diagnostic odyssey they have been going through for years. Having an accurate ...
Jul 7, 2020
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An experimental model uses genetics-guided biomechanics and patient-derived stem cells to predict what type of inherited heart defect a child will develop, according to authors of a new study in the journal Cell.
May 19, 2016
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Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress ...
Jan 7, 2013
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Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine.
Jun 1, 2014
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(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to better understanding ...
Apr 8, 2013
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A University of Connecticut researcher is advancing the understanding of the devastating inherited condition known as spinal muscular atrophy.
Jan 29, 2013
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The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. An international team of researchers led by scientists ...
Apr 11, 2013
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Scientists at the Institute of Pharmacy at Martin Luther University Halle-Wittenberg (MLU) have developed new delivery vehicles for future gene therapies. A team of researchers led by Dr. Christian Wölk are using artificial ...
Nov 18, 2019
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