An international study led by researchers from the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA has found that people who are born with a genetic disease that greatly increases the risk of developing ...
Jul 30, 2019
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The lab of Yongchao Ma, Ph.D., from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago, discovered how the genetic defect in fragile X syndrome—a type of autism—delays ...
Jul 23, 2019
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Researchers at the University of Oxford, in collaboration with colleagues from Hannover Medical School and Martin-Luther-University Halle-Wittenberg, have discovered the specific gene mutations that are required for the development ...
Jul 11, 2019
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In sudden death in epilepsy, people stop breathing for no apparent reason and die. Now, a group of UConn neuroscientists have a lead as to why, they report in the journal eLife.
Jun 20, 2019
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Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has an heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult, according ...
Apr 5, 2019
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Vaccination with as few as four tumor antigens generated antigen-specific responses, reduced intestinal tumors, and improved survival in a mouse model of Lynch syndrome, suggesting that it may be possible to develop a cancer ...
Apr 1, 2019
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(HealthDay)—Jatenzo (testosterone undecanoate) has been approved by the U.S. Food and Drug Administration to treat men with low testosterone, medically called hypogonadism.
Mar 28, 2019
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Mutations in the NUP160 gene, which encodes one protein component of the nuclear pore complex nucleoporin 160 kD, are implicated in steroid-resistant nephrotic syndrome, an international team reports March 25, 2019, in JASN. ...
Mar 26, 2019
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Using X-ray fluorescence at synchrotrons DESY and ESRF, researchers in the Centre d'Etudes Nucléaires de Bordeaux Gradignan (CNRS/Université de Bordeaux) have demonstrated the consequences of a mutation responsible for ...
Jan 16, 2019
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Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
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