People diagnosed with myotonic dystrophy type 1 have difficulty unclenching muscles due to a genetic defect that generates toxic material within their cells. There is currently no treatment. In a new report published in the ...
Apr 1, 2019
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A large-scale international study has discovered new genetic risk loci for Alzheimer's disease, and researchers published their work in Nature Genetics.
Jan 8, 2019
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(HealthDay)—A simple and rapid blood test can detect GLUT1 deficiency syndrome (DS), according to a study published online May 26 in the Annals of Neurology.
Jun 23, 2017
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New King's College London research reveals how genetic defects can lead to epilepsy in children.
Mar 14, 2017
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(MedicalXpress)—A new technique developed by a team of researchers affiliated with a number of facilities in China allows medical practitioners involved in IVF treatment to more easily weed out embryos with genetic defects ...
Mom's eyes and dad's tumor? Cancer is due to genetic defects, some of which can be hereditary. The gene variant rs351855, for example, occurs in one in two cancer patients. It supports the growth of a variety of tumors that ...
Dec 17, 2015
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Rice University scientists have solved a long-standing mystery about where the body stores and deploys blood-clotting factor VIII, a protein that about 80 percent of hemophiliacs cannot produce due to genetic defects.
Nov 2, 2015
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Research reported today by Tufts University biologists shows for the first time that bioelectrical signals among cells control and instruct embryonic brain development and manipulating these signals can repair genetic defects ...
Mar 10, 2015
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X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven ...
Feb 13, 2015
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(HealthDay)—The first test to screen for Severe Combined Immunodeficiency (SCID) in newborns has been approved by the U.S. Food and Drug Administration.
Dec 16, 2014
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