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NHGRI Takes New, WGS Look at Mendelian Diseases


NHGRI Takes New, WGS Look at Mendelian Diseases
July 27, 2021
By Allison Proffitt
July 27, 2021 | The National Institutes of Health has made a five-year, nearly $80 million commitment to the establishment of a  Mendelian Genomics Research Consortium of five clinical laboratories and one data coordinating center. The Consortium will build on previous National Human Genome Research Institute (NHGRI) work to develop new methods for identifying the genetic causes of single-gene diseases.
The clinical centers will be run by Stephen B. Montgomery, Ph.D., at Stanford University School of Medicine, Stanford, California; Deborah A. Nickerson, Ph.D., at the University of Washington, Department of Genome Sciences, Seattle; Anne O Donnell-Luria, M.D., Ph.D., at the Broad Institute of MIT and Harvard, Cambridge, Massachusetts, and Boston Children s Hospital; Eric J. Vilain, M.D., Ph.D., at the Center for Genetic Medicine Research at Children s National H ....

United States , University Of Washington , Stanford University , United Kingdom , Baylor College Of Medicine , Lisa Chadwick , Jennifere Posey , Deboraha Nickerson , Stephenb Montgomery , Allison Proffitt , Ericj Vilain , Anne Odonnell Luria , Broad Institute , Centers For Mendelian Genomics , National Institutes Of Health , Genetic Medicine Research At Children National Hospital , Stanford University School Of Medicine , Division Of Genome Sciences , Department Of Genome Sciences , Mendelian Genomics Research Consortium , Genome Sciences , University Of Washington School Public Health , National Human Genome Research Institute , National Institutes , Stanford University School , Anneo Donnell Luria ,

Managing Calcium Overload Identified as Novel Therapeutic Approach in Treating Injured Muscle Fibers


Managing Calcium Overload Identified as Novel Therapeutic Approach in Treating Injured Muscle Fibers
March 16, 2021
Mutations in a calcium ion channel anoctamin 5 (ANO5), commonly found in muscle cells, cause the debilitating disease called limb girdle muscular dystrophy 2L (LGMD2L). Characterized by progressive adult-onset muscle weakness, LGMD2L patients are often asked to “keep mobile” with no specific guidelines on the type or intensity of activities but weakness in muscles of the calves, thighs, and arms makes it difficult for patients to tolerate physical activity.
“There are no therapies available,” said Jyoti Jaiswal, PhD, principal investigator at Children’s National Hospital’s Center for Genetic Medicine Research. ....

Jyoti Jaiswal , Goutam Chandra , Children National Hospital Center , Genetic Medicine Research , National Hospital , Genetic Medicine , Cell Biology , ஜையோடீ ஜெய்ஸ்வால் , கௌதம் சந்திரா , குழந்தைகள் தேசிய மருத்துவமனை மையம் , ஜெநெடிக் மருந்து ஆராய்ச்சி , தேசிய மருத்துவமனை , ஜெநெடிக் மருந்து , செல் உயிரியல் ,