Genetic test could aid quest to reveal causes of rare diseases
The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests.
Dec 18, 2019
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Research led by Nicolas Bazan, MD, Ph.D., Boyd Professor and Director of the Neuroscience Center of Excellence at LSU Health New Orleans School of Medicine, has discovered unique patterns of genetic activity that may lead ...
Dec 10, 2019
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The cause of amyotrophic lateral sclerosis (ALS)—a disabling neurodegenerative disease that affects nerve cells in the brain and spinal cord and leads to weakened muscles and early death—is not fully understood, but accumulating ...
Nov 27, 2019
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Researchers from the Intermountain Healthcare Heart Institute in Salt Lake City have identified new mutations in a gene commonly associated with non-ischemic dilated cardiomyopathy (NIDC), a disease that weakens the heart ...
Nov 17, 2019
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MIPT researchers have collaborated with Atlas Biomedical Holding and developed a new bioinformatics data analysis method. The developed program, EphaGen, can be used for quality control when diagnosing genetic diseases. The ...
Nov 8, 2019
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Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel ...
Nov 6, 2019
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Scientists at the Institute for Research in Biomedicine (IRB Barcelona), in collaboration with the Centre for Genomic Regulation (CRG) and Radboud University, have developed an algorithm that can predict which cancer patients ...
Oct 30, 2019
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In a finding that could help lead to new therapies for immune diseases like multiple sclerosis and IBD, scientists report in the Journal of Experimental Medicine identifying a gene and family of proteins critical to the formation ...
Oct 25, 2019
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New insights into the journey from health to disease in the human liver have been made by scientists at the Wellcome Sanger Institute, Cancer Research UK Cambridge Institute, the University of Cambridge and their collaborators. ...
Oct 23, 2019
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When young athletes experiences sudden cardiac death as they run down the playing field, it's usually due to arrhythmogenic cardiomyopathy (ACM), an inherited heart disease. Now, Johns Hopkins researchers have shed new light ...
Oct 17, 2019
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