The human genome is made up of 20,000 genes, all of which may cause disease. At present, 4,141 genes have been identified as being responsible for genetic abnormalities, leaving around 16,000 genes with unknown implication ...
Jul 23, 2018
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We can learn a lot about somebody from the friends they hang out with. This applies to people and also to genes and proteins. Emory scientists have been investigating a gene that we will call—spoiler alert —"Friend of ...
Aug 9, 2017
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A doctor who was one of the discoverers of the gene responsible for myotonic muscular dystrophy has now identified a drug that could slow the progression of muscle damage and muscle dysfunction associated with the disease ...
Mar 18, 2015
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A worldwide study of the DNA of 100,000 women has discovered two new genetic variants associated with an increased risk of breast cancer.
Feb 4, 2015
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(Medical Xpress) -- A protein essential for metabolism and recently associated with neurodegenerative diseases also occurs in several brain-specific forms. This discovery emerged in the course of a research project funded ...
Jul 23, 2012
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A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset ...
Aug 13, 2018
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The discovery of the gene responsible for a form of epilepsy in girls has led to a new treatment for the disorder.
Jul 6, 2015
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Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and ...
Nov 7, 2018
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The underlying cause of male infertility is unknown for 30 percent of cases. In a pair of new studies, researchers at University of California San Diego School of Medicine determined that the reproductive homeobox (RHOX) ...
Sep 27, 2016
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(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition ...
Apr 3, 2013
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