With an estimated twenty-thousand protein-coding genes in the human genome, pinpointing a specific gene or pathway responsible for a particular disease can be like finding a needle in the proverbial haystack. This has certainly ...
Oct 17, 2018
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Researchers at UMass Medical School have developed a genome-editing strategy to correct disease-causing DNA mutations in mouse models of human genetic diseases, according to research published in the Aug. 18 edition of Nature ...
Aug 14, 2018
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Early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose ...
Aug 13, 2018
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In recent years, researchers have firmly established that gene mutations appearing for the first time, called de novo mutations, contribute to approximately one-third of cases of autism spectrum disorder (ASD). In a new study, ...
Apr 19, 2018
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In the world's largest study into the genetic causes of endometriosis, University of Queensland researchers have helped identify five new gene regions linked to the disease.
May 25, 2017
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People with social anxiety avoid situations in which they are exposed to judgment by others. Those affected also lead a withdrawn life and maintain contact above all on the Internet. Around one in ten people is affected by ...
Mar 9, 2017
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A causative gene for a highly common type of hearing loss (sensorineural hearing loss, or SNHL) has been identified by a group of Japanese researchers, who successfully replicated the condition using a transgenic mouse. This ...
Oct 6, 2016
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Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial ...
Jul 22, 2016
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Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy ...
Nov 13, 2015
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A gene responsible for a severe form of the brain formation disorder microlissencephaly has been identified by A*STAR scientists through a collaboration with researchers in seven countries.
Jul 29, 2015
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