Huntington's disease (HD) is a neurological disorder that causes progressive loss of movement, coordination and cognitive function. It is caused by a mutation in a single gene called huntingtin (HTT). More than 200,000 people ...
Dec 12, 2022
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A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular ...
Mar 4, 2022
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When researchers say they have sequenced the human genome, there is a caveat to this statement: a lot of the human genome is sequenced and assembled, but there are regions that are full of repetitive elements, making them ...
Feb 7, 2019
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A team of Massachusetts General Hospital (MGH) researchers has identified a specific genetic change that may be the cause of a rare but severe neurological disorder called X-linked dystonia parkinsonism (XDP). Occurring only ...
Dec 11, 2017
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The Retinoblastoma protein (pRB) has long been studied for its role in cell growth and the prevention of cancer. In a new study by Lawson Health Research Institute, scientists have discovered that pRB plays another, larger ...
Dec 15, 2016
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The stretches of DNA between genes, littered with repeating sequences, were once considered the "junk of the genome," but scientists are learning that some of this junk is far from harmless clutter.
Nov 1, 2016
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Researchers from the Massachusetts General Hospital (MGH) Cancer Center and Boston University School of Medicine (BUSM) have identified the first potential treatment targeting a pathway by which several aggressive tumors ...
Jan 15, 2015
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Researchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.
Nov 25, 2014
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Scientists affiliated with the UC Davis MIND Institute have discovered how a defective gene causes brain changes that lead to the atypical social behavior characteristic of autism. The research offers a potential target for ...
Aug 10, 2012
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(Medical Xpress) -- Using high-throughput gene sequencing technology, researchers have identified several harmful spontaneous gene mutations in children with autism spectrum disorders (ASDs) that may cause the disorder.
May 16, 2011
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