Medical research

Study reveals active site of enzyme linked to stuttering

(Medical Xpress)—Scientists from the Joint Center for Structural Genomics (JCSG) at SLAC National Accelerator Laboratory have determined the 3-D structure of the chemically active part of an enzyme involved in stuttering.

Neuroscience

Study puts Huntington's disease trials on TRACK

(Medical Xpress)—A three-year multinational study has tracked and detailed the progression of Huntington's disease (HD), predicting clinical decline in people carrying the HD gene more than 10 years before the expected ...

Autism spectrum disorders

Whole-exome sequencing identifies inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...

Genetics

Two-day test can spot gene diseases in newborns (Update)

Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical ...

Neuroscience

DNA detectives track down nerve disorder cause

Better diagnosis and treatment of a crippling inherited nerve disorder may be just around the corner thanks to an international team that spanned Asia, Europe and the United States. The team had been hunting DNA strands for ...

Genetics

New form of intellectual disability discovered

Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.

Genetics

Rare muscular dystrophy gene mutations discovered

(Medical Xpress) -- Research co-led by Radboud University Nijmegen Medical Centre and the Wellcome Trust Sanger Institute has revealed gene mutations that account for 15 per cent of all babies born with Walker-Warburg syndrome, ...

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