Genetics

First comprehensive atlas of human gene activity released

A large international consortium of researchers has produced the first comprehensive, detailed map of the way genes work across the major cells and tissues of the human body. The findings describe the complex networks that ...

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.

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 ...

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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