Monthly Archives: May 2010

Molecular classification for biliary atresia

A molecular signature for biliary atresia classifies samples into inflammation or fibrosis stages at diagnosis and will be valuable for personalized clinical management of this disease, according to research recently published in Genome Medicine. Biliary atresia is a blockage or absence of the bile duct usually diagnosed soon after birth.  The cause of this condition… Read more »

Medicine

Diagnosing Alzheimer's disease – how good is neuropathology?

Advances in clinical diagnostics, such as neuroimaging, as well as the development of new biomarkers, have raised questions as to whether neuropathological assessment is both accurate and specific enough to diagnose Alzheimer’s disease (AD).  Two articles published last week in Alzheimer’s Research & Therapy address this issue and make up a pro/con debate discussing whether… Read more »

Medicine

Trials publishes first extended protocol

Yesterday, Trials published a substantially extended version of Zinkstok and colleagues’ protocol for a randomized controlled trial of a new combination therapy for ischemic stoke, which was originally published in Cerebrovascular Diseases. In this extended protocol, the authors expand upon key methodological elements of their study, giving full details of enrollment procedures, outcome measures and… Read more »

Medicine

Novel format for gene variant reporting

The Locus Reference Genomic (LRG) sequence format, recently reported in Genome Medicine, allows a single fixed record containing a reference DNA sequence and all relevant transcripts and protein sequences to be associated with an updateable layer of gene variant coordinates, which should reduce errors in reporting and lead to improved communication about genomic variants. Nature… Read more »

Medicine