News tagged with genetic disorder

Mystery disease solved by gene experts

(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other ...

May 03, 2013
popularity 4.5 / 5 (2) | comments 1 | with audio podcast

Rare, lethal childhood disease tracked to protein

A team of international researchers led by Northwestern Medicine scientists has identified how a defective protein plays a central role in a rare, lethal childhood disease known as Giant Axonal Neuropathy, or GAN. The finding ...

Apr 29, 2013
popularity 5 / 5 (1) | comments 1 | with audio podcast