News tagged with genetic disorder

Telomere shortening affects muscular dystrophy gene

(Medical Xpress)—Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder that causes the muscles of the upper body to waste away. It is unusual in that symptoms do not usually appear until sufferers are in their ...

May 06, 2013
popularity 4.8 / 5 (4) | comments 3 | with audio podcast report

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