News tagged with rare genetic condition

New gene test offers personalized treatment for inherited neuromuscular disorder

The gene, GFPT1, has been identified by researchers at Newcastle University working with international colleagues, as crucial in causing a variation of Congenital Myasthenic Syndrome (CMS).

Medicine & Health / Genetics

created Feb 11, 2011 | popularity 5 / 5 (1) | comments 0

Researchers crack the genetic code of a sudden death cardiac killer

Researchers in Newfoundland have cracked the genetic code of a sudden death cardiac killer.

Medicine & Health / Genetics

created Oct 26, 2010 | popularity 5 / 5 (1) | comments 0

Doctors Use Patient's Own Stem Cells to Grow Facial Bone

(PhysOrg.com) -- In a first-of-its kind procedure, physicians have used stem cells taken from the fat tissue of a 14-year-old boy and combined them with growth protein and donor tissue to grow viable cheek bones in the teen. ...

Medicine & Health / Medical research

created Oct 12, 2009 | popularity 5 / 5 (2) | comments 0

Scientists discover new genetic immune disorder in children

Your immune system plays an important function in your health—it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing ...

Medicine & Health / Medical research

created Jun 04, 2009 | popularity 2.5 / 5 (2) | comments 0

Sociability traced to particular region of brain

People with a genetic condition called Williams syndrome are famously gregarious. Scientists, looking carefully at brain function in individuals with Williams syndrome, think they may know why this is so. The researchers ...

Medicine & Health / Medical research

created Jan 27, 2009 | popularity 3.7 / 5 (3) | comments 0