Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into a medical test that ...
Feb 26, 2012
0
0
The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...
Jan 8, 2012
0
0
Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.
Dec 15, 2011
0
0
Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Dec 14, 2011
0
0
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
2
0
A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality and death in ...
Nov 4, 2011
0
0
Researchers have identified a potential drug therapy for a premature ageing disease that affects children causing them to age up to eight times as fast as the usual rate.
Nov 2, 2011
0
0
The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this ...
Oct 30, 2011
0
0
A discovery by scientists at the Salk Institute for Biological Studies might explain why some premature infants fail to respond to existing treatments for a deadly respiratory distress syndrome (RDS) and offers clues for ...
Oct 18, 2011
0
0
The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions ...
Sep 12, 2011
0
0
