CYCLO shows promise in treating Niemann-Pick type C disease in mice
Wednesday January 28, 2009
Niemann-Pick disease refers to a group of inherited storage disorders which affect how the body creates energy. Niemann-Pick type C, the most rare type, makes the body unable to break ... Read More
Lissencephaly
Sunday January 25, 2009
The brain normally has many ridges and valleys in its surface, giving it a wrinkled appearance. In lissencephaly, the surface of the brain is almost completely smooth because the brain ... Read More
How Many Types Of Dwarfism Are There?
Sunday January 18, 2009
There are an estimated 200 types of dwarfism. Dwarfism means that a person has an adult height of 4 feet 10 inches or shorter. Some types are an inherited genetic ... Read More
CDC study reports racial/ethnic differences in spina bifida prevalence
Wednesday January 14, 2009
Neural tube defects (NTDs) are a group of birth defects that result from improper development of the spine, spinal cord, or brain during pregnancy. Spina bifida, in which some of ... Read More
Hemophilia A
Sunday January 11, 2009
Hemophilia A is the more common type of hemophilia. It results from a deficiency of coagulation Factor VIII. Hemophilia is inherited as an X-linked recessive disorder. This means that it ... Read More
Top Orphan Drugs Approved in 2008
Sunday January 4, 2009
A rare disease occurs in less than 200,000 individuals in the United States, or less than 5 per 10,000 individuals in the European Union. Specialty drugs to treat rare diseases ... Read More
Jett Travolta, Kawasaki disease survivor, dies in Bahamas
Saturday January 3, 2009
Jett Travolta, the 16-year-old son of John Travolta and Kelly Preston, died Friday, January 2, 2009, after apparently having a seizure in the bathroom and hitting his head on the ... Read More