Researchers at Washington University School of Medicine in St. Louis studied the cerebrospinal fluid of normal mice and mice with a genetically-engineered version of neurofibromatosis 1, a neurological tumor disorder. ... Read More

These orphan drugs (specialty drugs to treat rare disorders or conditions) were approved by the U.S. Food and Drug Administration (FDA) for marketing in the U.S. in 2005. Some, like ... Read More

On December 12, 2005, the U.S. Food and Drug Administration (FDA) approved orphan drug status for mecasermin rinfabate (iPlex, formerly known as SomatoKine) for treatment of growth failure in children ... Read More

No, it's not a disorder associated with the holiday. It's a form of hemophilia named after the 10-year-old boy with the disease whom researchers studied in 1952 in Oxford, England. ... Read More

Studies in mice with Leber congenital amaurosis (LCA), an inherited retinal degenerative disorder, have successfully tested the injection of a normal vision gene, as well as oral administration of a ... Read More

The French Vasculitis Study Group studied at 112 individuals with Churg-Strauss syndrome, a small-vessel vasculitis. The researchers tested the study participants for antineutrophil cytoplasmic antibody (ANCA) and found 43 individuals ... Read More

Degos disease, also known as malignant atrophic papulosis, causes clogging (occlusion) of small- and medium-size arteries in the body. Degos disease causes distinctive skin lesions and may include gastrointestinal, visual, ... Read More

Newly-diagnosed children with Duchenne or Becker muscular dystrophy should be referred to a cardiologist for screening for heart muscle disease (cardiomyopathy), say researchers at Baylor College of Medicine and Texas ... Read More

A team of researchers from the Mayo Clinic, University of Minnesota, and University of Pittsburgh have been studying the cellular processes involved in juvenile dermatomyositis, a muscle disease. The researchers ... Read More

What causes dermatomyositis, a type of inflammatory muscle disease (myopathy), is unknown. Some research suggests it is an autoimmune disorder. Characteristic skin symptoms distinguish dermatomyositis from other myopathies.

Researchers studying amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) have known that in the disease, mutant SOD1 proteins clump together and form aggregates. It is also known ... Read More

Using a chemical analysis method, University of California Irvine researchers have found that people with cystic fibrosis (CF), an inherited exocrine disorder, exhale higher concentrations of sulfides from their lungs ... Read More

Some people would consider being 3'2" tall a liability in a world geared towards people much taller. Yet actor Josh Ryan Evans felt differently. Evans was born with achondroplasia, a ... Read More

Scientists know that the MECP2 gene is associated with symptoms in Rett syndrome, a neurological disorder, as well as autism and several X-linked mental retardation syndromes. Understanding how one gene ... Read More