The U.S. Food and Drug Administration (FDA) granted orphan drug designation to 14 drugs or compounds in January and February 2007. Here are two that are particularly interesting for the ... Read More

Deep brain stimulation involves putting the tip of a hair-thin wire down inside the brain in a special area that controls movement. The wire connects to a device, called a ... Read More

Rothmund-Thomson syndrome is an inherited genetic disorder of chromosome 8 which affects many systems of the body. It produces distinctive facial features which help diagnose the syndrome.

Researchers from the King Edward Memorial Hospital in Mumbai (Bombay), India, examined the bone health of 50 adults (ages 20-50 years) with hemophilia. Osteoporosis (weak, brittle bones) was present in ... Read More

The standard treatment for Kawasaki disease, the leading cause of acquired heart disease in children, is aspirin and intravenous immunoglobulin. A study published in the October 2005 issue of Pediatrics ... Read More

Machado-Joseph disease, known as spinocerebellar ataxia type 3, is one of the inherited ataxia disorders. The disease has three forms that differ in when they begin and how severe they ... Read More

On Monday, February 12, 2007, the U.S. Food and Drug Administration (FDA) announced changes to the labeling and usage of the antibiotic telithromycin (Ketek) to improve its safety for consumers. ... Read More

Valentine's Day seems like the perfect time to think about hearts. The Congenital Heart Information Network (C.H.I.N.) has an annual campaign to raise awareness about congenital (present at birth) heart ... Read More

In 2006, medical researchers began to report that a serious consequence of magnetic resonance imaging (MRI) may develop in people with end-stage renal (kidney) disease (ESRD). About 3 percent of ... Read More

Tyrosinemia type I is a metabolic disorder in which an enzyme critical for the breakdown of the amino acid tyrosine is missing. This allows abnormal amounts of tyrosine to accumulate ... Read More

Researchers at the Salk Institute for Biological Studies were interested to see how environment shapes behavior. They developed a questionnaire which they gave to parents in the United States and ... Read More

The Rare Diseases Clinical Research Network lists these two studies as currently looking for individuals with Angelman syndrome to participate: Angelman Syndrome Natural History Study This study is designed to learn more ... Read More

About.com's Guide to Parenting Special Needs, Terri Mauro, has reviewed the book, Tiny Titan. It's the story of the Yurcek family and their daughter Becca, the "tiny titan" of the ... Read More

People with ataxia have loss of muscle control, resulting in lack of balance and coordination. Many different disorders and conditions may cause ataxia. This article looks at ataxia disorders that ... Read More