This syndrome of increased blood pressure in the lungs (pulmonary hypertension) develops in individuals with large heart defects, usually while they are still children.

Bayer Pharmaceuticals and Onyx Pharmaceuticals announced on October 27, 2004, that a drug they have been developing in partnership, sorafenib (BAY 43-9006), has been granted orphan drug designation from the ... Read More

On October 26, 2004, Vion Pharmaceuticals announced it had been granted orphan drug designation from the U.S. Food and Drug Administration (FDA) for Cloretazine (VNP40101M) for the treatment of acute ... Read More

This inherited disorder causes abnormalities of the hands, arms, and heart, which may range from mild to severe.

Dr. David Graham, a scientist for the U.S. Food and Drug Administration (FDA), gave expert testimony before a U.S. Senate committee on Thursday, November 18, 2004. During his testimony he ... Read More

Scientists are working to understand the genetic mechanisms behind ataxia-telangiectasia, a progressive, degenerative disease that affects many body systems. It is known that the ATM protein is fundamental to repairing ... Read More

This inherited disorder of cystine metabolism causes high levels of cystine in the urine, which leads to cystine kidney stones.

In a study published in the October 5, 2004 edition of Proceedings of the National Academy of Sciences, researchers treated mice with myeloproliferative disease (MPD) with an experimental drug called ... Read More

Utrophin is an important muscle protein in young mice. Investigators at the University of Pennsylvania School of Medicine stimulated the production of utrophin in mice with muscular dystrophy. Utrophin improved ... Read More

For three decades researchers have known that vanillin, the compound that gives the vanilla bean its flavor, keeps red blood cells with sickle cell disease from sickling. This effect, though, ... Read More

Prune belly (Eagle-Barrett) syndrome is a congenital disorder with three main features: abdominal muscles in the front are weak or missing; parts of the urinary tract develop abnormally, and in ... Read More