In this disorder, a biochemical defect causes abnormal red blood cell breakdown, blood clots in veins, and a deficiency in the production of all types of blood cells. Research, including ... Read More

University of Texas Southwestern Medical Center researchers have discovered a mouse gene that may play a role in centronuclear myopathy, a group of rare inherited muscle diseases in humans. Mice ... Read More

The immunosuppressive drug mycophenolate mofetil may be effective in controlling inflammatory eye diseases. Researchers at Johns Hopkins' Wilmer Eye Institute gave the drug to 84 individuals, of whom 61% had ... Read More

Gastroschisis is a birth defect in which an infant is born with some of or all his/her intestines on the outside of the abdomen due to an abnormal opening in ... Read More

Aplastic anemia is a life-threatening disease in which the bone marrow fails to make enough of all types of blood cells. The immune system is thought to play a role ... Read More

Lenalidomide (Revlimid) and dexamethasone have been used together to treat recurrent or highly resistant forms of myeloma, a bone marrow cancer. Researchers at the Mayo Clinic studied whether the combination ... Read More

Takayasu arteritis is a chronic inflammatory disease of the large arteries. Although its exact cause is as yet unknown, studies suggest it may arise after certain types of infections or ... Read More

On September 27, 2005, the European Commission approved orphan drug status for troxacitabine (Troxatyl injection, made by SGX Pharmaceuticals) for the treatment of acute myeloid leukemia (AML), a blood cancer. ... Read More

In 2003, the Office of Fair Trading in the United Kingdom issued a decision against Genzyme Limited, finding that Genzyme had priced its drug Cerezyme, used to treat Gaucher disease, ... Read More

Progressive supranuclear palsy is a degenerative brain disorder that gets worse over time. Its symptoms may be misdiagnosed as Alzheimer's disease, alcohol abuse, or stroke.

To date, researchers have identified eight genes that cause different types of Leber congenital amaurosis, a retinal disease that causes loss of vision. Researchers from Harvard Medical School have been ... Read More

A team of researchers, led by scientists at Rockefeller University, have found a gene mutation not previously known to be related to Fanconi anemia, called BRIP1. Its protein, BACH1, helps ... Read More

This X-linked genetic disorder causes impaired vision, with symptoms similar to macular degeneration, primarily in boys. Retinal detachments and vitreous hemorrhage may also occur.