Wilson's disease is an inherited genetic disorder of copper metabolism. Healthy people excrete extra copper that the body doesn't need, but people with Wilson's disease can't. If left untreated, Wilson's ... Read More

On December 13, 2007, the U.S. Food and Drug Administration (FDA) approved Kuvan (sapropterin dihydrochloride), the first drug of its kind approved to treat phenylketonuria (PKU), an inherited metabolic disorder. ... Read More

CDX-110 On December 7, 2007, the U.S. Food and Drug Administration (FDA) granted orphan drug designation to CDX-110 (made by Celldex Therapeutics) for the treatment of glioblastoma multiforme, an aggressive cancerous ... Read More

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an inherited genetic condition that affects approximately 1 in 100,000 babies born. It is named after the four doctors who described the symptoms of the syndrome. ... Read More

A 3-year-old UK boy who was treated as an infant with gene therapy for severe combined immunodeficiency (X-SCID) has developed leukemia, a blood cell cancer. In a press release on ... Read More

Fragile X syndrome is the most common inherited form of mental retardation and the leading identified cause of autism. Fragile X syndrome is caused by lack of activity of the ... Read More

Pompe disease, also know as glycogen storage disease type II (GSD-II) or acid maltase deficiency, is one of 49 known lysosomal storage disorders. Pompe disease is caused by a deficiency ... Read More

The U.S. Food and Drug Administration (FDA) announced on Wednesday, December 12, 2007, that the manufacturers of drugs containing the active ingredient carbamazepine (such as Carbatrol, Tegretol, and Equetro) have ... Read More

A study led by Duke University Medical Center researchers looked at using umbilical cord blood transplants from unrelated donors to treat metabolic disorders such as Hurler syndrome (MPS I) and ... Read More

Familial dysautonomia (also known as Riley-Day syndrome) is an inherited genetic disorder that affects the autonomic and sensory nervous systems. This disorder occurs in about 1 in 3,700 individuals of ... Read More

Dr. Erin Tracy is concerned about genetics tests that are marketed directly to consumers. She writes in the December 2007 issue of the Obstetrics & Gynecology journal that advertising for ... Read More

In the U.S., December 1-7, 2007, is National Aplastic Anemia and Myelodysplastic Syndrome Awareness Week. Myelodysplastic syndrome can develop silently, because other than perhaps looking pale and tired, an individual ... Read More