Between May 31 and June 3, 2006, the 11th Annual Human Genome Meeting (HGM) will take place in Helsinki, Finland. The program will include plenary sessions such as "Plagues and ... Read More

Did you know that 14 women in the U.S. have died due to a rare bacterial infection? Learn more about these women's deaths due to Clostridium sordellii infection after use ... Read More

On March 1, 2006, the European organization Orphanet launched an open-access, peer-reviewed journal, Orphanet Journal of Rare Diseases. The journal is available free online, and no subscription is required to ... Read More

Since 2001 scientists have known that the gene CGI-58 causes the lipid storage disorder Chanarin-Dorfman syndrome. A research team led by the University of Graz in Austria have found that ... Read More

In Huntington's disease (HD), a neurodegenerative disorder, abnormal nerve cell (neuron) death occurs. French researchers at the Institut Curie, Centre National de la Recherche Scientifique (CNRS), and Inserm have shown ... Read More

May is Ehlers-Danlos Syndrome Awareness Month. It is estimated that as many as 50,000 Americans have some form of this connective tissue disorder, but most do not know it. The ... Read More

Children born with severe combined immunodeficiency (SCID, known as the "bubble boy" disease) have little natural defense against infection. Researchers in France have used gene therapy to create a cure ... Read More

The Imperial College of London is hosting a symposium, "Update in Neuromuscular Disorders," on May 17-19, 2006, in London. Topics to be presented include the use of steroids in Duchenne ... Read More

Researchers at the Georgia Institute of Technology are using a new multi-functional sensing tool in their study of adenosine triphospate (ATP) release and its role in cystic fibrosis. The tool ... Read More

The skin disorder ichthyosis, when inherited, is a common disorder. When ichthyosis is acquired due to an underlying disorder, though, it is rare. In both cases the affected skin becomes ... Read More

Individuals with chronic granulomatous disease (CGD), an immune disorder, are vulnerable to many different types of infections. Researchers at the National Institute of Allergy and Infectious Diseases have discovered a ... Read More

Researchers at the San Raffaele Scientific Institute in Milan, Italy, have been studying metachromatic leukodystrophy (MLD), an inherited neurometabolic disorder which causes loss of myelin around nerves. The researchers transplanted ... Read More

On March 13, 2006, the U.S. Food and Drug Administration (FDA) approved orphan drug status for a new indication for thymalfasin injection (Zadaxin). Made by SciClone Pharmaceuticals, Zadaxin is being ... Read More

There is as yet no known cure for Alport syndrome, a genetic disorder which causes kidney failure and hearing loss. A group of researchers led by Beth Israel Deaconess Medical ... Read More

There are several forms of this inherited bone disorder, ranging from mild to severe. A person with osteopetrosis has brittle, dense bones which break easily.

On April 4, 2006, the U.S. Food and Drug Administration (FDA) approved orphan drug status for EPI-A0001 for the treatment of inherited mitochondrial respiratory chain diseases (mitochondrial encephalomyopathies). Made by ... Read More

The effects of untreated juvenile dermatomyositis, an inflammatory muscle disease, should be taken into account when determining treatment, according to researchers at Northwestern University in Chicago. They examined 166 children ... Read More

University of Pennsylvania School of Medicine researchers have found the gene which causes fibrodysplasia ossificans progressiva (FOP), a disorder which causes muscle and soft connective tissue to change into bone. ... Read More

On April 28, 2006, the U.S. Food and Drug Administration (FDA) granted marketing approval for the drug Myozyme (alglucosidase alfa) for treatment of Pompe disease in the United States. Manufactured ... Read More