April 25 - May 2, 2009, is National Infant Immunization Week in the U.S. If you're wondering what this has to do with rare diseases, it is because of widespread ... Read More

The current swine flu, what is actually killing the victims? - a Social Studies teacher in Tampa FL There are several groups of people who are more likely to die from ... Read More

Bartter syndrome and Gitelman syndrome have similar symptoms, and it may sometimes be difficult to correctly diagnose which disease is present. Both are inherited kidney diseases caused by defects in ... Read More

The U.S. Centers for Disease Control and Prevention (CDC) has reported 8 confirmed cases of swine flu virus in the U.S. (6 in California, 2 in Texas, all of whom ... Read More

The Associated Press reports that William "The Refrigerator" Perry, a former defensive lineman for the Chicago Bears, is in the hospital in serious condition. He was admitted last week with ... Read More

Fabry disease is an inherited storage disorder caused by a deficiency of an enzyme. Among other symptoms, Fabry disease causes kidney problems and eventually kidney failure. Researchers studied how using ... Read More

Premature babies have a high risk for patent ductus arteriosus (PDA), a heart defect. Researchers conducted a study to see if they could identify any genetic markers for PDA. As ... Read More

Erdheim-Chester disease causes thickening of connective tissue and bone. It can affect many parts of the body, such as the long bones in the arms and legs, the skin, lungs, ... Read More

The BBC reports that Complete Genomics, a biotech research firm in California, says that it will sequence one thousand complete human genomes between June 2009 and the end of the ... Read More

In Hurler syndrome, an inherited storage disorder, a deficient enzyme allows parts of sugar molecules to build up and progressively damage parts of the body. It is one of the ... Read More

Chris Hempel, mother of Addi and Cassi Hempel (pictured), has been on a mission to find a cure for Niemann-Pick disease type C, a disorder of cholesterol metabolism that damages ... Read More

Mucopolysaccharidosis type II (MPS II), called Hunter syndrome, is an inherited storage disorder in which an enzyme in the body is deficient. Type A is the severe form, which usually ... Read More

On March 23, 2009, the U.S. Food and Drug Administration (FDA) granted marketing approval for the Therakos Cellex Photopheresis System for the palliative (reducing the severity of symptoms) treatment of ... Read More