In IgA nephropathy, damage is caused in the kidney by the abnormal buildup of a protein (IgA). A study published in the June 2007 issue of Journal of the American ... Read More

Mice with achromatopsia, an inherited genetic form of blindness, had some of their sight restored using gene therapy, says a study published online May 21, 2007, in Nature Medicine. Researchers ... Read More

POEMS syndrome is a blood disorder that affects many parts of the body and causes many symptoms. It affects both men and women and usually begins after age 50. It ... Read More

The Sturge-Weber Foundation 2007 International Conference will be held July 12-15 in Anaheim, California. There will be many opportunities for attendees to visit with the medical experts and learn about ... Read More

On May 17, 2007, an experimental smallpox vaccine called ACAM2000 (made by Acambis plc) received positive recommendations from the Vaccines and Related Biological Products Advisory Committee of the US Food ... Read More

May 2007 is Tuberous Sclerosis Awareness Month in the United States. Tuberous sclerosis is a genetic disorder which results in tumor formation in many parts of the body. The genetic ... Read More

Joubert syndrome is a genetic birth defect in which the area of the brain that controls balance and coordination is underdeveloped. It occurs in both males and females, in about ... Read More

The National Organization for Rare Disorders (NORD) will hold its 2007 Tribute Banquet on May 21. At this annual event NORD honors individuals and companies that have made significant contributions ... Read More

The 2007 International MPS Network Conference will take place May 24-27 in Serock, Poland. The International MPS Network helps to develop foreign cooperation among associations and scientific communities throughout the ... Read More

Amyotrophic laterals sclerosis (ALS, or Lou Gehrig's disease) is either inherited (about 5 percent of cases) or occurs in a person with no family history of the disease (sporadic form). ... Read More

May 2007 is Sturge-Weber Awareness Month in the United States. Children born with Sturge-Weber syndrome have a light pink to dark purple birthmark on their faces (called a port wine ... Read More

May 12, 2007, is Cornelia de Lange Syndrome Awareness Day in the United States. Cornelia de Lange syndrome (CDLS), also known as Bachmann-de Lange syndrome, is a genetic disorder present ... Read More

May 2007 is National Neurofibromatosis Month in the United States. There are three types of neurofibromatosis, all of which are genetic disorders that cause tumors (neurofibromas) to form on the ... Read More

Boys with Duchenne muscular dystrophy, a neuromuscular disorder, are often treated with corticosteroids (such as prednisone), since studies have shown that this treatment can improve muscle strength and function. A ... Read More

May 2007 is Multiple Chemical Sensitivities Awareness Month in the United States. When someone with multiple chemical sensitivities (MCS, also called environmental illness) comes in contact with a substance to ... Read More

Myotonia congenita is a genetic muscle disorder that begins at birth. When voluntary muscles are stimulated they stiffen and have difficulty relaxing. Individuals with myotonia congenita often have abnormally enlarged ... Read More

During March 2007 the U.S. House Subcommittee on Health held hearings on H.R. 493, the Genetic Information Nondiscrimination Act of 2007. The purpose of the bill is to prohibit discrimination ... Read More

Leber congenital amaurosis (LCA) is an inherited genetic disorder that causes an infant to be born with impaired vision that gets worse over time. Researchers from University College London Institute ... Read More

Albuterol (Proventil, Ventolin), an inhaled medication commonly used to improve breathing in people with lung problems such as asthma, does not seem to benefit people with cystic fibrosis, an inherited ... Read More