Aplasia cutis congenita is a skin disorder in which an infant is born with a patch of skin missing, usually on the scalp. This may occur by itself or be ... Read More

Treatment with losartan (Cozaar), a blood pressure medication, can prevent the progression of Marfan syndrome, a connective tissue disorder, in mice, according to researchers at Johns Hopkins University School of ... Read More

Children's Hospital of Pittsburgh researchers report that liver transplants cured the metabolic symptoms of 11 individuals with maple syrup urine disease (MSUD), a metabolic disorder. The usual treatment for MSUD ... Read More

April 26, 2006, is the 20th anniversary of the Chernobyl nuclear disaster in 1986. Although much of the world has forgotten the world's worst nuclear accident, the people who lived ... Read More

The U.S. National Human Genome Research Institute (part of the National Institutes of Health), in cooperation with the American Society of Human Genetics, the Genetic Alliance and the National Society ... Read More

Cystinosis is an inherited disorder of chromosome 17 in which the amino acid cystine is not transported properly out of the body’s cells. This causes tissue and organ damage throughout ... Read More

Viral hemorrhagic fevers such as those cause by the Ebola and Marburg viruses have a high mortality rate (up to 80% of those infected will die) and can be spread ... Read More

On March 19, 2006, the U.S. Food and Drug Administration (FDA) approved orphan drug status for homoharringtonine (Ceflatonin) for the treatment of chronic myeloid leukemia (CML). ChemGenex Pharmaceuticals states in ... Read More

Imagine being able to screen newborn infants for 7 rare enzyme disorders at birth. You might think this would be too expensive, or take too long. Researchers at the University ... Read More

The National Organization for Rare Disorders (NORD) hosts its 2006 Tribute Banquet on April 24 to honor individuals and companies for milestones in the development of diagnostics and treatments for ... Read More

Maffucci syndrome is a disorder which affects the skin and skeleton, causing benign cartilage tumors, bone deformities, and dark hemangiomas to develop. Despite these symptoms, individuals with Maffucci syndrome usually ... Read More

It has been known that a major source of lactate dehydrogenase (LDH) in the blood of individuals with sickle cell disease is the breakdown of red blood cells in disease. ... Read More

It is difficult at times to correctly diagnose primary lateral sclerosis (PLS) because its early symptoms may look like those of other neurodegenerative disorders, especially amyotrophic lateral sclerosis (ALS). Researchers ... Read More

On April 3, 2006, the European Medicines Agency (EMEA) granted marketing approval for the drug Myozyme (alglucosidase alfa) for treatment of Pompe disease in the European Union. Manufactured by Genzyme ... Read More

Vogt-Koyanagi-Harada (VKH) syndrome has neurological, eye, ear, and skin symptoms. Research suggests it may be due to an autoimmune reaction in which the body attacks its own healthy cells that ... Read More

Individuals with MELAS syndrome, a mitochondrial disorder, produce an abnormal build-up of lactic acid, normally a waste product, in the body. Researchers led by a team at Columbia University in ... Read More

Read up on amyotrophic lateral sclerosis (ALS) research published in early 2006, including biomarkers for ALS, rate of progression and length of survival, effects of non-invasive ventilation on quality of ... Read More

Acromegaly is a hormonal disorder in which there is overproduction of growth hormone. If the disorder begins in puberty, it is called gigantism. (The late wrestler Andre the Giant was ... Read More