Tobramycin and hearing loss in CF Tobramycin, a drug used to treat respiratory infection in cystic fibrosis (CF), can cause hearing loss. Researchers at the University of Leicester in the United ... Read More

Although for most people the coming of Labor Day means summer is over, it doesn't mean mosquitoes have gone away--in fact, it's peak mosquito season right now, and the threat ... Read More

Although researchers understand what causes Trisomy 21 (Down syndrome)--an extra copy of chromosome 21--less is understood about what genes are responsible for the symptoms of the disorder, such as mental ... Read More

There are over 200 different types of dwarfism, all of which involve bone growth disorders that result in short stature (adult height less than 4’10” tall). Primordial dwarfism is a ... Read More

Abnormal RNA in mytonic dystrophy can be silenced The genetic defect underlying myotonic muscular dystrophy (MMD) causes production of abnormally long RNA molecules in the body's cells. Researchers have in the ... Read More

In July 2006 the U.S. Food and Drug Administration approved the drug idursulfase (Elaprase) for marketing for the treatment of Hunter syndrome (MPS II). The approval was based on the ... Read More

Duke University Medical Center researchers report that one form of hereditary spastic paraplegia (HSP), a group of neurological disorders, is linked to the gene REEP1. Precisely how this gene functions ... Read More

Primary or idiopathic myelofibrosis, also known as agnogenic myeloid metaplasia, is a disease of the bone marrow in which fibrous tissue develops in the marrow. It is one of the ... Read More

In the July 24, 2006, issue of Archives of Internal Medicine, University of Alabama Medical School researchers and their colleagues describe four cases of individuals with asymptomatic neuromuscular disorders having ... Read More

Antiphospholipid syndrome (APS) is an autoimmune disorder in which the body makes antibodies to its own phospholipids or plasma proteins. This causes abnormal blood clots to develop frequently. Researchers at ... Read More

Intestinal infection (enteritis) caused by Campylobacter jejuni bacteria is very common. Reports have linked this type of infection with the development of Guillain-Barre syndrome, a neurological disorder. Researchers at the ... Read More

Little is known about the role of heat shock protein 60 (HSP60) in inflammatory myositis, a group of diseases that cause inflammation in the muscles of the body. Mrs. Elisabeth ... Read More

Prader-Willi syndrome is caused by a genetic disorder of chromosome 15. It occurs in approximately one of every 12,000-15,000 people, in both boys and girls, and in people of all ... Read More

The drug valproate (Depakote), an epilepsy drug, has been studied as a treatment for spinal muscular atrophy (SMA), a motor neuron disease. Researchers at the Washington University School of Medicine ... Read More

Burkitt lymphoma is a fast-growing type of B-cell non-Hodgkin's lymphoma (cancer of the lymph system) that occurs most often in children and young adults. It is fatal if untreated, but ... Read More

Parlez-vous français? If you do, and you're interested in learning more about rare disorders, you can learn online at OrphaSchool, provided by Orphanet. OrphaSchool offers interactive courses on different aspects ... Read More

Brisbane, Australia, is the site of the 11th International Congress of Human Genetics from August 6-10, 2006. Held every five years, the Congress is organized on behalf of the International ... Read More

A person with essential thromobocythemia (ET) has an excess amount of platelets in the blood due to a disorder of the bone marrow. ET may occur at any age but ... Read More

Rett syndrome linked to mitochondrial gene Rett syndrome is caused by mutations in the MECP2 gene. There have been clinical reports of mitochondrial abnormalities in individuals with Rett syndrome, so researchers ... Read More

Computed tomography (CT) scans of the lungs are an important diagnostic tool for individuals with cystic fibrosis (CF). However, CT scans expose an individual to radiation, and having many scans ... Read More

August is Spinal Muscular Atrophy Awareness Month. Spinal muscular atrophy (SMA) is a motor neuron disease that affects the voluntary muscles in the body, such as those used for walking, ... Read More