This very rare disorder causes an accumulation of plant sterols in the blood. Left untreated, it can lead to coronary artery disease.

Abnormal proteins called prions are the basis of mad cow disease (bovine spongiform encephalopathy) and its human counterpart, variant Creutzfeldt-Jakob disease (vCJD). A British company, Microsens, has developed the first ... Read More

The U.S. Food and Drug Administration (FDA) on May 19, 2004, approved the orphan drug azacitidine (trade name Vidaza, by Pharmion Corp.) for marketing as a treatment for myelodysplastic syndrome ... Read More

This syndrome is a combination of associated defects involving the eyes, nose, and ears, heart, genitals, and mental and growth retardation.

Mexican parents Salvador and Blanca Rosa de Leon Garcia had a big surprise this week--their baby, Pedro, was born weighing 13 pounds 6 ounces. Pedro was so large that he ... Read More

The April 21, 2004, episode of The Oprah Winfrey Show, entitled Medical Miracles, featured Jeff Matovic, a man with Tourette syndrome who is now free of the severe tics he ... Read More

Polycythemia vera is a chronic blood disorder in which red blood cells are overproduced, leading to blood thickening and an increased risk of blood clots. It can occur in people ... Read More

A new rare clinical syndrome, called hereditary chondrolysis, has been identified by researchers from Case Western University School of Medicine and University Hospitals of Cleveland. In the syndrome, cartilage loses ... Read More

Researchers at Saint Louis University School of Medicine and UCT/Groote Schuur Hospital in South Africa have identified a gene involved in retinitis pigmentosa, a hereditary form of blindness. How the ... Read More

Fragile X syndrome is the most common cause of inherited mental retardation. It results from a defect on the X (female) chromosome. Suspense writer Mary Higgins Clark is active in ... Read More

For many years, researchers have thought that people with Tourette syndrome, a neurological disorder characterized by abrupt movements called tics, have sensitivity to dopamine levels in the brain. In a ... Read More

The Associated Press has reported that the Reproductive Genetics Institute in Chicago has helped five families give birth to infants who were genetically screened and selected for their compatibility as ... Read More

An extra chromosome affects all the systems of the body. Many people are familiar with Trisomy 21 (Down syndrome), but fewer have heard of Trisomy 18 (Edwards syndrome). This may be because ... Read More