Researchers at the University of Rochester Medical Center have been investigating a synthetic chemical compound called ASC-J9 that is loosely based on a compound found in curcumin (the bright yellow ... Read More

Twin infants usually develop in one of two ways: either a single fertilized egg becomes two separate embryos that grow (producing identical twins), or two separate fertilized eggs grow side-by-side ... Read More

Juberg-Marsidi syndrome is an inherited disorder caused by a genetic mutation on the X (female) chromosome. It is extremely rare and little is known about how often it occurs.

A genetic mutation is responsible for an inherited type of blindness called retinitis pigmentosa. The disease causes damage to the light sensitive area in the back of the eye called ... Read More

On Friday, March 16, 2007, the U.S. Food and Drug Administration (FDA) approved Soliris (eculizumab) for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), a disorder in which abnormal breakdown of ... Read More

Wolman disease is an inherited fat storage disorder of chromosome 10 caused by deficiency of the enzyme lysosomal acid lipase in the body. Without the enzyme, fats, including cholesterol, build ... Read More

When poliovirus infects a cell, it destroys it and moves on to attack surrounding cells. Stony Brook University researchers thought this property of the virus could be used to kill ... Read More

The Vasculitis Clinical Research Consortium, part of the Rare Diseases Clinical Research Network, is recruiting volunteers for the following studies of vasculitis (blood vessel inflammation) disorders. Longitudinal Protocol for Giant Cell ... Read More

On March 8, 2007, the U.S. House Subcommittee on Health held a hearing on H.R. 493, the Genetic Information Nondiscrimination Act of 2007. Those who testifed before the subcommittee that ... Read More

Sialidosis is an inherited glycoprotein (lysosomal) storage disease. In sialidosis, the enzyme alpha-neuraminidase is deficient, which causes a buildup of toxic compounds in cells throughout the body. There are four ... Read More

In some individuals with seizure disorder (epilepsy), the seizures occur in response to a specific stimulus. This is called reflex epilepsy, and it is rare, occurring in less than 1% ... Read More

Researchers at the University of Minnesota, Minneapolis, investigated the use of N-acetyl-L-cysteine (NAC) before and after stem cell (bone marrow) transplant in three boys with advanced adrenoleukodystrophy (ALD), a neurological ... Read More

West Nile virus is an infection usually spread by mosquitoes that affects the brain and central nervous system. The Procleix WNV Assay was developed to detect West Nile virus in ... Read More

Friedreich’s ataxia is an inherited genetic disorder of chromosome 9. It is a slowly progressive disorder of the nervous system and muscles, and results in the inability to control voluntary ... Read More

For quite some time scientists have been interested in the relationship between group A streptococcal infections (GAS) and movement disorders (such as Tourette syndrome), abnormal behavior (such as grimacing or ... Read More