Wiskott-Aldrich syndrome is a severe immunodeficiency present at birth which also causes low numbers of blood platelets and eczema. As many as 40% of individuals with the syndrome may develop ... Read More

It has been known for several years that the product of the gene responsible for Fragile X syndrome regulates the expression of other proteins in nerve cells. How this relates ... Read More

Misfolded and damaged proteins are common to all human neurodegenerative diseases. A team of Northwestern University researchers studying Huntington's disease discovered that the Huntingtin protein severely interferes with the function ... Read More

This complex disorder may develop as a result of injury, surgery, or disease. It consists of unexplained widespread pain in a part of the body away from the injury, and ... Read More

Researchers from the Robert Packard Center for ALS Research at Johns Hopkins have reported that human primitive spinal cord cells implanted in the spinal cords of rats with amyotrophic lateral ... Read More

For the past three decades scientists have believed that a particular genetic region of chromosome 21 was a critical factor in Down syndrome (Trisomy 21). Researchers at Johns Hopkins' Institute ... Read More

These are my picks for the emerging trends and issues in orphan drug research and biotechnology in the U.S. in 2005. New drugs, biotech start-ups and mergers, FDA and pharmaceutical ... Read More

Two separate research teams--one at the University of California, San Diego School of Medicine (UCSD), the other at Harvard Medical School--have concurrently identified the same gene responsible for a form ... Read More

Immunologists at Duke University Medical Center have serendipitously developed mice with Sjogren syndrome, an autoimmune disorder. The researchers were exploring the role of a regulatory protein called Id3 and its ... Read More

These orphan drugs (specialty drugs to treat rare disorders or conditions) were approved by the U.S. Food and Drug Administration (FDA) for marketing in the U.S. in 2004. Internet links ... Read More

On December 28 , 2004, the U. S. Food and Drug Administration (FDA) granted marketing approval for clofarabine (Clolar) for treatment of pediatric patients 1 to 21 years old with ... Read More

FX Networks broadcast the made-for-TV movie "Smallpox" on Sunday, January 2, 2005. It was produced in documentary style as a look back on a fictional smallpox outbreak that occurred in ... Read More

This rare syndrome, identified in 2004, is characterized by a variety of problems, including potentially fatal heart rhythm disturbances. Children born with Timothy syndrome also develop cognitive problems and autism.

In 2003, researchers from Duke University Medical Center and the Howard Hughes Medical Institute published a study which demonstrated a genetic basis for a fatal form of inherited heart rhythm ... Read More