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In just 5 years, gene discovery to clinical trial of potential treatment
Date:12/14/2008

One of the fastest translations of a basic research discovery into a promising clinical trial for an "untreatable" and fatal disorder will be discussed publicly for the first time by the key players in this remarkable research story, on Sunday, Dec. 14, at the American Society for Cell Biology (ASCB)'s annual meeting in San Francisco.

The disease is Progeria, or Hutchinson-Gilford Progeria Syndrome (HGPS), a rare, accelerated aging disease that afflicts children.

The discovery of the gene responsible for the disease five years ago led scientists to the experimental drug that is now being evaluated in 28 children with this "premature aging" disease.

Speaking at the special ASCB session will be the physician heading the clinical trial, the gene-hunter whose research team pinpointed the DNA mutation, and the cell biologist who conducted the basic research on the protein structures in the cell nucleus that were subsequently found to be abnormal in HGPS.

Also on the panel will be the medical director of the Progeria Research Foundation who is both a scientist and the mother of a child with HGPS.

In addition to describing this bench-to-bedside story, the ASCB special symposium will spotlight new research suggesting that the basic cellular mechanism defective in children with HGPS may be at work in "normal" aging disorders, particularly in cardiovascular disease.

HGPS is estimated to affect about one child in 4 million. At birth, children with the disease appear normal. However, their growth soon slows, and children with HGPS begin to show signs of accelerated aging, such as hair loss, wrinkled skin, and loss of body fat. A 10-year-old child with HGPS typically looks like an 80-year-old adult.

HGPS' lethal damage occurs within the major blood vessels. The children develop premature cardiovascular disease, which typically leads to death from heart attack or stroke at about the age of 13. There currently
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Contact: Cathy Yarbrough
sciencematter@yahoo.com
858-243-1814
American Society for Cell Biology
Source:Eurekalert

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