2001

Identification of Gene Furthers Understanding of Blood Clotting System

CINCINNATI -- Researchers in a national, multi-center study, conducted in part at Children's Hospital Medical Center of Cincinnati, have identified a gene involved in TTP, a potentially fatal blood disorder. The finding is not only significant for treating TTP but also furthers our understanding of blood clotting in general.


The study will be published in the October 4 issue of the journal Nature.


TTP (thrombotic thrombocytopenic purpura) is a genetic disorder in which a clotting protein called von Willebrand factor (VWF) and clumps of blood cells called "platelets" gather in the small blood vessels of many organs, including the brain and kidneys. VWF normally helps recruit platelets to start making a clot, but this happens abnormally in TTP, creating unwanted blood clots.


The finding adds significantly to our understanding of how the disease might be treated better and to our general knowledge of the molecules involved in the blood clotting system, according to William Nichols, Ph.D., a researcher in Cincinnati Children's division of Human Genetics. Dr. Nichols conducted the study at Cincinnati Children's along with Ralph Gruppo, M.D., director of the Hemophilia and Thrombosis Center at Cincinnati Children's.

Contact Information

Jim Feuer (jfeuer@chmcc.org, 513-636-4656)