UNIVERSITY OF PITTSBURGH SCIENTISTS TO DISCUSS GENETIC RESEARCH WITH BUFFALO BILLS HALL OF FAME QUARTERBACK JIM KELLY
Kelly and his wife, Jill, promote research on Krabbe disease through a foundation, Hunter's Hope, dedicated to their 5-year-old son
PITTSBURGH, Mar 19, 2002 –- Buffalo Bills Hall of Fame quarterback Jim Kelly and his wife, Jill, have learned to seek joy in each day they have with their 5-year- old son, Hunter, who was diagnosed with Krabbe disease as an infant.
The couple will visit University of Pittsburgh Medical Center (UPMC) Wednesday, March 20, to meet with researchers John Barranger, MD, PhD, professor of human genetics and molecular genetics and biochemistry, University of Pittsburgh Graduate School of Public Health and the University of Pittsburgh School of Medicine, and Andrew Yeager, MD, professor of medicine and pediatrics at Pitt and director of stem cell transplantation at the University of Pittsburgh Cancer Institute.
"Jill and I are glad to be able to visit Pittsburgh to call attention to this devastating condition," said Kelly, a native of East Brady, PA., who played with the Buffalo Bills from 1986 to 1996, leading the team to four consecutive Super Bowl games. "We hope that the people we meet here will learn something from us that could lead to new research initiatives."
UPMC is sponsoring the Kellys' visit to Pittsburgh to address scientists and researchers from across the globe during the second annual Engineering Tissue Growth International Conference and Exposition. The conference is taking place March 19 to 21 at the Westin Convention Center Hotel. Krabbe disease (pronounced Krahb-a), also known as Globoid-Cell Leukodystrophy, is a rare genetic disorder caused by an enzyme deficiency. The disorder leads to the improper formation of nerve fibers in the brain and peripheral nervous system. It is in a class of inherited metabolic defects called lysosomal storage disorders and results in the gradual destruction of myelin, a fatty substance that surrounds and protects nerve fibers. Myelin is vital to keep the nervous system's electrical communications network functioning smoothly. In its infantile form, Krabbe disease is progressive and fatal, typically causing digestive problems, muscle weakness, unexplained fevers, paralysis and loss of sight and hearing before death - often before age 2.
Dr. Barranger and his colleagues have been studying lysosomal storage disorders for nearly 30 years. His research focuses on developing diagnostic tools and treatments, as well as finding appropriate gene transfer therapy associated with enzyme replacement.
"We were the first to develop a treatment for Gaucher disease that works beautifully well," said Dr. Barranger. "Patients with Gaucher are nearly disease free if properly treated. The oldest one we've followed is now 23 years old, and has little sign of the disease."
Also caused by an enzyme deficiency, Gaucher disease leads to an accumulation of fatty compounds in the liver, spleen, lymph nodes and nervous system. If untreated, it is fatal. Patients require an infusion of a genetic-based treatment biweekly, but many do well, Dr. Barranger said.
"The approaches we are taking to lysosomal diseases that involve a neurodegenerative course, such as Krabbe, require a bit more work," he added. "The challenges are greater."
Since 1984, Dr. Yeager has directed and published some of the seminal animal studies of bone marrow transplantation therapy for Krabbe disease.
Bone marrow transplantation has been shown to be effective in eliminating the key enzyme deficiency that causes the cascade of nerve damage. However, the therapy cannot reverse damage that has already taken place.
"More research is necessary to refine possible treatments for this disease," said Dr. Yeager.
For more information on Krabbe disease and the Hunter's Hope Foundation, visit http://www.huntershope.org.
For information on the Engineering Tissue Growth conference, see http://www.etg-online.com.
# # #