Paola Luzi, PhD, a Research Instructor in the Department of Neurology at Jefferson Medical College (JMC), recently received an award of $30,000 from the Hunter’s Hope Foundation of Orchard Park, NY. The grant will support Dr. Luzi’s pilot research into gene therapy that may provide a novel delivery system for treatment of Krabbe disease.

Krabbe disease (Globoid-Cell Leukodystrophy) is a genetic disorder resulting from the deficiency of the lysosomal enzyme galactocerebrosidase (GALC), and is characterized by the progressive loss of central and peripheral myelin (a protective covering that insulates nerve cells), which leads to early death.

The most common form of this disease affects babies, who usually die by 2 years of age. Krabbe disease also affects older children and adults.

Presently, there is no cure for this condition, and treatment has been limited to cold blood and bone marrow transplantation in presymptomatic and later-onset patients. The gift from Hunter’s Hope will enable Dr. Luzi and her colleagues to investigate the promising possibility of gene therapy for the disease.

Hunter’s Hope was founded in 1997 by Jim Kelly, retired NFL quarterback for the Buffalo Bills and now an ESPN NFL sports commentator, and his wife, Jill, after their infant son, Hunter, was diagnosed with Krabbe disease. Mr. and Mrs. Kelly decided to share Hunter’s story to increase public awareness of this disease and other Leukodystrophies (which cause degeneration of the white matter of the brain), to raise funds to help find a cure, and to encourage parents to give their children more time and love.

“Hunter and his family are an inspiration, and Jefferson is honored that Dr. Luzi has received this award,” said Joseph S. Gonnella, MD, Senior Vice President for Academic Affairs at the University and Dean of JMC. “Private support from organizations such as Hunter’s Hope is very important to the success of Jefferson’s research programs.”

To date, Hunter’s Hope has raised more than $2 million to benefit research on Krabbe disease. Hunter is now over 2 years old and his parents are optimistic that he will celebrate his third birthday. To learn more about his story, contact the Hunter’s Hope Foundation at 1-877-984-HOPE.

Visit The Jefferson 2000 Fund website at http://www.tju.edu/jeffgiving/

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