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Grant aimed at early, accurate diagnosis of Krabbe disease, and aiding in the treatment of newborns
Congressman Brian Higgins announced the State University of New York at Buffalo was awarded a federal grant totaling $239,250 from the U.S. Department of Health and Human Services toward the goal of enhancing the accuracy of newborn screening for Krabbe disease.
"This federal investment will support exceptional research happening right here at the Hunter James Kelly Research Institute that is providing promising advancements toward achieving better detection and treatment for Krabbe disease," Higgins said.
Krabbe disease is diagnosed through a series of tests, which often includes a blood test to determine the level of GALC enzyme activity. Other tests can include a MRI, CT, nerve conduction study and genetic testing for mutation analysis. Effective newborn screening can lead to correct and early diagnosis and treatment. Patients diagnosed before the disease is too far progressed may be eligible for a cord blood transplant, which can halt the progress of the disease.
"This grant to the Hunter James Kelly Research Institute is aimed at improving diagnosis of Krabbe disease by newborn screening," said Thomas J. Langan, M.D., principal investigator on the grant, clinical director of the Hunter James Kelly Research Institute, and associate professor of neurology, pediatrics and physiology and biophysics at the Jacobs School of Medicine and Biomedical Sciences at UB. "One of the biggest challenges with newborn screening of Krabbe's disease is false positives, test results that suggest that a disease is present, when it actually is not."
Langan explained UB researchers at Hunter James Kelly Research Institute, the department of biostatistics in the UB School of Public Health and Health Professions and the department of neurology in the Jacobs School of Medicine and Biomedical Sciences have created a mathematical tool that, based on a computer simulation, would theoretically allow for the false positive rate from newborn screening to be limited to an infinitesimally small level - 1 in 100 million blood spots. The tool is based on not only the GALC enzyme activity, but also the measure of another toxin in blood called psychosine, both of which are associated with Krabbe disease.
"The purpose of the grant is to collect enough real data, that is, from drops of blood from a newborn's heel spotted onto filter paper, to test that simulation," explained Lawrence Wrabetz, director of the Hunter James Kelly Research Institute and professor of neurology and biochemistry at the Jacobs School of Medicine and Biomedical Sciences. "Currently, only New York, Missouri, Kentucky and Illinois are performing newborn screening for Krabbe disease, but other states will soon begin screening, emphasizing how important it is to solve this problem."
This work is collaboration between UB, New York State Laboratories at Wadsworth and the Mayo Clinic in Rochester, Minnesota. It is a direct result of the partnership between the Hunter James Kelly Research Institute and Hunter's Hope Foundation.