Investigators from Hunter James Kelly Research Institute have created a mathematical tool that could significantly improve newborn screening for Krabbe disease. Furthermore, this research could also assist in finding treatments for other neurodegenerative conditions like Parkinson’s and multiple sclerosis.
Lawrence Wrabetz, head of the Myelin Biology Unit at San Raffaele Scientific Institute in Milan and Laura Feltri have both been recruited by University at Buffalo through an agreement with Hunter’s Hope Foundation – the charitable organization established by Buffalo Bills Hall-of-Famer quarterback Jim Kelly and his wife.
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Lawrence Wrabetz and Laura Feltri of Milan’s San Raffaele Scientific Institute’s myelin biology unit and neuroglia unit respectively have been recruited by Hunter’s Hope Foundation – founded by Hall-of-Famer quarterback Jim Kelly and Jill Kelly to study Krabbe disease, an inherited fatal disorder which impairs nerve cell function – to work as a team at HJKRI.
HJKRI is housed at the UB Center of Excellence for Bioinformatics and Life Sciences on the Buffalo Niagara Medical Campus.
The Hunter James Kelly Research Institute
Hunter James Kelly Research Institute at UW Medicine was created in memory of Jim Kelly, Hall-of-Famer of Buffalo Bills Football Team. The Institute is engaged in basic and translational research on myelin (white matter), the protective covering surrounding nerve fibers in the brain that’s crucial to proper nervous system function. HJKRI hopes that its research will lead to methods of repairing damage caused by Krabbe disease, an inherited neurodegenerative condition known for tremors, movement issues, vomiting, seizures, mental retardation and blindness. Lawrence Wrabetz MD from San Raffaele Scientific Institute Milan Italy as head of myelin biology unit will relocate this fall with Laura Feltri who leads neuroglia unit and serves as his spouse – two individuals that may help lead this research forward.
Krabbe Disease
Research team are actively trying to better understand this disease, with its symptoms including severe irritability, difficulty eating, rigid body posture that includes arms and legs held out straight with heads and necks arched back (decerebrate posturing), loss of control over movement, weakness and periods of stopped breathing. It affects both central and peripheral nervous systems which control all voluntary and involuntary functions within the body.
Krabbe Disease, also known as Globoid Cell Leukodystrophy and Krabbe’s Leukodystrophy, affects people who lack the GALC enzyme necessary to produce myelin – an insulating sheath covering and protecting nerve cells in the brain and spinal cord that carries information to limbs and organs. Without myelin production, the nervous system cannot transmit information quickly or properly, leading to progressive muscle weakness, vision/hearing loss, seizures and mental regression.
Krabbe Disease is a genetic condition caused by inheriting an enzyme deficiency known as GALC from their biological parents, increasing risk by 1 out of 4. If two carriers give birth, their child has a one in four chance of inheriting Krabbe disease and newborn screening can be available through some states and the federal Supplemental Newborn Screening program.
At present, it takes an estimated three to five years for new diseases to be added to the federal Recommended Uniform Screening Panel (RUSP), on which state health departments must agree before screening can commence. To speed this process up, the foundation has advocated for legislation aligning RUSP across states.
Research Collaboration
Researchers from the Hunter James Kelly Research Institute are joining forces with colleagues in Italy and England to gain more insight into a protein found misfolded in patients suffering from Charcot-Marie-Tooth disease (CMT) or other leukodystrophies, possibly leading to new therapeutic approaches for these conditions.
The Kelly Institute recently recruited two physician-scientists from Milan’s San Raffaele Scientific Institute: Lawrence Wrabetz, MD who leads their myelin biology unit and Laura Feltri as neuroglia unit head have extensive basic and translational research experience on myelin (white matter) which protects nerve fibers in the brain and spinal cord.
They have already developed a computer model which could, in theory, limit false positive rates in newborn screening for Krabbe disease to an infinisimal level. It uses GALC enzyme activity in blood as well as psychosine measurements as its basis.
