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Hunter James Kelly Research Institute - Basic Science
The Basic Science Research at the HJKRI focuses on discovering new insight and a more comprehensive understanding of Krabbe and similar diseases. The researchers at HJKRI create cellular and animal models to analyze the complex intricacies of the disease, to progress research from the animal model to clinical trials, and ultimately better treatments and a cure.Objectives
Lawrence Wrabetz, MD
Director, HJKRI & Professor of Neurology, University at Buffalo
The Wrabetz Laboratory is interested in the molecular genetics of myelination. Translating past experiences, this lab now focuses on the generation of new mouse models of Krabbe Disease that carry authentic galactosylceramidase (GalC) mutations found in patients with diverse clinical phenotypes. These animal models will provide insight into the effect of different mutations on the function of the GalC protein and on the pathogenesis of the disease.
M. Laura Feltri, MD
Professor of Biochemistry, University at Buffalo
The Feltri Laboratory investigates how cells and cell interactions contribute to development of the nervous system and myelination. Ultimately, the goal of this work is to translate basic science into a cure for demyelinating diseases, such as Krabbe and other Leukodystrophies.
Pablo M. Paez, PhD
Assistant Professor of Pharmacology & Toxicology, University at Buffalo
The Paez Laboratory focuses on brain development. Understanding the cellular and chemical properties of the brain opens doors to novel interventions for neurodegenerative diseases, such as Krabbe and other Leukodystrophies.
Yungki Park, PhD
Assistant Professor of Biochemistry, University at Buffalo
The Park Laboratory is working at the forefront of translational research. Utilizing advanced computational analysis and experimental laboratory methods, this team of researchers is investigating central nervous system myelination, with an ultimate goal of translating this knowledge to the treatment of demyelinating diseases, such as Krabbe.
The HJKRI is in the process of recruiting two additional Primary Investigators to study the cause, effects and potential therapies of Krabbe Disease, Leukodystrophies and other myelin related disorders. With a total of six Basic Science Laboratories, the HJKRI will solidify its place amongst myelin-focused research institutes.
Basic Science Activities
Pathology of Krabbe Disease
Pathology is the cause and effects of a disease. The Basic Science team at the HJKRI is working hard to determine how Krabbe Disease is caused and its specific effect on the brain, nervous system and the affected individual’s body as a whole.
Using cellular and animal models affected by these same diseases, researchers at the Institute are working to:
Second, if HJKRI scientists identified other toxins that cause Krabbe Disease, they would begin work on new ways to ‘detoxify’ them in the brain. Either the pathways that produce the toxins could be blocked, or once made, the toxins could be specifically broken down through chemical treatments.
Predicting disease onset, or when symptoms will occur, is crucial to ensuring Krabbe patients identified through newborn screening receive treatment at the optimal time. To improve doctor’s ability to diagnose and predict the severity and onset of the disease, we are studying other parts of the GALC gene that may suggest how the disease will unfold.
Using cellular and animal models, HJKRI researchers are investigating:
Better Treatments and a Cure for Krabbe and other Leukodystrophies
Currently, the only treatment available for Krabbe Disease is cord blood transplant, which has proven successful in halting the progression of the disease. While this life-saving treatment has given numerous affected children a chance at life, it is only available to those diagnosed before the onset of symptoms.
The HJKRI researchers are committed to improving the existing treatment, and to discovering new treatment options and ultimately a cure for Krabbe and all Leukodystrophies. Using cellular and animal models, HJKRI researchers are investigating: