-
Student’s research aims to uncover new biomarkers for Krabbe disease
Share this:
Krabbe disease is a rare, inherited neurological disease that most commonly affects infants, but can also present later in life, including during adolescence and very rarely in adulthood, according to the NIH's National Institute of Neurological Disorders and Stroke. Current clinical laboratory testing identifies individuals with Krabbe disease, but it is challenging to provide a prognosis of the disease course. Symptoms include mental and motor skill weakness and deterioration, seizures, blindness and deafness.
"There's a need for biomarkers that can help differentiate infantile from later-onset forms of disease in a presymptomatic individual," said Devin Oglesbee, Ph.D., a consultant in the Division of Laboratory Genetics and Genomics’ Clinical Biochemical Genetics Laboratory. "Developing new clinical assays for rare genetic disorders will help us get treatments to patients faster and before irreversible symptoms appear."
Mayo Clinic Graduate School of Biomedical Sciences predoctoral candidate Rachel Wurth is working with Dr. Oglesbee and the Clinical Biochemical Genetics Laboratory on research that aims to discover new disease biomarkers that will complement current laboratory testing to improve the diagnosis and prognosis of Krabbe disease.
"Our laboratory has a longstanding interest to improve the diagnosis of Krabbe disease," says Wurth. "My project aims to continue this effort by evaluating changes in many metabolites at once with a technique called untargeted metabolomics. Being able to conduct this research within the clinical laboratory provides an exciting opportunity to streamline translation and allow patients to benefit from research findings more quickly."
The outcomes of this research could lead to improvements in the diagnosis of Krabbe disease, predicting the course of disease and improving understanding of what changes in metabolism contribute to the condition.
Wurth recently was awarded a multi-year grant from Minnesota-based Rosenau Family Research Foundation. Paul and Susan Rosenau's granddaughter lost her battle with Krabbe disease at 2 years of age. Their family’s foundation specifically supports research on Krabbe disease and cystic fibrosis. The award is $112,718 over two years.
