Robert Thompson Stone, MD Awarded Rosenau Family Research Foundation Grant for Krabbe Disease

December 10, 2025

The University of Rochester announced today that Robert Thompson Stone, MD, Associate Professor of Neurology and Pediatrics and Director of the URMC Leukodystrophy Care Center, has been awarded a three-year, $155,000 Investigator Grant from the Rosenau Family Research Foundation to develop GenoKrabbe: A Comprehensive Genotype-Phenotype Database for Krabbe Disease.

The GenoKrabbe project will establish the first multi-institutional, patient-accessible database designed to link newborn screening results, genetic information, clinical features, diagnostic testing, social determinants of health, and long-term outcomes for individuals affected by Krabbe disease. This effort will serve the growing national need for data-driven guidance as Krabbe newborn screening expands across the United States. With Krabbe disease newly approved for inclusion on the Recommended Uniform Screening Panel (RUSP), the number of infants identified presymptomatically is expected to rise significantly—highlighting urgent gaps in classification, prognosis, and treatment pathways.

“GenoKrabbe will be the first multi-institutional database, and the first that allows families and advocacy groups direct access to data,” said Dr. Stone. “We need to understand how best to classify and treat all the children found positive on newborn screening, especially as it’s set to expand. The project will set the stage for a huge leap forward in our ability to come together as a community and grow our knowledge and skills to help the next generation of families affected by this terrible condition.”

GenoKrabbe will be developed in collaboration with national Krabbe specialists, patient advocacy organizations, and clinical partners across multiple institutions, including University of Minnesota. Its design emphasizes transparency, community inclusion, and accessibility—allowing clinicians, researchers, and families to contribute to and benefit from a unified, high-quality data resource. The project includes retrospective and prospective data collection and integration of clinical and biochemical markers.

About Krabbe Disease

Krabbe disease is a rare, inherited leukodystrophy that leads to progressive damage of the nervous system and death in early childhood for those with the most severe form. Its onset can range widely—from infancy to adulthood—and predicting disease severity based solely on genotype remains a major challenge. As more states implement newborn screening for Krabbe disease, improved tools for risk assessment and care decisions are critically needed.

About the Rosenau Family Research Foundation

The Rosenau Family Research Foundation is dedicated to improving the lives of individuals affected by Krabbe disease and cystic fibrosis through strategic investments in research, advocacy, and community support. Inspired by the Rosenau family’s personal journey, the Foundation prioritizes projects that accelerate treatments, enhance diagnostic accuracy, and empower affected families. Their mission-driven approach centers on collaboration, transparency, and supporting research that leads to immediate and meaningful patient impact. More information is available at rosenaufoundation.org.