This month, we are featuring Robert Thompson Stone, MD, who was awarded a $155,000 Rosenau Family Research Foundation grant in 2025 for his project titled “GenoKrabbe: A Comprehensive Genotype-Phenotype Database for Krabbe Disease”, which aims to establish the GenoKrabbe Database—a stakeholder informed, multi-institutional, web-based platform designed to collect, organize, and analyze data from individuals who screened positive for or were diagnosed with Krabbe Disease. This platform will allow for more accurate classification and prediction models for screen positive individuals, and improved counseling and decision-making regarding use of disease-modifying therapies. The project will help foster multi-institutional collaboration and strengthen connections across the Krabbe Disease community.
Robert Thompson Stone, MD is an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center and Director of the UR Leukodystrophy Care Center. A pediatric neurologist with expertise in immune-mediated disorders of the nervous system, inherited disorders of white matter, and neurologic complications of childhood brain tumors, Dr. Stone has developed a. particular national role in the care and longitudinal follow-up of children identified with Krabbe disease through newborn screening.
Dr. Stone is the lead author of consensus recommendations for the classification and follow-up of infants who screen positive for Krabbe disease, work that has shaped clinical decision-making as newborn screening expands across the United States. His research and clinical efforts focus on understanding the early phenotypes of presymptomatic infants, improving the accuracy of risk stratification, and ensuring that families receive consistent, evidence-based guidance during the critical early months of life.
He is the co-Principal Investigator of GenoKrabbe, a project to create the first multi-institutional, patient-accessible genotype–phenotype database for Krabbe disease— linking newborn screening results, genetic variants, clinical features, diagnostic testing, biochemical markers, social determinants of health, and long-term outcomes.