Andrea Gropman, MD

Advances in genome sequencing and neuroimaging have brought neurogenetics to the forefront of scientific research. As translational neurogeneticists, my team uses these tools to study the biomarkers underlying neurometabolic conditions affecting central nervous system function. Biomarkers of disease are relevant because some patients diagnosed with neurometabolic conditions may not experience symptoms until significant brain damage has occurred, and few treatments are available. That is why it is crucial to recognize brain injury at its earliest stages. Multimodal neuroimaging allows a look into these processes. 

Working in collaboration with mitochondrial and cancer researchers, as well as colleagues at the Center for Experimental Neurotherapeutics (CENT), which is part of the St. Jude Pediatric Translational Neuroscience Initiative (PTNI), we study the genome and the nervous system to identify biomarkers in various neurometabolic diseases including urea cycle, mitochondrial, Glut-1 deficiency, maple syrup urine disease, galactosemia, PKU and leukodystrophies. With that, we can not only monitor patients’ disease but also assess how a given therapy affects the trajectory of their disease.

My work in neurometabolic disease builds on over 25 years of research at Children’s National Hospital in Washington, D.C., as well as with the North American Mitochondrial Disease Consortium and the Urea Cycle Disorders Consortium, where I serve as principal investigator. The Urea Cycle Disorders Consortium includes 16 research sites in the United States, Canada and Europe, all with significant experience in urea cycle disorders, and all committed to understanding the natural history of the disease, developing therapies and connecting patients to new therapies.

In addition to my work under the consortiums and my neurometabolic and mitochondrial research, I will continue my work on Mendelian disorders at St. Jude. These single-gene disorders are associated with neurodevelopmental disabilities such as Smith Magenis syndrome, which is a neurodevelopmental disorder that is associated with autism, developmental disability, a circadian sleep disorder, alterations in cholesterol processing, self-injurious behavior and neuropathy, as well as an adult-onset hereditary benign tumor syndrome called Birt Hogg Dube syndrome. 

By establishing a research program at St. Jude focused on rare neurometabolic disease, more patients in the southeastern United States will have an opportunity to participate in investigator-initiated research and clinical trials. Participation enables us to better understand the nuances and neurologic aspects of these diseases as well as their impact on cognition and neurological function. This understanding helps researchers develop safe, effective, personalized treatments. 

Andrea Gropman, MD, leads Neurometabolic Translational Research, which is part of the Center for Experimental Neurotherapeutics in the St. Jude Pediatric Translational Neuroscience Initiative (PTNI). As principal investigator of the Urea Cycle Disorders Consortium, Gropman has helped bring two new treatments to market as well as advanced understanding of these diseases by identifying brain biomarkers. She earned her MD from the University of Massachusetts Medical School and completed a pediatric residency at Johns Hopkins, followed by fellowships in child neurology and biochemical and clinical genetics at Children’s National Hospital in Washington, D.C., and The National Institutes of Health in Bethesda, MD.

Affiliations