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NewsA landmark $7.6M NIH grant is fueling research into polyaminopathies — a group of rare genetic disorders causing neurodevelopmental challenges. Michigan State University and Corewell Health's joint Center for Polyamine Disorders will use the funding to improve diagnosis, develop treatments, and train the next generation of rare disease researchers. Early work has already shown promise, with a repurposed drug reversing key disease features in five patients.
A first-of-its-kind $7.6 million NIH U54 grant has been awarded to Michigan State University College of Human Medicine and Corewell Health to supercharge research into polyaminopathies — a group of rare genetic disorders that cause neurodevelopmental issues and other distinctive features. The grant will support the Center for Polyamine Disorders (CPD), a collaborative hub studying five polyamine pathway-related conditions, including Bachmann-Bupp syndrome (BABS), which was discovered by the very researchers leading this work.
The funding will support a natural history study, biomarker analysis, molecular diagnostics, and career development for the next generation of rare disease scientists. Critically, it will also help push a promising treatment — difluoromethylornithine (DFMO), a drug historically used for sleeping sickness and neuroblastoma — closer to formal approval after it successfully reversed key BABS features in five patients.
Key Takeaways:
Why it matters: Rare diseases often languish without dedicated funding or research infrastructure. This grant not only accelerates the path to an approved treatment for BABS and related disorders, but also models how academic-clinical partnerships can drive breakthroughs for underserved patient populations.