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Our current research focuses on the juvenile form of Batten disease (JNCL) due to mutations in the CLN3 gene. Our research falls into 4 basic categories:
- Natural History. The goal is to better understand how the disease progresses, how different symptoms interact to cause disability, and to identify potential mitigating factors. We have developed the Unified Batten Disease Rating Scale (UBDRS) to evaluate the severity and rate of change in the cardinal symptoms of JNCL. This tool allows us to study the clinical aspects of JNCL quantitatively and to measure the effects of future therapies on these symptoms.
- Neurobehavioral and Neurocognitive Features. The goal of this research is to define the specific behavioral and cognitive features of JNCL and to develop strategies to minimize the impact of these symptoms on the quality of life of children with JNCL.
- Determinants of JNCL severity. Our studies to date have demonstrated that some individuals with JNCL have a milder course and others have a more rapidly progressive course. This variability seems not to be determined simply by different specific mutations in the CLN3 gene. We are working to determine what factors do determine disease severity.
- Experimental Therapeutics. A major emphasis of our research is to design and carry out meaningful clinical trials of promising therapeutic agents in JNCL. We work closely with David Pearce, PhD and his laboratory on translational research in Batten disease. Results from his research on pre-clinical models of CLN3 disease have suggested promising agents for modifying the disease course in children with JNCL.
Our overarching goals are to provide better knowledge about the clinical manifestations of Batten disease, and to develop and test meaningful therapeutics for children with Batten disease.
