During my pediatric neuropsychology fellowship I developed clinical expertise in neurobehavioral aspects of pediatric disease, in particular the cognitive late effects of cancer. Now in the Pediatric Clinical Research Office, 70% of my time has been devoted to practical experience in the design and conduct of neuropsychology research protocols within the context of pediatric disease, including clinical trials. I have a growing interest in neurodegenerative diseases of childhood, which stems from my work in juvenile neuronal ceroid lipofuscinosis (JNCL). There are few pediatric neuropsychologists with expertise in this field. I will need additional skills and knowledge to accomplish my major goal: to be a leading neuropsychologist in neurodegenerative disorders of childhood. My short term goals are to 1) increase my knowledge of research design and statistical methods for analysis of longitudinal and outcomes data, including in an experimental therapeutics context, 2) gain skills for reliable evaluation of disease-specific outcomes, 3) better understand neurological and neuropathological biomarkers pediatric neurodegenerative disease, and 4) improve knowledge of disciplines relevant to collaborative research in this field (biochemistry, genetics, neurology). My research focus during this K23 award period is to comprehensively determine the neurobehavioral phenotype and natural history of JNCL. Limited data suggests that neurobehavioral deficits precede onset of other clinical symptoms in some affected children. Research on the emergence of neurobehavioral deficits and their relationship to other aspects of disease has been limited. Thus, the specific research aims are to 1) better characterize the natural history and progression of neurobehavioral symptoms in JNCL, 2) understand the relationship among neurobehavioral function and other aspects of disease and disease progression, and 3) establish and longitudinally study the first cohort of children at-risk for JNCL. These findings will lead to standardized methods to evaluate treatment outcomes in future experimental therapeutics trials, and for current symptomatic treatments, even during the earliest phases of clinical disease. More broadly, this research will serve, as a model for investigations in other pediatric neurodegenerative diseases, and will facilitate my development as an independent investigator and leader in this field.
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