This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of 1:5000 live births. A significant proportion of patients with white matter disease remain undiagnosed after conventional neuroimaging, biochemical, and genetic testing. This study aims to build molecular biochemical pathways of the leukodystrophies.
Specific Aim 1. To collect detailed clinical characterizations, including histories, physical examinations, biochemical tests, genetic studies, neurophysiologic and neuroimaging studies in patients with leukodystrophies to better comprehensively characterize such patients and obtain comparative clinical profiles.
Specific Aim II. To develop disease specific profiles and leukodystrophy associated biomarkers in patients with unclassified leukodystrophies through genome-wide expression profiling and proteomic approaches and compare proteome or transcription profiles to patients with known forms of leukodystrophies.
Specific Aim III. To correlate comprehensive clinical characterizations of patients with unclassified leukodystrophies with state of the art diagnostic techniques to provide tools resulting in improved diagnosis, understanding of pathophysiology and therapeutic monitoring. Taken together, these investigations hope to provide fundamental knowledge improving the diagnosis and care of patients with unclassified leukodystrophies.
Showing the most recent 10 out of 203 publications
