![Understanding a Rare Disorder]()
The National Institute of Neurological Disorders and Stroke has awarded E. Richard Stanley, Ph.D., a five-year $2.5 million grant to study a rare neurodegenerative disorder called adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Caused by dominant inactivating mutations in the Csf1r gene, ALSP leads to adult-onset dementia, motor dysfunction and epilepsy. Dr. Stanley’s lab has developed a hemizygous Csfr1+/- mouse model that mimics the behavioral, radiologic and histopathologic characteristics of ALSP. As they have shown that the CSF-1R regulates the development and maintenance of all microglia, as well as the differentiation and survival of neurons, they will use the model to study how CSF-1R deficiency in each cell type contributes to disease development. A key goal of the research is to identify novel therapeutic targets for slowing or preventing ALSP’s progression. Dr. Stanley is professor of developmental and molecular biology and holds the Renée E. and Robert A. Belfer Chair in Developmental Biology.
Posted on: Wednesday, December 23, 2015