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The development and maintenance of the mammalian nervous system is regulated by a highly orchestrated series of cellular and molecular events. When these processes become disrupted by genetic mutation, disorders of the brain and nerves arise. One of the most common of these neurogenetic disorders is Neurofibromatosis type 1 (NF1), in which children are at risk for brain and nerve tumors, vision loss, learning problems, autism, and developmental disabilities.

For the past 25 years, the Gutmann laboratory has focused on discovering the genomic, genetic, cellular and molecular determinants that cause nervous system dysfunction in people with NF1 using a combination of novel genetically engineered mice and human induced pluripotent stem cells. The goal of this work is not only to establish new treatments for individuals with NF1, but also to better understand similar medical problems in the general population. Moreover, as a neurologist who cares for children and adults with NF1, Dr. Gutmann seeks to identify the factors that underlie nervous system disease heterogeneity relevant to the implementation of precision (personalized) medicine strategies.

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