The Kahle Lab conducts both human genetic and basic science research. Our research relies on the enthusiasm and generosity of the patients and families who volunteer to be a part of our work. Participants who contribute to our research gain knowledge about their own condition and enter a community of committed caregivers, passionate scientists, and other concerned parents. The overarching goal of our work is to translate basic science advances into better options for the diagnosis, management, and treatment of pediatric neurosurgical diseases and, in the process, train the next generation of neurosurgeon-scientists.

 

We are interested in the fundamental mechanisms directing human brain development that are relevant for pediatric neurosurgical diseases. These historically understudied conditions, treated with invasive and often morbid brain surgeries, include congenital hydrocephalus, Chiari malformation, cerebrovascular anomalies, and other structural brain malformations. By studying individuals and families affected with these conditions, and identifying the associated genes and their mutations, we can learn about the biological mechanisms that are important for development of the human brain, and identify potential therapeutic targets.

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We necessarily employ a multidisciplinary approach that brings together neurosurgeons, neuroradiologists, pediatricians, neurologists, and basic scientists. We use human genetics (next-generation sequencing) coupled with the modeling of discovered mutations in systems such as mouse and fish. In these animals, we utilize physiology, cell biology, and biochemistry to study the pathogenic mechanisms and therapeutic vulnerabilities of specific patient mutations, including those of patients we treat in our own operating rooms.

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