Kristopher Kahle, M.D., Ph.D.

Director, Pediatric Neurosurgery, Massachusetts General Hospital

SFARI Investigator Website

Kristopher Kahle is the director of pediatric neurosurgery at Massachusetts General Hospital. His primary clinical practice focuses on disorders of neurodevelopment and tumors of the pediatric brain and spinal cord. Kahle’s research focuses on the identification of genes and pathways that regulate ion and water homeostasis in the developing nervous system, and how changes in these processes contribute to the cellular, circuit and behavioral abnormalities in neurodevelopmental disorders and in the traumatized brain. The goal of his work is to translate advances in basic science into novel therapeutic strategies for pediatric neurosurgical diseases.

Funded Projects

Restoring GABA inhibition in a Rett syndrome mouse model by tuning a kinase-regulated Cl- rheostat

Awarded: 2016
Award Type: Pilot

SFARI Funded Publications

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus. Singh A.K., Viviano S., Allington G., McGee S., Kiziltug E., Mekbib K.Y., Shohfi J.P., Duy P.Q., Tyrone DeSpenza J., Furey C.G., Reeves B.C., Smith H., Ma S., Sousa A. M. M., Cherskov A., Allocco A., Nelson-Williams C., Haider S., Rizvi S.R.A., Alper S., Sestan N., Shimelis H., Walsh L.K., Lifton R.P., Moreno-De-Luca A., Jin S.C., Kruszka P., Deniz E., Kahle K.

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Barak T., Ristori E., Ercan-Sencicek A.G., Miyagishima D.F., Nelson-Williams C., Dong W., Jin S.C., Prendergast A., Armero W., Henegariu O., Erson-Omay E.Z., Harmancı A.S., Guy M., Gültekin B., Kilic D., Rai D.K., Goc N., Aguilera S.M., Gülez B., Altinok S., Ozcan K., Yarman Y., Coskun S., Sempou E., Deniz E., Hintzen J., Cox A., Fomchenko E., Jung S.W., Ozturk A.K., Louvi A., Bilgüvar K., Connolly E.S. Jr., Khokha M.K., Kahle K., Yasuno K., Lifton R.P., Mishra-Gorur K., Nicoli S., Günel M.

PTEN mutations in autism spectrum disorder and congenital hydrocephalus: Developmental pleiotropy and therapeutic targets. DeSpenza T. Jr., Carlson M., Panchagnula S., Robert S., Duy P.Q., Mermin-Bunnell N., Reeves B.C., Kundishora A., Elsamadicy A.A., Smith H., Ocken J., Alper S.L., Jin S.C., Hoffman E., Kahle K., Valdivia Espino J.