Buck Institute researchers fix Huntington's Disease mutation in mouse study

Researchers at the Buck Institute fixed the genetic mutation that causes Huntington’s Disease, raising hopes of eventually reversing and curing the inherited brain-wasting disease in humans.

The work, using induced pluripotent stem cells in the lab of Lisa Ellerby at the Buck Institute for Research on Aging in Novato, is early stage and currently is using mice. The therapy has not been tested in humans, and the lab continues to see if mice transplanted with corrected cells have functional improvements.

But in a paper published online Thursday in the journal Cell Stem Cell, Ellerby’s lab details how it used reverse-engineered cells from a Huntington’s patient, made a genetic correction and generated fresh neural stem cells. When the disease-free cells were transplanted into mice, the animals generated normal neurons in the area of the brain affected by Huntington’s.

“The thing that’s really neat about this in any disease (is) you really are correcting the mutation,” Ellerby said. “You’re fixing the problem.”