New study reveals treatment pathway for neurofibromatosis

Author: McKnight Brain Institute

Published On: 05/23/2019

Neurofibromatosis 1 (NF1) is a genetic disorder that can cause disfiguring, fleshy growths to develop on or under the skin. Now, a national  team of researchers including James Wymer, M.D., Ph.D., a UF professor of neurology and director of the neuromuscular division, has identified a novel pathway for potential treatment of this distressing condition, which typically is diagnosed in childhood or early adulthood. The findings were published today in the journal PLOS One.

The new pathway was discovered while researchers were examining the skin of neurofibromatosis patients to determine whether the patients also had neuropathy, or damage to peripheral nerves. In taking biopsies of the skin, the team found “microneurofibromas,” or tiny growths before they became full-fledged neurofibromas.

The finding provides a pathway to develop new drugs to treat the condition much earlier than current treatments including creams, Wymer said.

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