Prion diseases are among the rarest and strangest conditions in neuroscience — and among the most fatal. In a recent Brain Research Foundation Lunch & Learn presentation, Dr. James A. Mastrianni, MD, PhD, the Helen McLoraine Neuroscientist of Brain Research Foundation and a researcher at the University of Chicago, unpacked the science behind these diseases, tracing a path from mad cow disease and cannibalism-linked kuru to one of medicine’s most unusual conditions: Fatal Familial Insomnia.
What is a prion disease?
Prion diseases occur when normal proteins in the brain misfold and trigger a chain reaction, causing surrounding proteins to misfold as well. Unlike most neurodegenerative diseases, which are driven by genetic mutations or environmental factors alone, prion diseases can be transmitted, inherited, or occur spontaneously — making them a unique and challenging area of study.
What can mad cow disease and kuru teach us about prions?
Dr. Mastrianni’s presentation traced how outbreaks like mad cow disease (bovine spongiform encephalopathy) and kuru — a disease historically spread through ritual cannibalism in Papua New Guinea — helped scientists first identify how prions behave and spread.
What makes Fatal Familial Insomnia different?
Fatal Familial Insomnia is an extremely rare, inherited prion disease that progressively destroys the brain’s ability to regulate sleep, eventually leading to complete insomnia and death. It offers researchers a distinct window into how prion diseases affect specific brain regions.
Why this research matters
Understanding how prions propagate and damage the brain has implications far beyond these rare diseases — it may help researchers better understand more common neurodegenerative conditions like Alzheimer’s and Parkinson’s, where misfolded proteins also play a central role.
Brain Research Foundation’s Lunch & Learn series brings leading neuroscientists together with the public to explore cutting-edge brain research. [Watch the full presentation here] to learn more about Dr. Mastrianni’s work.
