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Fatal familial insomnia (FFI) is a rare incurable hereditary (dominantly inherited prion) disease in which the patient dies from insomnia. Only 40 families are known to be affected by this disease. The disease was discovered by the Italian doctor Ignazio Reuther in 1979, who observed the death of two of his wife's relatives from insomnia. In the archives of the San Servolo psychiatric clinic, Reuther was able to discover case histories of other family members with a similar clinical picture. When another relative of his wife fell ill in 1984, the course of the disease was documented, and after his death his brain was sent to the United States for further research.

In the late 1990s, the mutation responsible for the disease was identified. It turned out that in codon 178 of the PRNP gene, located on chromosome 20, asparagine was replaced with aspartic acid. As a result, the shape of the protein molecule changes and it turns into a prion. Under the influence of a prion, other, normal protein molecules also turn into prions.

This leads to the accumulation of amyloid plaques in the thalamus, the part of the brain responsible for sleep. First, amyloid plaques cause insomnia, then even more serious problems, and finally death.

Since the disease is transmitted by a dominant allele, if neither parent has the disease, all their children will be healthy. If one of the parents gets sick (and only one of his parents got sick), the children will get sick with a 50% probability. (The exception is mutations, but they are extremely rare).