I study infectious diseases because I find them so incredibly interesting and varied. Even though my work focuses on viruses, I have mad love for all infectious agents and prions are some of the most interesting. I mean, infectious proteins? How interesting is that? These disease are caused by an altered form of a protein that can cause the native form to become altered. In mammals, a protein named PrP (prion protein) is responsible for these diseases. The altered form is called PrPSc (for scrapie, the name of the prion disease found in sheep) and the native form PrPC (cellular). The altered form of the protein is resistant to degradation and form aggregates resulting in plaques in the brain. These diseases fall into three categories based on mode of transmission: sporadic (caused by a random mutation in the PrP gene), familial (inheritance of mutant PrP) or transmissible (infectious).
You likely know about the widely publicized infectious prion diseases like mad-cow disease or Creutzfeldt–Jakob disease but my favorite prion disease is actually not infectious. It is a hereditary form called fatal familial insomnia (FFS). That's right, insomnia. If you have the misfortune of inheriting this disease, you will die of insomnia. It sounds so so terrible. Luckily, it is exceedingly rare.
