Discovering the JAK2 mutation astounded researchers in 2005. Future research may reveal more about the origins of MPDs.
Myeloproliferative disorders are rare diseases, and have often seemed mysterious to doctors and patients alike. These diseases were first described as “myeloproliferative disorders” in the 1950s, and although doctors could give a diagnosis and offer treatment, no one really knew the mechanisms behind these illnesses. This changed in a dramatic way in the spring of 2005, with the discovery of an acquired mutation in an enzyme called JAK2. Finding the JAK2 mutation is allowing researchers to take a major step forward in understanding MPDs.