Explaining the puzzle of ‘one-mutation-different diseases’
The discovery in 2005 that a single mutation in one gene (JAK2V617F) exist in three bone marrow diseases ( polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)) triggered an unexpected flowering of studies resulting in an exceptional amount of new information. The consequence of those findings was the development of new drugs. However, these entities remain largely incurable.
Dr. Adrian Duek is trying to unravel the fascinating point of how a single mutation in JAK2 could form the basis of these three major clinical phenotypes. For this purpose, Dr. Duek works in consultation and collaboration with Prof Radek Skoda, head of the Department of Biomedicine, University of Basel, Switzerland.
New information may help to find ways for better therapeutic approaches in order to improve the prognosis of patients.