Breakthroughs Energize Scientific Community

We  perviously reported that in 2005 researchers in the USA, UK and Europe discovered and confirmed in separate research that an acquired genetic mutation may explain the origins of myeloproliferative (MPD) disorders. The mutation involves a “gain of function” in a tyrosine kinase known as a Janus kinase (JAK2.) Tyrosine kinases are cellular "switches" that control many cellular processes. Research performed by Dr. Josef T Prchal in 2002, (funded by Friends of ET Research and The MPD Foundation,) showed a stem cell defect on chromosome 9p near where the tyrosine kinase mutation exists. Other researchers built on Dr. Prchal's pioneering work, which subsequently led to the JAK2 discovery.  

What does this mean to ET or PV patients? It is the first meaningful research that may lead to targeted medicines and treatments to correct the defect. And, since not all PV or ET or MF/AMM patients tested carry the defect, it is possible there may be a second mutation yet uncovered.

In fact, late last year, Dr. Francois Delhommeau of Paris, France announced the discovery of another mutation (Ten-Eleven Translocation2 or TET2) that precedes the JAK2 and thus allows the expansion of JAK2 in a small percentage (14%) of MPD patients. While TET2 is another very exciting discovery, it remains to be seen just how TET2 works and how it affects JAK2. However, interest in these disorders has spread around the globe as a result of these important discoveries.

As we continue to make progress towards understanding these diseases, your continued support is urgently needed. Please join us as we build upon these discoveries and further the science for all ET, PV and MF patients.