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JAK2 Gene Produces Too Many Blood Cells - Confirmed

Four teams of clinical researchers both in England and the United States have identified a single genetic mutation that appears to be responsible for several disorders where there is a debilitating overproduction of blood cells. The studies involved a candidate gene, known for many years, and its correlation to three diseases --polycythemia vera PV), essential thrombocythemia (ET) and idiopathic myleofibrosis (IM). A common characteristic of all three is the production of an overabundance of blood cells.

To find the cause, the teams studied the gene JAK2, looking for mutations in groups of patients varying in size from 140 and more, each with one of the three disorders.

They found JAK2 was mutated in 97 percent of the patients with PV, in 57 percent of those with ET, and in 50 percent of those with IM. The mutation was not detected in any gene of the healthy individuals studied as controls.

Discovery of the mutation, which could lead to a test for the diseases, is a major breakthrough in diagnostic research and could lead to the development of a targeted therapy for each.

Dr. Richard Silver, Medical Director for the Cancer Research &Treatment Fund, co-authored one of the studies with Professor N.C.P. Cross, Director, Wessex Regional Genetics Laboratory of Salisbury District Hospital, Great Britain, to be published in an upcoming professional oncology journal. One of the many sites where the clinical research was conducted was the Center for Study of Leukemia and Myeloproliferative Diseases, created in 2002 by CR&T at Weill Medical College of Cornell University.

For additional information, please contact:
Keith Muhleman, CR&T.
Phone: 212-288-6604
Fax: 212-288-7704 or 212-746-8246
e-mail: kmuhleman@crt.org