IDENTIFICATION OF TET2 AND CALR
Advanced Genomic Studies for Better MPN Treatment Options
As academic scientists and private-sector researchers in the biotech and pharmaceutical industries embraced preclinical testing and clinical testing of JAK inhibitors, the MPN Research Foundation took the initiative and proactively supported additional genomic studies (Benjamin Ebert and Ross Levine at Harvard Medical School and Memorial Sloan Kettering; Robert Kralovics at CEMM, Austria; Francois Delhommeau at Saint-Antoine Hospital, Paris) to further define the causes and progression of MPNs.
These studies result in a detailed analysis of the role of the TET2 mutation in the stem cells of MPN patients by Francois Delhommeau. The research also led to Robert Kralovics’ 2013 discovery of the CALR mutation, which is present in nearly all MPN patients who do not have the JAK mutation. Combined, these discoveries presented new genetic targets and introduced potential new therapies (including immunotherapy) to MPN drug development.
All of the genomic data generated from MPN Research Foundation grants is stored in dbGaP, a repository operated by the National Institutes of Health (NIH) to provide qualified researchers with controlled, shared access to genomic data.
A Commitment to Shared Learning
The storage of data in dbGaP reflects our core values and our commitment to share new research learnings across the MPN community. Sign up to stay current with the latest research news and updates.