The patients who run the MPD Foundation are impatient to see results from the medical research they fund. That’s understandable: their rare blood diseases – essential thrombocythemia, polycythemia vera and myelofibrosis, collectively called myeloproliferative neoplasms – are progressive, incurable and generally not well managed by existing medicines.
So, in its latest round of grants, the MPD Foundation and two investigator teams agreed to a novel procedure: The investigators will release their data to the National Institutes of Health’s database of Genotypes and Phenotypes (dbGaP). dbGaP was developed to archive and distribute the results of genetic sequencing studies.
The sharing of data is significant, because despite extensive exploration, investigators have not yet identified the genetic mutations responsible for myelproliferative neoplasms. The more samples investigators have access to, the better their chance of identifying which handful of mutations, among the 25,000 or so genes in the human body, are responsible. Then they can try to develop medicines that inactivate those specific mutations and, at long last, control or even cure the diseases.
The two investigator teams who have agreed to share their genetic databases are Dr. Robert Kralovics, at the Center for Molecular Medicine, Austrian Academy of Science, who is attempting to decipher the genetic complexity of myeloproliferative neoplasms; and Drs. Benjamin Ebert and Ross Levine, at Harvard Medical School and Memorial Sloan Kettering Cancer Center, who will use whole genome sequencing to identify variant forms of genes that contribute to MPD pathogenesis. Each grant is for $150,000 for one year and is renewable for a second year, based on the quality of the research accomplished during the first year.
The MPD Foundation is dedicated to helping MPN patients live longer and enjoy a better quality of life, primarily by encouraging and funding new research into the causes and potential cures for the MPNs. Founded by patients, for patients, the MPD Foundation maintains strong relationships with top researchers, clinicians and biopharmaceutical companies to accelerate progress in the development of treatments and ultimately a cure for these diseases.