MPN Research Foundation grantees Ben Ebert and Ann Mullally of Brigham & Women’s Hospital, Harvard Medical School have been studying the causes of familial MPN. These investigators are trying to determine the inherited, genetic basis for the development of MPN in multiple members of some families. They are using whole genome sequencing technologies in this study, and have asked for help from the MPN Research Foundation in identifying additional candidate families to help with this important research. They are especially interested in studying families that have individuals who are affected with MPN in addition to individuals that are NOT affected with MPN within the same family.
Following is a description of the type of volunteer families submitted by the doctors, that they need for their study. We encourage any of you in the patient community who are able to support this effort to contact Dr. Mullally at the email address listed below.
“MPN is a relatively rare disease with an incidence of approx 1-3 per 100,000. First-degree relatives of patients with MPN have a significantly higher risk of developing the disease, suggesting that at least some patients with MPN inherit a predisposition to develop the disease. Ashkenazi Jews have a higher incidence of MPN, indicating a particular genetic predisposition in this population. Using recently developed DNA sequencing technologies we have identified a number of candidate genes that may contribute to the genetic predisposition to MPN in Jewish individuals. We would like to study additional families to validate our preliminary findings.”
If you are a Jewish MPN patient and have at least one living first-degree relative (i.e., parent, child, or sibling) who also has MPN (Polycythemia Vera, Essential Thrombocythemia or Myelofibrosis) and are potentially interested in participating in this study, please contact Dr. Ann Mullally at firstname.lastname@example.org in the laboratory of Dr. Benjamin Ebert (Brigham and Women’s Hospital, Harvard Medical School, Boston) for further details. “