Contact information

Outi Kilpivaara,
PhD, Academy Research Fellow

Biomedicum Helsinki 1, Rm B322b
PO Box 63
00014 University of Helsinki

Tel: +358 2 941 25599
E-mail: firstname.lastname



Hematological genetics

Cells of myeloid lineage are responsible for producing all the red blood cells (erythrocytes), platelets (thrombocytes), and granulocytes in our body. Myeloproliferative neoplasms (MPNs) are clonal diseases of hematopoietic stem or progenitor cells characterized by overproduction of mature myeloid cells, and a tendency to transform to acute myeloid leukemia (AML). The most common types of (BCR-ABL-negative) MPNs are polycythemia vera (PV), essential thrombocytosis (ET), and primary myelofibrosis (MF).

Disturbances in hematopoiesis may result from genetic and epigenetic alterations in processes such as differentiation, proliferation, and self-renewal. The focus of our lab is on genetics of hematological malignancies, especially myeloproliferative neoplasms and other myeloid malignancies. We aim at improving our understanding on how genetic variation affects the disease pathogenesis and how the genetic knowledge could improve diagnostics for patients. We are also interested in genetic variation that may have prognostic value in these diseases.

Familial predisposition to MPNs has long been recognized in a subset of cases and studies have shown that inherited genetic factors contribute to the MPN predisposition. We are interested in both familial predisposition as well as in common genetic variation that predisposes to MPNs.

In summary, our aims involve identifying and clarifying the role of genetic factors in hematologic malignancies, and further functionally characterizing them in in vitro, and possibly, in in vivo systems.