Posted on December 18, 2018
On December 11, 2018, Professor Helga Ögmundsdóttir from the University of Iceland presented a seminar, “Genetic predisposition to Waldenström's macroglæobulinemia - lessons from family studies”. Prof. Ögmundsdóttir, an immunologist, has a longtime interest in the study of the genetic and biological basis of B cell-derived malignancies. During her seminar, she described functional studies of B-cell activation in families with Waldenström macroglobulinemia (WM) and its precursor condition, monoclonal gammopathy of undetermined significance, in particular her discovery that B-cells from apparently unaffected relatives of WM patients were hyper-responsive to stimulation from exposure to certain compounds. Dr. Ögmundsdóttir coined the term “hyper-responder” to describe the phenomenon.
Following the seminar, Dr. Ögmundsdóttir and Mary Lou McMaster, M.D., her host from the Clinical Genetics Branch, met with Joseph Fraumeni, Jr., M.D. to discuss their shared interest in familial WM. Dr. Fraumeni presented Dr. Ögmundsdóttir with a copy of his 1980 paper in which he and colleagues described a family with multiple individuals affected with WM, autoimmune disease, or both—the first WM family described at NIH which formed the basis of an ongoing dedicated study of familial WM led by Dr. McMaster.