Ernest Beutler, MD (1928-2008)
Published on: November 01, 2008
Ernest Beutler, past president of ASH, died on October 5, 2008, at
80 years of age. Only a few months ago, Dr. Beutler's immense
contributions to hematology were summarized in the May/June 2008 and
January/February 2008 issues in The Hematologist in two
articles: a brief biography and an acknowledgment of his receiving the
Wallace H. Coulter Award for Lifetime Achievement in Hematology. (See
links to these articles below.)
Dr. Beutler pursued his work with extraordinary intellectual power.
Both the breadth of his research and the fluency of his writing were
incomparable. He always pursued both basic and patient-centered
research, finding inspiration in the clinical problems he witnessed
firsthand. At times, however, his achievements seemed to materialize
out of thin air.
Dr. Beutler's major scientific work began with the discovery that
G6PD deficiency was responsible for hemolysis in primaquine-sensitive
individuals. Aware that G6PD is encoded by an X-linked gene, he began
to ponder the mechanism of dosage compensation in mammals, which in
turn led him to deduce and prove the principle of random embryonic
X-chromosome inactivation. With this, he identified the first example
of stochastic epigenetic silencing in humans, and showed that human
females are mosaics of X-chromosome activity. This, in turn, led to the
strongest evidence that neoplastic diseases are, for the most part,
clonal. Indeed, he foresaw the importance of epigenetics years before
most of the scientific community fully understood it.
Over the years, Dr. Beutler made many other seminal contributions to
science, and foremost to our understanding of red cell enzymopathies,
Gaucher disease, Tay-Sachs disease, and disorders of iron metabolism.
He also developed therapies for lymphoid malignancies (especially hairy
cell leukemia), devised methods for blood preservation that remain in
use today, was a pioneer in hematopoietic cell transplantation, and
invented diagnostic tests for numerous genetic disorders.
He leaves behind those of us who benefited from his mentorship:
countless scientific colleagues and collaborators, his four children
whose accomplishments stand on their own merit, and his wife and
special companion of 58 years, Bonnie. Bonnie's intellect, passion, and
support were an invisible but sustaining factor in his accomplishments.
Dr. Beutler's many groundbreaking contributions have been, and will
continue to be, appreciated by past, present, and future generations of
scientists and physicians.
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