Page 128 - ASHG 2012 Annual Meeting Program Guide

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Saturday, November 10
SESSION 69 – ASHG Victor A. McKusick Leadership
Award Presentation
Hall D, Lower Level North, Moscone Center
ASHG established this prestigious award in honor of
Dr. Victor A. McKusick and his inspiring contributions
to the human genetics field. The McKusick Leadership
Award is presented to an individual whose
professional achievements have fostered and enriched
the development of the field of human genetics.
Recipients of this award exemplify the enduring
leadership and vision required to ensure that the field
of human genetics will flourish and successfully
assimilate into the broader context of science,
medicine, and health.
Joann A. Boughman, Univ. Syst. of Maryland
Francis S. Collins, MD, PhD
Director, National Institutes of Health
Dr. Collins has been named as the 2012 winner in
recognition of his extensive achievements in genetics
research, his efforts to advance health science
and technology through policy and education, and
his stellar leadership of the genetics community in
mapping the human genome. The revolution that was
dreamed of at the start of the Human Genome Project
is currently being realized. Today’s medical geneticists,
genetic counselors, and other health professionals are
increasingly able to identify and test genes associated
with both single-gene and complex disease. Today’s
medical researchers are increasingly able to
investigate treatments and therapies for diseases with
genetic causes. These medical and scientific advances
would not have been possible without Dr. Collin’s
leadership and dedication to studying the molecular
genetics of diseases, for the benefit of health and
During the completion of the NIH-based Human
Genome Project, Dr. Collins served as the Director of
the National Human Genome Research Institute.
However, prior to taking on that leadership role, he
had already contributed much to human genetics. He
took part in the identification of the gene for cystic
fibrosis in 1989, the gene for neurofibromatosis in
and the gene for Huntington’s disease in 1993.
His laboratory is known for its past and continuing
focus on the function of genes involved in breast
cancer, diabetes, Hutchinson-Gilford progeria
syndrome, and many other conditions. In 2008, Dr.
Collins stepped down from the NHGRI, and less than
year later, he was chosen by President Obama to
serve as the director of the National Institutes of
Dr. Collins has received many awards for his
achievements in science and technology, including the
Presidential Medal of Freedom in November 2007, the
National Medal of Science in 2009, and election into
the Institute of Medicine and the National Academy of
Dr. Collins has also made “singing for science” an
emphasis of his professional career. His efforts in
education and outreach are commended by many.
These efforts include, among many others, creating
clinical partnerships with four historically black
colleges and universities to develop clinical research
degrees and conduct treatment trials among minority
patients, and establishing the National Center for
Advancing Translational Sciences to enhance the
process of translating scientific discoveries into new
drugs, diagnostics, and devices. Dr. Collins continues
to play a vital role in the advancement of genetics and
medical research and the improvement of health and
Past Recipients: Leon E. Rosenberg (2011); Charles J.
Epstein (2010); Arno G. Motulsky (2009); Victor A.
McKusick (2008); Walter Nance (2007); David Rimoin