Page 135 - ASHG 2013 Program Guide

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of women in medicine and genetics. In 1986, she
was the first woman elected to the Interurban
Clinical Club, founded in 1905, and soon thereafter
was elected president of the group. Her major
discoveries include clarifying the sequence of acid
alpha glucosidase and most of its defects in Pompe
disease and delineating the genetic structure and
pathophysiology of adenosine deaminase (ADA)
deficiency, an autosomal recessive metabolic disorder
that causes immunodeficiency. She also described the
phenomenon of reverse mutations as a cause of “self-
cure” in ADA deficient patients and predicted the utility
of gene therapy for ADA deficiency. Rochelle was the
Distinguished Alumna at Barnard College, which is
awarded to only one alumna per year.
Kurt Hirschhorn has received multiple awards in
genetics and pediatrics, including ASHG’s Allan
Award and Excellence in Education Award, the March
of Dimes’ Colonel Sanders Lifetime Achievement
Award, and the Howland Award in Pediatrics. At
Mount Sinai School of Medicine, he was the Chief of
one of the first Divisions of Genetics for eight years
and Chair of Pediatrics for 18 years. In addition to
serving as a mentor to numerous trainees and faculty,
he helped establish the first Master’s level genetic
counseling program at Sarah Lawrence College. His
major scientific achievements include discovery,
characterization, and application of the mixed-
lymphocyte reaction and the early and sustained use
of cytogenetics to discover and describe multiple
human chromosomal disorders, including the Wolf-
Hirschhorn syndrome, also called 4p- syndrome.
Drs. Hirschhorn, who have been married for over
years, have co-authored more than 20 papers
or chapters published during the period 1959 to
in addition to their many papers published
Past Recipients
Francis S. Collins (2012); Leon E.
Rosenberg (2011); Charles J. Epstein (2010); Arno G.
Motulsky (2009); Victor A. McKusick (2008); Walter
Nance (2007); David Rimoin (2006).
Saturday, October 26
SESSION 66 – ASHG Victor A. McKusick Leadership
Award Presentation
Hall B2, Level 0 (Lower Level), Convention Center
ASHG named this prestigious award to honor Dr.
Victor A. McKusick’s far-reaching contributions to
human genetics. The McKusick Leadership Award
is presented to an individual whose professional
achievements have fostered and enriched the
development of human genetics. Recipients of this
award exemplify the enduring leadership and vision
required to ensure that human genetics will flourish
and successfully assimilate into the broader context of
science, medicine, and health.
Joel N. Hirschhorn
Boston Children’s Hosp., Harvard Med. Sch. and
Broad Inst.
Kurt Hirschhorn, MD
Professorial Lecturer of Pediat.,
Human Genet., Med., and Genet.
and Genomics Sci., Mount Sinai Sch.
of Med.
Rochelle Hirschhorn, MD
Res. Prof. and Prof. Emerita of Med.,
Cell Biol. and Pediat., Dept. of Med.,
New York Univ., Langone Med. Ctr.
The McKusick Award honors the combined
contributions of Drs. Kurt and Rochelle Hirschhorn,
who have been members of ASHG for over 40 years
and have provided dedicated leadership to the
genetics community and the Society, including, service
as president and member of the board of directors
of ASHG (Kurt), the Program Committee (both), and
editorial board (both). Both also have been
elected to the National Academy of Sciences’ Institute
of Medicine.
In 2010, Rochelle Hirschhorn was honored with the
NYU Langone Medical Center’s Master Scientist
Award. Dr. Hirschhorn, who was the center’s Chief
of the Division of Medical Genetics for 24 years, has
been a leader and role model in the advancement