Page 137 - ASHG 2013 Program Guide

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Saturday, October 26
SESSION 69 – ASHG Curt Stern Award Presentation
Hall B2, Level 0 (Lower Level), Convention Center
The Curt Stern Award is given annually by ASHG in
recognition of major scientific achievement in human
genetics that has occurred in the last 10 years.
The work could be a single discovery or a series of
contributions on similar or related topics. This Award
honors the memory of Dr. Curt Stern (1902-1981), an
outstanding pioneer in human genetics who served as
ASHG president in 1956.
Haig Kazazian
Johns Hopkins Univ.
John V. Moran, PhD
Prof. of Human Genet. and Int. Med.,
Dept. of Int. Med., Univ. of Michigan
Dr. Moran, a Howard Hughes Medical Institute
Investigator, has been a leader in research on
genome instability and the biology of DNA sequences
that can “jump” to new genomic locations, known
as Long INterspersed Element-1 (LINE-1 or L1)
retrotransposons. Using an assay to monitor L1
mobility (i.e., retrotransposition) in cultured cells,
Dr. Moran’s laboratory has gained insights into the
mechanism of human L1 retrotransposition, identified
host factors that regulate L1 retrotransposition, and
expanded our understanding of the impact of L1
retrotransposition on the human genome. Dr. Moran’s
research also has demonstrated the importance of
L1 retrotransposition in shaping the human genome
through evolutionary time, and has led to a greater
appreciation of how ongoing L1 retrotransposition
contributes to human genetic diversity.
The Curt Stern Award also recognizes Dr. Moran’s
mentorship of graduate students and postdoctoral
researchers as well as his stalwart support of and
service to ASHG.
Past Recipients
Jay Shendure (2012); David Altshuler
Vivian Cheung (2010); David Haussler and
James Kent (2009); Evan Eichler (2008); Jeffrey Murray
Hal Dietz (2006); Patrick Brown (2005); Neil
Risch (2004).
Saturday, October 26
Concurrent Invited Session III (70-76)
SESSION 70 – Design, Content and EMR Integration of
Clinical Sequencing Reports
Grand Ballroom West, Level 3, Convention Center
Robert C. Green, Brigham and Women’s
Hosp./Harvard Med. Sch.; Heidi L. Rehm, Partners Ctr.
for Personalized Genet. Med., Cambridge, MA
This session will present data and describe
recent developments in the design, content and
implementation of clinical reports for exome
and genome sequencing. Presenters will initially
discuss how such a report may be designed, how
much information it should present on primary and
secondary findings and how accessible it should be
to clinicians who are not genetic specialists. Data will
be presented on how well clinicians understand and
can effectively use such reports in clinical practice.
As clinical sequencing becomes more common, the
integration of such reports to the electronic medical
record (EMR) will be critical. Data will be presented
on how ongoing clinical genomics research programs
are attempting to integrate findings with the EMR and
on the usability of specific solutions to scaling such
integration and providing decision support.
Design and implementation of the
General Genome Report.
R. C. Green. Brigham and
Women’s Hosp./Harvard Med. Sch.
Reporting results not directly related to
the indication for testing.
C. Eng. Baylor Col. of Med.
Approaches to integrating next-
generation sequencing into the electronic health
P. Tarczy-Hornoch. Univ. of Washington.
Scaling genomic reporting and clinical
decision support.
H. L. Rehm. Partners Ctr. for
Personalized Genet. Med., Cambridge, MA.