Page 139 - ASHG 2013 Program Guide

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INVITED AND PLATFORM SESSIONS
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Saturday, October 26
9:30
AM
–11:30
AM
Concurrent Invited Session III (70-76)
SESSION 73 – Tandem Repeat-Associated Epigenetic
Mechanisms in Neuromuscular Disorders
Room 205, Level 2, Convention Center
Moderators
:
Paul J. Hagerman, Univ. of California,
Davis, Sch. of Med.; Laura Ranum, Col. of Med., Univ.
of Florida
This session will consider four classes of repeat-
expansion disorders, each with a distinct epigenetic
mechanism, all of which are linked through repeat-
length regulation of pathogenesis. The remarkable
range of mechanisms include decreased epigenetic
repression through macrosatellite contraction; toxic
RNA gain-of-function and epigenetic silencing as
outcomes of CGG-repeat expansion, with the switch in
mechanisms depending only on the length of the CGG
repeat; shifts to non-canonical translation initiation
and the production of potentially toxic peptide
products (CAG-repeat disorders); and epigenetic gene
silencing associated with long-intronic GAA-repeat
expansions. The session will highlight the newly
acquired knowledge from basic research in the area
of repeat-associated disorders, will describe new
research tools and methodologies that have made
the research advances possible, and will relate how
such knowledge can be used to guide the diagnosis
and treatment of these and other repeat-associated
disorders.
9:30
AM
Facioscapulohumeral dystrophy: An
epigenetic disease with genetic modifiers.
S.
Tapscott. Fred Hutchinson Cancer Res. Ctr., Seattle.
10:00
AM
Mechanisms of pathogenesis in fragile
X-associated disorders.
P. J. Hagerman. Univ. of
California, Davis, Sch. of Med.
10:30
AM
Repeat associated non-ATG translation
in microsatellite expansion disorders: Lessons
from SCA8 and myotonic dystrophy.
L. Ranum. Col.
of Med., Univ. of Florida.
11:00
AM
Development of histone deacetylase
inhibitors as therapeutics for Friedreich’s ataxia.
J.
Gottesfeld. The Scripps Res. Inst.
Saturday, October 26
9:30
AM
–11:30
AM
Concurrent Invited Session III (70-76)
SESSION 74 – Twin Studies: Helping Us Understand
and Exploit the Genome (In Honor of Walter Nance’s
Contributions to Human Genetics on his 80th Birthday)
Hall B2, Level 0 (Lower Level), Convention Center
Moderators
:
Rita M. Cantor Chiu, David Geffen Sch.
of Med. at UCLA; Cynthia C. Morton, Brigham and
Women’s Hosp.
This session will focus on current realized and
proposed successes in genetic epidemiology and
genomics using twins. The history of twin studies
will be summarized, and current applications to
genetic epidemiology which illuminate the question
of ‘missing heritability’ and refocus investigations will
be presented. The use of twin registries and large
population samples will be contrasted. Methods
that reveal pathways for complex disorders will
be discussed. Applications that have successfully
developed baseline information regarding DNA, genes,
structural variants, epigenetics and gene expression
will be presented. The overarching rationale will be
to celebrate Walter Nance’s creative contributions
to twin studies and to encourage ASHG researchers
and clinicians to see their value and apply them.
Information regarding availability of twin resources and
how to interpret the results of twin research will be
included.
9:30
AM
Twin studies in the non-molecular era.
W. Nance. Virginia Commonwealth Univ.
10:00
AM
Twin studies as a tool in genetic
epidemiology.
N. Risch. UCSF.
10:30
AM
Twin studies as a powerful approach to
identifying and understanding molecular pathways
that underlie complex traits.
N. Martin. Queensland
Inst. of Med. Res., Brisbane.
11:00
AM
Twin studies as a valuable approach to
omics research.
T. Spector. Kings Col. London.