Page 132 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
121
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INVITED AND PLATFORM SESSIONS
Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 76 – The Functional Consequences of
microRNA Dysregulation in Human Disease
Room 134, Lower Level North, Moscone Center
Moderators
:
Cheryl L. Thompson, Case Western
Reserve Univ.; Ahmad Khalil, Case Western Reserve
Univ.
MicroRNAs (miRNAs) are an evolutionarily conserved
class of small non-coding RNAs that have been shown
to regulate the expression levels of numerous protein-
coding genes. Although integral to animal biology, their
role in human disease has only recently been studied.
Previously, numerous miRNAs have been
demonstrated to be dysregulated in multiple diseases,
including cancer, cardiovascular disease, neurological
disease and many others. However, the exact
functions and mechanisms of these miRNAs in human
diseases are yet to be fully elucidated. A number of
recent studies have now begun to shed light on the
role of miRNAs in disease, providing insights into
mechanisms for imitation and progression of disease
as well as targets for preventive and therapeutic
intervention. In this session we have assembled a
group of world leaders in the field of miRNA and
human diseases. The speakers will discuss their latest
research on miRNAs, which will cover a range of
topics from targets of miRNAs, animal models of
miRNA action as well as the role of circulating miRNAs
in diagnostics.
9:40
AM
OncomiR-1 in cancer and development:
A tale of mice and men.
A. Ventura. Sloan-Kettering
Inst.
10:10
AM
microRNA reprogramming in cancer:
Mechanisms and consequences.
J. Mendell. Univ. of
Texas Southwestern Med. Ctr.
10:40
AM
Exploring circulating miRNAs as blood-
based diagnostic biomarkers.
M. Shapero.
Affymetrix, Santa Clara, CA.
11:10
AM
Circulating microRNAs in obesity and
postmenopausal breast cancer.
C. L. Thompson.
Case Western Reserve Univ.
Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 77 – Centralizing the Deposition and Curation
of Human Mutations
Room 132, Lower Level North, Moscone Center
Moderators
:
Robert L. Nussbaum, UCSF; David H.
Ledbetter, Geisinger Hlth. Syst., Danville, PA
Hundreds of thousands of disease-causing variants
have been identified in patients with disease, yet only
a small fraction of that data, and the interpretation of
it, is accessible to researchers and clinicians. The
centralization of data on human genomic variation is a
critical step in accelerating advances within the field of
genomic medicine. Such centralization of variant data
will not only enable more efficient approaches to data
analysis, but will also ensure the use of a uniform set
of standards across the many communities
contributing data and intending to use the resources
for research and clinical applications. This session will
highlight groups that have recently joined efforts
to solve this challenge and create a free and useful
human genomic mutation database for the community.
9:40
AM
Improving the accuracy of variant
identification.
D. Church. NLM/NIH.
10:10
AM
The ISCA Consortium: Standardization
and sharing of structural variation data.
C. L.
Martin. Emory Univ. Sch. of Med.
10:40
AM
Introducing ClinVar.
D. Maglott. NCBI,
NLM/NIH.
11:10
AM
Community involvement in centralized
mutation curation.
H. L. Rehm. Harvard Med. Sch.