Page 94 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
83
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INVITED AND PLATFORM SESSIONS
Thursday, November 8
8:00
AM
10:00
AM
Concurrent Invited Session II (21-28)
SESSION 23 – Advancing Gene Therapy to the Clinic:
Molecular Medicines Come of Age
Gateway Ballroom 104, Lower Level South, Moscone
Center
Moderator
:
Beverly Davidson, Univ. of Iowa
The first evidence for uptake and expression of
exogenous DNA in mammalian cells occurred in the
60
s and 70s, and in 1980 the first experiment was
performed in which patients were given plasmid DNA
expressing protein lacking in their blood cells. Over the
next 25 years researchers focused on improved vector
development and better delivery modalities, along with
more appropriate clinical trial design, to improve
the chances to positively impact disease course in
patients with genetic diseases. In this symposium we
will present exciting advances in gene therapy for the
eye (Jean Bennett), the liver (Kathy High), blood
disorders (Maria-Gracia Roncolo), the leukodystrophies
(
Nathalie Cartier), and lysosomal storage diseases
affecting the brain (Beverly Davidson). Data presented
will span from preclinical studies in animal models to
advanced clinical trials in affected individuals using
several vector platforms.
8:00
AM
Safety and efficacy of AAV-mediated
gene transfer to liver for severe hemophilia B.
K. High. Children’s Hosp. of Philadelphia.
8:25
AM
Safety and efficacy after AAV2
re- administration in subjects with congenital
blindness due to
RPE65
mutations.
J. Bennett. Univ.
of Pennsylvania.
8:45
AM
Advancing gene therapy for ADA-SCID
and beyond.
M- G. Roncarolo. Univ. Vita-Salute San
Raffaele., Milan, Italy.
9:10
AM
Gene therapy for the leukodystrophies.
N. Cartier. Saint Vincent de Paul Hosp., Paris, France.
9:30
AM
AAV gene therapy for childhood onset
neurological disease caused by lysosomal enzyme
deficiencies.
B. Davidson. Univ. of Iowa.
Thursday, November 8
8:00
AM
10:00
AM
Concurrent Invited Session II (21-28)
SESSION 24 – RNA Splicing in Human Development,
Diseases and Natural Variation
Room 124, Lower Level North, Moscone Center
Moderators
:
David E. Symer, The Ohio State Univ.
Comprehen. Cancer Ctr.; Richard A. Padgett, Lerner
Res. Inst., Cleveland
RNA splicing has been identified and studied for
decades, but its roles in normal human biology and in
contributing to human diseases have not been fully
described to date. The presentations in this session
will address the latest breakthroughs in understanding
how RNA splicing and processing contribute to human
development, diseases including various cancers and
neurodegeneration, and natural variation. Also
discussed will be the development of animal models
of aberrant RNA splicing, and optimization of the latest
technologies of RNA-seq and bioinformatics analysis
of RNA splicing variation.
8:00
AM
Functional consequences of minor
spliceosomal snRNA mutations in human
development and natural variation.
D. E. Symer.
The Ohio State Univ. Comprehen. Cancer Ctr.
8:25
AM
Multicopy snRNA genes and
neurodegeneration.
S. L. Ackerman. HHMI/The
Jackson Lab., Bar Harbor, ME.
8:50
AM
Understanding the chemical mechanisms
and biological implications of splicing reactions.
R. A. Padgett. Lerner Res. Inst., Cleveland.
9:15
AM
Overlaying RNA maps onto human
disease.
R. B. Darnell. HHMI and Rockefeller Univ.
9:40
AM
Seq-ins” the Myotonic Dystrophy Tran-
scriptome.
E. Wang. MIT