Page 90 - ASHG 2013 Program Guide

INVITED AND PLATFORM SESSIONS  
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INVITED AND PLATFORM SESSIONS

Wednesday, October 23
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-9)
SESSION 3 – A Renaissance in Gene Therapy: New
Tools and Clinical Trials
Room 253, Level 2, Convention Center
Moderators
:
Stephen Kaler, NICHD/NIH; Luk H.
Vandenberghe, Harvard Med. Sch.
This session will focus on expanding knowledge
and experience in the field of therapeutic gene
transfer, with a focus on monogenetic disorders.
Advances in somatic gene transfer have led to
a renaissance in the field, in large part due to
recent success in early clinical trials for hemophilia
and inherited blinding diseases. This session will
provide an update on recent improvements in the
development of adeno-associated viral and lentiviral
vector systems. Speakers will discuss preclinical and
clinical advances that these novel technologies have
enabled. Emerging data on the clinical application of
viral gene therapy, as well as the contribution of this
approach to understanding of disease mechanism and
pathophysiology will be highlighted.
8:00
AM
Adeno-associated viral vectors for
gene therapy: Virus, vector, nanoparticle.
L. H.
Vandenberghe. Harvard Med. Sch.
8:30
AM
Gene therapy for metabolic CNS
disorders.
R. G. Crystal. Weill Cornell Med. Col.
9:00
AM
Brain-directed AAV gene therapy.
S.
Kaler. NICHD/NIH.
9:30
AM
Lentiviral-mediated gene therapy for
human disease: Extensive genetic engineering
of hematopoiesis with therapeutic benefit in
metachromatic leukodystrophy patients after
lentiviral hematopoietic stem cell gene therapy.
L.
Naldini. San Raffaele Telethon Inst. for Gene Therapy,
Milan.
Wednesday, October 23
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-9)
SESSION 4 – DNA Damage Response Network Defects
and Cancer Predisposition: Where One Plus One Does
Not Equal Two
Room 210, Level 2, Convention Center
Moderators
:
Marc Tischkowitz, Univ. of Cambridge;
William D. Foulkes, McGill Univ.
Ataxia-telangiectasia (A-T) and Fanconi Anemia
(
FA) are important DNA damage response network
syndromes whose genes exhibit different clinical
phenotypes in the mono-allelic and bi-allelic mutated
state. In 2002, D’Andrea and colleagues made the
pivotal discovery that biallelic mutations in FANCD1/
BRCA2 are a cause of FA. Since then two other
genes (FANCJ/BRIP1, FANCN/PALB2) have been
shown to cause FA and hereditary breast cancer in a
similar manner while a fourth gene, RAD51C/FANCO
causes an FA-like phenotype and hereditary ovarian
cancer. Genes in the FA/BRCA pathway predispose
to a number of other malignancies including prostate
cancer (BRCA2), pancreatic cancer (BRCA2&PALB2)
and pediatric brain tumors, Wilms tumors, leukemias
(
all seen in FA). Interestingly, bi-allelic mutations in a
fifth gene, BRCA1 (a FANCJ/BRIP1 binding partner),
have recently been shown to cause an inherited
ovarian cancer syndrome distinct from FA. The
proteins encoded by these genes act downstream of
the core FA complex and study of their interactions
has given insight into key mechanisms underlying
cancer predisposition. However, many questions
remain e.g. why is FA due to biallelic BRCA2/PALB2
mutations more severe compared to other FA
complementation groups? How can we explain the
different cancer spectrum and penetrance caused by
mono-allelic mutations in these genes? What can we
learn about the role of FA and ATM in carcinogenesis
and mediating sensitivity to chemotherapy agents?
Using the ATM/FA/BRCA molecular crossroads as
a starting point, this session will focus on clinical,
epidemiological, functional and therapeutic aspects
to provide a detailed overview and attempt to answer
these questions.
8:00
AM
The molecular crossroads of ataxia
telangiectasia, Fanconi anemia and hereditary
breast/ovarian cancer.
M. Tischkowitz. Univ. of
Cambridge.
8:30
AM
Characterizing cancer risks in carriers
with mutations in the
FA/BRCA
and
ATM
genes.
A.
C. Antoniou. Univ. of Cambridge.
9:00
AM
Ataxia-telangiectasia: From phenotype
to biology, and onto treatment strategies.
Y. Shiloh.
Sackler Sch. of Med., Tel Aviv.
9:30
AM
Targeting the FA/BRCA pathway in cancer
therapy.
A. D. D’Andrea. Dana-Farber Cancer Inst.