Page 125 - ASHG 2012 Annual Meeting Program Guide

114
INVITED AND PLATFORM SESSIONS
Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 65 – Advances in Ocular Genetics
Room 132, Lower Level North, Moscone Center
Moderators
:
Erica Davis, Duke Univ. Med. Ctr; Arupa
Ganguly, Univ. of Pennsylvania
385
/4:30
Rare insertion polymorphisms identified
by exome sequencing may be associated with age-
related macular degeneration.
L. Farrer, J. Kozubek,
M. Schu, J. Farrell, M. Morrison, K. Mayne, D. Morgan,
R. Robinson, A. Swaroop, D. Schaumberg, K.-H. Park,
E. E. Tsironi, G. Silvestri, I.-K.. Kim, R. Chen, C. Huff,
G. Jun, M. deAngelis.
386
/4:45
The role of
SIX6
in primary open-angle
glaucoma.
M. Ulmer, B. Whigham, D. Parker, X. Qin,
N. Katsanis, Y. Liu, A. Ashley-Koch, R. R. Allingham,
M. Hauser, NEIGHBOR Consortium Investigators.
387
/5:00
Topical ocular sodium 4-phenylbutyrate
rescues glaucoma in a mouse model of primary
open angle glaucoma.
G. S. Zode, K. E. Bugge,
E. M. Stone, V. C. Sheffield.
388
/5:15
Meta-analysis of GWAS on corneal
thickness identifies a total of 27 associated loci,
including six risk loci for eye disease keratoconus.
S. Macgregor on behalf of CCT Consortium.
389
/5:30
Mouse models reveal an essential role
for
RERE
in eye development.
B. Kim, Z. Yu, O.
Shchelochkov, M. Justice, B. Lee, D. Scott.
390
/5:45
Mutations in the nuclear NAD synthesizing
enzyme NMNAT1 cause autosomal recessive Leber
congenital amaurosis with early-onset severe
macular atrophy and optic atrophy.
J. Rozet,
I. Perrault, S. Hanein, X. Zanlonghi, V. Serre,
M. Nicouleau, S. Defoort-Delhemmes, N. Delphin,
L. Fares-Taie, S. Gerber, O. Xerri, C. Edelson,
A. Goldenberg, A. Duncombe, G. Le Meur, C. Hamel,
E. Silva, P. Nitschke, P. Calvas, A. Munnich, O. Roche,
H. Dollfus, J. Kaplan.
391
/6:00
RNA-DNA differences in miRNA
transcriptome of retina and retinoblastoma.
A. Ganguly, J. Leipzig, J. Richards, J. Purrazzella,
T. Ganguly.
392
/6:15
Knock-in of human
KIAA0649P
in to the
mouse
Rb1
locus: Modeling the mechanism of
imprinted
RB1
expression in humans.
L. Steenpass,
D. Kanber, M. Hiber, K. Buiting, D. Lohmann,
B. Horsthemke.
393
/6:30
Gene therapy provides long-term
visual function in a pre-clinical model of retinitis
pigmentosa.
K. J. Wert, R. J. Davis, S. H. Tsang.
Friday, November 9
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session E (59-67)
SESSION 66 – Cancer Genetics: Somatic Variants
Room 130, Lower Level North, Moscone Center
Moderators
:
Charis Eng, Cleveland Clinic; Jennelle
Hodge, Mayo Clin.
394
/4:30
The genomic landscape of childhood pre-
B acute lymphoblastic leukemia.
J. Spinella,
R. Vidal, J. Healy, V. Saillour, E. Bareke, C. Richer,
S. Busche, B. Ge, T. Pastinen, D. Sinnett.
395
/4:45
Genomic analysis of serial chronic
lymphocytic leukemia samples suggests that
epigenetic changes, rather than clonal evolution,
drive progression of disease.
E. N. Smith,
C. DeBoever, L. Rassenti, E. Ghia, S. Rozenzhak,
P. Shepard, H. Alakus, O. Harismendy, C. Barrett,
T. J. Kipps, K. A. Frazer.
396
/5:00
Whole-genome sequencing of liver
cancers identifies etiological influences on
mutation patterns and recurrent mutations in
chromatin regulators.
A. Fujimoto, Y. Totoki, T. Abe,
K. A. Boroevich, F. Hosoda, H. H. Nguyen, M. Aoki,
N. Hosono, M. Kubo, F. Miya, Y. Arai, H. Takahashi,
T. Shirakihara, M. Nagasaki, T. Shibuya, K. Nakano,
K. Watanabe-Makino, H. Tanaka, H. Nakamura, K.
Chayama, N. Kamatani, S. Miyano, H. Nakagama,
Y. Nakamura, T. Tsunoda, T. Shibata, H. Nakagawa.
397
/5:15
Breast cancer evolution revealed by deep
whole-genome sequencing of early neoplasias and
their concurrent carcinomas.
A. Sidow, D. Kashef-
Haghighi, D. Newburger, Z. Weng, T. Sweeney,
S. Batzoglou, R. West.
398
/5:30
Intra-tumor genetic heterogeneity in
cancer tissues: The key to assessing its
significance is the distribution profile of gene
variants not just their presence in tumors.
B. Gottlieb, C. Alvarado, C. Wang, B. Gharizadeh,
F. Babrzadeh, L. K. Britel, M. Trifiro.
399
/5:45
Next generation sequencing and
chromosomal microarray analysis provide novel
insight into the genomic landscape of metastatic
breast cancer.
M. Li, Y. Wen, E. Fang, Y. Li, P. Chen,
G. Douglas, C. Carmack, K. Osborne.
400
/6:00
The 3D topographic mapping of genetic
variations in treatment of naïve advanced ovarian
cancer.
E. Cuppen, M. de Pagter, M. Hoogstraat,
G. Cirkel, J. Kreeftmeijer, C. Lee, E. Levandowsky,
T. Guy, K. Duran, R. `t Slot, T. Jonges, S. van Lieshout,
M. Lolkema, R. Zweemer, M. Koudijs, I. Nijman,
E. Voest, T. Harkins, W. Kloosterman.
401
/6:15
Transcriptome sequence analysis of
human colorectal cancer samples to reveal
functional attributes.
H. Ongen, T. F. Orntoft,
B. Oster, L. Romano, A. Planchon, C. L. Andersen,
E. T. Dermitzakis.