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Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39)
SESSION 37 – Therapy for Genetic Disorders
Room 710A, Level 7, Convention Center
Moderators:
Sihoun Hahn, Univ. Washington, USA;
Patricia Dickson, Univ. of California, Los Angeles, USA
139
/10:15
Treating stiff skin syndrome: Study of a
rare Mendelian disorder reveals novel therapeutic
strategies for complex acquired scleroderma.
E. E.
Gerber, D. Huso, B. Loeys, E. Davis, F. Wigley, H. C.
Dietz.
140
/10:30
A liver-specific transgenic mouse model
identifies new disease-associated biomarkers and
establishes antioxidants as an ameliorative
treatment for the renal disease of methylmalonic
acidemia.
E. Manoli, J. R. Sysol, L. Li, C. Garone, S.
Young, J. L. Sloan, R. J. Chandler, V. Hoffmann, P.
Zerfas, S. DiMauro, J. Schnermann, C. P. Venditti.
141
/10:45
AAV-mediated gene transfer to skeletal
muscle results in sustained reduction of
hyperbilirubinemia in an animal model of Crigler-
Najjar syndrome type 1.
N. Pastore, R. Sepe, E.
Nusco, F. Vetrini, A. Auricchio, N. Brunetti-Pierri.
142
/11:00
Antisense oligonucleotide-mediated exon
skipping restores primary cilia assembly in
fibroblasts harbouring the common LCA
CEP290
c.2991+1655G>A mutation.
X. Gerard, I. Perrault, S.
Hanein, E. Silva, K. Bigot, S. Defoort-Delhemmes, M.
Rio, A. Munnich, D. Scherman, J. Kaplan, A. Kichler,
J.-M. Rozet.
143
/11:15
Interference of myostatin and TGF-beta
signaling by antisense-mediated exon skipping as
an adjunctive therapy for Duchenne muscular
dystrophy.
P. A. Hoen, D. U. Kemaladewi, W. M.
Hoogaars, S. H. van Heiningen, A. Aartsma-Rus, P. ten
Dijke, G. J. van Ommen.
144
/11:30
Novel nitric oxide-directed treatment of
urea cycle disorder for morbidity independent of
hyerammonemia.
A. Erez, S. Nagamani, M.
Premkumar, P. Campeau, W. Mitch, L. Salviati, N.
Bryan, B. Lee.
145
/11:45
Correction of cystine and sialic acid
storage in human cystinotic and ISSD fibroblasts
by microvesicles derived from Sf9 cells infected
with baculovirus containing the human sequence
for cystinosin or sialin.
J. Thoene, M. Witcher, J.
Mullet, P. Courtoy, F. N’Kuli, P. Van Der Smissen, S.
Hahn, S. Kerfoot.
146
/12:00
The pathogenesis of hypoglycemia and
cardiac disease in long-chain acyl-CoA
dehydrogenase KO mice.
S. M. Houten, A. J.
Bakermans, H. J. Herrema, H. te Brinke, T. H. van Dijk,
M. van Weeghel, D.-J. Reijngoud, J. J. Prompers, R. J.
Wanders.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Thursday, October 13
10:15
AM
–12:15
PM
Concurrent Platform Session B (30-39
SESSION 38 – Pharmacogenomics
Room 710B, Level 7, Convention Center
Moderators:
Thomas Urban, Duke Univ., USA; Lin H
Shanghai Jiao Tong Univ., China
147
/10:15
Pharmacogenomics of paclitaxel-induc
cytotoxicity and apoptosis in lymphoblastoid cell
lines and paclitaxel-induced peripheral neuropat
in patients from the Cancer and Leukemia Group
40101 clinical trial.
H. E. Wheeler, E. R. Gamazon,
O. Njiaju, L. K. Gorsic, R. M. Baldwin, K. Owzar, E.
Winer, C. Hudis, L. N. Shulman, M. J. Ratain, D. L.
Kroetz, N. J. Cox, M. E. Dolan.
148
/10:30
Optimizing drug outcomes through
pharmacogenetics: A case for preemptive
genotyping.
J. Schildcrout, J. Denny, E. Bowton, W.
Gregg, J. Pulley, M. Basford, J. Cowan, H. Xu, A.
Ramirez, D. Crawford, M. Ritchie, J. Peterson, D.
Masys, R. Wilke, D. Roden.
149
/10:45
A nationwide program combining test
facilitation for
CYP2C19
genotyping and drug
utilization review for patients on clopidogrel.
L. A
Castle, W. B. Dreitlein, H. Kourlas, M. Khalid, J. F.
Barlow, R. S. Epstein.
150
/11:00
Genome-wide genetic determinants of
lipid response to rosuvastatin therapy.
D. Chasm
F. Giulianini, J. MacFadyen, B. Barratt, F. Nyberg, P.
Ridker.
151
/11:15
Predicting warfarin dosage in Europea
and African Americans using DNA samples linke
to an electronic health record.
A. H. Ramirez, Y. S
J. S. Schildcrout, J. T. Delaney, H. Xu, M. T. Oetjens
R. L. Zuvich, M. A. Basford, E. Bowton, M. Jiang, R.
Zink, J. Cowan, J. M. Pulley, M. D. Ritchie, J. F.
Peterson, D. R. Masys, D. M. Roden, D. C. Crawfor
J. C. Denny.
152
/11:30
Pharmacogenetic genome-wide
association analysis in the NORDIL study identifi
9 putative SNPs associated with systolic and
diastolic blood pressure response.
K. A. Pettigrew
O. Melander, C. Newton-Cheh, A. F. Dominiczak, S.
Padmanabhan, Glasgow - Malmö Extreme BP
Consortium.
153
/11:45
Personalized medicine study of Chines
population.
S. Qin, L. Shen, Y. Xiong, K. Tang, G.
Feng, L. He.
154
/12:00
A single common
TSPO
SNP alters
receptor binding of a PET ligand: Can genotypin
identify patients most likely to benefit clinically
from PET studies?
A. Yeo, D. Owen, R. Gunn, K.
Song, G. Wadsworth, A. Lewis, C. Rhodes, D. Pulfo
I. Bennacef, C. Parker, P. St. Jean, L. Cardon, V.
Mooser, P. Matthews, E. Rabiner, J. Rubio.