Page 110 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
99
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INVITED AND PLATFORM SESSIONS
Thursday, November 8
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session C (38-46)
SESSION 44 – Tools for Phenotype Analysis
Room 132, Lower Level North, Moscone Center
Moderators
:
Donna Maglott, NCBI/NIH; Gregory E.
Crawford, Duke Univ.
223
/4:30
PRIMUS: Pedigree Reconstruction and
Identification of the Maximum Unrelated Set.
J. Staples, D. Nickerson, J. Below.
224
/4:45
Pharmacogenoinformatics: Novel
approach of in silico drug designing based on
genetic variation of
MDR1
gene involved in statin
resistance.
A. Munshi, M. Sai Babu, A. Venkateswara
Rao, A. Jyothy.
225
/5:00
A general, integrated variant prioritization
method for rapid determination of disease causing
mutations from next-generation sequencing data.
B. D. O’Fallon, W. Wooderchak-Donahue, P. Bayrak-
Toydemir.
226
/5:15
Visually integrating and exploring high
throughput phenome-wide association (PheWAS)
results using PheWAS-view and PhenoGram.
S. A.
Pendergrass, S. Dudek, D. C. Crawford, M. D. Ritchie.
227
/5:30
PhenoDB: A new web-based tool for the
collection, storage and analysis of phenotypic
features.
A. Hamosh, J. Hoover-Fong, V. R. Sutton,
N. Sobreira, C. Boehm, F. Schiettecatte, D. Valle.
228
/5:45
A novel metabolomics analysis workflow
provides new biological insights into the genetic
basis of human metabolic variation.
H. Dharuri,
P. Henneman, D. O. Mook-Kanamori, K. Suhre,
K. Willems van Dijk, P. A. C. `t Hoen.
229
/6:00
Integration of large-scale gene annotation,
electronic medical records, and incidence data to
produce phenotype-specific posterior probabilities
to aid interpretation of genome-wide variant data.
I. M. Campbell, S. W. Cheung, A. Patel, S. R. Lalani, P.
Stankiewicz, M. B. Ramocki, J. R. Lupski, C. A. Shaw.
230
/6:15
The Kaiser Permanente/UCSF Genetic
Epidemiology Research Study on Adult Health
and Aging: CREX, computerized methodology to
identify health conditions using the EMR for GWAS.
S. Sciortino, L. Walter, D. Ranatunga, L. Shen, D.
Ludwig, J. Kay, L. Sakoda, N. Risch, C. Schaefer.
231
/6:30
An informatics approach to analyzing the
incidentalome.
M. C. Adams, J. S. Berg, N. Nassar,
C. Bizon, K. Lee, C. P. Schmitt, K. C. Wilhelmsen,
J. P. Evans.
Thursday, November 8
4:30
PM
–6:45
PM
Concurrent Platform (abstract-driven)
Session C (38-46)
SESSION 45 – Therapy of Genetic Disorders
Room 130, Lower Level North, Moscone Center
Moderators
:
Cynthia J.R. Curry, UCSF; Brunhilde
Wirth, Univ. of Cologne, Germany
232
/4:30
Pathogenic exon-trapping by SVA
retrotransposon and rescue in Fukuyama muscular
dystrophy.
M. Taniguchi, K. Kobayashi, M. Kanagawa,
C. C. Yu, T. Oda, A. Kuga, H. Kurahashi, H. O. Akmen,
S. DiMauro, T. Yokota, S. Takeda, T. Toda.
233
/4:45
Hematopoietic stem cell transplantation
for adolescent and adult onset cerebral X-linked
adrenoleukodystrophy.
T. Matsukawa, T. Yamamoto,
S. Seo, K. Kumano, M. Ichikawa, Y. Takahashi, H.
Ishiura, J. Mitsui, M. Tanaka, J. Goto, M. Kurokawa,
S. Tsuji.
234
/5:00
Treating Pelizaeus-Merzbacher disease
with clinically applicable compounds, curcumin
and chloroquine: Preclinical studies.
K. Inoue,
T. Morimura, Y. Numata, L.-H. Yu, L. Gotoh, R.
Yamamoto, N. Inoue, B. Antalfy, K. Deguchi, H. Osaka,
Y. Goto.
235
/5:15
Systemic L-threo-dihydroxyphenylserine
corrects neurochemical abnormalities in a mouse
model of Menkes disease.
S. Kaler, A. Donsante, P.
Sullivan, D. Goldstein, C. Holmes.
236
/5:30
Response to VPA therapy in SMA
patients is concordant from blood to neurons and
influenced by CD36.
B. Wirth, L. Heesen, I. Hölker,
T. Bauer, J. Schreml, K. Zimmermann, M. Thoenes,
M. Walter, J. Dimos, M. Peitz, O. Brüstle, R. Heller,
L. Garbes.
237
/5:45
Melatonin, a new biomarker reflecting
brain serotonin metabolism in individuals with
phenylketonuria: Evaluation of large neutral
amino acid therapy by a randomized, double-blind
crossover study.
S. Yano, K. Moseley, C. Azen.
238
/6:00
Beyond cholesterol: Antioxidant treatment
for patients with Smith-Lemli-Opitz syndrome.
E. Elias, R. Braverman, S. Tong.
239
/6:15
Positive effects of short course androgen
therapy on the neurodevelopmental outcome
in boys with 47, XXY syndrome at 36 and 72
months of age.
C. Samango-Sprouse, E. Stapleton,
T. Sadeghin, F. Mitchell, T. Dixon, M. Kingery, A.
Gropman.
240
/6:30
A mechanism and treatment strategy for
pregnancy-associated aortic dissection in Marfan
syndrome.
J. P. Habashi, N. Huso, D. Bedja, G. Rykiel,
J. J. Doyle, H. C. Dietz.