Page 101 - ASHG 2013 Program Guide

88
INVITED AND PLATFORM SESSIONS
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Thursday, October 24
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session B (19-27)
SESSION 19 – Hereditary Cancer Syndromes
Hall B2, Level 0 (Lower Level), Convention Center
Moderators
:
Katherine Nathanson, Univ. of
­
Pennsylvania; Melissa Southey, Univ. of Melbourne
88
/8:00
Rare mutations in
RINT1
predispose
carriers to early-onset breast cancer.
D. J. Park,
K. Tao, F. Le Calvez-Kelm, T. Nguyen-Dumont, N.
Robinot, F. Hammet, F. Odefrey, H. Tsimiklis, Z. L.
Teo, L. B. Thingholm, C. Voegele, A. Lonie, B. J.
Pope, E. M. John, I. L. Andrulis, M. B. Terry, M. Daly,
S. Buys, G. G. Giles, J. L. Hopper, D. E. Goldgar, F.
Lesueur, S. V. Tavtigian, M. C. Southey, Breast Cancer
Family Registry, kConFab.
89
/8:15
The BER glycosylase
NEIL1
is a risk gene
for familial breast cancer.
M. R. Dufault, E. Hahnen,
H. Hellebrand, J. Hauke, G. Neidhardt, S. Engert, S.
Preissler-Adams, N. Arnold, T. M. Strom, K. Rhiem,
B. Wappenschmidt, N. Ditsch, R. K. Schmutzler, A.
Meindl.
90
/8:30
More than 25% of breast cancer families
with wild-type results from commercial genetic
testing of
BRCA1
and
BRCA2
are resolved by
BROCA sequencing of all known breast cancer
genes.
T. Walsh, S. Casadei, M. K. Lee, A. M.
Thornton, G. Bernier, C. Spurrell, J. Mandell, T. Lajus,
E. Swisher, M.-C. King.
91
/8:45
Nine genes for inherited predisposition to
breast cancer among African American women.
O. I. Olopade, T. Walsh, Y. Zheng, S. Casadei, A. M.
Thornton, M. K. Lee, M. Churpek, D. Huo, C. Zvosec,
F. Liu, Q. Niu, J. Zhang, J. Fackenthal, M.-C. King, J.
E. Churpek.
92
/9:00
Germline loss-of-function mutations in 15
different DNA repair genes are present in 22% of
1412
patients with ovarian, peritoneal or fallopian
tube cancers not selected for age at diagnosis or
family history.
M. I. Harrell, B. Norquist, T. Walsh, M.
K. Lee, S. Casadei, K. P. Pennington, K. J. Agnew, A.
Thornton, M. C. King, M. J. Birrer, E. M. Swisher.
93
/9:15
The Mainstreaming Cancer Genetics
Programme — Integrating genetic testing into
routine clinical practice in the United Kingdom.
N. Rahman, S. Mahamdallie, E. Ruark, H. Hanson, I.
Slade, A. George, K. Snape, R. Sultan, A. Rimmer,
M. Munz, G. Lunter, S. Banerjee, C. Turnbull,
Mainstreaming Cancer Genetics Consortium.
Wednesday, October 23
2:00
PM
–4:15
PM
Concurrent Platform (abstract-driven)
Session A (10-18)
SESSION 18 – Inborn Errors of Metabolism: From
Identification to Treatment
Grand Ballroom CDE, Concourse Level, Westin Boston
Waterfront Hotel
Moderators
:
Irini Manoli, NHGRI/NIH; Manuel Schiff,
Univ. of Pittsburgh
79
/2:00
A novel treatable disorder of protein
glycosylation: Phosphoglucomutase 1 deficiency.
E. Morava, T. Marquardt, J. Cegielska, K. Raymond, C.
Stanley, D. Lefeber.
80
/2:15
Mutations in
HCFC1
a transcriptional
coregulator causes a novel X-linked cobalamin
disorder (
cblX
)
with a severe neurological
phenotype.
T. H. Shaikh, H. C. Yu, J. L. Sloan, G.
Scharer, A. Brebner, A. Quintana, N. P. Achilly, I.
Manoli, C. R. Coughlin, E. A. Geiger, U. Schneck, D.
Watkins, J. L. VanHove, B. Fowler, M. R. Baumgartner,
D. S. Rosenblatt, C. P. Venditti.
81
/2:30
Prediction of phenotypes and
tetrahydrobiopterin-responsiveness in
phenylketonuria using data from the genotypes
and locus-specific databases.
N. Blau, S. Wettstein,
W. W. Yue, J. Underhaug, B. D. Marsden, A. Martinez,
A. Honegger, B. Perez.
82
/2:45
Three apparent pseudo-deficiency alleles in
the
IDUA
gene identified by newborn screening.
L. M.
Pollard, S. R. Braddock, K. M. Christensen, D. J. Boylan,
L. D. Smith, B. A. Heese, A. M. Atherton, C. E. Lawson,
M. E. Strenk, M. Willing, L. Manwaring, T. C. Wood.
83
/3:00
Atherosclerosis and glycosaminoglycan
metabolism defects: Frequent association
of endothelial dysfunction in patients with
mucopolysaccharidosis.
S. Yano, K. Moleley, L.
Wong, C. Castelnovi, C. Azen, Z. Pavlova.
84
/3:15
First results of a 6 month, open label, phase
I/II clinical trial of intrathecal enzyme replacement
therapy and its extension in mucopolysaccharidosis
IIIA (Sanfilippo syndrome) patients.
C. Breen, P.
Haslett, F. A. Wijburg, J. de Ruijter, J. P. Marchal, F.
Heap, S. Rust, K. Baez, N. Nair, S. A. Jones.
85
/3:30
Development of AAV8-mediated gene
therapy clinical trial for Crigler-Najjar syndrome type
I: Optimization of liver-specific expression cassette.
N. Pastore, E. Nusco, A. Auricchio, N. Brunetti-Pierri.
86
/3:45
Identification of chemical and
pharmacological chaperones to treat Zellweger
spectrum patients with the common allele,
PEX1-
Gly483Asp
.
N. E. Braverman, S. J. Steinberg, S.
Heibler, G. E. Maclean.
87
/4:00
Efficacy of hematopoietic cell therapy in
X-linked adrenoleukodystrophy: A multinstitutional
study (ALD-101).
G. Raymond, P. Orchard, P.
Aubourg, M. Escolar, J. Kurtzberg, S. Paadre, J. Balser.