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Tuesday, October 11
SESSION 2 – Panel Discussion: Whole Genome
Sequencing: To Do It or Not to Do It?
Room 210, Level 2, Convention Center
Kevin Davies, Bio-IT World, USA
James Lupski
Baylor Col. of Med., USA
Seong-Jin Kim
CHA Univ., South Korea
James Watson
Cold Spring Harbor Lab., USA
Marjolein Kriek
Leiden Univ., Netherlands
As full-genome sequencing becomes more common, it
is imperative that the human genetics community
understands the personal implications of genome
sequencing as well as the science. In this exciting
opening session, four well-known geneticists whose
genomes have been sequenced will be panelists in a
discussion moderated by the author of “The $1000
Genome”. The scientists will be asked why they
decided to have their genomes sequenced and how it
has affected their lives, professionally and personally.
The discussion will cover both basic information and
provocative questions, and the panel should ignite
lively discussions that persist throughout the
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Wednesday, October 12
SESSION 3 – Plenary Session on Epigenetics
Room 210, Level 2, Convention Center
Yoichi Matsubara, Tohoku Univ. Sch. of
Med., Japan
Mendelian expression of disease has been
documented for more than a century, but the
recognition of complex etiology of phenotypes
resulting from developmental, epigenetic, and
mitochondrial gene expression is much more recent
this session, the speakers will explore multiple
phenomena affecting the interplay between genes a
complex disease, including the role of energy syste
directed by mtDNA and nDNA. In addition, the
stochastic establishment of epigenetic modifications
including DNA methylation and chromatin remodelin
will be presented. Examples of these processes in
normal and abnormal phenotypic models will
demonstrate new understandings of the challenges
clarifying how gene expression interacts with
environmental factors to make genotype/phenotype
correlations more complex.
Y. Matsubara. Tohoku Univ. Sch.
Med., Japan.
mitochondrial etiology of commo
D. C. Wallace. Children’s
Hosp. of Philadelphia, USA.
Epigenetics and determining
E. Whitelaw. Queenslan
Inst. of Med. Res., Australia.
Identification of a mosaic activating mutati
as the molecular basis of Proteus syndrome usin
massively parallel sequencing of affected tissues
L. G. Biesecker, M. J. Lindhurst, J. C. Sapp, J. K. T
J. J. Johnston, K. Peters, J. Turner, D. Bick, L.
Blakemore, K. Brockman, P. Calder, M. Deardorff, D
B. Everman, R. M. Greenstein, B. M. Kato, K. M.
Keppler-Noreuil, R. T. Miyamoto, K. Newman, S.
Rothenberg, D. J. Schwartzentruber, V. Singhal, J.
Upton, S. Wientroub, E. H. Zackai, P. G. Robey, P. L
Schwartzberg, T. N. Darling, L. L. Tosi, J. C. Mullikin
Germline deletion of the miR-17~92 cluste
causes developmental defects in human.
J. Amiel
E. Yao, P. Callier, L. Faivre, V. Drouin, S. Cariou, A.
Haeringen, D. Genevieve, A. Goldenberg, M. Oufade
S. Manouvrier, A. Munnich, J. Alves Vidigal, S.
Lyonnet, A. Henrion-Caude, A. Ventura, L. de Pontu
Questions and answers.
Y. Matsubara. Tohok
Univ. Sch. of Med., Japan.