Page 118 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
107
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INVITED AND PLATFORM SESSIONS
Friday, November 9
8:00
AM
–10:15
AM
Concurrent Platform (abstract-driven)
Session D (47-55)
(
SESSION 55, continued)
329
/9:45
Mutation in
PNPT1
gene, which encodes a
mitochondrial polyribonucleotide
nucleotidyltransferase, causes encephalopathy with
choreo-athetotic movements.
V. Vedrenne, A.
Gowher, P. De Lonlay, P. Nitschke, V. Serre, N.
Boddaert, C. Altuzarra, A. M. Mager-Heckel, F.
Chretien, N. Entelis, I. Tarassov, A. Munnich, A. Rotig.
330
/10:00
Comprehensive analysis of 101 nuclear
genes for molecular diagnosis of mitochondrial
disorders.
R. Bai, J. Higgs, S. F. Suchy, S. Buchholz,
D. Arjona, B. Boggs, C. Chinault, N. Smaoui, S.
Benhamed, J. Compton, Y. Shevchenko, G. Richard,
S. Bale, F. D. Kendall, S. Parikh, A. L. Gropman,
W. Chung, A. Goldstein, S. E. Palmer, J. A. Panzer,
S. W. Yum, M. J. Falk.
Friday, November 9
10:30
AM
–11:15
AM
SESSION 56 – Gruber Genetics Prize Award
Presentation and Rosalind Franklin Young Investigator
Award Announcement
Hall D, Lower Level North, Moscone Center
The Genetics Prize is awarded annually by The Gruber
Foundation. The Genetics Prize is presented to a
leading scientist, or up to three, in recognition of
groundbreaking contributions to any realm of genetics
research. The recipient will be presented with a gold
medal and a $500,000 unrestricted cash award.
Recipient
:
Douglas Wallace, PhD
Prof. of Pathol. and Lab. Med., Univ. of Pennsylvania
Ctr. of Mitochondrial and Epigenomic Med., Children’s
Hosp. of Philadelphia
The 2012 Genetics Prize of The Gruber Foundation will
be presented to pioneering geneticist Douglas
C. Wallace for the discovery of mutations in the
mitochondrial genome and their impact on human
health and disease.
Dr. Wallace will deliver a lecture entitled, “A
Bioenergetic Perspective on Origins, Health, and
Disease”.
Life is the interplay between structure (anatomy),
energy (vital force), and the information to encode
the structural and energetic systems. Classical
Western biomedical thought has taken an anatomical
perspective on disease and a Mendelian perspective
on genetics. However, these perspectives are proving
increasingly inadequate to explain the biological and
genetic basis of complex diseases, cancer, and aging.
To augment this classical perspective, we need to
consider the bioenergetics of the eukarotic cell which
is centered on the symbiotic bacterium known as the
mitochondrion. The mitochondrion has its own DNA,
the mitochondrial DNA (mtDNA), which encodes the
core cellular energy genes. Mutations in the mtDNA
have been found to cause the full range of complex
disease phenotypes, the thousands of mtDNAs per
cell provides an alternative explanation for quantitative
genetic traits, and the analysis of mtDNA variation
in human populations has offered new insights
into ancient ancestral migrations and adaptation
to alternative environments. The causal role of
bioenergetic changes in complex disease has been
validated by the introduction of mtDNA mutations into
mice which then manifest common complex disease
phenotypes. The recognition of the dichotomy
between anatomical-chromosomal genes and
bioenergetic-mtDNA genes has generated new insights