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Thursday, October 13
8:00
AM
–10:00
AM
Concurrent Invited Session II (24-29)
SESSION 25 – Neurogenetic Pathways Underlying
Speech and Language Disorders
Room 517D, Level 5, Convention Center
Moderators:
Dennis Drayna, NIDCD/NIH, USA; Simon
E. Fisher, Max Planck Inst. for Psycholinguistics,
Nijmegen, Netherlands
Recent exciting discoveries have begun to elucidate
specific genetic risk factors that contribute to speech
and language disorders, which include developmental
verbal dyspraxia, specific language impairment, and
stuttering. The session will bring together leaders in
these areas to discuss the latest findings in humans
and compare them with results from leading studies in
animal models, with the goal of identifying similarities
and differences in etiologies of this important group of
disorders. The session will begin with a presentation
by Dr. Dennis Drayna from the NIH on recent
identification of the first genetic mutations underlying
stuttering. The second talk will be by Dr. Simon Fisher,
who is currently at Oxford but at the time of the
Congress will be at the Max Planck Institute in
Nijmegen. Dr. Fisher will provide an update on the area
speech/language disorders caused by disruptions of
the
FOXP2
transcription factor. The third presentation
will be made by Dr. Dianne Newbury from Oxford, who
will focus on specific language impairment (SLI),
describing the newly discovered role of variants in the
ATPC2
and
CMIP
genes. The fourth presentation will
be by Dr. Lucy Osborne from Toronto, who will discuss
dosage sensitive genes on chromosome 7q11.23 that
are involved in syndromes of speech and language
impairment. These talks will be complemented by the
final presentation by Dr. Constance Scharff from
Berlin, who will discuss comparative studies in
songbirds. This diverse group of speakers will thus
cover the speech and language disorders whose
molecular basis is best characterized at the present
time. Moreover, the session will highlight the breadth
of state-of-the-art approaches that are now being
used to unravel the critical neurogenetic pathways in
these disorders.
8:00
AM
Finding genetic variants that underlie
stuttering.
D. Drayna. NIDCD/NIH, USA.
8:24
AM
Neurogenetic pathways regulated by
FOXP2
, a gene mutated in speech and language
disorder.
S. E. Fisher. Max Planck Inst. for
Psycholinguistics, Nijmegen, Netherlands.
8:48
AM
The role of
ATP2C2
and
C-MIP
in specific
language impairment.
D. Newbury. Oxford Univ., St.
John’s Col., U.K.
9:12
AM
Functional analysis of dosage sensitive
genes at 7q11.23 involved in syndromes of speech
and language impairment.
L. Osborne. Univ. of
Toronto, Canada.
9:36
AM
Gene function analysis of
FoxP2
in
songbirds.
C. Scharff. Free Univ. Berlin, Germany.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperation
Thursday, October 13
8:00
AM
–10:00
AM
Concurrent Invited Session II (24-29)
SESSION 26 – The Nucleus, a Transcription Factory
Room 517A, Level 5, Convention Center
Moderators:
Alexandre Reymond, Univ. of Lausanne
Switzerland; Bernice E. Morrow, Albert Einstein Col.
Med., USA
The establishment and maintenance of differential
patterns of gene expression lie at the heart of
phenotypic differences. It is thus essential to
understand how accurate gene regulation is achieve
in spite of the highly repetitive and complex nature
the mammalian genome. Much work has been
published on the cis-regulatory elements that affect
gene function locally, as well as on the biochemistry
the transcription factors and chromatin-modifying
complexes that influence gene expression. However
surprisingly little information is available about how
these components are organized within the three-
dimensional space of the nucleus. Similarly, the
contribution of sequence variation has remained
elusive. Technological advances are helping to ident
the spatial relationships and interactions of genes a
regulatory elements in the nucleus and revealing an
unexpectedly extensive network of communication
within and between chromosomes. Likewise, they ar
allowing pinpointing causative variants, as well as
identifying the resulting modifications of the chroma
8:00
AM
Transcription and the nuclear peripher
Edge of darkness?
W. Bickmore. MRC Human Ge
Unit, Edinburgh, U.K.
8:30
AM
Transcription factories and nuclear
organization of the genome.
P. Fraser. The
Babraham Inst., Cambridge, U.K.
9:00
AM
DNase I hypersensitive sites
comprehensively define regulatory DNA and
encode epigenetic memory of developmental fat
J. A. Stamatoyannopoulos. Univ. of Washington, US
9:30
AM
Population genetics and genomics of
cellular phenotypes.
E. T. Dermitzakis. Univ. of
Geneva, Switzerland.