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Saturday, October 15
Concurrent Invited Session IV (61-66)
SESSION 66 – Intellectual Disability and Autism: Two
Sides of the Same Coin
Room 210, Level 2, Convention Center
Charles E. Schwartz, Greenwood Genet.
Ctr., Greenwood, SC, USA; Giovanni Neri, Catholic
Univ. of Rome, Italy
Autistic disorder (AD) and intellectual disability (ID) are
neurodevelopmental disorders comprised of patients
representing a constellation of numerous conditions or
syndromes. They are recognized in childhood, persist
into adulthood requiring long-term family involvement
and a significant level of social services. The causation
of AD is known in less than 20% of cases and greater
than 90% of patients have no known family history.
For ID, after extensive evaluation and laboratory
testing, at least 50% of individuals with ID cannot be
assigned a definitive diagnosis. However, with recent
advances in cytogenetics, sequencing and systems
biology, important inroads have been made in
unraveling the genetics of these two very important
neurodevelopmental disorders. This session will
present overviews of recent CNV findings, the
movement from research to diagnosis, the role of
synaptic pathways and the promise of systems biology
to integrate many levels of data into an
understandable model of CNS function.
C. E. Schwartz. Greenwood
Genet. Ctr., Greenwood, SC, USA.
Aspects of clinical genetics in autism
spectrum disorders: Patient evaluation, diagnostic
tests and counseling of families.
F. Gurrieri. Univ.
Cattolica S. Cuore, Rome, Italy.
Disruption of synaptic pathways in
intellectual disability and autism spectrum
J. D. Buxbaum. Mount Sinai Med. Ctr.,
Copy number variation and variability in
neuropsychiatric disease.
E. E. Eichler. Univ. of
Washington, USA.
Functional impact of global rare copy
number variation in autism spectrum disorder.
W. Scherer. Hosp. for Sick Children, Toronto, Canada.
Functional genomic investigations of
autism suggests molecular convergence.
Geschwind. UCLA, USA.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Saturday, October 15
SESSION 67 – Plenary Session: Diseases, Population
and Evolution: From the Cellular to the Continental
Room 210, Level 2, Convention Center
Partha Majumder, Natl. Inst. of Biomed.
Genomics, India
As the structure, sequence, and function of the
genome are delineated, scientists are using that
information to understand the origins of populations
well as the origins of specific diseases. Cancers, wit
their somatic changes, provide an opportunity to
compare constituent DNA sequence and tumor
sequence to learn about DNA changes related to th
origin of the disease(s). The cataloging of these
sequences, mutations, and structural alterations will
help us determine the evolutionary processes of
cancer development, which should improve preventi
and treatment. Equally challenging is the evolution o
human populations with respect to the origins and
frequencies of genetic disease. India, with over 450
anthropologically defined groups, comprises
tremendous human genetic diversity, and the
relationship among those populations is currently
being defined. Differences reflect geographic, caste,
and other ancestral variations. Genetic variations als
can be related to differences in the distribution and
frequency of specific genetic disorders. In this sessi
the speakers will report on their own work resolving
medically relevant evolutionary genetic relationships
two very different scales.
P. Majumder. Natl. Inst. of
Biomed. Genomics, India.
Evolution of the cancer
M. R. Stratton. Wellcome
Trust Sanger Inst., U.K.
Genetic diversity in Indian
populations and its health
L. Singh. Ctr. for Cellu
and Molec. Biol., CSIR, India.
The genetic history of Native American
D. Reich, N. Patterson, D. Campbell, A. Tandon, S.
Mazieres, N. Ray, C. M. Bravi, M.-C. Bortolini, F.
Salzano, M. L. Letzl-Erler, V. Acuña-Alonzo, S.
Canizales-Quniteros, T. Tusié-Luna, J. Molina, A.
Carracedo, C. Gallo, G. Alkorta-Aranburu, D. Labud
R. Barrantes, L. Excoffier, G. Bedoya, F. Rothhamme
W. Klitz, J. Kidd, K. Kidd, A. Di Rienzo, N. Freimer,
Price, A. Ruiz-Linares.