Page 141 - 30917_ASHG_Complete

This is a SEO version of 30917_ASHG_Complete. Click here to view full version

« Previous Page Table of Contents Next Page »
Saturday, October 15
8:00
AM
–10:00
AM
Concurrent Invited Session IV (61-66)
SESSION 62 – Quantitative Traits in Neurogenetics: The
Future of Phenotyping in Neurological, Psychiatric and
Developmental Disorders
Room 517BC, Level 5, Convention Center
Moderators:
Barbara Franke, Radboud Univ. Nijmegen
Med. Ctr., Netherlands; Tricia A. Thornton-Wells,
Vanderbilt Univ., USA
Progress in the study of neurogenetics in humans has
been hampered by clinical heterogeneity and a dearth
of phenotypic measures that are proximal to
neurobiology, much less genetic etiology. Increasingly,
neurogenetics researchers are utilizing multiple
strategies for collecting rich phenotypic data.
Neuropsychological testing is evolving to emphasize
etiology rather than just symptomology. There are now
multiple neuroimaging technologies that give us a
window into in vivo brain structure, function and even
histology. Also, the search is well underway for
suitable biomarkers of disease from cerebrospinal fluid
and from whole blood gene expression profiling.
Studies involving such quantitative phenotypes might
offer greater insight into the underlying biology of
disease than their predecessors that simply used a
dichotomous disease status. This session will present
examples of neurogenetics research programs that go
beyond disease status to utilize quantitative traits,
which are potentially more proximal to genetic
etiology.
8:00
AM
Introduction.
B. Franke. Radboud Univ.
Nijmegen Med. Ctr., Netherlands.
8:05
AM
Biomarkers in psychiatry: From genetics
to biology to predictive medicine.
A. B. Niculescu.
Indiana Univ. Sch. of Med., USA.
8:25
AM
Low
CD38
expression in lymphoblastoid
cells is associated with autism, correlates with IQ
and social skills and is reversed by all-trans
retinoic acid.
R. Ebstein. Natl. Univ. of Singapore,
Singapore.
8:45
AM
Intermediate imaging phenotypes and
risk mechanisms of psychiatric disorders.
P. Kirsch.
Central Inst. of Mental Hlth. and Mannheim Sch. of
Med., Germany.
9:05
AM
Genomic imaging: The identification of
genes involved in brain structure and function.
J.
Blangero. Texas Biomed. Res. Inst., San Antonio, USA.
9:25
AM
Putting it all together: ENIGMA, enabling
neuroImaging genetics through meta-analysis.
S. E.
Medland. Queensland Inst. of Med. Res., Herston,
Australia.
9:45
AM
Questions and answers.
T. A. Thornton-
Wells. Vanderbilt Univ., USA.
Cameras and all other recording devices are
strictly prohibited
in all session rooms. Thank you for your cooperati
Saturday, October 15
8:00
AM
–10:00
AM
Concurrent Invited Session IV (61-66)
SESSION 63 – Lysosomes and Genetic Diseases
Room 520, Level 5, Convention Center
Moderators:
Andrea Ballabio, Telethon Fndn. Inst. of
Genet. and Med., Naples, Italy; David C. Rubinsztei
Cambridge Inst. for Med. Res., U.K.
Lysosomes are dynamic membrane-bound organelles
that receive and degrade macromolecules from the
secretory, endocytic, autophagic and phagocytic
pathways. They are also important recycling centers o
the cell. Defects in lysosomal function cause a large
number of severe genetic diseases that result from
lysosomal enzyme deficiencies, aberrant membrane
trafficking through the late endocytic pathway and
alterations in lysosomal ion concentrations. Lysosome
are also involved in several common neurodegenerati
diseases such as Alzheimer’s, Parkinson’s and
Huntington’s, either directly or through their role in the
authophagy pathway. The session aims at shedding li
on how an imbalance in the endo-lysosomal membra
trafficking system has a crucial role in lysosomal stora
disorders and neurodegenerative diseases and how th
modulation of these trafficking pathways can be
instrumental in the design of new therapeutic strategie
This session will bring together experts in different
disciplines (e.g. cell biology, systems biology, human
genetics, molecular biology, biochemistry etc.) to furth
our understanding on the mechanisms of lysosomal
homeostasis and dysfunction and discuss emerging
therapies for the treatment of lysosome-related diseas
The rationale of this session is to share knowledge
coming from leading-edge laboratories in the field aim
at outlining the common features of the pathogenic
mechanisms that involve the dysfunction of the endo-
lysosomal system. Specific topics include: the endo-
lysosome system, biological mechanisms of lysosoma
disorders and neurodegenerative diseases, and
therapeutic approaches to disease.
8:00
AM
Introduction.
A. Ballabio. Fondazione
Telethon, Naples, Italy.
8:05
AM
Role of the lysosomal sialidase NEU1
negative regulator of lysosomal exocytosis in
pathogenesis.
A. D’Azzo. St. Jude Children’s Res.
Hosp., USA.
8:25
AM
The curious case of
CLN3
.
B. L.
Davidson. Univ. of Iowa, USA.
8:45
AM
Autophagy, a guardian against
neurodegeneration.
D. C. Rubinsztein. Cambridge
Inst. for Med. Res., U.K.
9:05
AM
Role of the endo-lysosomal system in
neurodegenerative diseases.
R. A. Nixon. New Yo
Univ., USA.
9:25
AM
Modulating lysosomal function and
cellular clearance.
A. Ballabio. Fondazione Teletho
Naples, Italy.
9:45
AM
Discussion.
A. Ballabio. Fondazione
Telethon, Naples, Italy.