Page 69 - ASHG 2012 Annual Meeting Program Guide

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DAILY MEETING HIGHLIGHTS
Thursday, November 8
Diagnostic Challenges: Review and Discussion of Unique Cases
(
Rare and Unknown)
12:45
pm – 2:15 pm, Room 303/305, Esplanade Level South
This event is organized and moderated by Karen W. Gripp, A. I. duPont Hospital for
Children, and Pedro Sanchez, Children’s Hospital Los Angeles/University of Southern
California. The session provides an opportunity for registrants to present cases (rare
and unknown) to a panel of expert clinical geneticists (see below) for discussion of
differential diagnosis, treatment and counseling options. The session provides a lively
give-and-take discussion in an informal environment between the audience and the
panel as each case is presented. Audience participation in suggesting diagnosis or
testing is encouraged.
Panelist
Area of special interest
Margaret Adam
Dysmorphology/Teratology
Cynthia Curry
Dysmorphology
Bill Dobyns
Brain Malformation
Dian Donnai
Dysmorphology
Karen Gripp
Rasopathies/Dysmorphology
Julie Hoover-Fong
Skeletal Dysplasia
Micheil Innes
Dysmorphology
Marilyn Jones
Craniofacial Anomalies
Stephen Kahler
Metabolic Disorders
Pedro Sanchez
LDDB, Possum Database
Anne Slavotinek
Eye Malformation/Diaphragmatic Hernia
Andrea Superti-Furga
Skeletal Dysplasia
Alain Verloes
Dysmorphology
Each case will be presented using PowerPoint, with a limit of six slides and three
minutes per presentation. Best suited are “visuals” with plenty of images.
Any slides
depicting patient information or images must have the consent of the patient.
It is each presenter’s responsibility to obtain consent prior to sharing identifi-
able information.
The discussion by the expert panel will follow the presentation.
Discussion will be limited to five minutes.
Tickets are non-refundable.
Separate
advance registration required and admission is by advance ticket purchase only.
Galaxy 101: Data Integration, Analysis and Sharing
SOLD
OUT
7:00
pm
8:30
pm, Room 304/306, Esplanade Level South
Jennifer Hillman-Jackson, Penn State, and Jeremy Goecks, Emory University, will
present this workshop which is an introduction to Galaxy’s basic functionality as an
analysis and data integration framework for accessible, reproducible, and transparent
biomedical research. In this workshop, participants will learn how to use the Galaxy
Web server
/
)
to integrate and analyze biomedical data, including
how to (1) load and integrate your own data with data from popular online resources;
(2)
perform common analysis/operations on genomic data; and (3) save, share, describe
and publish your analysis and generated datasets.
Tickets are non-refundable.
Sepa-
rate advance registration required and admission is by advance ticket purchase only.
SOLD
OUT