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Diagnostic Challenges: Review and Discussion of Unique Cases
Especially for Clinicians and Counselors
12:30 pm – 2:00 pm, Room 524, Level 5
Diagnostic Challenges is organized and moderated by Karen Gripp. The sessi
provides an opportunity for registrants to present cases to a group of expert clini
geneticists. Please remember to bring your cases to the session. The setting allo
discussion of unusual cases in an informal setting. A light lunch will be provid
Cases may be diagnostic dilemmas, or consultation may be sought for confirmation
a suspected diagnosis. The consultants have expertise in dysmorphology, rasopathi
metabolic disorders, skeletal dysplasia, brain malformations, etc. Please see list
consultants below.
Friday, 12:30 pm–2:00 pm Area of special interest
Cynthia Curry
Micheil Innes
Dysmorphology; Ciliopathies
Marilyn Jones
Craniofacial anomalies
Karen Gripp
Rasopathies, dysmorphology
Stephen Kahler
Metabolic disorders
David Rimoin
Skeletal dysplasia
Pedro Sanchez
LDDB, Possum database
Anne Slavotinek
Eye malformation; Diaphragmatic hernia
Alain Verloes
Rasopathies, dysmorphology
Each case will be presented using PowerPoint slides, with a limit of six slides a
three minutes per presentation. Best suited are “visuals” with plenty of images. Y
may bring more than one case. Label each PowerPoint file with your own name, a
a number if you have more than one case.
Any slides depicting patient informati
or images must have the consent of the pat ient . It is each presenter
responsibility to obtain consent prior to sharing identifiable information.
discussion by the expert panel will follow the presentation.
Audience participati
is encouraged.
Discussion will be limited to 5 minutes. When you enter the sessi
room, please load your case into the computer at the front of the room (before t
session begins).
If you have questions or suggestions, you may contact Karen Gripp via e-mail
Attendees are asked to be respectful of their colleagues by silencing all c
phones and PDA devices before entering the session. Cameras and all oth
recording devices are strictly prohibited. Thank you for your cooperation.
Saturday, October 15
Plenary Session: Diseases, Populations and Evolution: From the Cellular to t
10:30 am – 12:30 pm, Room 210, Level 2
In this session moderated by Partha Majumder, the speakers Michael Stratton a
Lalji Singh will address many of the clinical, molecular and statistical challenges
deciphering complex traits. See page 141 for a complete description of this sessi