Undiagnosed
Rare Disease Clinic (URDC): Ending the Diagnostic Odyssey
Erin
Conboy, MD
Assistant
Professor of Medical and Molecular Genetics
Indiana
University School of Medicine, Riley Children’s Hospital
Learning
Objectives
At
the conclusion of the conference, participants will be able to:
Summarize the utility
and limitations of Whole Exome Sequencing (WES) in patients with undiagnosed
rare disease.
Explain how Whole
Genome Sequencing (WGS) and RNA sequencing can increase the diagnostic yield
for patients with undiagnosed rare disease.
Summarize the goals of
a multidisciplinary team approach that integrates phenotypic and genomic data
to aid in the diagnosis of patients with rare disease.
