PMLS Virtual Series 2021 – Precision Medicine & Rare Disease

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June 10, 2021

10:00-10:30am EST

Keynote

Mike Might, PhD, Professor, Internal Medicine and Computer Science; Hugh Kaul Endowed Chair, Personalized Medicine; Director, Hugh Kaul Precision Medicine Institute

10:35-11:00am  EST

Precision 20

TBD

11:05-11:55am  EST

Panel Discussion

Moderator: Christina Waters, PhD, MBA, Chief Executive Officer and Founder, RARE Science

12:00-12:25am  EST 

Strategies for Improving the Diagnostic Yield of WGS/WES in Rare Disease

Jeanette McCarthy, MPH, PhD, Senior Director, Scientific Programs, Fabric Genomics

Next-gen sequencing provides diagnoses for thousands of children with rare disease every year, but approximately 60% of cases remain unsolved. In this presentation, we’ll discuss strategies for improving the diagnostic yield, including expanded reporting, incorporation of CNV analysis and routine reanalysis.

12:30-1:15pm    EST

Panel Discussion

TBD

1:20-2:05pm      EST

Panel Discussion

TBD

2:10-2:55pm      EST 

Panel Discussion

TBD