Wed, Nov 11|
Shaning light on rare genetic disorders
Join Illumina virtual event to find out how advances in whole genome sequencing have brought newfound insights into rare disease analysis.
Time & Location
Nov 11, 2020, 3:00 PM – 6:30 PM GMT+1
About the Event
More than 300 million people world-wide1 and an estimated 6% of the population2,3,4 are affected by rare disease. Currently there are >6000 known rare diseases4, 80% have a known genetic etiology5, 50% affecting children under the age of five1 and 4.5% of children present annually with a genetic condition6. WGS offers the opportunity to shorten the diagnostic odyssey and is broadly accepted to become standard of care for rare diseases. It also has the ability to detect many variant classes simultaneously allowing for a much more thorough investigation of the genomic context of disease.
Welcome & Introduction
Measuring clinical utility of genomics sequencing for rare genetic disorders
WGS workflow for Rare Disease: Rapid DNA to filtered, prioritized variant report
Live Q&A with the Illumina Experts
Clinical evaluation of WGS for ID/DD versus current standard of care
Genome First: Genome-based Diagnostics and Management of Patients
Live Q&A with the invited speakers