Shaning light on rare genetic disorders

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.

Agenda:

Welcome & Introduction

15:00-15:10 CET

Measuring clinical utility of genomics sequencing for rare genetic disorders

15:10-15:45 CET