Saturday, April 12 | 3:15–4:15 p.m.
Heidi Rehm, Ph.D., Massachusetts General Hospital & Broad Institute of MIT and Harvard
Despite major technological advances in genomic sequencing and data analysis, the majority of individuals with a suspected genetic disorder do not receive a molecular diagnosis. So where is the gap and how do we address it? This talk will present strategies to identify novel causes of rare disease including the application of new technologies and analysis methods as well as building innovative approaches to global data sharing.
After attending this presentation, participants should be able to:
• Define methods that can improve the diagnostic yield of genetic testing for rare disease
• Describe the benefit of data sharing to solve rare disease
Ahmad Abou Tayoun, Ph.D., Dubai Health
This presentation will discuss how new applications, such as rapid whole genome sequencing, and new technologies, such as long-read whole genome sequencing, are enhancing the diagnostic yield of current standard-of-care testing, which is mainly based on short-read exome sequencing. The speaker will present data and cases from their experience using the new applications/technologies in Dubai.
After attending this presentation, participants should be able to:
• Understand diagnostic yield of current standard of care genomic testing in the Middle East
• Understand the utility of rapid whole genome sequencing for critically ill patients this part of the world
• Appreciate the added of value of long read sequencing for diagnosing patient with rare diseases.
The program includes sessions, networking opportunities, industry spotlights and more.
View program
