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PhenoTips Speaker Series Presents: Advances in Rare Disease Diagnosis
Advances in Rare Disease Diagnosis
Join us live on September 9th 12:00 to 1:15 pm EDT, 4:00 to 5:15 pm GMT, for the 13th installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis.”

Advances in Rare Disease Diagnosis is a panel discussion and interactive Q & A with world-renowned clinicians and researchers known for their pioneering work in the rare disease space. Our panel of experts features:
• Dr. Stephen Kingsmore, CEO and President at Rady Children's Institute for Genomic Medicine, official titleholder of the Guinness World Records designation for the fastest genetic sequencing, accomplished in just 26 hours.
• Dr. Marshall Summar, Children’s National’s Chief of the Division of Genetics and Metabolism and Director of the Rare Disease Institute, the largest clinical division of its kind serving over 8,000 rare diseases patients a year.
• Dr. Ellen Thomas, Clinical Lead for Rare Disease at Genomics England, having previously worked on the delivery of the 100,000 Genomes Project, with a current focus on Genomics England's contributions to the Genomic Medicine Service.

In this panel discussion, moderated by Dr. Pawel Buczkowicz, experts will address:
• The latest technological advances helping to reduce the diagnostic odyssey for patients
• The greatest challenges faced by patients and clinicians and methods to overcome them
• The role of bioinformatics in the analysis of large datasets generated from sequencing
• The role of rare disease diagnosis in precision medicine.

Event breakdown:
• 55 minute panel discussion
• 20 minute audience Q & A

Register for free

Sep 9, 2021 12:00 PM in Eastern Time (US and Canada)

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