Rare Disease Week
Increasing Solve Rates to Support the Development of Diagnostics for Rare Diseases with New Whole Genome Sequencing Technologies
About the Event
Join us for this 3-day global virtual event to learn how scientists are using highly accurate long-read sequencing in large-scale studies to help identify causative variants and increase solve rates in rare disease research, shortening the diagnostic odyssey for rare and undiagnosed diseases.
The Event Features
Agenda Highlights
All presentations are now available for on-demand viewing.
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11:00 a.m. - 12:00 p.m. PDT
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7:00 - 8:00 p.m. BST
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2:00 - 3:00 a.m. SGT (April 28)
Keynote Speaker: Tomi Pastinen, M.D., Ph.D.
Director, Genomic Medicine Center, Professor of Pediatrics, University of Missouri-Kansas City School of Medicine
Hear from Dr. Pastinen about Genomic Answers for Kids, a large-scale initiative aimed at translating the latest research approaches and high-quality genomic data into answers for children and families affected by rare diseases. Dr. Pastinen's keynote will be preceded by an introduction, The Present and Future of HiFi Whole-Genome Sequencing for Rare Disease Research, by Aaron Wenger, Ph.D., PacBio.
Following the keynote, there will be a separate live Q&A session.
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10:00 - 11:00 p.m. PDT
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6:00 - 7:00 a.m. BST (April 29)
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1:00 - 2:00 p.m. SGT (April 29)
Keynote Speaker: Naomichi Matsumoto, M.D., Ph.D.
Professor, Graduate School of Medicine, Yokohama City University
Hear from Dr. Matsumoto about the utility of HiFi long-read whole genome sequencing for increasing solve rates in rare disease research. Dr. Matsumoto's keynote will be preceded by an introduction, The Present and Future of HiFi Whole-Genome Sequencing for Rare Disease Research, by Aaron Wenger, Ph.D., PacBio.
Following the keynote, there will be a separate live Q&A session.
7:00 - 7:30 a.m. PDT
3:00 - 3:30 p.m. BST
10:00 - 10:30 p.m. SGT
Keynote Speaker: Alexander Hoischen, Ph.D.
Associate Professor of Genetics, Radboud University Medical Center
Hear from Dr. Hoischen about the application of long-read sequencing technologies to identify hidden structural variants—some of which remained camouflaged by standard approaches—in rare disease research.
Dr. Hoischen's talk will be followed by a live panel discussion.
Panel Discussion
Peter (PacBio), Andrew (Google), etc...
Moderator:
Jen Stone
For Research Use Only. Not for use in diagnostic procedures.
© Copyright 2021 by Pacific Biosciences of California, Inc. All rights reserved.