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    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

    Keynote presentations
    from leading experts in unfolding medical mysteries with novel genomic insights
    Panel discussion
    with scientists and industry experts on the role advances in sequencing technologies and bioinformatics can play in shedding light on previously unsolved cases
    On-demand workshops & drop-in sessions
    on the wet lab, sequencing, and bioinformatic workflows available for large-scale studies

    Agenda Highlights

    All presentations are now available for on-demand viewing.
     

    April 27

    .

    11:00 a.m. - 12:00 p.m. PDT

    .

    7:00 - 8:00 p.m. BST

    .

    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

    Talk Title

    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.

    April 28

    .

    10:00 - 11:00 p.m. PDT

    .

    6:00 - 7:00 a.m. BST (April 29)

    .

    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

    Talk Title

    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.

    April 29

    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

    Talk Title

    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

    Register to Start Watching

    PacBio
    Pacific Biosciences of California, Inc. 1305 O'Brien Dr., Menlo Park, CA 94025
    For Research Use Only. Not for use in diagnostic procedures.
    © Copyright 2021 by Pacific Biosciences of California, Inc. All rights reserved.
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