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NSIGHT Public Webinar

November 18, 2015

6001 Executive Blvd.
North Bethesda, Md. 20852

Newborn baby feet and letters of A, T, C, GThe Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program was started in September 2013 with support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genomic Research Institute (NHGRI), two components of the National Institutes of Health.

The purpose of the program is to explore the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.

The NSIGHT program consists of four sites: Brigham and Women's Hospital, Boston Children's Hospital, Children's Mercy Hospital, Kansas City, University of California San Francisco and University of North Carolina at Chapel Hill.

Each site presented an update on their research during the webinar.

Tweets from the Webinar: #NIH_NSIGHT PDF file
NIH Media Contacts
Public Information Officers

Schedule of Presentations

9:30-9:40 a.m.

Tina Urv and Anastasia Wise

Introductions
Presenters: Anastasia Wise and Tina Urv
National Human Genome Research Institute
Eunice Kennedy Shriver National Institute of Child Health and Human Development

YouTube video Video | Slides PDF file(Wise / Urv)


9:40-10:00 a.m.

Cynthia Powell

North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) Project
Presenter: Cynthia Powell
University of North Carolina at Chapel Hill

YouTube video Video | Slides PDF file

The North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project is studying the usefulness of this type of genetic testing in healthy newborns and those with conditions identified through standard newborn screening. The project is also developing tools to help parents make informed decisions about participating in this research.


10:00-10:20 a.m.

Jennifer Puck and Barbara Koenig

NBSeq Project
Presenters: Jennifer Puck and Barbara Koenig
University of California, San Francisco (UCSF)

YouTube video Video | SlidesPDF file(Puck)
YouTube video Video (Koenig)

The UCSF NBSeq project explores potential applications of whole exome sequencing (WES) to public health newborn screening (NBS). In this presentation, we discuss WES from dried blood spots to diagnose newborns identified through screening for severe combined immunodeficiency (SCID), as well as preliminary results from focus groups examining parents' views and value preferences regarding NBS with WES.


10:20-10:40 a.m.

Stephen Kingsmore

Clinical and Social Implications of 2-day Genome Results in Acutely Ill Newborns
Presenter: Stephen Kingsmore
Children's Mercy Hospital - Kansas City, Mo.
Rady Children's Hospital - San Diego

YouTube video Video | Slides PDF file

There are 8,000 genetic diseases. Together they are the leading cause of death in infants, especially those in Neonatal Intensive Care Units. We have developed methods for diagnosis of genetic diseases in 26 hours using whole genome sequencing. We are investigating the usefulness of 26-hour genomes for management of acutely ill infants.


10:40-11:00 a.m.

Alan Beggs, Meghan Towne and Ingrid Holm

The BabySeq Project
Presenters: Alan Beggs, Meghan Towne and Ingrid Holm
Brigham and Women's Hospital, Boston, Mass.
Boston Children's Hospital, Boston, Mass.
Baylor College of Medicine, Houston, Texas

YouTube video Video | Slides PDF file(Holm)
YouTube video Video (Towne)

How can access to one's genome from the beginning of life shape healthcare? The BabySeq Project performs sequencing on healthy and sick newborns, returning results to explore how families and doctors use this information. The data remains available if the child later develops a disorder with a possible genetic cause.


NIH Media Contacts

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Public Information Officers

  • Brigham and Women's Hospital, Boston, Mass.
    Haley Bridger
    Senior Media Relations Specialist
    (617) 525-6383
    E-mail: hbridger@partners.org
  • Boston Children's Hospital, Boston, Mass.
    Keri Stedman
    Senior Media Specialist
    (617) 919-3110
    E-mail: Keri.Stedman@childrens.harvard.edu
  • Children's Mercy Hospital - Kansas City, Mo.
    Jake Jacobson
    Manager, National Media Relations
    (816) 701-4097 (office)
    (913) 406-2060 (cell)
    E-mail: jajacobson@cmh.edu

    Melissa Novak
    Director, Communications and Marketing
    (816) 346-1341 (office)
    (913) 488-9798 (cell)
    E-mail: mdnovak@cmh.edu
  • Rady Children's Hospital - San Diego
    Ben Metcalf
    Communications Manager
    (858) 966-8579
    E-mail: bmetcalf@rchsd.org

    Traci Stuart
    Senior Director, Marketing Communications
    (619) 993-7032
    E-mail: tstuart@rchsd.org
  • University of California, San Francisco
    Kristen Bole
    Assistant Director, Public Affairs
    (415) 476-2743
    E-mail: kristen.bole@ucsf.edu
    Immunology, Anethesiology, ARRA, Biotechnology

  • University of North Carolina at Chapel Hill
    Danielle Bates
    Communications Director
    N.C. Children's Hospital
    (984) 974-8870 (office)
    E-mail: dbates@med.unc.edu

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Last Updated: November 23, 2015