NBSTRNetwork Meeting Presentations

April 8-9, 2013

Bethesda, MD

Photo of the NBSTRN Network MeetingPhoto of Amy Hoffman presenting at the NBSTRN Network MeetingPhoto of a presentation at the NBSTRN Network Meeting

We'd like to extend a warm "thank you" to all who participated in making this meeting a great success! We had a wonderful turn out for our Network Meeting on April 8-9th. We learned about the tools and resources available through the Newborn Screening Translational Research Network (NBSTRN), heard from grantees working with the NBSTRN, and discussed the implications of next generation sequencing on newborn screening. We also had presentations from other researchers working in NBS and learned about research opportunities throughout NIH. Overall, it was a very productive day and a half and will help us to prepare for the next phase of the NBSTRN.

In order to improve our efforts, we've developed a brief feedback survey. Please visit http://surveys.acmg.net/redcap/surveys/?s=Eajw4H to provide us your feedback on the Network Meeting. 

As always, feel free to contact us with any comments.


NBSTRN Update - Michael Watson, Amy Hoffman, and Amy Brower

SCID Pilot Update - Michele Caggana, Roshini Abraham, and Amy Brower

Novel Technologies in NBS - Dietrich Matern

LSD Pilot - Melissa Wasserstein

NBS Screening for MD and SMA - Edwin Naylor

SMA Pilot - Kathy Swoboda (presented by Amy Brower)

Inborn Errors of Metabolism Collaborative - Susan Berry, Cynthia Cameron, and Amy Brower

NBS in the Genomic Era - Tiina Urv

Whole Genome Sequencing - Eric Boerwinkle

Added Value of WGS - Leslie Biesecker

ELSI Components of WGS - Jeffrey Brosco

Use of DBS in Iowa - Kelli Ryckman

Use of DBS in California - Gary Shaw

Novel technologies for NBS in Illinois and Missouri - Vamsee Pamula

Use of DBS in Washington - Susan Elliott

Use of DBS in Artic Variant of CPT1A - David Koeller

NBS for Brain Creatine Deficiency Syndromes - Nicola Longo

Therapeutic Opportunities in NBS Disorders - Melissa Parisi

NHLBI's Work with Hemoglobinopathies - Ellen Werner

NCATS Resources and Initiatives - David Eckstein

NICHD's NBS Portfolio - Tiina Urv

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Published On: 
Thursday, April 25, 2013