April 8-9, 2013
Bethesda, MD
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.Â
As always, feel free to contact us with any comments.
Presentations
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
Get Adobe Reader