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Department of Health and Human Services
Advisory Committee on Heritable Disorders in Newborns and Children
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Twenty Ninth Meeting of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children

January 31-February 1, 2013

Day 1 Presentations

User’s Guide to SACHDNC Decision Matrix (PDF - 287 KB)
Alex Kemper, MD, MPH, MS

Proposed Committee Use of Matrix (PDF - 907 KB)
Joseph Bocchini, MD
Sara Copeland, MD

Newborn Screening for Pompe Disease: Preliminary Evidence Review and Public Health Impact (PDF - 837 KB)
Alex Kemper, MD, MPH, MS

Population-based Carrier Screening Work Group Final Report (PDF - 229 KB)
Meredith Weaver, PhD, ScM, CGC


Day 2 Presentations

Implementation of Newborn Screening for Severe Combined Immune Deficiency (PDF - 5.2 MB)
Amy Brower, PhD

Critical Congenital Heart Disease Newborn Screening National Implementation and Data Reporting (PDF - 348 KB)
Marci Sontag, PhD

Genomic Sequencing and Newborn Screening Disorders (PDF - 776 KB)
Tiina Urv, PhD

Duchenne Muscular Dystrophy: Path to Newborn Screening (PDF - 2.9 MB)
Jerry Mendell, MD

Laboratory Standards and Procedures Subcommittee Report (PDF - 612 KB)
Carla Cuthbert, PhD, FACMG, FCCMG

Education and Training Subcommittee Report (PDF - 174 KB)
Don Bailey, PhD, MEd

Follow-up and Treatment Subcommittee Report (PDF - 218 KB)
Carol Greene, MD
Chris Kus, MD, MPH


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