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Department of Health and Human Services
Discretionary Advisory Committee on Heritable Disorders in Newborns and Children
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Third Meeting

January 16-17, 2014

Day 1 Presentations

Update from the Sickle Cell Disease and Screening for Trait in Athletes Ad-hoc Workgroup (PPT - 89 KB)
Alexis Thompson, MD

Introduction to Challenges When Conducting Pilot Studies and Possible Solutions (PPT - 167 KB)
Jeff Botkin, MD

Update on the Newborn Screening TA Center – NewSTEPs (PDF - 2.05 MB)
Marci Sontag, PhD
Jelili Ojodu, MPH

X-linked Adrenoleukodystrophy (ALD) – Update from Nomination and Prioritization Workgroup (PDF - 421 KB)
Dietrich Matern, MD

  • Data within this presentation is preliminary and not yet published.  Data may not be used without permission from the presenter.
  • Please note – During the January 2014 meeting, the DACHDNC only recommended a full evidence review of ALD

Day 2 Presentations

Newborn Screening Specimen Transport – Update (PDF - 1.2 MB)
Susan Tanksley, PhD

Mucopolysaccharidosis type 1 (MPS-1) – Update from Condition Review Team (PPT - 791 KB)
Alex Kemper, MD, MPH, MS

Education and Training Subcommittee Report (PPT - 124 KB)
Don Bailey, PhD, MEd
Beth Tarini, MD, MS

Follow-up and Treatment Subcommittee Report (PPT - 78 KB)

Carol Greene, MD
Christopher Kus, MD, MPH

Laboratory Standards and Procedures Subcommittee Report (PPT - 57 KB)

Kellie Kelm, PhD
Susan Tanksley, PhD