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May 11-12, 2017 Meeting

Agenda (PDF - 237 KB)
 

Meeting Minutes (PDF - 611 KB)
 

Webcasts

Transcript (PDF - 791 KB)

Day 1

Opening Remarks and Committee Correspondence - Part 1 (PDF - 40 KB)
Joseph Bocchini, MD
Committee Chair
Louisiana State University

 

An Update on R4S and CLIR (PDF - 2.2 MB)
Piero Rinaldo,
MD, PhD Professor of Laboratory Medicine & Pediatrics
Co-director, Biochemical Genetics Laboratory,
Mayo Clinic

 

NSMBB Programs Updates (PDF - 2 MB)
Carla Cuthbert, PhD, FACMG, FCCMG
Chief, Newborn Screening and Molecular Biology Branch,
National Center for Environmental Health,
Centers for Disease Control and Prevention

 

What Did It Take To Validate SCID and LSDs? (PDF - 1 MB)
Michele Caggana, Sc.D., FACMG
Director, Newborn Screening Program
New York State Department of Health

 

Establishing and Monitoring Cutoffs and Reference Ranges (PDF - 1.1 MB)
Scott Shone, PhD
Research Scientist/Program Manager
New Jersey Department of Health Newborn Screening

 

Examining Cut-offs in Follow-Up Practices (PDF - 294 KB)
Amy Gaviglio, MS, CGC
Follow-Up Supervisor/Genetic Counselor,
Minnesota Department of Health Newborn Screening Program

 

Nomination and Prioritization Workgroup Report: Spinal Muscular Atrophy (SMA) (PDF - 1.1 MB)
Beth Tarini, MD, MS – on behalf of the
Nomination and Prioritization Workgroup
Committee Member
Associate Professor and Division Director
General Pediatrics & Adolescent Medicine
University of Iowa Hospitals & Clinics

 

Medical Foods for Inborn Errors of Metabolism (PDF - 127 KB)
Sue Berry, MD
Director, Division of Genetics and
Metabolism, Department of Pediatrics,
University of Minneapolis

Day 2

Opening Remarks and Committee Correspondence (PDF - 54 KB)
Joseph Bocchini, MD
Committee Chair
Louisiana State University

 

Status of Screening for CCHD in the US (PDF - 2.2 MB)
Careema Yusuf, MPH
Manager, NewSTEPs,
Newborn Screening and Genetics, APHL

 

CCHD Pulse Oximetry Newborn Screening: State Program Perspectives (PDF - 446 KB)
Amy Gaviglio, MS, CGC
Follow-Up Supervisor/Genetic Counselor,
Minnesota Department of Health Newborn Screening Program

 

Newborn CCHD Screening (PDF - 4.7 MB)
Annamarie  Saarinen
Committee Member

 

Condition Review Updates (PDF - 1.1 MB)
Alex R. Kemper, MD, MPH, MS
Professor of Pediatrics, Duke University
Chair, Condition Review Workgroup

 

Education and Training Workgroup (PDF - 466 KB)
Cathy Wicklund, MS, CGC
Northwestern University
Committee Member
Chair, Education and Training Workgroup

 

Laboratory Standards and Procedures Workgroup (PDF - 76 KB)
Kellie Kelm, PhD
Food and Drug Administration
Ex-Officio Committee Member
Chair, Laboratory Standards and Procedures Workgroup

 

Follow-up and Treatment Workgroup Progress Report (PDF - 307 KB)
Jeffrey P. Brosco, MD, PhD
Professor of Clinical Pediatrics
University of Miami School of Medicine
Committee Member
Acting Chair, Follow up and Treatment Workgroup

 

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Date Last Reviewed:  August 2018