Agenda (PDF - 237 KB)
Meeting Minutes (PDF - 611 KB)
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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