Agenda (PDF - 190 KB)
Meeting Minutes (PDF - 476 KB)
Webcast
Transcripts
- November 9, 2021 (PDF - 674 KB)
- November 10, 2021 (PDF - 641 KB)
Presentations
Day 1
Mucopolysaccharidosis Type II Evidence-Based Review - Phase 2 Update (PDF - 2 MB)
Alex R. Kemper, M.D., M.P.H., M.S.
Lead, Evidence-Based Review Group
Lisa A. Prosser, Ph.D.
Member, Evidence-Based Review Group
Overview of Immediately Actionable Committee Process Updates (PDF - 1 MB)
Cynthia M. Powell, M.D., M.S., F.A.C.M.G., F.A.A.P.
Committee Chair
Addendum: Summary of Condition Nomination Form Updates Presented on November 10, 2021 (PDF - 397 KB)
Cynthia M. Powell, M.D., M.S., F.A.C.M.G., F.A.A.P.
Committee Chair
Committee Process Updates: Overview of Potential Next Steps (PDF - 176 KB)
Cynthia M. Powell, M.D., M.S., F.A.C.M.G., F.A.A.P.
Committee Chair
HRSA Newborn Screening Portfolio Evaluation: Current and Future Needs of the Newborn Screening System (PDF - 1004 KB)
Melissa Raspa, Ph.D.
Senior Scientist and Director Genomics, Ethics and Translational Research Program
RTI International
Day 2
Guanidinoacetate Methyltransferase (GAMT) Evidence-Based Review – Phase 1 Update (PDF - 873 KB)
Alex R. Kemper, M.D., M.P.H., M.S.
Lead, Evidence-Based Reviews
Education and Training Workgroup Update (PDF - 186 KB)
Jane M. DeLuca, Ph.D., R.N., C.P.N.P.
Committee Member
Chair, Education and Training Workgroup
Follow-up and Treatment Workgroup Update (PDF - 150 KB)
Jeffrey P. Brosco, M.D., Ph.D.
Committee Member
Chair, Follow-up and Treatment Workgroup
Laboratory Standards and Procedures Workgroup Update (PDF - 136 KB)
Kellie B. Kelm, Ph.D.
Ex-Officio Committee Member - Food and Drug Administration
Chair, Laboratory Standards and Procedures Workgroup
Panel: Newborn Screening Pilot Programs: ScreenPlus (New York), Early Check (North Carolina)
Melissa Wasserstein, M.D. (PDF - 1 MB)
Chief, Division of Pediatric Genetic Medicine
Professor of Pediatrics and Genetics
The Children’s Hospital at Montefiore
The University Hospital for Albert Einstein College of Medicine
Don Bailey, Ph.D. (PDF - 4 MB)
Distinguished Fellow
Genomics, Bioinformatics and Translational Research Center
RTI International
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