- Agenda (PDF - 239 KB)
- Meeting Minutes (PDF - 342 KB)
Webcast
Transcripts
- May 12, 2022 Transcript (PDF - 760 KB)
- May 13, 2022 Transcript (PDF - 516 KB)
Presentations
Day One
- Panel: Updates on Homocystinuria Newborn Screening Status
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Marzia Pasquali, Ph.D., F.A.C.M.G. (PDF - 928 KB)
Professor of Pathology, University of Utah School of Medicine
Section Chief & Medical Director, Biochemical Genetics, ARUP LaboratoriesDietrich Matern, M.D., Ph.D., F.A.C.M.G. (PDF - 1 MB)
Professor of Laboratory Medicine,
Medical Genetics, and Pediatrics
Co-Director, Biochemical Genetics Laboratory
Mayo Clinic College of MedicineKostas Petritis, Ph.D. (PDF - 1 MB)
Laboratory Chief, Biochemical Mass Spectrometry Laboratory, Newborn Screening and Molecular Biology Branch
Centers for Disease Control and Prevention - Newborn Screening for Guanidinoacetate Methyltransferase (GAMT) Deficiency: A Systematic Review of the Evidence (PDF - 1 MB)
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Alex R. Kemper, M.D., M.P.H., M.S.
Lead, Evidence-Based Review GroupJelili Ojodu, M.P.H.
Member, Evidence-Based Review GroupLisa A. Prosser, Ph.D.
Member, Evidence-Based Review Group - Committee Report: Newborn Screening for GAMT Deficiency (PDF - 1 MB)
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Jane M. DeLuca, Ph.D., R.N., C.P.N.P.
Committee MemberShawn E. McCandless, M.D.
Committee Member
Day Two
- Krabbe Disease Nomination Summary (PDF - 1 MB)
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Cynthia M. Powell, M.D., M.S., F.A.C.M.G., F.A.A.P.
Committee Chair - Updates on Newborn Screening Family Education Program (PDF - 4 MB)
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Natasha Bonhomme
Founder, Expecting Health
Chief Strategy Officer, Genetic AllianceMarianna Raia, M.S., C.G.C.
Associate Director of Programs Expecting Health
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