Agenda (PDF - 240 KB)
Meeting Minutes - Pending
Webcast
- May 12, 2022 - Pending
- May 13, 2022 - Pending
Transcripts
- May 12, 2022 Transcript (PDF - 761 KB)
- May 13, 2022 Transcript (PDF - 516 KB)
Presentations
Day One
Panel: Updates on Homocystinuria Newborn Screening Status
Marzia Pasquali, Ph.D., F.A.C.M.G. (PDF - 929 KB)
Professor of Pathology, University of Utah School of Medicine
Section Chief & Medical Director, Biochemical Genetics, ARUP Laboratories
Dietrich Matern, M.D., Ph.D., F.A.C.M.G. (PDF - 1.99 MB)
Professor of Laboratory Medicine,
Medical Genetics, and Pediatrics
Co-Director, Biochemical Genetics Laboratory
Mayo Clinic College of Medicine
Kostas Petritis, Ph.D. (PDF - 1.35 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 - 1.29 MB)
Alex R. Kemper, M.D., M.P.H., M.S.
Lead, Evidence-Based Review Group
Jelili Ojodu, M.P.H.
Member, Evidence-Based Review Group
Lisa A. Prosser, Ph.D.
Member, Evidence-Based Review Group
Committee Report: Newborn Screening for GAMT Deficiency (PDF - 1.44 MB)
Jane M. DeLuca, Ph.D., R.N., C.P.N.P.
Committee Member
Shawn E. McCandless, M.D.
Committee Member
Day Two
Krabbe Disease Nomination Summary (PDF - 1.4 MB)
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 - 4.23 MB)
Natasha Bonhomme
Founder, Expecting Health
Chief Strategy Officer, Genetic Alliance
Marianna Raia, M.S., C.G.C.
Associate Director of Programs Expecting Health
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