May 12-13, 2022 Meeting




Day One

Panel: Updates on Homocystinuria Newborn Screening Status

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 Laboratories

Dietrich 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 Medicine

Kostas 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)

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 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 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 MB)

Natasha Bonhomme
Founder, Expecting Health
Chief Strategy Officer, Genetic Alliance

Marianna Raia, M.S., C.G.C.
Associate Director of Programs Expecting Health

Note: Individuals using assistive technology may not be able to fully access information in some files. For assistance, please email

Date Last Reviewed: