April 23-24, 2019 Meeting



Tuesday, April 23, 2019

Opening Remarks and Committee Correspondence (PDF - 395 KB)
Joseph Bocchini, MD
Committee Chair

New Disorders Readiness Tool (PDF - 1 MB)
Yvonne Kellar-Guenther, PhD
Senior Research Scientist Center for Public Health Innovation

RUSP Condition Nomination and Evidence Review Process: Draft Approach and Timeline (PDF - 44 KB)
Joseph Bocchini, MD
Committee Chair

Evidence Review Process (PDF - 310 KB)
Cynthia Powell, MD, MS, FACMG, FAAP
Incoming Committee Chair

Alex R. Kemper, MD, MPH, MS
Lead, Evidence-based Reviews

Wednesday, April 24, 2019

Newborn Screening Pilot Studies (PDF - 960 KB)
Michael S. Watson, PhD, FACMG
Executive Director, American College of Medical Genetics and Genomics

Ad-Hoc Workgroup – Interpreting NBS Results (PDF - 52 KB)
Mei Baker, MD
Committee Member

Cystic Fibrosis Registry (PDF - 1 MB)
Bruce Marshall, MD
Senior Vice President of Clinical Affairs Cystic Fibrosis Foundation

Primary Immune Deficiency Treatment Consortium (PIDTC): Severe Combined Immunodeficiencies (SCID) Data Collection (PDF - 1 MB)
Jennifer Puck, MD
Principle Investigator, PIDTC
UCSF Department of Pediatrics
Allergy, Immunology, and Blood and Marrow Transplantation Division

Follow Up and Treatment Workgroup Update (PDF - 126 KB)
Christopher Kus, MD, MPH
Co-Chair, Follow Up and Treatment Workgroup

Education and Training Workgroup Update (PDF - 979 KB)
Beth Tarini, MD
Committee Member
Chair, Education and Training Workgroup

Laboratory Standards and Procedures Workgroup Update (PDF - 1013 KB)
Kellie Kelm, PhD
Ex-Officio Committee Member - Food and Drug Administration
Chair, Laboratory Standards and Procedures Workgroup

On the Horizon (PDF - 1 MB)
Cynthia Powell, MD
Incoming Committee Chair

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