Advisory Committee on Heritable Disorders
in Newborns and Children

Upcoming Meeting
April 23-24, 2019

 

Click here to download the final agenda for the April meeting.

TIME TOPIC PRESENTER
10:00AM – 10:15AM
  • Welcome
  • Roll Call
  • Opening Remarks
  • March 2019 Minutes

 

Joseph Bocchini, MD
Committee Chair
Catharine Riley, PhD, MPH
Designated Federal Official
Health Resources and Services Administration (HRSA)
10:15AM – 11:00AM New Disorders Readiness Tool Yvonne Kellar-Guenther, PhD
Senior Research Scientist
Center for Public Health Innovation
11:00AM – 11:15AM Public Comment
11:15AM – 11:30AM RUSP Condition Nomination and Evidence Review Process: Draft Approach and Timeline Joseph Bocchini, MD
Committee Chair
11:30AM –12:30PM Lunch
12:30PM – 2:15PM Evidence Review Process Cynthia Powell,  MD, MS, FACMG, FAAP
Incoming Committee Chair
Alex R. Kemper, MD, MPH, MS
Lead, Evidence-based Reviews
2:15PM – 3:15PM Acknowledgements for Dr. Bocchini
3:15PM Adjourn* 

*Workgroups meet on Tuesday, April 23, 2019 from 3:30pm –5:00pm at 5600 Fishers Lane, Rockville, MD.

TIME TOPIC PRESENTER
9:30AM  –  9:45AM
  • Welcome
  • Roll Call
Joseph Bocchini, MD
Committee Chair
Catharine Riley, PhD, MPH
Designated Federal Official, HRSA
9:45AM – 10:15AM Newborn Screening Pilot Studies Michael S. Watson, PhD, FACMG
Executive Director, American College of Medical Genetics and Genomics
10:15AM – 10:30AM Ad-Hoc Workgroup – Interpreting NBS Results Mei Baker, MD
Committee Member
10:30AM – 11:00AM Cystic Fibrosis Registry Bruce Marshall, MD
Senior Vice President of Clinical Affairs
Cystic Fibrosis Foundation
11:00AM – 11:30AM Primary Immune Deficiency Treatment Consortium (PIDTC): Severe Combined Immunodeficiencies (SCID) Data Collection Jennifer Puck, MD
Principle Investigator, PIDTC
UCSF Department of Pediatrics
Allergy, Immunology, and Blood and Marrow Transplantation Division
11:30AM– 12:15PM Lunch
12:15PM – 12:30PM Public Comment
12:30PM – 12:45PM Follow Up and Treatment Workgroup Update Christopher Kus, MD, MPH
Co-Chair, Follow Up and Treatment Workgroup
12:45PM – 1:00PM Education and Training Workgroup Update Beth Tarini, MD
Chair, Education and Training Workgroup
1:00PM – 1:15PM Laboratory Standards and Procedures Workgroup Update Kellie Kelm, PhD
Chair, Laboratory Standards and Procedures Workgroup
1:15PM – 1:30PM RUSP Condition Nomination and Evidence Review Process: Follow up Discussion Joseph Bocchini, MD
Committee Chair
1:30PM – 1:55PM On the Horizon Cynthia Powell, MD
Incoming Committee Chair
1:55PM – 2:00PM
  • New Business
  • Passing of the Gavel
Joseph Bocchini, MD
Outgoing Committee ChairCynthia Powell, MD
Incoming Committee Chair
2:00PM Adjourn