Paediatric

Overview

The Paediatric Task Team is exploring regulatory and ethical issues concerning paediatric genomic and related clinical data sharing and develops policies, tools, and guidelines to accelerate the sharing of such data around the world. The Task Team’s initial focus is on genomic newborn screening. Activities will include development of a priority list of genes related to treatable or preventable early-onset disease that are appropriate as initial candidates for targeted genomic newborn screening; establishing standards for database creation, maintenance and access for population (normal variation) genomic data obtained by newborn screening; and consideration of the applicability of policies that have been established for retention, release and future use of samples obtained for conventional newborn screening to genomic newborn screening. Subsequent activities will deal with other clinical and research applications of genomic medicine in children.

Leadership

  • Jan M. Friedman
    • Lead, Group
  • Martina Cornel
    • VU University Medical Center
    • Amsterdam, Netherlands
    • Co-Lead, Group

Coordinator

Team

  • Jan M. Friedman , University of British Columbia , Vancouver, Canada
  • Martina Cornel , VU University Medical Center , Amsterdam, Netherlands
  • Khalid Al-Thihli , Sultan Qaboos University , Muscat, Oman
  • Pricila Bernardi , Universidade Federal de Ciências da Saúde de Porto Alegre , Porto Algre, Brazil
  • Pascal Borry , KU-Leuven , Leuven, Belgium
  • Jeffrey R. Botkin , University of Utah , Salt Lake City, United States
  • David Flannery , Newborn Screening Translational Research Network, ACMG , Bethesda, United States
  • Aaron Goldenberg , Case Western Reserve , Cleveland, United States
  • Shinichi Hirose , Fukuoka University , Fukuoka, Japan
  • Anne Junker , BC Children's Hospital , Vancouver, Canada
  • Stephen Kingsmore , Children's Mercy Hospital , Kansas City, United States
  • Nigel Laing , University of Western Australia , Perth, Australia
  • Zhengqing Qui , Peking Union Medical College Hospital , Beijing, China
  • Erick Scott , Icahn Institute for Genomics and Multiscale Biology , New York, United States
  • Karine Sénécal , Centre of Genomics and Policy , Montreal, Canada
  • Lisenka Vissers , University Medical Center Nijmegen , Nijmegen, Netherlands
  • Ambroise Wonkam , University of Cape Town , Cape Town, South Africa