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Research Domain - Rare Genetic Conditions

Release Date:

April 30, 2015

Scope of Domain:
Scope Elements Final Measures To Toolkit
family history
cardiac and vascular
pulmonary
renal
urogenital/reproductive
endocrine
hematological
metabolic
musculoskeletal
neurologic
ocular
hearing
craniofacial and dental/oro-facial
dermatologic
mutation
Working Group Roster:

WG Members:

Peter Byers, MD, Chair
University of Washington, Seattle
School of Medicine
Seattle, WA
Janine Lewis, MS, CGC
ICF International
Rockville, MD
Joann Bodurtha, MD, MPH
Johns Hopkins University
McKusick-Nathans Institute of Genetic Medicine
Baltimore, MD
Cynthia Powell, MD, MS
University of North Carolina at Chapel Hill
School of Medicine
Chapel Hill, NC
Philip Giampietro, MD, PhD
University of Wisconsin, Madison
School of Medicine and Public Health
Madison, WI
Sarah Soden, MD
Children's Mercy Hospital
Kansas City, MO
Lisa Heral, RN, BA
Parkview Regional Medical Center
Fort Wayne, IN
Rodolfo Valdez, PhD
Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities (NCBDDD)
Atlanta, GA

SC Liaison, WG Manager and WG Supervisor:

Sharon F. Terry, MA, SC Liaison
Genetic Alliance
Washington, DC
Tracey L. Grant, MS, WG Manager
RTI International
Statistics and Epidemiology Division
Research Triangle Park, NC
Michael Phillips, MS, WG Supervisor
RTI International
Research Triangle Park, NC
Protocol Name Status DCW DD DD Mapping