During their February 2019 meeting, the PhenX Steering Committee (SC) recognized the need to update several measures in the Demographics domain to include protocols that reflect current research trends. The update, released in the Toolkit on June 4, 2019, added new measures for Gender Identity, Sexual Orientation and Biological Sex Assigned at Birth. All three measurement protocols include items from the December 17, 2018 All of Us Research Program Protocol.
Social Determinants of Health Working Group Underway
Funded by the National Institute on Minority Health and Health Disparities (NIMHD), the Social Determinants of Health (SDOH) Working Group (WG) will recommend measurement protocols for inclusion in the PhenX Toolkit. The SDOH WG is co-chaired by Dr. Barbara Entwisle of the University of North Carolina at Chapel Hill and Dr. Alicia Fernandez of the University of California, San Francisco.
Speech, Language and Hearing Domain Measures Updated
The Speech, Language and Hearing research domain was updated and renamed on June 4, 2019, following review by an Expert Review Panel (ERP) and Steering Committee approval of its recommendations. Dr. Cynthia Morton of Harvard University led the ERP. The ERP extended the scope of the Speech and Hearing domain to include Language and changed the domain name to Speech, Language and Hearing. Dr. Mary Marazita (PhenX Steering Committee) provided guidance to the ERP.
Pediatric Development Working Group Plans Outreach
The Pediatric Development Working Group (WG) is preparing to share its preliminary selections of measurement protocols with the scientific community via an email outreach effort. Feedback on the preliminary selections will be considered during final deliberations. The WG is chaired by Dr. Michelle Bosquet Enlow of Boston Children’s Hospital and Harvard Medical School.
Hemophilia Inhibitor Research Collection Released
The Hemophilia Inhibitor Research Collection, funded by the National Heart, Lung, and Blood Institute (NHLBI), was released in the Toolkit on May 7, 2019.
The collection includes 17 measures and 38 protocols to determine levels of Factor VIII and Factor IX, quantify inhibitors to Factor VIII and Factor IX, measure the biological response to therapeutics, and capture key outcomes. The Hemophilia Inhibitor Research Working Group (WG), cochaired by Dr. Barbara Konkle of Bloodworks Northwest and Dr. Steven Pipe of the University of Michigan, recommended the measures for inclusion in the Toolkit, and the PhenX Steering Committee approved.
PhenX in the Community
Dr. Annemarie Stroustrup of Mt. Sinai Hospital, a member of the PhenX Pediatric Development Working Group, presented “The PhenX Toolkit: Standard Measurement Protocols for Pediatric Development Research,” a poster for the Pediatric Academic Society Meeting, Baltimore, MD, April 27, 2019.
Dr. Carol M. Hamilton and Dr. Stephen Edwards of RTI International presented “Standard Measures and Bioinformatics Tools for Collaborative Research” at BioIT World, Boston, MA, April 17, 2019.
Dr. Erin Ramos of the National Human Genome Research Institute (NHGRI) presented “PhenX Measures for Collaborative Research,” a workshop for H3Africa, January 15, 2019.
Featured: PhenX Hemophilia Inhibitors Research Co-Chairs and Project Scientist
Barbara A. Konkle, MD (Co-Chair)
Dr. Konkle is associate chief scientific officer of Bloodworks Northwest in Seattle and director of its Hemostasis, Platelet Immunology and Genomics Laboratory. She is associate director of the Washington Center for Bleeding Disorders at Bloodworks Northwest and professor of medicine at the University of Washington, Seattle. Dr. Konkle has more than 30 years of experience in research, clinical laboratory testing, and clinical care for patients with inherited bleeding disorders, including hemophilia.
Steven W. Pipe, MD (Co-Chair)
Dr. Pipe is an associate professor of pediatrics and pathology, and the Laurence A. Boxer Research Professor of Pediatrics and Communicable Diseases at the University of Michigan, Ann Arbor. He is the medical director of the Pediatric Hemophilia and Coagulation Disorders Program and medical director of the Special Coagulation Laboratory at the University of Michigan. His clinical interests include bleeding and thrombotic disorders and congenital vascular anomalies. Dr. Pipe also directs a basic research lab investigating coagulation factor VIII and the molecular mechanisms of hemophilia A.
Donna DiMichele, MD (Project Scientist)
Dr. DiMichele has been deputy director of the Division of Blood Diseases and Resources at the National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health (NIH) since 2010. Prior to coming to the NIH, she was professor of pediatrics and public health at the Weill Cornell Medical College of Cornell University, director of the New York Center for Coagulation Disorders, and attending physician at the New York Presbyterian Hospital in New York City.
Featured: Expert Review Panel Lead for Speech, Language and Hearing
Cynthia Morton, PhD
Dr. Morton is distinguished chair in Obstetrics and Gynecology and director of Cytogenetics at Brigham and Women's Hospital, professor of obstetrics, gynecology and reproductive biology, and professor of pathology at Harvard Medical School. Dr. Morton received her Bachelor of Science degree from the College of William and Mary and her doctoral degree in human genetics from the Medical College of Virginia in Richmond. She is certified by the American Board of Medical Genetics in PhD medical genetics, clinical cytogenetics and clinical molecular genetics.
Carol M. Hamilton, PhD
Principal Investigator Tabitha Hendershot
Co-Investigator Amanda Riley, PMP, MBA
Project Manager Wayne Huggins, PhD
Investigator Deborah Maiese, MPA
Consensus Coordinator Lauren Gridley, MS Stephen Hwang, MS Lisa Kilpatrick, MS Michelle Krzyzanowski, PhD Meisha Mandal, PhD Helen Pan, PhD Mike Phillips, MS Pat West
National Human Genome Research Institute
Erin Ramos, PhD, MPH
Project Scientist, Division of Genomic Medicine Natalie Pino Heidi Sofia, PhD, MPH
National Heart, Lung, and Blood Institute
Ellen Werner, PhD
Project Scientist Donna DiMichele, MD
National Institute on Minority Health and Health Disparities
PhenX is funded by the National Institutes of Health (NIH) Genomic Resource Grant (U41HG007050) from the National Human Genome Research Institute (NHGRI) with current or prior funding support from the National Institute on Drug Abuse (NIDA), the Office of Behavioral and Social Sciences Research (OBSSR), the National Institute of Mental Health (NIMH), the National Heart, Lung, and Blood Institute (NHLBI), the National Institute on Minority Health and Health Disparities (NIMHD), and the Tobacco Regulatory Science Program (TRSP).
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