September 2018

Featured: New PhenX Steering Committee Members

Marsha J. Treadwell, PhD

Dr. Treadwell is a clinical scientist and health services researcher at the University of California San Francisco (UCSF) Benioff Children’s Hospital Oakland, Department of Hematology/Oncology, and the Northern California Comprehensive Sickle Cell Center. She is an adjunct professor in the Department of Pediatrics, School of Medicine at UCSF. She is principal investigator and director for the Sickle Cell Care Coordination Initiative funded by the National Heart, Lung and Blood Institute to use implementation science to improve care of adolescents and adults with sickle cell disease in five counties in Northern California. She is also co-principal investigator and regional director for the Pacific Sickle Cell Regional Collaborative, funded by the Health Resources and Services Administration, which seeks to improve access to knowledgeable care for individuals with sickle cell disease living in 13 Western states. Dr. Treadwell’s research integrates physical, behavioral and psychological processes, allowing for the identification of risk and resiliency factors and the development of more effective interventions for vulnerable populations in both high and low resource settings. Dr. Treadwell has expertise with measurement development, community engagement, conducting health care quality improvement projects, evaluating programs and assessing the health related quality of life for individuals and communities. Dr. Treadwell has participated in and led a number of clinical and health services research projects, including as co-investigator on a Human Heredity and Health in Africa (H3Africa) grant, funded by the National Human Genome Research Institute. Dr. Treadwell was a member of the team that developed the Adult Sickle Cell Quality of Life Measurement Information System (ASCQ-Me®), a patient-reported outcome measurement system developed and validated to provide methods to evaluate and monitor the physical, mental, and social well-being of adults with sickle cell disease. Dr. Treadwell serves on the Steering Committee for PhenX and is a member of the Sickle In Africa Consortium Independent Advisory Committee. Dr. Treadwell received her PhD in clinical child psychology from the University of Washington, Seattle, completed a fellowship in pediatric psychology at Children’s Hospital Oakland and completed advanced training in clinical research at the UCSF.

Marylyn D. Ritchie, PhD

Dr. Ritchie is a faculty pending in genetics, director of the Center for Translational Bioinformatics, and associate director for bioinformatics in the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine. She is also associate director for the Penn Center for Precision Medicine. A statistical and computational geneticist with a focus on understanding genetic architecture of complex human disease, she has expertise in developing novel bioinformatics tools for complex analysis of big data in genetics, genomics, and clinical databases, particularly in the area of pharmacogenomics. Some of her methods include Multifactor Dimensionality Reduction (MDR), the Analysis Tool for Heritable and Environmental Network Associations (ATHENA), and the Biosoftware suite for annotating/ filtering variants and genomic regions as well as building models of biological relevance for gene-gene interactions and rare-variant burden/dispersion tests. Dr. Ritchie has more than 15 years of experience in the analysis of complex data and has authored more than 250 publications. She has received several awards and honors, including selection as a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow in 2010, a KAVLI Frontiers of Science fellow by the National Academy of Science from 2011 to 2014, and she was named one of the most highly cited researchers in her field by Thomas Reuters in 2014. Dr. Ritchie has extensive experience in all aspects of genetic epidemiology and translational bioinformatics in human genomics. She also has extensive expertise in dealing with big data and complex analysis including genome-wide association studies (GWAS), next-generation sequencing, data integration of meta-dimensional omics data, Phenome-wide Association Studies (PheWAS), and development of data visualization approaches. Dr. Ritchie received her PhD in statistical genetics and master of science in applied statistics from Vanderbilt University, and her bachelor of science in biology from the University of Pittsburgh, Johnstown.

Research Team Members

RTI International

• Carol M. Hamilton, PhD, Principal Investigator
• Tabitha Hendershot, Co-Investigator
• Amanda Riley, PMP, MBA, Project Manager
• Wayne Huggins, PhD, Co-Investigator
• Deborah Maiese, MPA, Consensus Coordinator
• Lisa Kilpatrick, MS, Investigator
• Helen Pan, PhD, Navigation Design Lead
• Stephen Hwang, MS, Toolkit Lead
• Michelle Krzyzanowski, PhD, Investigator
• Pat West, Communications Lead

NHGRI

• Erin Ramos, PhD, MPH, Project Scientist
• Natalie Pino, Scientific Program Analyst

National Heart, Lung and Blood Institute

• Ellen Werner, PhD, Project Scientist
• Donna DiMichele, MD, Project Scientist

National Institute on Minority Health and Health Disparities

• Nancy Breen, PhD, Project Scientist
• Xinzhi Zhang, MD, PhD, Project Scientist
• Nishadi Rajapakse, PhD, Project Scientist