1. PhenX-Sickle Cell Disease Project at the National Heart, Lung, and Blood Institute/NIH Ellen M. Werner, Ph.D. Program Director Blood Epidemiology and Clinical Therapeutics Branch National Heart, Lung, and Blood Institute January 7, 2015

2. 2 Genesis of PhenX-SCD Project  NHLBI Clinical Practice Recommendations  NHLBI and other HHS op divs have had sought to collaborate  HP2020  Registry and Surveillance in Hemoglobinopathies (RuSH) pilot  HRSA NBS (with NICHD, CDC), SCD and Thalassemia Treatment Demonstration Programs Goal: Establish consensus measures/identify common data elements (CDEs) in SCD  To enable collaborations  For data comparison, validation, replication, harmonization September 2010-Summer 2014 (unfunded) Hemoglobinopathies Uniform Medical Language Ontology (HUMLO) Summer 2014-April 2015 (funded) PhenX-SCD

3. NHLBI Re-organization

4.  Division of Blood Diseases and Resources  Molecular Cellular and Systems Blood Science Branch  Translational Blood Science and Resources Branch  Blood Epidemiology and Clinical Therapeutics Branch  Center for Translation Research and Implementation Science  Health Inequities and Global Health Branch  Implementation Science Branch  Translation Research Branch Re-organization (continued)

5. T3T2 Biomedical Model Biomedical and Socioecological Model Bench Research Fundamental Discovery Science – Animal Studies Bedside 1 st Human Studies Controlled Observations Phase I Clinical Trials Patients Phase II and III Clinical Trials Practices Phase IV Clinical Trials Comparative Effectiveness Research Real World Setting Dissemination and Implementation Research T1 Discovery Science Translation to Humans Translation to Patients Translation to Clinical Practices Translation to Real World Settings T4 Focusing on Clinical and Translational Research Mensah. Global Heart September 2013;8(3): 283-284. Based on and informed by the models of Khoury et al. Genet Med 2007;9:665-74, and the Harvard Catalyst; The Harvard Clinical and Translational Science Center, available at: http://catalyst.harvard.edu/pathfinder/. Accessed August 28, 2013.http://catalyst.harvard.edu/pathfinder/ 5

6. Translational Research – What Is It?  T3 tests WHICH interventions work  T4 tests HOW to deliver them in real world setting