ELSIcon2022 Panel: Rare Disease, Equity and Justice: Intersecting Disparities Across the Translational Spectrum

ELSIcon2022 • Panel 9 • June 1, 2022

Holly Tabor, Meghan Halley, Colin Halverson, Aaron Goldenberg

The history of genetics is rooted in the characterization and etiology of rare inherited diseases. Rare conditions such as PKU, Down's Syndrome, Huntington's Disease, Cystic Fibrosis and Sickle Cell Disease have legacies of successful gene discovery, screening and testing. However, these legacies are intertwined with the failure to develop successful therapies or mitigating treatments for many rare genetic conditions, or to address the daily challenges of these patients, including access to testing, research, drugs, medical and care coordination, and services. While the explosion of genomic research on rare diseases over the last decade has led to many well-publicized successes, it has failed to address, and in some cases exacerbated, many of challenges, disparities and stigmas faced by patients and families with these conditions. This interdisciplinary panel will explore these disparities across the translational spectrum, across rare diseases, and across intersecting identities influencing equitable realization of benefit for these patients and families. The speakers will also address gaps in research and potential solutions to providing a more equitable and just approach to genetic research, medicine, and policy for rare disease