Speakers will discuss current topics related to newborn screening, including a case study of collaboration among patient advocates, clinicians and industry that resulted in a rare disease being added to the Recommended Uniform Screening Panel.
As the pace of scientific advancement quickens, the rare community will need to address complex ethical issues related to genetic testing, genetic modification, equity in access and more. Thought leaders from patient advocacy, government, industry and academia will share their perspectives.
Gene therapies and other innovative treatments are on the horizon for many rare diseases, but will health systems and professionals across the nation be prepared to deliver these new therapies to patients? This panel will discuss how to bridge the gap between medical innovation and community healthcare.
Inequities in research representation have become increasingly clear over the past few years. In this session, researchers, government partners and patient advocates will describe current initiatives to address this challenge and to ensure diverse and equitable representation in rare disease research.
Advocates and thought leaders will discuss current international efforts to advance rare disease research and address global inequities in access to diagnosis, medicines and care.