Connective Issues Spring 2024

FOUNDATION PARTICIPATES IN NIH Rare Disease Day

Representatives from The Marfan Foundation attended the National Institutes of Health (NIH) Rare Disease Day 2024 in Bethesda, MD on February 29, 2024. This collaborative and informative event was aimed at addressing challenges and advancements in the diagnosis and treatment of rare diseases. Attendees from across the country included researchers, clinicians, industry representatives, patients, advocacy groups, and policymakers, all united in their commitment to improving the lives of individuals a ff ected by rare conditions. Presentations and discussions focused on the latest research findings, innovative treatments, and emerging technologies that hold promise for rare disease diagnosis and management. Presenters highlighted the importance of patient engagement and interdisciplinary collaboration toward driving progress in rare disease research. Key topics addressed included strategies for extending diagnostic and disease-management outreach to individuals residing in rural communities, leveraging artificial intelligence to uncover potential treatments through drug repurposing, and recent approvals and advancements in gene therapy. There was also an emphasis on the unique challenges faced by individuals living with rare diseases and their families, including access to a ff ordable care, diagnostic delays, and the need for authentic disability representation in media. Overall, the NIH Rare Disease Day 2024 meeting served as a platform for fostering collaboration, sharing knowledge, and renewing commitment to advancing rare disease research and improving patient outcomes.

 Foundation representatives: Josephine Grima, PhD, chief science officer, Lauren May, MPH, director of research, Stacey Watson, director of the Loeys-Dietz Syndrome Foundation

Plan for the Future, Today: New Free Resource

The Foundation aims to empower members of our community to enjoy the best quality of life possible. We hope to help community members gain the additional peace of mind that comes with knowing future plans are set. FreeWill is a free intuitive online tool designed to simplify the estate-planning process and help make informed decisions that reflect an individual’s legacy and values. FreeWill o ff ers a straightforward, cost-free way to ensure your

estate plan is in place, enabling users to: • Clearly outline their future intentions

• Ensure loved ones and the causes important to them, like advancing research and support for people living with genetic aortic and vascular conditions, are well taken care of • Gain the peace of mind that comes with having a secure plan

Learn more or get started with FreeWill at freewill.com/Marfan.

13

Spring 2024