We always work tirelessly to advance research that saves lives and dramatically enhances the quality of life for people living with Marfan syndrome and related disorders. The research that we’ve supported has helped reduce life-threatening problems from these conditions, identified treatments that have improved the quality of life, and helped people to live a long life with Marfan syndrome and related disorders. We continue to support this research because we know there are still people struggling on their medical journey.
In addition, the research we’ve championed has identified new disorders related to Marfan syndrome, which not only allows for better, more specific diagnoses, but also helps to pinpoint more effective treatments for Marfan syndrome and the related disorders.
To expand the impact of our efforts, we push the government to fund the research that will improve and save lives. Further, we facilitate the sharing of knowledge about Marfan syndrome and related disorders through conferences, symposia, and partnerships with governmental agencies and other health organizations. We continue to move forward research for both Marfan syndrome and related disorders because advances in fighting Marfan syndrome helps us take steps toward victory in related disorders—and vice versa.
In 2016, our goal is to continue our five-year research plan for the Marfan syndrome and related disorders community. This five-year plan:
- Allows the Foundation to help offset cuts in government research funding by supporting seven new grants for a total of $725,000.
- Allows cultivation of a pipeline of committed Marfan and related disorders researchers, which includes fellows, early investigators and faculty investigators.
- Funds more research that can improve quality of life. In addition to heart-related studies, we are expanding research into quality of life issues, such as pain management, pregnancy, and glaucoma. This year, we are funding a proposal that will identify fibrillin-1 (FBN-1) and fibrillin-2 (FBN-2) rare genetic variants that play an important role in severe isolated scoliosis and whether or not the transforming growth factor-b pathway is involved in scoliosis development.
- Explores the durability of aortic valve-sparing surgery. After providing more than $1.1 million to a critically important study on the short-term durability of aortic valve-sparing surgery, we are now also exploring the long-term durability of this valve-sparing procedure by providing funding for an additional 10-year period.
- Maintains vital support and education efforts. To make sure research advances reach our community as quickly and effectively as possible, we must maintain and strengthen efforts such as our help center, translation services, community events and outreach, and social media efforts.