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FBN1 gene, fibrillin 1

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.

Treating Rare Diseases: The Challenge of Access

Although rare by definition, the collective impact of rare diseases is anything but insignificant. In the Asia-Pacific (APAC) region – home to over half of...

StuffThatWorks and The Marfan Foundation to Engage in Pilot Program

joint efforts will form best practices for non-profit health organizations to leverage patient self-reporting with the goal of advancing science, treatment and quality of life.

Looking for Zebras: Medical Mysteries and Transformational Patient Moments

While medicine has become more advanced and specialized, it has also become increasingly fragmented. For people is hard-to-diagnose conditions, that's another obstacle to care.