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Bardet Biedl Syndrome Foundation

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

A Rare Disease Registry at Work

The New Yorker has an article about an enterprising young woman who, with the help of friends and relatives at a research university, created a registry for the rare form of cancer that she suffered.

Although the registry only includes 15 patients so far, it has already yielded important clues for diagnosis and treatment. It’s a great example of why the new BBS Registry hosted at the Marshfield Clinic is so very important. The article does a nice job of explaining a value of a rare disease registry.

Do read it.