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For many rare genetic diseases, there are support groups and fundraisers and a sense of community for patients and their families, but as NPR notes, some genetic diseases are so rare that it may only affect a handful of people in the world.

"You're the 'other-other' and not just the 'other,'" says Karen Park, whose son has a mutation in his KDM1A gene, a mutation that's only been seen in two other people in the world.

When a condition is that rare, there's often not a lot of information about it, NPR says. It adds that sometimes what data there is can be hidden as a paper awaits publication.

Further, connecting such patients together can be difficult because of patient privacy laws. "We all worry about the correct diagnosis, and therapy, and management of the disease," Baylor College of Medicine's Christian Schaaf says, "but we don't think enough about the isolation these families feel, about the stress and anxiety that comes with these disorders."

To combat that, NPR reports, the University of Washington's Michael Bamshad has developed a not-for-profit website called MyGene2 so families as well as clinicians and researchers can share information about rare genetic diseases. Currently, there are some 130 families registered on the site that are searching for information about mutations in more than 100 genes. Bamshad tells NPR he hopes that it'll expand.

"Our major goal is gene discovery and facilitating clinical diagnosis," he says. "Very quickly, we could identify hundreds of Mendelian conditions and help thousands of families get a diagnosis for rare diseases."

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