Undiagnosed Diseases Network launches online application portal

The Undiagnosed Diseases Network (UDN), a clinical research initiative of the National Institutes of Health, has opened an online patient application portal called the UDN Gateway. Introduction of this application system sets the stage for the network to advance its core mission: to diagnose patients who suffer from conditions that even skilled physicians have been unable to diagnose despite extensive clinical investigation. These diseases are difficult for doctors to diagnose because they are rarely seen, have not previously been described or are unrecognized forms of more common diseases.

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Solving medical mysteries: The Undiagnosed Disease Network

Solving medical mysteries: The Undiagnosed Disease Network

At first, Corrie and Adam Mendes thought their daughter Emmie had an inner ear problem. She was late with several early milestones, including walking, and when she did walk, she often lost her balance. The family pediatrician sent them to a neurologist, who ordered a brain MRI and diagnosed her with pachygyria, a rare condition in which the brain is smoother than normal, lacking its usual number of folds.

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One of a Kind

What do you do if your child has a condition that is new to science?

Matt Might and Cristina Casanova met in the spring of 2002, as twenty-year-old undergraduates at the Georgia Institute of Technology. Cristina was an industrial-design major with an interest in philosophy; Matt was a shy computer geek obsessed with “Star Trek.” At first, Cristina took no notice of him, but the two soon became friends, and that fall they began dating. Within a year, they were married.

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New 'Undiagnosed Disease' Center in Boston Funded by the NIH

New 'Undiagnosed Disease' Center in Boston Funded by the NIH

Rare and hard-to-diagnose diseases present extremely difficult problems not only for patients and their families, but also for their physicians, who struggle to identify and treat these disorders. Often, patients have persistent symptoms for years without a diagnosis, which can result in treatment delays, repeated diagnostic tests and increased health care spending.

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