Human Genetics Patient Stories

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Kallmann Syndrome: Jill’s Story

Jill smiling

When traditional tests were inconclusive, Jill turned to the Roberts Individualized Medical Genetics Center for a diagnosis of Kallmann syndrome. 

Mitochondrial Disease: Juliet's Story

Juliet and her dog

Juliet is the first patient in the world to be diagnosed with a rare form of mitochondrial disease. The breakthrough discovery led to the diagnosis of 80 additional patients worldwide.


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