Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or ...
A global revolution in genetic sequencing is helping University of Otago scientists solve the mysteries of ultra-rare disorders, for one family at a time. It’s called the diagnostic odyssey: an ...
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Brothers with a rare genetic disorder are running out of time. The FDA is blocking their last hope.
Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.
A decades-old drug once used to treat sleeping sickness is now showing surprising promise against an ultra-rare and life-threatening genetic disorder called Bachmann-Bupp syndrome (BABS). Early ...
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