In 7 years, NIH’s Undiagnosed Diseases Program saw 863 individuals, undiagnosed after thorough evaluation elsewhere.
After record review, a one-week hospitalization included multiple consultations, targeted tests, and DNA sequencing.
9 vignettes with 20 patients illustrate successful diagnoses including arterial calcification due to deficiency of CD73.
The vignettes show relevance to common disorders, newly recognized disease mechanisms and the future of precision medicine.