Despite legislative attention from Congress in the 1980s, diagnostic research into rare diseases is not lucrative enough to garner sufficient private funding. 

The UDN seeks to advance diagnostic science and to facilitate accurate diagnoses of individual patient-participants’ “medical mysteries.”

Many rare diseases only affect a handful of individuals, with most of those remaining undiagnosed—without a known cause or pathology, despite evaluation by clinicians.

Patients whose conditions are undiagnosed face stress and limited, delayed access to interventions that address their specific needs.

Finding an accurate diagnosis can be a long and complex process.

This response to an article suggests that the authors erred in committing the errors they critique.

Patients with undiagnosed conditions often experience frustration and lose trust in health care.

A national consortium of clinicians and researchers hope to accurately diagnose patients with rare diseases.

UDN research is complex and involves many variables, and some patient-subjects think that having enrolled in a UDN protocol was not worthwhile.

Little guidance exists about best practices for how clinical teams should respond to children’s unmet needs.