A way forward for diagnosis of patients with extremely rare genetic mutations
Single-gene mutations resulting in diseases with a prevalence of 1–30 patients with the same mutation worldwide are defined as nano-rare. Most nano-rare mutations occur de novo, and therefore patients are dispersed around the world, which creates unique challenges in diagnosis, identification and treatment of this virtually unserved patient population.
Recent progress reported by the Undiagnosed Disease Network and the growing number of personalized medicine centers in tertiary care centers has begun to identify more patients with nano-rare mutations. Despite increased identification, the vast majority of patients with nano-rare mutations experience disease progression and succumb to their diseases without achieving a diagnosis.
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