Article Abstract

Chromosomal instability syndromes—the most classical and representative types of rare diseases

Authors: Zhan-He Wu


As defined, rare diseases including rare childhood cancers are any disorder or condition that is life-threatening or chronically debilitating and is statistically rare with an estimated prevalence of 5 in 10,000 people and the rare diseases are about 80% genetic based in their pathological cause. According to the announcement from national organisation for rare diseases (NORD), 1 in 10 Americans live with a rare disease and they are at high level of symptom complexity so they need special diagnostic and therapeutic strategies.