Rare diseases, although individually rare, collectively affect millions worldwide. These conditions, often genetic in nature, pose unique challenges due to their limited awareness, diagnosis difficulties, and lack of treatment options. One of the defining features of rare diseases is their low prevalence, typically affecting fewer than 1 in 2,000 people. Despite this, there are over 7,000 known rare diseases, with more being discovered as medical research advances. Their rarity often leads to delayed or misdiagnoses, exacerbating patients’ suffering. These conditions vary widely in their manifestations and severity, encompassing disorders like cystic fibrosis, Huntington’s disease, and muscular dystrophy. While some rare diseases may cause mild symptoms, others can be debilitating or life-threatening, significantly impacting patients’ quality of life.
