Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but collectively they are a significant cause of morbidity and mortality. Till date, collectively there are more than 9,000 rare diseases documented, which impose a devastating impact on patients, their families, and the healthcare system, including enormous societal burden. Obtaining a conclusive diagnosis for a patient with a rare genetic disease can be long and gruelling. For some patients it takes months or years to receive a definite diagnosis, and around 50% of the patients remain undiagnosed even with expert clinical and advanced high-end laboratory investigations. Owing to the large population and practice of consanguinity the Indian population is a pool of indigenous variants and unreported phenotypes or diseases. A mission program on pediatric rare diseases is an unparalleled initiative to study unique clinical conditions via the use of latest state-of-art technologies and with the combination of a mulit-omics approach. Our initiative will not only provide diagnosis to patients with rare disease but also build a platform for translational research for rare disease screening, management, and treatment.

罕见遗传病本身很罕见，患病率为 25,000 分之一，但总的来说，它们是发病和死亡的重要原因。迄今为止，共有超过 9,000 种罕见疾病被记录在案，这些疾病给患者、其家庭和医疗保健系统带来了毁灭性影响，包括巨大的社会负担。对患有罕见遗传病的患者获得确凿的诊断可能是漫长而艰巨的。对于一些患者来说，需要数月或数年才能得到明确的诊断，而且即使经过专家临床和先进的高端实验室检查，仍有约 50% 的患者仍未确诊。由于人口众多和近亲结婚习俗，印度人口中存在着大量本土变异和未报告的表型或疾病。儿科罕见病任务计划是一项无与伦比的举措，旨在通过使用最新的最先进技术并结合多组学方法来研究独特的临床状况。我们的举措不仅将为罕见病患者提供诊断，还将为罕见病筛查、管理和治疗的转化研究搭建平台。