Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India.Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma.In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

中文翻译：

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罕见遗传病的基因组学-来自印度的经验。

印度是异族文化的故乡，也是遗传多样性的大熔炉。人口结构具有多个具有特定婚姻模式的内婚配偶群体，包括广泛流行的近亲婚姻习性，不仅使印度人口与世界其他地区不同，而且为了解遗传疾病提供了独特的优势和利基。几个世纪以来，人口群体的基因隔离已扩大了创始人的影响，导致了隐性等位基因的高流行，这转化为遗传病，包括印度的罕见遗传病。罕见的遗传病正在印度成为公共卫生问题，因为人口众多大约十亿人口的负担，即使是最罕见的罕见疾病，也将带来巨大的疾病负担。已经证明了基于基因组学的方法可以加快罕见遗传病的诊断并减轻社会经济负担。了解罕见疾病的基因组学：印度联盟网络（GUaRDIAN）致力于为印度的罕见病提供基因组解决方案。该联盟旨在在罕见遗传疾病的特定领域中，在医疗保健计划，实施和提供方面建立独特的协作框架。这是一项针对多个人群的罕见疾病的全国性合作研究计划，在70个主要医学/研究中心拥有240多名临床医生/科学家合作者。在GUaRDIAN框架内，临床医生会转诊罕见病患者，生成完整的基因组或外显子组数据集，然后对数据进行计算分析以识别病因致病变异。GUaRDIAN的结果正在通过合适的平台在印度提供低成本诊断分析的平台上，转换为社区服务。除了GUaRDIAN，印度还针对疾病和健康人群进行了一些基因组研究，以解决罕见疾病的困境。总之，罕见疾病在印度造成了巨大的疾病负担。基于基因组的解决方案可以加快罕见病的诊断和管理。我们讨论了像GUaRDIAN这样的合作研究计划如何提供全国范围的框架，以迎合印度的罕见病社区。为了解决这种罕见疾病的困境，印度进行了一些针对疾病和健康人群的基因组研究。总之，罕见疾病在印度造成了巨大的疾病负担。基于基因组的解决方案可以加快罕见病的诊断和管理。我们讨论了像GUaRDIAN这样的合作研究计划如何提供全国范围的框架，以迎合印度的罕见病社区。为了解决这种罕见疾病的困境，印度进行了一些针对疾病和健康人群的基因组研究。总之，罕见疾病在印度造成了巨大的疾病负担。基于基因组的解决方案可以加快罕见病的诊断和管理。我们讨论了诸如GUaRDIAN之类的合作研究计划如何提供全国范围的框架，以迎合印度的罕见病社区。