Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need
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Date
2022-03
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Pediatrics
Abstract
Genomics is an integral part of many pediatric diseases spanning all sub-specialities. While many genetic disorders are diagnosed with the currently available genomic tests, there still are many patients who do not receive a definitive diagnosis. The Indian Undiagnosed Diseases Program is a multicenter effort to address these challenges and unmet needs of rare disease patients where current available genetic tests have failed to make a diagnosis. It embodies the principles of collaborative effort across multispecialty disciplines, and uses detailed phenotype. Diagnostic methods are tailored to patient specifics and the large genomic data is interrogated with precise, in-house bioinformatics pipelines using patient-specific phenotype to build the diagnostic algorithm. The inception of this research initiative in India is a step towards creating awareness and appreciation of the needs for our undiagnosed cohorts to enable appropriate management in this era of precision medicine.
Description
Keywords
Collaborative, Evaluation, Genomics, Rare disease
Citation
Puri Ratna Dua, Dalal Ashwin, Moirangthem Amita. Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need. Indian Pediatrics. 2022 Mar; 59(3): 198-200