Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need
dc.contributor.author | Puri, Ratna Dua | en_US |
dc.contributor.author | Dalal, Ashwin | en_US |
dc.contributor.author | Moirangthem, Amita | en_US |
dc.date.accessioned | 2023-08-25T06:39:29Z | |
dc.date.available | 2023-08-25T06:39:29Z | |
dc.date.issued | 2022-03 | |
dc.description.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. | en_US |
dc.identifier.affiliations | Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi | en_US |
dc.identifier.affiliations | Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana | en_US |
dc.identifier.affiliations | Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh. | en_US |
dc.identifier.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 | en_US |
dc.identifier.issn | 0079-6061 | |
dc.identifier.issn | 0974-7559 | |
dc.identifier.place | India | en_US |
dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/225314 | |
dc.language | en | en_US |
dc.publisher | Indian Academy of Pediatrics | en_US |
dc.relation.issuenumber | 3 | en_US |
dc.relation.volume | 59 | en_US |
dc.source.uri | https://indianpediatrics.net/mar2022/198.pdf | en_US |
dc.subject | Collaborative | en_US |
dc.subject | Evaluation | en_US |
dc.subject | Genomics | en_US |
dc.subject | Rare disease | en_US |
dc.title | Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need | en_US |
dc.type | Journal Article | en_US |
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