Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need

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dc.contributor.authorPuri, Ratna Duaen_US
dc.contributor.authorDalal, Ashwinen_US
dc.contributor.authorMoirangthem, Amitaen_US
dc.date.accessioned2023-08-25T06:39:29Z
dc.date.available2023-08-25T06:39:29Z
dc.date.issued2022-03
dc.description.abstractGenomics 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.affiliationsInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhien_US
dc.identifier.affiliationsDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telanganaen_US
dc.identifier.affiliationsDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.en_US
dc.identifier.citationPuri Ratna Dua, Dalal Ashwin, Moirangthem Amita. Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need. Indian Pediatrics. 2022 Mar; 59(3): 198-200en_US
dc.identifier.issn0079-6061
dc.identifier.issn0974-7559
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225314
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber3en_US
dc.relation.volume59en_US
dc.source.urihttps://indianpediatrics.net/mar2022/198.pdfen_US
dc.subjectCollaborativeen_US
dc.subjectEvaluationen_US
dc.subjectGenomicsen_US
dc.subjectRare diseaseen_US
dc.titleIndian Undiagnosed Diseases Program (I-UDP) – The Unmet Needen_US
dc.typeJournal Articleen_US
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