Puri, Ratna DuaDalal, AshwinMoirangthem, Amita2023-08-252023-08-252022-03Puri Ratna Dua, Dalal Ashwin, Moirangthem Amita. Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need. Indian Pediatrics. 2022 Mar; 59(3): 198-2000079-60610974-7559http://imsear.searo.who.int/handle/123456789/225314Genomics 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.CollaborativeEvaluationGenomicsRare diseaseJournal ArticleIndiaInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New DelhiDiagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, TelanganaDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.