Indian Undiagnosed Diseases Program (I-UDP) – The Unmet Need
Indian Pediatr
;
2022 Mar; 59(3): 198-200
Artículo
| IMSEAR
| ID: sea-225314
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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Revista:
Indian Pediatr
Año:
2022
Tipo del documento:
Artículo
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