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

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Ratna Dua Puri1, Ashwin Dalal2, Amita Moirangthem3

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi. Correspondence to: Dr Ratna Dua Puri, Professor, Ganga Ram Institute of Postgraduate Medical Education and Research, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110 060. ratnadpuri@gmail.com.

Indian Pediatrics
|February 2, 2022
PubMed

Insights

The Indian Undiagnosed Diseases Program aids rare pediatric disease patients who lack diagnoses from standard genomic tests. This multicenter initiative uses advanced bioinformatics and phenotype data for precise diagnosis and management.

Area of Science:

  • Genomic medicine
  • Rare disease diagnostics
  • Pediatric sub-specialties

Background:

  • Genomics is crucial for diagnosing pediatric diseases, yet many patients remain undiagnosed.
  • Current genomic tests fail to provide definitive diagnoses for a significant number of rare disease cases.

Purpose of the Study:

  • To establish a multicenter program in India addressing the unmet needs of undiagnosed rare disease patients.
  • To improve diagnostic yield for patients with complex genetic disorders.

Main Methods:

  • Collaborative, multispecialty approach integrating detailed phenotyping.
  • Tailored diagnostic methods and in-house bioinformatics pipelines for interrogating genomic data.
  • Utilizing patient-specific phenotypes to build diagnostic algorithms.

Main Results:

  • The program aims to provide definitive diagnoses for previously undiagnosed patients.
  • Enhanced diagnostic capabilities through advanced genomic data analysis.
  • Facilitating appropriate management in the era of precision medicine.

Conclusions:

  • The Indian Undiagnosed Diseases Program represents a significant step in diagnosing rare pediatric diseases.
  • This initiative fosters awareness and addresses the needs of undiagnosed patient cohorts.
  • It paves the way for improved precision medicine approaches in India.

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