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

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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.

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Funding

Indian Council of Medical Research grant (33/9/2019-TF-Rare/BMS).

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Authors and Affiliations

  1. Ganga Ram Institute of Postgraduate Medical Education and Research, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, 110 060

    Ratna Dua Puri

  2. Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India

    Ashwin Dalal

  3. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

    Amita Moirangthem

Authors
  1. Ratna Dua Puri
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  2. Ashwin Dalal
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  3. Amita Moirangthem
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Corresponding author

Correspondence to Ratna Dua Puri.

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All authors were involved in the preparation of the manuscript.

Competing interests

All authors are working at participating institutions in the program.

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Puri, R.D., Dalal, A. & Moirangthem, A. Indian Undiagnosed Diseases Program (I-UDP) — The Unmet Need. Indian Pediatr 59, 198–200 (2022). https://doi.org/10.1007/s13312-022-2464-y

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  • DOI: https://doi.org/10.1007/s13312-022-2464-y

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