AIIMS Develops India’s First High-Precision TEM Diagnostic Method for Primary Ciliary Dyskinesia


Introduction: A Breakthrough in Rare Disease Diagnostics

In a significant leap for India’s healthcare and diagnostic capabilities, scientists from the All India Institute of Medical Sciences (AIIMS), New Delhi, have developed a first-of-its-kind diagnostic method for identifying Primary Ciliary Dyskinesia (PCD) — a rare genetic condition that affects the respiratory system. This new method utilizes Transmission Electron Microscopy (TEM) to offer diagnostic precision 640 times greater than conventional techniques.

What is Primary Ciliary Dyskinesia?

Primary Ciliary Dyskinesia (PCD) is a rare and underdiagnosed genetic disorder that impairs the structure and function of motile cilia — hair-like structures that line the respiratory tract. These cilia are crucial for clearing mucus and pathogens. Dysfunction leads to chronic respiratory infections, bronchiectasis, sinusitis, and in some cases, infertility and situs inversus.

India’s First TEM-Based PCD Diagnostic Protocol

According to Dr. Subhash Chandra Yadav, from the Electron Microscope Facility, Department of Anatomy, AIIMS, this is the only diagnostic methodology in India based on TEM for ciliary disorders.

“This type of diagnosis is the first of its kind in India, and no other hospital or research lab in the country currently provides such a diagnosis based on electron microscopy,” said Dr. Yadav.

The method was developed in collaboration with Prof. Kana Ram Jat from the Department of Paediatrics and has received international recognition, with findings published in the Microscopy and Microanalysis journal from the University of Oxford.


Clinical Validation and Diagnostic Performance

The AIIMS-developed methodology has been validated in a clinical cohort of 200 patients with suspected ciliary disorders. The findings:

  • 135 out of 200 patients were confirmed to have structural abnormalities linked to PCD and related disorders.

  • The diagnostic accuracy surpassed even whole genome sequencing, especially in identifying structural ciliary defects.

This methodology achieved success where standard tests and genome sequencing failed, making it a superior front-line diagnostic tool for suspected ciliary dysfunction.

Broader Scope Beyond PCD

This technique does not just diagnose PCD. It also enables detection of multiple rare genetic conditions, including:

  • Respiratory anomalies

  • Renal cystic diseases

  • Neural tube defects

  • Ectodermal abnormalities

  • Polydactyly and skeletal abnormalities

  • Blindness and intellectual disabilities

  • Situs inversus and infertility

Its ability to detect these conditions makes it a multi-utility diagnostic tool for a wide range of ciliopathies (diseases caused by defects in cilia).

What Makes the AIIMS TEM Methodology Unique?

The diagnostic protocol combines advanced TEM imaging with meticulous sample preparation, including:

  • Careful sample collection and fixation

  • Ultrathin sectioning of tissues

  • Advanced electron microscopy to detect minute ultrastructural defects

This workflow boosts diagnostic visibility by up to 640 times compared to conventional imaging — a game-changer in identifying micro-defects that standard methods miss.

Implications for India’s Healthcare System

This innovation positions AIIMS Delhi as a leader in rare disease diagnostics in India and potentially across South Asia. Experts believe this technique could:

  • Enable earlier and more accurate diagnoses

  • Support the development of personalized treatment plans

  • Minimize misdiagnosis and reduce diagnostic delays

  • Improve patient outcomes and quality of life

  • Contribute to global research on genetic and ciliary disorders

Conclusion: A Step Forward in Personalized Medicine

The development of this TEM-based method for PCD diagnosis marks a milestone in India's medical research landscape. It holds the potential to transform how rare genetic and respiratory disorders are diagnosed and managed in India, particularly in settings with limited access to genomic technologies.

This achievement is not just a scientific milestone—it is a hopeful stride for thousands of families battling misdiagnosed or undiagnosed rare conditions.

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Location: Pune, Maharashtra, India

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