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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.
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.
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.
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.
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).
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.
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
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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