Researchers at AIIMS Delhi have introduced a pioneering diagnostic method in India for Primary Ciliary Dyskinesia (PCD), a rare and often misdiagnosed genetic disease affecting the respiratory system. This condition, which shortens lifespan, results from malfunctioning cilia in the airways and occurs in about one in 20,000 births.
This state-of-the-art approach, based on transmission electron microscopy (TEM), aims to improve the detection and comprehension of ciliary structural anomalies, potentially transforming current diagnostic practices.
Dr. Subhash Chandra Yadav from the Electron Microscope Facility, Department of Anatomy at AIIMS, remarked, “We have been applying this technique to suspected patients over the past year, and the outcomes have been extremely promising.”
The research, conducted by Dr. Yadav along with Prof. Kana Ram Jat and Dr. Shikha Chaudhary from the Department of Paediatrics, has been published in the journal Microscopy and Microanalysis (published by Oxford University), under the title “An Innovative TEM-Based Ultrastructural Imaging Methodology for the Diagnosis of Respiratory Ciliary Disorders.”
This innovative method significantly increases diagnostic accuracy, enabling the identification of structural defects in motile cilia in nearly 70% of suspected cases—outperforming even advanced whole-genome sequencing techniques.
Dr. Yadav shared that the technique was validated on 200 patients with suspected ciliary disorders, successfully confirming diagnoses in 135 individuals.
He also highlighted that this technology’s potential extends beyond PCD, as it can detect a broad range of rare conditions linked to ciliary dysfunction. These include respiratory issues, kidney cystic diseases, blindness, neural tube defects, intellectual disabilities, skeletal abnormalities such as extra fingers or toes and shortened limbs, ectodermal defects, situs inversus (a condition where internal organs are mirrored), and infertility.
What sets this methodology apart is its detailed, carefully refined process. From accurate sample collection and fixation to ultra-thin sectioning and high-resolution TEM imaging, each step is designed to improve the visibility of defects. Impressively, this method enhances detection sensitivity by approximately 640 times compared to conventional techniques, according to Dr. Yadav.
This breakthrough offers the promise of quicker, more precise diagnoses, facilitating personalized treatment plans, better patient care, and a deeper understanding of the mechanisms behind ciliary disorders.
