In a major advancement for rare disease diagnostics, scientists at the AIIMS, New Delhi, have unveiled a groundbreaking technique for diagnosing Primary Ciliary Dyskinesia (PCD) a rare, often overlooked genetic condition that affects the respiratory system. The innovative method relies on transmission electron microscopy (TEM) and is the first of its kind in India.
Dr. Subash Chandra Yadav from the Electron Microscope Facility in AIIMS’ Department of Anatomy confirmed that no other institution in India currently offers a TEM-based diagnostic test for PCD. “This is a pioneering diagnostic method in the country, and we’re the only facility providing such electron microscopy-based evaluation,” he noted.
The technique, developed in collaboration with Prof. Kana Ram Jat from the Department of Paediatrics, has received international recognition. Their research, titled “An Innovative TEM-Based Ultrastructural Imaging Methodology for the Diagnosis of Respiratory Ciliary Disorders,” was published in the esteemed Microscopy and Microanalysis journal by the University of Oxford.
According to AIIMS, the newly developed method greatly enhances the accuracy of PCD diagnosis, successfully identifying structural abnormalities in motile cilia in about 70% of suspected cases a performance that surpasses even advanced whole genome sequencing. The technique was tested on 200 patients with suspected ciliary disorders and provided confirmed diagnoses in 135 cases.
Beyond PCD, the technique can detect a wide spectrum of rare ciliary-related disorders. These include respiratory conditions, renal cystic diseases, congenital blindness, neural tube defects, intellectual disabilities, skeletal deformities (such as polydactyly and short limbs), ectodermal anomalies, situs inversus (a condition where internal organs are mirrored), and infertility.
What makes this method unique is its highly refined process ranging from precise sample collection and fixation to ultra-thin sectioning and advanced TEM imaging. This comprehensive workflow improves the visibility of microscopic defects, increasing diagnostic clarity by nearly 640 times compared to traditional techniques.
Healthcare professionals have hailed this innovation as a revolutionary step forward in genetic diagnostics. It not only enables quicker and more accurate diagnoses but also paves the way for targeted treatments, improved patient outcomes, and a deeper understanding of the biological mechanisms driving ciliary disorders.
This breakthrough represents a significant leap in India’s capabilities for diagnosing rare genetic diseases, offering new hope to patients and their families dealing with these complex conditions.