AIIMS researchers pioneer breakthrough diagnostic tool for rare genetic disorders

Researchers at the AIIMS-Delhi have developed a powerful new method to diagnose Primary Ciliary Dyskinesia, or PCD, a rare and often misdiagnosed genetic disorder affecting the respiratory system. The innovative technique, built around transmission electron microscopy, or TEM, stands to revolutionise the way ciliary disorders are detected and understood.

The breakthrough, led by Dr Subhash Chandra Yadav, Electron Microscope Facility, Department of Anatomy, and Professor Kana Ram Jat, Department of Paediatrics, was published recently in the journal Microscopy and Microanalysis (University of Oxford).

Published under the title 'An Innovative TEM-Based Ultrastructural Imaging Methodology for the Diagnosis of Respiratory Ciliary Disorders,' the study detailed the method that improves diagnostic accuracy dramatically by identifying structural defects in motile cilia in nearly 70 per cent of suspected cases -- an achievement unmatched even by cutting-edge whole-genome sequencing.

The method was used on 200 patients with suspected ciliary disorders, and confirmed diagnoses in 135 cases.

The scope of the technique extends far beyond PCD, researchers claimed.

It can accurately detect a range of rare ciliary disorders related conditions, including respiratory anomalies, renal cystic disease, blindness, neural tube defects, intellectual disability, skeletal abnormalities (such as polydactyly and abnormally short limbs), ectodermal defects, situs inversus (a condition where internal organs are mirrored), and infertility.

What sets this methodology apart is its comprehensive and refined workflow, researchers said.

From meticulous sample collection and fixation to ultra-thin sectioning and advanced TEM imaging, every step is optimised to enhance the visibility of tiny defects - boosting detection capability by nearly 640 times compared to conventional methods, they said.

Medical experts hail this innovation as a game-changer in genetic diagnostics.

It promises faster and more accurate diagnoses and lays the groundwork for tailored therapies, improved patient care, and deeper insights into the mechanisms of ciliary disorders, said one of the authors.