In a significant breakthrough for rare disease diagnostics, researchers at the All India Institute of Medical Sciences (AIIMS), New Delhi, have pioneered a new diagnostic technique for Primary Ciliary Dyskinesia (PCD)—a rare genetic disorder that affects the respiratory system and is often misdiagnosed.
India’s First TEM-Based Diagnosis for PCD
Dr. Subhash Chandra Yadav from the Electron Microscope Facility, Department of Anatomy at AIIMS Delhi, confirmed that this is the first diagnostic method in India using transmission electron microscopy (TEM) for PCD.
“This type of diagnosis is the first of its kind in India. Currently, no other hospital or research lab in the country offers electron microscopy-based diagnostics for PCD,” said Dr. Yadav.
International Recognition and Scientific Validation
As reported by theprint, Dr. Yadav further shared that the method has received international recognition and is now accepted globally as an innovative diagnostic tool for PCD and other ciliary disorders. The research, conducted in collaboration with Prof. Kana Ram Jat from the Department of Paediatrics, was published in the University of Oxford’s journal Microscopy and Microanalysis under the title:
“An Innovative TEM-Based Ultrastructural Imaging Methodology for the Diagnosis of Respiratory Ciliary Disorders.”
Enhanced Diagnostic Accuracy
According to a statement by AIIMS Delhi, the TEM-based approach significantly improves diagnostic accuracy. It identified structural defects in motile cilia in nearly 70% of suspected cases—surpassing even the diagnostic performance of advanced whole-genome sequencing. The researchers validated the method on 200 patients, confirming diagnoses in 135 cases.
Wider Applications Beyond PCD
Beyond diagnosing PCD, the technique has broad applications for other rare ciliary-related disorders, including:
- Respiratory anomalies
- Renal cystic disease
- Blindness
- Neural tube defects
- Intellectual disabilities
- Skeletal abnormalities (e.g., polydactyly, short limbs)
- Ectodermal defects
- Situs inversus (mirror placement of internal organs)
- Infertility
A Refined Workflow with Exceptional Detection Power
What sets this methodology apart is its refined and comprehensive workflow. The team has optimized the process at every step, from sample collection and fixation to ultra-thin sectioning and TEM imaging. This precision boosts the detection capacity by nearly 640 times compared to conventional techniques, dramatically improving visibility of microscopic defects.
A New Era in Genetic Diagnostics
Medical experts have lauded this innovation as a game-changer. It not only ensures faster and more accurate diagnoses but also lays the foundation for personalized treatment, improved patient care, and a deeper understanding of the biological mechanisms behind ciliary disorders.
A Transformative Milestone for India
This pioneering work by AIIMS researchers marks a transformative milestone in India’s diagnostic capabilities. It offers new hope to patients and families grappling with rare genetic diseases, reinforcing India’s position in the global landscape of cutting-edge medical research.