In a major medical breakthrough, scientists at AIIMS, New Delhi, have developed a new and highly accurate way to diagnose a rare genetic disease called Primary Ciliary Dyskinesia (PCD). This condition, which mostly affects children, causes serious breathing problems because it damages tiny hair-like structures in the body called cilia. These cilia normally help keep the lungs clean, but in children with PCD, they don’t work properly, leading to repeated lung infections and other health issues.

What makes this discovery so important is that PCD has always been very difficult to diagnose. Many times, it gets confused with more common problems like asthma or bronchitis, and children often suffer for years without getting the right treatment. But now, thanks to this new method developed at AIIMS using a high-powered machine called a Transmission Electron Microscope (TEM), doctors can clearly see if the cilia are damaged and confirm the diagnosis.

The work was led by Dr. Subhash Chandra Yadav from the Electron Microscope Facility in the Department of Anatomy and Prof. Kana Ram Jat from the Department of Paediatrics. Their findings were recently published in the prestigious journal Microscopy and Microanalysis from the University of Oxford. The results are very encouraging. The team tested this method on 200 patients and was able to correctly diagnose 135 of them with PCD—something that even the most advanced genetic tests often struggle to achieve.

What’s even more exciting is that this technique doesn’t just help with PCD. It can also detect several other rare diseases that are linked to faulty cilia, including problems with the kidneys, eyes, brain, bones, and even fertility. This means that a single test could help catch a wide range of hard-to-diagnose conditions.

The test itself involves carefully preparing a tiny tissue sample and looking at it under the TEM, which can magnify the structures 640 times better than regular methods. This makes it much easier for doctors to spot any tiny defects in the cilia that could be causing serious health issues.

Doctors and researchers are calling this a game-changer for rare disease diagnosis. Not only does it make diagnosis faster and more reliable, but it also opens the door to better treatment and care. For families who have been searching for answers about their child’s health, this new test could finally bring them the clarity and support they need.

This breakthrough marks a proud moment for Indian medical science, placing AIIMS at the forefront of rare disease research and offering real hope to children and families who have long struggled with uncertainty.