AIIMS develops diagnostic tool for rare genetic disorders

In a major breakthrough for rare disease diagnostics, researchers at the All India Institute of Medical Sciences (AIIMS), New Delhi, have developed a pioneering technique for diagnosing Primary Ciliary Dyskinesia (PCD) — a rare and frequently misdiagnosed genetic disorder that affects the respiratory system.

The novel method, based on transmission electron microscopy (TEM), is expected to significantly transform the detection and understanding of ciliary disorders.

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

This diagnostic approach has shown remarkable accuracy, detecting structural defects in motile cilia in nearly 70 per cent of suspected cases. AIIMS confirmed the technique was validated on 200 patients presenting symptoms of ciliary disorders, leading to confirmed diagnoses in 135 of them.

“The scope of this technique goes well beyond Primary Ciliary Dyskinesia,” AIIMS said in a statement. “It can accurately detect a range of rare conditions linked to ciliary dysfunction, including respiratory complications, renal cystic disease, congenital blindness, neural tube defects, intellectual disability, skeletal anomalies such as polydactyly and short limbs, ectodermal defects, situs inversus (where internal organs are mirrored) and infertility.”

According to the institute, this new method promises not only quicker and more reliable diagnosis but also opens avenues for targeted treatment, improved patient management and greater understanding of the biological mechanisms underlying ciliary disorders.

Delhi