Berhampur: Researchers at Indian Institute of Science Education and Research (IISER), Berhampur, have developed a nanotechnology-based platform to facilitate faster and more sensitive detection of Turner syndrome, a rare genetic disorder caused by the complete or partial absence of one of the X chromosomes in females.
This disease generally happens to female births only with a prevalence of one in every 2,000 females. The disease can lead to short stature, delayed puberty, impaired ovarian function, infertility and complications involving the heart, kidneys and other organs of the body.
The diagnosis of the disease is generally carried out through chromosomal karyotyping, which requires specialised facilities and takes about a month or more from collection of the sample to the result, said scientists.
“The new sensing platform combines a nucleotide-guided covalent organic framework with gold nanostars to identify disease-specific DNA sequences associated with Turner syndrome,” said Parikshit Moitra, assistant professor, department of chemical sciences, IISER, who led the study to develop new technology.
“By integrating molecular recognition with advanced nanomaterials, the system offers a rapid and highly sensitive approach to detecting Turner-related genetic signatures,” he said. The technology has been tested with several Turner clinical samples obtained from a private hospital in West Bengal. Sunetra Mondal and Satinath Mukhopadhyay were associated with the study, he said.
Researchers believe the same strategy could eventually be adapted for other inherited disorders. The findings have been published in the latest edition of Advanced Functional Materials, a leading journal in materials science and nanotechnology.
The research team also acknowledged Prof Ashok Kumar Ganguli, director of IISER Berhampur, for his encouragement and support to carry out the research to develop new facilities.
Ganguli has congratulated the research team and hoped new facilities help doctors in quick diagnosis and early treatment of patients. “Further clinical validation is required before its routine use; the technology represents an important step toward faster, affordable, and accessible genetic diagnostics, with potential applications in precision medicine and improved early clinical decision-making,” claimed Moitra.
