Finding a rare, genetic mutation is a tough task, and expensive too. A pan-India doctors' and researchers' consortium came to the Kapse's rescue when they wished to have another child. During the time when Sayli and Siddhant's initial treatment at D Y Patil Medical College and Hospital in Pimpri, the treating dermatologist researched on genetic diseases along with scientists at the Institute of Genomics and Integrative Biology (IGIB) in New Delhi, a premier Institute of Council of Scientific and Industrial Research (CSIR). "We went in for something called whole Exome Sequencing that means sequencing the entire coding region of the person's DNA. We did this for the entire all the four family members. The cost of this procedure, which runs into lakhs, was borne by IGIB," said dermatologist Aayush Gupta, the siblings' doctor. In a year, Gupta and other researchers at IGIB were able to find the exact cause of the disease. |  |
Media >