Research on genes rules out ailment in youngest sibling (Umesh Isalkar in Times of India Oct 6, 2016)
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.
Screening for rare genetic disorders at a point-of-click. (Prasad Ravindranath / The Hindu July 10, 2016)
Very few technologies in the biology space have the ability to bring about disruptive transformation and capture the imagination of scientists, clinicians, policymakers and ordinary people equally. Gene editing is one such technology that has been in the news lately for its potential applications in the realms of basic biology, biomedical sciences and agriculture. This technology holds promise not only for treatment of human diseases through correction of gene defects in cells, but also has potential for improving agricultural yields, producing disease- and pest-resistant animals and crops, and for producing organisms that can synthesize specific products of commercial or medicinal importance.
Studying genome sequencing of over 90-year-olds, centenarians. G N Prashanth (Deccan Herald Jan 05, 2015)
Dr Sridhar Sivasubbu, Scientist at the Institute for Genomics and Integrative Biology (IGIB), New Delhi, and his lab are deeply involved in human genome sequencing, which helps in use of personal genomes for precision medicine in humans.
They are undertaking an effort that was first launched in the United States in the 1980s, where the world’s biggest collaborative project in biology - the Human Genome Project (HGP) - was conceived. In 2003, the project was declared complete after the sequencing of the human genome, which has benefits in molecular medicine, energy and forensics. In an interview to Deccan Herald’s G N Prashanth, Dr Sivasubbu outlines IGIB’s and India’s journey in genome sequencing.
Full-text article online http://www.thehindu.com/opinion/op-ed/should-you-take-that-genetic-test/article8601156.ece
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