The finding could give impetus to therapies of various age-related diseases. (Representative image) PUNE: 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. “We found a mutation in the tgm1 gene. With that exact mutation found we were then able to fulfil the family’s dream of the family to have a normal kid in the third pregnancy,” Gupta said. Thirty-two-year-old Sarika Kapse, mother of Sayli and Siddhant’s mother Sarika (32) conceived again. At twelve weeks, she got the foetus prenatally tested for the mutation the doctors had found earlier. “The foetus had only one such copy of mutation and thus would be born normal. Since this rare skin disorder is an autosomal recessive genetic condition, it needs two copies of the mutated gene for the skin disorder to occur. And the foetus had only one such mutation. The mother was counselled to continue the pregnancy and she gave birth to a normal child in December 2015. This is important because though genetic diseases per say are incurable, they can be prevented, saving someone a lifetime of misery,” Gupta said. The diagnosis was made through the Genomics for Understanding Rare Diseases, India Alliance Network (GUARDIAN) programme that researchers Sridhar Sivasubbu and Vinod Scaria have cofounded. It is funded by CSIR.
“We extensively utilize genomics approaches and computational methods to identify the causative mutation in families suffering from rare genetic diseases. As part of the programme, we work extensively and closely with clinicians, who regularly see families suffering from rare genetic diseases,” said Scaria in an e-mail reply. GUARDIAN is a collaborative research programme towards understanding the genetic basis and molecular mechanisms underlying rare genetic disorders. The consortium today encompass over 100 clinicians and researchers from over 25 medical and research centres across the country, making it one of the largest clinical genomics research networks in India for rare diseases. “In many cases of rare genetic diseases, arriving at a precise diagnosis would enable appropriate treatment and in many cases prevention. Given the large burden of genetic diseases in India (approx 70 million) GUARDIAN provides the much needed technological and intellectual network to tackle these problem in India”.