Scientists to take a shot at a rare disease

A rare disease that has killed hundreds and crippled many more in Shivamogga is among genetic mysteries that scientists aim to crack through India's first large-scale public database of human genetic maps.

The Council for Scientific and Industrial Research's IndiGen database contains the full genome sequences of 1,008 Indians from different regions with varying characteristics, opening up a new window for geneticists to probe some of the long-standing puzzles that have baffled scientists and doctors.

One such riddle comes from a forested area of southern Karnataka where an unusual and painful osteoarthritics disorder known as Handigodu syndrome is commonplace.

“Handigodu is unique to Shivamogga with 35-40% people having this syndrome. They are dwarfs with heights 3-3.5 ft and bent knees. The disorder is poorly understood,” said Rakesh Mishra, director of Hyderabad-based Centre for Cellular and Molecular Biology – one of the two CSIR laboratories associated with the project.

“It's not that everyone in a family have such short stature and bent-knees. We have collected about 100 samples, which can tell us the DNA signatures underlying such conditions on the basis of which we can design screening tools to advise the parents,” Mishra told DH.

Handigodu syndrome is not the lone genetic enigma that scientists hope to resolve with the Indian human DNA data.

Blood samples were collected from an area in Srikakulam district of Andhra Pradesh, where kidney diseases are widely prevalent. Studies are currently going on to throw lights on the perplexing case of Uddnam Nephropathy.

The third group of samples were drawn from 90 plus people who can provide a clue to scientists on the secret behind their longevity. The fourth set of samples came from south India's Vaishya community who are known to have a traumatic response to muscle relaxants that are injected prior to surgery as anaesthesia. There are several other such categories.

The IndiGen would not only be used to study the genetic diversity of Indian population but also offer a low-cost route to screen for a host of genetic disorders ranging from cystic fibrosis and beta-thalassemia to Hunter syndrome, Union Science Minister Harsh Vardhan said here on Friday, releasing the complete set of human genetic sequences.

The Institute of Genomics and Integrative Biology, Delhi – the second CSIR laboratory implementing the project – has tied up with many commercial clinical units like Dr Lal Path Labs to offer the genetic screening service on the basis of the CSIR technology.

“There are nearly 70 million Indians with genetic disorders. Our technology will allow them to screen for such diseases in their offspring,” said IGIB scientist Sridhar Sivasubbu.

Gurugram-based Genique Lifesciences, a start-up that tied up with IGIB, offers tests for 1700 plus such diseases at half of the cost of existing commercial tests.

“The CSIR data-set provides us with an additional layer of information on the globally available genetic data to help determine the incidences and frequency of these diseases in India,” said Abhishek Das, founder and CEO of the firm.