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databases of the genetic variants based on published literature were also built. These databases
would be used for developing automated computational reporting engines for deployment in
clinical settings. About 40 samples for Wilson disease were also received from clinical
collaborators across India. Sanger based capillary sequencing assay involving nine amplicons for
hotspot mutations in the ATP7b gene was developed and samples were tested for the hotspot
mutation. For samples that did not have a hotspot mutation in the ATP7b gene, an extended
mutation panel consisting of 21 amplicons was developed. Further, a whole exome sequencing
and analysis pipeline for Wilson disease was also developed and tested on 21 samples. A clinical
reporting format was also developed for Wilson disease. Further, a comprehensive list of variants
involved in Wilson disease was collated and a database was developed.

Using exome sequencing followed by whole genome sequencing for novel variants and their
functional characterization, this programme can provide the genetic basis of several rare
diseases, thus improving diagnosis and providing technical support to clinicians.

DEVELOPMENT, TRANSLATION AND COMMERCIALIZATION OF GENETIC TESTS

FOR PREVALENT GENETIC DISEASES IN INDIA

Identification of genetic variation in the Indian population is a core expertise of the Institute of
Genomics and Integrative Biology. Through several explorations into the genomics of disease
loci, a knowledge base of common pathogenic variants has been built up, especially in the area
of neurological diseases. To make this knowledge base available widely to clinicians, a platform
for harnessing the power of Omics technologies for accurate diagnosis of diseases was
developed. The main goal of the GOMED project was to develop low-cost genetic diagnostic
assays for application in clinical settings through the opportunities offered by CSIR to fast track
translation of scientific discoveries to applications through the CSIR FTT programme. By offering
molecular genetic diagnostic assays through a large network of clinicians and hospitals, the
understanding of the mutation spectrum of genetic diseases in the country for three major
disease classes spanning Neurology, Cardiology and Genodermatoses would be enhanced.
Development of analysis pipelines and interpretation engines for next-generation sequencing
based assays for rapid and cost-effective diagnosis in clinical settings would go hand-in-hand
with the development of an allele frequency resource for mutations with application and utility
in diagnosis of genetic diseases in India.

Under the GOMED project, tests based on 300 candidate genes have been developed. Besides
these, seven comprehensive gene panel tests have been assembled, comprising 121 gene-based
tests. The exome-based gene panel test for ataxia and other neurodegenerative disorders spans
300 genes while all protein coding genes are explored for the exome-based screening test for
neurology, cardiology, and genodermatoses. More than 9000 patients, spread across about 50
hospitals, have derived benefits from the 23,000 tests requested and completed.

Ataxias form the major group of the neurological diseases that have been studied. Exome
sequencing has been employed to patient samples for understanding the mutation spectrum. A
specific gene panel test for ataxia and other neurodegenerative diseases has also been
developed. The gene panel developed through the joint work of Mohd. Faruq and Mitali Mukerji,
contains 300 genes. This is the latest addition to research into ataxia genetics spanning more

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