Page 20 - Annual report 2021-22

Annual Report 2021-22 |

This decision unit focuses on identification of genetic factors that can be translated into molecular
screening of diseases and therapeutics. Some of the diseases that have been studied at the institute
include neurological diseases like Ataxia, Wilson’s disease, Intellectual Disability, hemoglobinopathies
like Sickle Cell Anemia, and cardiac arrhythmias. The collection and analysis of genomics data, using
3
NGS based GWAS and exome sequencing, from across the country has been the unifying theme for all
these diseases.

Some of the specific key questions that are being addressed by the researchers of this decision unit
include, understanding the pathogenesis of neurodegeneration so as to delay the death of neurons;
pharmacogenomics of drugs used to treat neurological disorders to understand the varied responses
amongst different individuals; Ayurgenomics for identification of genetic variants that can be linked
to Prakriti based phenotypic classification of individuals; development of CRISPR-Cas based curative
therapies for hemoglobinopathies like SCA; genetic and biological mechanisms of rare genetic
diseases; generating of iPSCs from SCA and ataxia patient samples for gene correction therapy.

Identification of SARS-CoV2 variants for genomic surveillance across the country as part of multi-
institutional collaborative projects has been an additional focus of this decision unit.
Recent progress:

● Over 1000 Indian genomes have been sequenced and assimilated for developing GenomeApp
which can be used for disease prognosis by clinicians for individuals whose genome have been
sequenced.
● Under the INGEN-COV2 collaboration, 510 SARS-Cov2 genomes have been sequenced and 319
of them have been deposited in GISAID.
● Emergence of the delta and omicron lineages of SARS-CoV2 has been confirmed by genomic
surveillance.
● 7000 DNA samples of ataxia patients have been collected in the bio repository at CSIR-IGIB.
● Erythroid progenitor cellular model for testing CRISPR-Cas based therapy for SCA has been
developed.
● Herbal components like Vasa Ghana (whole aqueous extract of Adhatoda vasica) and Guduchi
Ghana (whole aqueous extract of Tinospora cordifolia) were repurposed for COVID-19.
● The mechanism of loss of neurons in Type2 Diabetes brains has been shown to involve
dysregulation of a kinase, Cdk5 that activates the unfolded protein response via IRE1-JNK
signaling.
● Data has been collected from 1062 epilepsy patients for developing genetic tests that can be
used by clinicians for choosing the anti-epileptic drug to be prescribed.
● Orientation programmes for Ayurveda postgraduates, researchers and training of trainers
have been organized to teach Prakriti classification methods and their scientific basis.