Page 153 - CSIR-IGIB Annual Report 2020-21
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Genomics and Genome Informatics part of the Genomics for Understanding Rare
The last couple of decades have seen Diseases India Alliance Network (GUaRDIAN).
transformative technologies in genomics and We use genomic and informatic approaches to
applications of genomics in clinical settings find genetic mutations and collaborate
which are envisaged to create far-reaching extensively to suggest functional correlates of
changes in the way we practice medicine in the these mutations. This network today
future. These technological advancements in encompasses over 280 clinical collaborators
sequencing technologies have been from over 70 major clinical centres across the
supplemented by advancements in data country.
analytics and interpretation along with clinical Many findings from the collaborative efforts
guidelines in interpreting and reporting genetic have now impacted a number of patients and
variants. communities through accessible and affordable
Our lab works at the interface of genomics genetic tests and knowledge sharing
technologies and clinical medicine towards implemented through academic medical
understanding the genetic underpinnings of centres as well as diagnostic laboratories in the
genetic diseases working closely with clinicians country.
and patients and one end to discover novel
genetic variants and work with population scale Genetic epidemiology of diseases
genome sequences on the other end towards The availability of population scale genomic
understanding the genetic epidemiology of data from a number of human populations
diseases. We also work closely with around the world along with systematic
collaborators across the globe to collect and guidelines for interpreting pathogenicity of
curate disease-specific genomic evidence to aid genetic variants provided by the ACMG & AMP
clinical interpretation of genomic data. provides a unique opportunity to understand
As part of our outreach, we also actively engage population-level differences in genetic diseases
with clinicians in education and capacity and additionally explore founder effects for
building in our approach to accelerate the disease variants in populations. We use a mix of
adoption, fair and equitable use of genomic data science, systematic evidence collection
approaches and make genetic tests accessible and computational tools to understand and
and affordable. explore similarities and differences in disease
alleles in global populations and also attempt to
Genomics of Rare Diseases understand the genealogical history of
It is estimated that over 70 million Indians suffer prevalent genetic variants in populations. Our
from genetic diseases and many of the diseases attempts have resulted in the development of
remain undiagnosed. The burden of genetic unique genomic data resources for South Asian
diseases in India is additionally compounded by and Middle Eastern populations and uncovering
the fact that the population is stratified into a of a number of disease variants with founder
number of small endogamous groups and effects. Identification of prevalent genetic
consequently possible amplification of some variants with functional consequences in
genetic diseases in such communities. populations can have impact in early diagnosis
Notwithstanding these challenges, the large prevention and precise management of
family size and a close-knit family structure diseases.
ensures traceability of individuals and Going forward, we hope to extensively
possibility of identifying the large pedigrees of collaborate in understanding the genetic
genetic disease in such communities. architecture of communities and populations
We work closely with clinicians across the not widely covered in major global sequencing
country and in the region to help diagnose programmes with the possibility of impacting
patients and families with genetic disorders as the communities.
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