Page 12 - Biennial Report 2018-20 Jun 2021

some of the rare diseases that are now more tractable due to the

identification of the mutational spectrum leading to these diseases, using
exome sequencing. Rare diseases often pose challenges for doctors and
patients since a firm diagnosis may be elusive. In such cases, the

identification of causative mutations become the basis for tailor made
diagnostics, thus providing a solution for the suffering of patients with rare,

undiagnosed conditions. These studies have added strength to the GOMED
project which aims to develop low-cost genetic diagnostic assays for

application in clinical settings. Even as we hunt in the unknown realms of
the human genome for answers to incurable, undiagnosable diseases, we

also used our prior knowledge of biological pathways to develop
pharmacogenomics panels based on a candidate gene approach on the
serotonin pathway. Ayurveda, the traditional knowledgebase of Indian

medicine has provided a rich resource of such knowledge bringing together
small molecules, formulations and genetics to provide a holistic view of

health and disease. Modern tools such as the creation of cell lines derived
from individuals with unique combinations of phenotypic traits, when

combined with traditional knowledge on the variability between individuals,
is providing a new approach to personalized medicine. In each of these

programs, there is an in-built component of enthusing and educating
collaborators, beneficiaries and stakeholders be it patients, their families or

doctors.

Besides building on our existing capacity in the area of genomics and its
impact on human health and well-being, we have also explored
fundamental aspects of cells and molecules within. How do cells

communicate with each other to pass information about inflammation in
their vicinity? How do cells and organisms pass on information from one

generation to the next without making permanent changes is the genome?
Our research into epigenetics, trans-generational inheritance and the

puzzle of animal regeneration are supported by well-established animal
models like the fruitfly or zebrafish and as well as emerging models like the

earthworm. An evolutionary approach focusing on the proteins involved in
autophagy has given valuable insights into specific mutations with high

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