Introduction

SKAN Research Trust (SKAN RT), and the UK-based Wellcome-MRC Cambridge Stem Cell Institute (CSCI), executed a series of partnership agreements on 6 September 2023 in Cambridge to further accelerate stem cell studies in SKAN and India. SKAN – CSCI Consultancy Agreements-SKAN will upgrade its stem cell and bioinformatics facilities through inputs from CSCI and receive active assistance from CSCI to set up the SKAN Stem Cell Centre of Excellence. SKAN – CSCI Joint Study- Dr Jyoti Nangalia, Group Leader at the Wellcome-MRC Stem Cell Institute and Wellcome Sanger Institute, will be the Principal Investigator of the first SKAN – CSCI joint study on “The genomic landscape of neurodegenerative diseases of ageing in an Indian cohort”. The joint project will be carried out on Indian cohorts, which will also create opportunities. During this period, SKAN researchers will be trained in top-of-the-line technologies at CSCI.

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Objectives and Background of the Study

Cells in the human body accumulates somatic mutations with age and are also affected by intrinsic and extrinsic factors. Once acquired, these mutations are passed from parent cells to daughter cells in dividing tissues, accumulated at the latter parts of life. Many of these mutations result in a single cell dividing into an uncontrollable clonal expansion leading to cancer. Moreover, recent data suggest that somatic mutations also drive a multitude of non-cancerous diseases. These clones result in loss of resilience and susceptibility to disease upon ageing. How these clones trigger different disease, and to what extent their growth is modified by factors such as environmental exposures and genetic background/ethnicity, we can begin to understand how to modulate these clones to reduce susceptibility to disease. The joint project aims to characterise the role of these somatic mutations and clonal expansions in Indian patients suffering from aging related neurodegenerative disorders.