Genome Sequencing Current Affairs - 2020

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What is IndiGen Genome project?

The Council of Scientific & Industrial Research (CSIR) has conducted a Whole Genome Sequencing of around 1,008 Indians from different populations across country in order to generate data on genetic diseases and to know risk of genetic diseases in future generations. The project is called as IndiGen Genome project.

Highlights of IndiGen Genome project

In April 2019, the IndiGen initiative was undertaken by CSIR. It was implemented by CSIR-Institute of Genomics and Integrative Biology (IGIB), New Delhi and CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad.

The outcome of project will have applications in a number of areas such as predictive and preventive medicine with faster and efficient diagnosis of rare genetic diseases.

The whole-genome data will be important for building the knowhow, baseline data and indigenous capacity in emerging area of Precision Medicine.

Benefits of Initiative

The ability to decode genetic blueprint of humans through whole-genome sequencing will be a major driver for- biomedical science, epidemiology of genetic diseases to enable cost-effective genetic tests, enabling efficient diagnosis of heritable cancers, carrier screening applications for expectant couples and pharmacogenetic tests to prevent adverse drug reactions.

Moreover, the outcomes of IndiGen project will be utilized towards understanding genetic diversity on a population scale thus making available genetic variant frequencies for clinical applications and enabling genetic epidemiology of diseases.

The whole genome data and knowhow for analysis of large scale genomic data is expected to enable evidence and aid in development of technologies for clinical and biomedical applications in India.

It will also ensure that India with its unparalleled human diversity is adequately represented in terms of genomic data and develops indigenous capacity to generate, analyze, maintain, utilize and communicate large-scale genome data in a scalable manner.

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CCMB unveils new Next Gen Sequencing facility

Dr Harsh Vardhan, Union Minister of Health and Family Welfare, Science and Technology and Earth Sciences, inaugurated Next Generation Sequencing (NSG) facility at Centre for Cellular and Molecular Biology (CCMB), a CSIR lab in Hyderabad, Telangana.

About Next Generation Sequencing (NSG) Facility

It would include technology for high genome sequencing and also diagnostic sequencing of clinical samples. It is 4th such facility in the country.

It is a state-of-the-art genome sequencing facility that can sequence 18,000 samples in 8 minutes. It is acquired at a cost of Rs.8 crore.

It can sequence 30 human genomes a day (or 384 diagnostic samples in a day). It would costs around ₹1 lakh to sequence one genome using this facility.

Applications:

It would help prenatal genetic screening and counselling, thus generating large scale genomic data critical for diagnosis and therapy.

It would especially help patients suffering from rare genetic disorders.

It would help in finding drugs for rare genetic diseases, which drug industry does not manufacture because of high costs involved.

By using NSG facility, scientists hope to find genetic cause of rare diseases and develop kits that can be used to find population at risk of genetic/other rare diseases

Significance: Much of existing body of knowledge for therapies for genetic diseases comes from studies done with Caucasian populations but this new NSG facility would help in generating large-scale genomic data from Indian populations, which was critical for genetic diagnosis and therapy.

Way Ahead: There is a need to develop Scientific Social Responsibility (SSR) and ensure that research is transferred to industry, and help public at large.

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