Understanding the 'Genomics' - Seeker's Thoughts

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Friday, 24 May 2019

Understanding the 'Genomics'


There are between 6,000 and 8,000 known rare diseases, many of which affect children’s development. One pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world. 
The gene editing has been used in crops, plants, and animals as well, and that worked positively. 

Yet thanks to advances in genome sequencing, more and more families are receiving an accurate diagnosis for their condition and with it a clearer picture of what the future holds. In some cases, it reveals the truth. 

The genome sequencing has wondered in lives of children who have been living with disorders and transform them. 

It’s not only children with development disorders whose lives are being transformed by this technology but it includes every individual on the earth.


In an indigenous mapping effort, nearly 1,000 rural youth from India has their genomes sequenced by the Council of Scientific and Industrial Research (CSIR) in April 2019. The project aimed at educating the generation of students on the “usefulness” of genomics. This was the first time that such a large sample of Indians will be recruited for a detailed study.
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Globally many countries have undertaken genome sequencing of a sample of their citizens to determine unique genetic traits, susceptibility (and resilience) to disease.

       The history of Genomics

Ever since the human genome was first sequenced in 2003, it opened a fresh perspective on the link between disease and the unique genetic make-up of each individual.

Nearly 10,000 diseases- including cystic fibrosis, thalassemia—are known to be the result of a single gene malfunctioning.

While genes may render some insensitive to certain drugs, genome sequencing has shown that cancer too can be understood from the viewpoint of genetics, rather than being seen as a disease of certain organs.

What is genomics?

Genomics is an interdisciplinary field of science focusing on the structure, function, evolution, mapping, and editing of genomes. 

A genome is an organism’s complete set of DNAs, including all of its genes. Genomics also involves the sequencing and analysis of genomes through uses of high through DNA sequencing. 
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Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain

Genome sequencing is figuring out the order of DNA nucleotides, or bases, in a genome- the order of As, Cs, Gs and Ts that make up an organism’s DNA. The human genome is made up of over 3 billion of these genetic letters.

Today, DNA sequencing on a large scale- the scale necessary for ambitious projects such as sequencing an entire genome – is mostly done by high-tech machines.

Much as eye which scans a sequence of letter to read a sentence, these machines “read” a sequence of DNA bases. Genome sequencing of often compared to “decoding” but a sequence is still very much in code. In a sense, a genome sequence is simply a very long string of letters in a mysterious language.

The Importance of Genomics

Sequencing the genome is an important step towards understanding it. The genome sequence will represent a valuable shortcut, helping scientists find genes much more easily and quickly. 

A genome sequence does contain some clues about where genes are, even though scientists are just learning to interpret.

Scientists also hope that being able to study the entire genome sequence will help them understand how the genome as a whole work, how genes work together to direct the growth development and maintenance of an entire organism.

When looking at whole genome sequencing, health professional considers a number of variables to determine the risk of diseases or the best course of treatment for diseases.



How does the genome sequencing works?

Inherited genetic disorders arise due to mutations in DNA that are passed-on at birth. Increased risk for developing breast cancer is linked to variations in genes such as BRCA1 in the genome

Sequencing an individual's genome or the tumor genome and comparing it to a reference human genome has helped identify the difference that contributes to the disease. In many cases, it has the potential to help with treatment decisions. 

In pregnant mothers, blood also contains DNA from the fetus. The scientist has developed methods that can sequence the cell-free DNA in a mother’s blood to monitor the genetic health of a developing baby. 

-The genomics revolution has enabled sequencing a large number of organisms including bacteria, plants and animals. 

-While it has confirmed the common evolutionary origin of life on earth, it has provided the code for a number of life forms. 

-Sequencing of plants including cereals like rice and wheat has set the stage for rapid crop improvement. 

-Understanding the genomes of livestock such as cattle goats has created a rich resource of genetic variations that can be used to produce animals with superior traits.
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About the India Project of Genomics

The project nearly covers 1,000 rural youth from India. The project is an adjunct to a much larger government-led programme which is still in the works to sequence at least 10,000 Indian genomes.

Those recruited as part of genome-sample collections are representative of the country’s population diversity and the bulk of them will be college students, both men and women, and pursuing degrees in the life sciences or biology.

Genomes will be sequenced based on a blood sample.  Every participant would be given a report and would be informed whether they carry gene variants that make them less responsive to certain classes of medicines.

The project would involve the Hyderabad-based centre for cellular and molecular biology (CCMB) and cost rupees 18 crore.


About the Centre for Cellular and Molecular Biology

The centre for cellular & molecular biology (CCMB) is a premier research organization which conducts high quality basic research and training in frontier areas of modern biology and promote centralized national facilities for new and modern techniques in the interdisciplinary areas of biology.

It was set initially as a semi-autonomous centre on April 1, 1977 with the biochemistry division of the then Regional Research Laboratory (presently, Indian Institute of Chemical Technology, IICT) Hyderabad.

It is located Hyderabad and operates under the aegis of the council of scientific and industrial research (CSIR).

It is designated as “centre of excellence” by the global molecular and cell biology network, UNESCO.
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