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.
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.
Globally many countries have undertaken genome
sequencing of a sample of their citizens to determine unique genetic traits,
susceptibility (and resilience) to disease.
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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.
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.
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.
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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.
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.
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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