Genomics

Prof Dr. Nawaz Sb

Study of genomics and light on human genome
Introduction:

• So, Genomics is the study of the genome inside of us.

Genome of an organism Development and many biological functions

Genome Sequencing We're 99% identical to each other.

What’s the force, causing differences among

Then Question arises:
organism?

And other questions like: Why one person is tall other is short?

Why one person is get cancer other’s not?

And many more questions like that.

Answer to all previous questions is: Genome

Starting as a single cell. Genome is same in all cells

Divides into apparently But code is different for

identical cells. neuron cell and skin cell.

How different cells perform

Than into Embryo. different functions if genome is
same.

So need there is to identify

Embryo develops into whole
which factor is involved in this
organism.
process.
Cancer:

Another big area of research in genomics is cancer.

• cells in our body that have the same All cancer cells
genetic code, the same genome in them, has common
Cancer is
phenotypes
a genetic but somehow they've gone haywire. and
disease • they've started replicating without control. uncontrolled
• That's what makes something cancerous. division

Skin cancer, where a skin cell starts dividing

Cancer based on without control. It's also called Melanoma.
different cells
types.
There’s Lung cancer.
There are blood cancers that are called
leukemia.
Causes Of Cancer:
The mutations in our DNA, causes cancer.

accident in
Mutation Might be due to
replication

Every time your cells divide, the entire genome has to be copied.
And our cells are really, really good at this, fortunately,
otherwise, we wouldn't exist.

My cell makes an error, what does it

mean for a mutation or an error in
A question arises: replication to turn a cell cancerous?

What usually we think happens is that that mutation effects a

gene which now doesn't function properly and that gene, for
example, that might be a gene that controls cell division, and now
you've sort of turned off the check on cell division. And now the
cell starts replicating without control and you have a Cancer.
Mechanism:

A question arises “How does this all work?”

Central Dogma Francis Crick and one of the co-discoverers (50 years ago)

Reveals
that Information flows in a single direction

Genome(DNA) RNA(m,t,r) Proteins

Exons transcribes to It has 4 letter A, T, G, Triplet from RNA

produce RNA C and U in RNA encode for 1 A.A

RNA is exact copy of But translation in protein Typical protein consist

DNA not have 4 letters of 300 to 400 A.A
Now we learn that information travel in one direction.
Than it is impossible for a cell to behave differently, as it do in skin and neuron cells.

Some proteins goes back and bind with DNA and modify it so that it make changes.

This modification might Turn On or Off some features controlled by DNA.

DNA modifiers and other factors which changes it produces mutations sometimes.

Example is DNA methylation.

Question still remains at it place “How cancer is produced if Information in one

direction?”
Answer to that was given when we started sequencing The Human Genome 20 years
ago.
 Human Genome: France
1989 sequencing Human Genome started, we Uk
actually published the human genome in 2001 in just
12 years. I was part of that Project. It was an China
enormous effort. Scientists from all over the world
were in this project.
Colla
b orati
on Other
ing
Sequenc
Countries

Human
Genome

Cost
In past

Mouse genome, and the Cow From 1989 to 2000 thousands of scientists
genome cost on the order of $25 or were required to sequence the genome, but
now a single scientist can sequence genome
$30 million but later on in 1 run of machine
technology changed so as prices.
Cost Effective Genome sequencing:

In previous days sequencing cost was very high.

$25-$30 $1000 per

Now Decreased From To
Million sequence

We have progressed a lot by introducing different sequencing techniques.

That technique was introduced by Company “Solexa” (Illumina) now a

days.

Now one of biggest Banks Of genomic Data is “NCBI”.

Even we can see and sequence Genomic Data Easily all due to hard work of
our predecessors.
Any Questions

Yes No

Thank You