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Human genomics
Sequencing DNA
What you should know
• Sequencing DNA.
• Bioinformatics is the use of computer technology to
identify DNA sequences.
• Systematics compares human genome sequence data
and genomes of other species to provide information on
evolutionary relationships and origins.
• Personalised medicine is based on an individual’s
genome. Analysis of an individual’s genome may lead to
personalised medicine through understanding the
genetic component of risk of disease.
What is the Human Genome?
Definition: Genome – the whole hereditary
information of an organism that is
encoded in the DNA.
Human Genomics
• Human genomics is the study of the
human genome
• It involves determining the sequence of
the nucleotide base molecules along the
DNA
• The sequence of bases can be determined
for individual genes and entire genomes
• Entire genomes can be compared using
single nucleotide polymorphisms (SNPs)
What was the Human Genome Project?
• Main aims of the project:
• To identify the approximate 100,000
genes in the human DNA.
• Determine the sequences of the 3 billion
bases that make up human DNA.
• 14 Apr 2003 – The finished human genome
Bioinformatics
• Is the use of computer
technology to identify
DNA sequences
• The enormous amount
of data produced by
DNA and protein
sequencing can be
managed and analysed
using computer
technology and shared
over the internet
• Computer programs can
be used to identify
– Gene sequences by
looking for coding
sequences similar to know
genes
– Start sequences (there is a
good chance that each of
these will be followed by a
coding sequence
– Sequences lacking stop
codons (a protein coding
sequence is normally a
very long chain of base
triplets containing no stop
codon except the one at its
end
• Computer programs can be used to
search and identify base sequences to see
if it matches a specific amino acid
sequence already known to be typical of a
certain protein
• This is useful in the world of medicine
Systematics
• Is the study of a group of
living things with respect
to their diversity,
relatedness and
classification
• It compares human
genome sequence data
and genomes of other
species to provide
information on
evolutionary
relationships and origins
Personalised Medicine
• Personalized medicine is the ability to determine
an individual's unique molecular characteristics
and to use those genetic distinctions to diagnose
more finely an individual's disease, select
treatments that increase the chances of a
successful outcome and reduce possible
adverse reactions.
• Personalized medicine also makes it possible to
predict an individual's susceptibility to diseases
and enables steps to be taken that may help
avoid or reduce the extent to which an individual
will experience a disease.
Personalised Medicine-The future
• The nature of disease is very complex and
depends on both genetic and
environmental factors for expression
Pharmacogenetics
• Pharmacogenetics is the study of how
people's genetic makeup affects their
responses to drugs.
• If a drug is known to produce side effects
in some people, pharmacogenetic testing
may help identify at-risk patients.
Rational drug design
• Drugs work by interacting
with target molecules
(receptors) in our bodies and
altering their activities in a
way that is beneficial to our
health. In some cases, the
effect of a drug is to
stimulate the activity of its
target (an agonist) while in
other cases the drug blocks
the activity of its target (an
antagonist).
• Once DNA
sequencing has
identified the the
genes involved in a
specific disease and
established the
structure of the
protein expressed the
Pharmacogenetisists
try to synthesise a
specific drug
• The drug produced will
– bind to proteins involved
or
– prevent their synthesis
by binding to a specific
region of the DNA
preventing transcription
of abnormal mRNA
or
– by binding to the
abnormal mRNA
preventing translation
eg interfering RNA
(RNAi)
Do you know ?
• Sequencing DNA.
• Bioinformatics is the use of computer technology to
identify DNA sequences.
• Systematics compares human genome sequence data
and genomes of other species to provide information on
evolutionary relationships and origins.
• Personalised medicine is based on an individual’s
genome. Analysis of an individual’s genome may lead to
personalised medicine through understanding the
genetic component of risk of disease.