GENOMICS
By
Group 3
Outline:
introduction
Disease diagnosis and prognosis
Personalized medicine
Drug develoment
Introduction
Genomics is the branch of molecular biology that
focuses on structure, function, evolution, mapping, and
editing of genomes.
NB: Genome is the complete set of DNA (including all of
its genes) in an organism; this includes nuclear DNA and
mitochondria DNA (in animals).
>> Genomics is differ from genetics because , genetics
focuses on on individual genes and their role in inheritance
while genomics examine all genes and how they interact.
cont’n....
Types of genomics:
Structural genomics- studies the physical structure of
genome.
Functional genomics- explore how genes and intergenic
regions of the genome contribute to different biological
functions.
Comparative genomics- comare the genome of different
species.
cont’n...
Epigenomics- studies chemical modifications on DNA or
histones that affect gene expression.
Metagenomics- analyzes genetic materials recoverd
directly from envionmental samples ( eg. soil, gut
microbiota).
.
GENOMICS IN
DISEASE DIAGNOSIS
AND
PROGNOSIS
GENOMICS IN DISEASE DIAGNOSIS
• It involves using a patient’s DNA( or the DNA of
pathogens) to detect, predict, or confirm disease, eg
sickle cell anemia, haemophilia, down’s syndrome, cystic
fibrosis and other genetic disease.
Here is how it works:
*Genetic testing
-Detects inherited disoders (eg sickle cell anemia,
cystic fibrosis)
-Identifies carriers of genetic conditions.
cont’n...
Whole Genome sequencing:
-Analyzes the entire DNA to detect rare or unknown
disease,
Cancer genomics :
-detects mutation in tumor DNA to guide targeted
therapy
cont’n..
Prenatal diagnosis:
-Uses genomic test, e.g NIPT (Non-Invasive Prenatal
Testing) to detect chromosomal abnormalities like
Down’s syndrome.
Pharmacogenomics:
-Predicts how genes influence a person’s response to
drugs
cont’n..
Genomics in infectious diseses:
-Identifies pathogens( viruses, bacteria, etc) through
sequencing, eg COVID-19 virus.
GENOMICS IN DISEASE PROGNOSIS
Prognosis refers to the prediction of the likely course,
outcome or progression of a disease based on
person’s genomic informations.
Here is how it works:
Disease risk
-likelyhood of developing certain conditions
Disease severity
-how mild or aggressive the disease may be.
cont’n..
Progression pattern
-Speed or stages of development, example cancer at
stage four can not be cured due to severity.
>>It is commonly used in cancer genomics, inherited
disoders, cardiovascular risks and neurodegenerative
disease like multiple sclerosis.
THE APPLICATIONS OF GENOMICS:
1. Personalized medicine
-Predects the person’s risks of certain disease,
-Facilitates targeted and effective therapies,
-Reduces adverse drug reaction through
pharmacogenomics
cont’n..
2. Drug development
-Accelerates drug discovery through genomic target
identification,
-Enables development of gene-specific therapies,
-Improves success rates in clinical trials with
biomarker-based selection
BIBLIOGRAPHY
.Principle of genetics by D. Peter
.Medical genetics by Lynn B. Jorde
.Pharmacogenomics by Francis Lam & Mark P Linder
.
THANK YOU
