This document summarizes a seminar on genomics presented by Komal Rajgire. It defines genomics as the study of all genes in an organism, including their mapping, sequencing, and functional analysis. The key differences between genetics and genomics are outlined. The document discusses approaches in functional genomics like homology searching and expression analysis. It also covers related fields like structural genomics, epigenomics, metagenomics, pharmacogenomics, and the applications and future impact of genomics on medicine, drug discovery, and personalized treatment.

1. Seminar On: Genomics
Presented By: Komal Rajgire
Roll no 59
Pharmacutical Chemistry
M. V. P. SAMAJ’S COLLEGE OF
PHARMACY, NASHIK-02
Guided by : Dr. A. P. Pingle
Asso. Proffesor
Pharmaceutical Chemistry

2. Introduction
• Genomics built on recombinant DNA technology (
developed in 1970s & in 1990s the genome project
for several biological species).
• Thorough understanding of recombinent DND
Techniques
– Prerequisite for understanding genomics
technology.

3. What is genomics?
• Genomics is the sub discipline of genetics
devoted to the
- Mapping
- Sequencing
- Functional analysis of genomics
• It is the study of all genes present in an organism.
• It involve the study of all genes at the DNA,
mRNA,& proteome level as well as the cellular or
tissue level.

4. • The field includes studies of inter-genomic
phenomena and other interactions between the
genome.

5. Genomics Vs Genetics
Genetics Genomics
Genetics is the study of
heredity.
Genomics is the study of
entirety of an organism’s genes.
Gene refers to a specific
sequence of DNA on a single
chromosome.
Genomics refers to an
organism’s entire genetic
makeup.
It involve the study of function
& composition of the single
gene.
It involve the study of addresses
all genes and their inter
relationship.

6. • Describe the importance and impact of genomics &
bioinformatics in biology & biomedical research.
• Identify appropriate resources to gather pertinent
information.
• Perform searches using accessible databases and tools.
Objectives

7. Goals
The main aim of genomics is to;
• Sequence the entire genome by cutting it into
small, manageable pieces. (fragments)
• Assemble the entire genome from the pieces.
(fragments)
• Understand the how the gene is expression takes
place.

8. New Targets
Includes biological Space
Small molecule Space
New druggable space ?
Existing drugs (450 Targets)
targets)
~30,000 ~3,000
Total
Genome
Druggable
genes
3 billion bases pair
~30,000 unique genes
Any gene may be a potential drug target
~500 unique target
Their may be 10 to 100 variants at each target gene
1.4 million SNP
10200 potential small molecules

9. Discovery and Development of Drugs
Discover mechanism of action of disease
Identify target protein
Screen known compounds against target
or
Chemically develop promising leads
Find 1-2 potential drugs
Toxicity, pharmacology
Clinical Trials

10. Drug Discovery & Development
Identify disease
Isolate protein
involved in
disease (2-5 years)
Find a drug effective
against disease protein
(2-5 years)
Preclinical testing
(1-3 years)
Formulation
Human clinical trials
(2-10 years)
Scale-up
FDA approval
(2-3 years)
Drug Design
- Molecular Modeling
- Virtual Screening

11. Technology is impacting this process
Identify disease
Isolate protein
Find drug
Preclinical testing
GENOMICS, PROTEOMICS & BIOPHARM.
HIGH THROUGHPUT SCREENING
MOLECULAR MODELING
VIRTUAL SCREENING
COMBINATORIAL CHEMISTRY
IN VITRO & IN SILICO ADME MODELS
Potentially producing many more targets
and “personalized” targets
Screening up to 100,000 compounds a
day for activity against a target protein
Using a computer to
predict activity
Rapidly producing vast numbers
of compounds
Computer graphics & models help improve activity
Tissue and computer models begin to replace animal testing
Scale-up

12. Genomic Approach to Drug Discovery
Target Discovery
Existing Chemical and
biochemical knowledge
Target gene annotation
Literature
Functional & comparative Genomics
Functionally validated
target
A CB
Target
Prioritization
Biochemical & Cell
Based Assays
Drug Development Small
molecule lead
Screening and improvement
HTS+/- in silico SBDD
Therapeutic Application
Translated gene products
A B C
Sequence-structure
analysis
Experimental
Validation Comparative Proteomics
Genome data
GO terms
1. Molecular Function
2. Biological process
3. Cellular component
Role of targets
in disease

13. Functional genomics
• Functional genomics focuses on the dynamic aspects
such as gene transcription , translation , and protein–
protein interactions.
• Functional genomic projects (such as genome
sequencing projects ) to describe gene (and protein )
functions and interactions.
• Functional genomics attempts to answer questions
about the function of DNA at the levels of genes, RNA
transcripts, and protein products.

14. Approaches in functional genomics
Approach Functional annotation method
Homology searching Comparison to related sequences with known function
Protein structure
determination (structural
genomics)
Comparison to molecules with related structure and
known function
Comparative genomics Functional annotation by domain conservation,
conserved phylogeny or conserved genomic
organization
Expression analysis Similar expression profiles indicate conserved function
Mutagenesis Function based on mutant phenotype, e.g. knockout
mice
Protein interaction
screening
Function based on presence in multi-subunit complex or
on interaction with proteins of known function
Small molecule
informatics
Interaction with small molecules

15. Structural genomics
• Structural genomics seeks to describe the 3-
dimensional structure of every protein encoded by a
given genome.
• This genome-based approach allows for a high-
throughput method of structure determination by a
combination of experimental and modeling
approaches.

16. Epigenomics
• Epigenomics is the study of the complete set of
epigenetic modifications on the genetic material of a
cell, known as the epigenomics.
• Two of the most characterized epigenetic
modifications are DNA methylation and Histone
modification.

17. Metagenomics
• Environmental Shotgun Sequencing (ESS) is a key
technique in metagenomics.
– (A) Sampling from habitat;
– (B) filtering particles, typically by size;
– (C) Lysis and DNA extraction;
– (D) cloning and library construction;
– (E) sequencing the clones;
– (F) sequence assembly into contaings and
scaffolds.

18. Pharmacogenomics
• It is a study of how variation in the human
population correlates with drug response patterns.
• The analysis of genomic data and its comparison
with drug response data allows patients to be
clustered into drug response groups, so that
appropriate drugs and dose regimens can be
administered.
• Variation is catalogued by analyzing data on
mutation (particularly SNPs) and gene expression
profiles

19. Genomic Information in Medicine
Novel Diagnostics
Microchips & Microarrays - DNA
Gene Expression - RNA
Proteomics - Protein
Understanding Metabolism
Understanding Disease
Inherited Diseases - OMIM
Infectious Diseases
Pathogenic Bacteria
Viruses
Novel Therapeutics
Drug Target Discovery
Rational Drug Design
Molecular Docking
Gene Therapy
Stem Cell Therapy

20. Application of Genomics
• Identity comparison for new nucleic acid
sequences.
• Analysis of gene expression profile.
• Database of model organism.
• Hunting for disses-related genes.
• Analysis of the genes related to drug action.
• Screening of poisonous side effect genes.

21. • How to characterize new diseases?
• What new treatments can be discovered?
• How do we treat individual patients?
• Tailoring treatments?
Impact of Genomics on Medicine

22. Future of pharmainformatics
• Drug companies collect the genetic know-how to make
medicines tailored to specific genes – an effort called
pharmacogenomics.
• In the years to come, pharmacists may hand over one version
of blood pressure drug based on your unique genetic profile,
while the person behind in line would get a different version
of the same medicine!!
• There is going to be a day when somebody comes in with
cancer, and diagnosis can be done not on the basis of
morphology of the cancer but by looking at the detailed
patterns of gene expression and protein-binding activities in
that cell.

23. Target for the industry
• It is expected that in this decade, the pharmaceutical
industry will be faced with evaluating up to 10,000
human proteins against which new therapeutics
might be directed.
• That is 25 times the number of drug targets that have
been evaluated by all the companies since the dawn
of the industry.