A brief presentation on the topic -Principles and use of molecular and genetic methods in epidemiology and clinical research

1. PHARMACOEPIDEMIOLOGY
ASSIGNMENT
TOPIC-”Principles and use of molecular and genetic
methods in epidemiology and clinical research”

2. ““ FIRST , WHAT IS PHARMACOEPIDEMIOLOGY EXACTLY ?? “”

4. PHARMACOEPIDEMIOLOGY :ORIGIN AND DEVELOPMENT

6. “Genetic Pharmacoepidemiology is the study of the role of
genetic factors in determining health and disease in families
and in populations, and the interplay of such genetic factors
with environmental factors. “
“ Genetic Pharmacoepidemiology seeks to derive a statistical and
quantitative analysis of how genetics work in large groups.”
“ NOW, WHAT IS GENETIC
PHARMACOEPIDEMIOLOGY EXACTLY ??? “

7. “ FUNDAMENTALS OF GENETIC PHARMACOEPIDEMIOLOGY:- ”
Traditionally, the study of the role of genetics in disease progresses through
the following study designs, each answering a slightly different question:
● 1) Familial aggregation studies: “ Is there a genetic component to the
disease, and what are the relative contributions of genes and
environment? “
● 2) Segregation studies: -” What is the pattern of inheritance of the
disease (e.g. dominant or recessive)? “
● 3) Linkage studies: -”On which part of which chromosome is the
disease gene located? “

8. METHODS IN GENETIC PHARMACOEPIDEMIOLOGY
● Association studies: “Which allele of which gene
is associated with the disease?
This traditional approach has proved highly
successful in identifying monogenic disorders and
locating the genes responsible.

9. APPROACHES IN GENETIC PHARMACOEPIDEMIOLOGY:-
Genetic epidemiological research follows 3 discreet steps, as outlined by M.Tevfik
Dorak:
1. Establishing that there is a genetic component to the disorder.
2. Establishing the relative size of that genetic effect in relation to other
sources of variation in disease risk (environmental effects such as
intrauterine environment, physical and chemical effects as well as
behavioral and social aspects).
3. Identifying the gene(s) responsible for the genetic component.

10. NOW, WHAT IS MOLECULAR PHARMACOEPIDEMIOLOGY ???
Molecular epidemiology can be defined as the application of the
techniques of molecular biology to the study of the epidemiology
of disease in human populations.
Molecular investigations, as we will see, have several aims and
can contribute to the elucidation of disease etiology.

11. MOLECULAR PHARMACOEPIDEMIOLOGY:A BRIEF LOOK
In molecular epidemiology, the study of the determinants of
disease focuses on causative, protective, or predisposing factors
(including infectious agents and a variety of environmental
exposures such as chemical or physical agents and lifestyle
habits) and host characteristics such as genetic susceptibility.
These studies are performed at the molecular level using the
techniques of molecular biology.

12. “ METHODS OF MOLECULAR PHARMACOEPIDEMIOLOGY :-
1) Analytical methods :-
The genome of a bacterial species fundamentally determines its identity. Thus,
gel electrophoresis techniques like pulsed-field gel electrophoresis can be used in
molecular epidemiology to comparatively analyze patterns of bacterial
chromosomal fragments and to elucidate the genomic content of bacterial
cells.
“ Pulsed-field gel electrophoresis is relied upon heavily in molecular
epidemiological studies. “

13. “ MOLECULAR EPIDEMIOLOGY : A BRIEF OUTLOOK “

14. “APPLICATIONS OF MOLECULAR PHARMACOEPIDEMIOLOGY “
Molecular epidemiology allows for an understanding of the molecular outcomes
and implications of diet, lifestyle, and environmental exposure, particularly how
these choices and exposures result in acquired genetic mutations and how these
mutations are distributed throughout selected populations through the use of
biomarkers and genetic information. Applications include:
● Molecular surveillance of disease risk factors
● Measuring the geographical and temporal distribution of disease risk
factors
● Characterizing the evolution of pathogens and classifying new pathogen
species

15. “ LIMITATIONS OF GENETIC AND MOLECULAR METHODS IN
PHARMACOEPIDEMIOLOGY ”
Limitations of molecular epidemiological studies are
similar in nature to those of generic epidemiological
studies, that is, samples of convenience -
both of the target population and genetic
information, small sample sizes, inappropriate
statistical methods, poor quality control, and poor
definition of target populations.

16. SUBMITTED TO:- DR.RIZWANA PARVEEN
MADE BY:- RISHABH SHARMA ( B.Sc 2nd YEAR )