As Principal Investigator of the South Side Health and Vitality Studies (SSHVS), Dr. Lindau directs population-based biosocial and health technology research using a community-engaged, minimally-invasive approach. This project is the major research component of the University of Chicago Medical Center’s Urban Health Initiative, and it involves dozens of faculty members across biomedical and social science disciplines at the University of Chicago collaborating with civic leaders and community members living on Chicago’s South Side.
As Principal Investigator of the South Side Health and Vitality Studies (SSHVS), Dr. Lindau directs population-based biosocial and health technology research using a community-engaged, minimally-invasive approach. This project is the major research component of the University of Chicago Medical Center’s Urban Health Initiative, and it involves dozens of faculty members across biomedical and social science disciplines at the University of Chicago collaborating with civic leaders and community members living on Chicago’s South Side.
Epidemiology, Triad of epidemiology, Brief epidemiology, Terminology used in Epidemiology, Epidemiology, traid, modes of disease transmission, disease control and prevention, Basic epidemiology, John Snow and Cholera with Epidemiology
Michael J. Fox Foundation Advocates for Study of Neurotoxic ChemicalsMitchell Blutt
A professor at Weill Cornell Medical College in New York, Mitchell Blutt also serves as CEO of Consonance Capital, an investment firm focused on the healthcare industry. A prominent philanthropist and civic leader, Mitchell Blutt formerly served on the board of the Michael J. Fox Foundation.
Observingthedistributionofdiseaseorhealth related events in human population.
• Identify the characteristics with which the disease is associated.
• Basically 3 questions are asked who, when and where.
• Who means the person affected, where means the place and when is the time distribution.
With the sequencing of the human genome and the mapping of millions of single nucleotide polymorphisms, epidemiology has moved into the molecular domain. Scientists can now use molecular markers to track disease-associated genes in populations, enabling them to study complex chronic disease that ight result from the weak interactions of any genes with the environment.
With the sequencing of the human genome and the mapping of millions of single nucleotide polymorphisms, epidemiology has moved into the molecular domain. Scientists can now use molecular markers to track disease-associated genes in populations, enabling them to study complex chronic disease that ight result from the weak interactions of any genes with the environment.
Epidemiology, Triad of epidemiology, Brief epidemiology, Terminology used in Epidemiology, Epidemiology, traid, modes of disease transmission, disease control and prevention, Basic epidemiology, John Snow and Cholera with Epidemiology
Michael J. Fox Foundation Advocates for Study of Neurotoxic ChemicalsMitchell Blutt
A professor at Weill Cornell Medical College in New York, Mitchell Blutt also serves as CEO of Consonance Capital, an investment firm focused on the healthcare industry. A prominent philanthropist and civic leader, Mitchell Blutt formerly served on the board of the Michael J. Fox Foundation.
Observingthedistributionofdiseaseorhealth related events in human population.
• Identify the characteristics with which the disease is associated.
• Basically 3 questions are asked who, when and where.
• Who means the person affected, where means the place and when is the time distribution.
With the sequencing of the human genome and the mapping of millions of single nucleotide polymorphisms, epidemiology has moved into the molecular domain. Scientists can now use molecular markers to track disease-associated genes in populations, enabling them to study complex chronic disease that ight result from the weak interactions of any genes with the environment.
With the sequencing of the human genome and the mapping of millions of single nucleotide polymorphisms, epidemiology has moved into the molecular domain. Scientists can now use molecular markers to track disease-associated genes in populations, enabling them to study complex chronic disease that ight result from the weak interactions of any genes with the environment.
Molecular epidemiology is an emerging branch of epidemiology developed by merging molecular biology into epidemiological studies. Molecular epidemiology studies identify infectious diseases’ causation and pathogenesis and unravel infectious agents’ sources, reservoirs, circulation pattern, transmission pattern, transmission probability, and transmission order. Molecular epidemiology, an area of epidemiology that is somewhat ambiguous, encompasses utilization of biomarkers and genetics as tools to define both exposures (factors that are inherited) and outcomes (factors that are acquired). In last few decades, it has grown extensively to help to understand of disease ecology, in planning disease control, and in drafting health policies.
Chemical Risk Assessment Traditional vs PublicHealth PerspeJinElias52
Chemical Risk Assessment: Traditional vs Public
Health Perspectives
Preventing adverse health ef-
fects of environmental chemical
exposure is fundamental to pro-
tecting individual and public he-
alth. When done efficiently and
properly, chemical risk assess-
ment enables risk management
actions that minimize the in-
cidence and effects of environ-
mentally induced diseases related
to chemical exposure. However,
traditional chemical risk assess-
ment is faced with multiple chal-
lenges with respect to predicting
and preventing disease in human
populations, and epidemiological
studies increasingly report obser-
vations of adverse health effects
at exposure levels predicted
from animal studies to be safe
for humans. This discordance
reinforces concerns about the
adequacy of contemporary risk
assessment practices for pro-
tecting public health.
It is becoming clear that to
protect public health more effec-
tively, future risk assessments will
need to use the full range of
available data, draw on innovative
methods to integrate diverse data
streams, and consider health
endpoints that also reflect the
range of subtle effects and mor-
bidities observed in human pop-
ulations.
Considering these factors,
there is a need to reframe
chemical risk assessment to be
more clearly aligned with the
public health goal of minimizing
environmental exposures asso-
ciated with disease. (Am J Public
Health. 2017;107:1032–1039.
doi:10.2105/AJPH.2017.303771)
Maureen R. Gwinn, PhD, Daniel A. Axelrad, MPP, Tina Bahadori, ScD, David Bussard, BA, Wayne E.
Cascio, MD, Kacee Deener, MPH, David Dix, PhD, Russell S. Thomas, PhD, Robert J. Kavlock, PhD, and
Thomas A. Burke, PhD, MPH
See also Greenberg, p. 1020.
For the past several decades,human health risk assessment
has been a pillar of environmental
health protection. In general,
the products of risk assessment
have been numerical risk values
derived from animal toxicology
studies of observable effects at
high doses of individual chem-
icals. Although this approach has
contributed to our understanding
of overt health outcomes from
chemical exposures, it does not
always match our understanding
from epidemiology studies of the
consequences of real-world ex-
posures in human populations,
which are characterized by expo-
sure to multiple pollutants, often
chronically, at concentrations that
can fluctuate over wide ranges;
susceptible populations and life
stages; potential interactions be-
tween chemicals and nonchemical
stressors and background disease
states; and lifestyle factors that
modify exposures (e.g., airtight
houses).1 Theseandotherissuesare
particularly important when de-
termining risk of complex diseases,
such as cardiovascular disease.
Ten years ago, the National
Research Council offered a new
paradigm for evaluating the safety
of chemicals on the basis of
chemical characterization, testing
using a toxicity pathway ap-
proach, and modeling and ex-
trapolating the ...
Molecular Epidemiology entails the inclusion in epidemiological research of biologic measurement made at the molecular level-and thus is an extension of the increasing use of biologically based measures in epidemiological research (McMichael ,1994).The term ‘molecular epidemiology’ may suggest the existence of a sub-discipline with substantive new research content . Molecular techniques, however, are directed principally at enhancing the measurement of exposure, effect, or susceptibility , and not formulating new etiologic hypotheses. As techniques of refinement and elaboration , the integration of molecular measures into mainstream epidemiologic research can offer higher resolution answers in relation to disease causation.
GENOMICS 5
Use these Clues+Informatiom (Leacture) to help you type your paper.
Application of Genomics in Medicine
1. What is genomics?
Genomics is the study of genes of an organism, their compositions and the interaction amongst themselves and their environment.
2. What is the application of genomics in medicine?
This is the use of genetic material from a patient for the diagnosis of a disease or to decide which therapy is most suitable. Mostly used in oncology and detection of rare infectious diseases.
3.
4. How The application of genomics in medicine would benefit the world?
Improve the screening for cancers to ensure early diagnosis. If most of the cancers can be able to be detected early enough, they can be treated. Early detection can be aided by the use of genomics.
Genomics can help diagnose some genetically linked diseases. Some diseases are passed through genes. Understanding these diseases and defects can help tame them or treat them, and look for ways to avoid their occurrence in future generations.
Through genomics, drugs can be developed against various diseases. For instance, genomics on various disease causative agents can help a lot in identifying the most suitable drug against them.
Genomics can aide the storage of bioinformatics data, which is very essential. This data can be used even in premarital counseling where the couple can be advised on whether the combination of their genes could result in any genetic conditions to their expected babies. This can help reduce the cases of genetic disorders.
· of genomics in medicine
· Oral plant vaccines; these use DNA to create surface antigens when consumed. They show potential in the immunization against Hepatitis B. The research is still underway.
· Heterologous prime-boost vaccine for malaria; Ankara virus has been used to further develop two vaccines with DNA from P. falciparum. This has shown the prospects of reducing infection rates by 80%. This is expected to e used in future.
· Anti-malarial drugs; fosmidomycin is being tested for its effect on a component involved in the life cycle of the P. falciparum parasite, which could help in the treatment of malaria.
· Screening for thalassemias; PCR has been used to observe the mutations that lead to formation of hemoglobin. This has aided in genetic counseling which has seen a significant reduction in the cases of thalassemias.
· Precision medicine; this allows the doctors to prescribe treatment based on the patient’s genetic information. This is presently being used in the medical field.
· Pharmacogenomics; this involves testing the possible outcome when a patient takes a certain medicine. Through use of genomics it is possible to identify possible side effects. This is currently being applied in the medical field.
· Genome editing; this is the deleting or adding to some portions of gene sequenc ...
Epidemiology is the study and analysis of the patterns, causes, and effects of health, disease & production conditions in defined populations, in terms of space and temporality.
Epidemiology is the study of the distribution of health related events. It is concerned with epidemic of communicable disease, non communicable infectious disease, chronic disease,maternal-child health, occupational health, environment health etc.
MYDRIATIC AND MIOTIC AGENTS AND DRUGS USED IN GLAUCOMA Rishabh Sharma
A brief Pathophysiology Presentation on the topic " MYDRIATIC AND MIOTIC AGENTS AND DRUGS USED IN GLAUCOMA "
Includes Both Open Angle and Closed Angle Glaucoma , their Mechanism Of Onset , Pathophysiology and Treatment ( Drugs Used In Glaucoma )
DIFFERENT METHODS OF PROTEIN ESTIMATION - PROTEINS AND ENZYMES ASSIGNMENTRishabh Sharma
A brief PROTEINS AND ENZYMES ASSIGNMENT on the topic - " DIFFERENT METHODS OF PROTEIN ESTIMATION " . Includes Methods, Applications, Uses and different techniques of protein estimation and separation . Separation on the basis of charge
ACID PHOSPHATASE - PROTEINS AND ENZYMES ASSIGNMENT Rishabh Sharma
A brief PROTEINS AND ENZYMES ASSIGNMENT on the topic - ACID PHOSPHATASE . Includes Properties, Reactions and Classification of Acid Phosphatases . Includes significance and functions of Aid Phosphatases as well.
(Monitoring Of Clinical Trial Assignment ) " Write about the factors that de...Rishabh Sharma
"Write about factors that determine the strategy of monitoring of Clinical Trials (Monitoring Of Clinical Trial Assignment )
Includes Extent and nature of monitoring , components of a monitoring plan , Documentation / Monitoring activities , Procedures of Monitoring , Importance of Monitoring Report , Factors to consider when developing a monitoring plan
Biopharmaceutics Presentation - A brief presentation on the topic- BCS Classification and it's role in formulation development . Includes uses of BCS Classification
CLINICAL BIOCHEMISTRY PRESENTATION ON HPLC- HIGH PERFORMANCE LIQUID CHROMATOG...Rishabh Sharma
A brief presentation of CLINICAL BIOCHEMISTRY on the topic HPLC- HIGH PERFORMANCE LIQUID CHROMATOGRAPHY
Includes :- Origin, Uses, Mechanism, Drawbacks,
A brief presentation of pharmacology on the topic " ANTICHOLINESTERASES " .
Includes Origin,USES, MECHANISM OF ACTION, SIDE EFFECTS , ADVERSE REACTIONS ,
A brief Presentation of Pharmacology on the Drug " Physostigmine " . Includes origin ,Indication, uses, treatment, trade name pharmacodynamics, side effects,
References -https://en.wikipedia.org/wiki/Physostigmine
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Seminar of U.V. Spectroscopy by SAMIR PANDASAMIR PANDA
Spectroscopy is a branch of science dealing the study of interaction of electromagnetic radiation with matter.
Ultraviolet-visible spectroscopy refers to absorption spectroscopy or reflect spectroscopy in the UV-VIS spectral region.
Ultraviolet-visible spectroscopy is an analytical method that can measure the amount of light received by the analyte.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
The increased availability of biomedical data, particularly in the public domain, offers the opportunity to better understand human health and to develop effective therapeutics for a wide range of unmet medical needs. However, data scientists remain stymied by the fact that data remain hard to find and to productively reuse because data and their metadata i) are wholly inaccessible, ii) are in non-standard or incompatible representations, iii) do not conform to community standards, and iv) have unclear or highly restricted terms and conditions that preclude legitimate reuse. These limitations require a rethink on data can be made machine and AI-ready - the key motivation behind the FAIR Guiding Principles. Concurrently, while recent efforts have explored the use of deep learning to fuse disparate data into predictive models for a wide range of biomedical applications, these models often fail even when the correct answer is already known, and fail to explain individual predictions in terms that data scientists can appreciate. These limitations suggest that new methods to produce practical artificial intelligence are still needed.
In this talk, I will discuss our work in (1) building an integrative knowledge infrastructure to prepare FAIR and "AI-ready" data and services along with (2) neurosymbolic AI methods to improve the quality of predictions and to generate plausible explanations. Attention is given to standards, platforms, and methods to wrangle knowledge into simple, but effective semantic and latent representations, and to make these available into standards-compliant and discoverable interfaces that can be used in model building, validation, and explanation. Our work, and those of others in the field, creates a baseline for building trustworthy and easy to deploy AI models in biomedicine.
Bio
Dr. Michel Dumontier is the Distinguished Professor of Data Science at Maastricht University, founder and executive director of the Institute of Data Science, and co-founder of the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. His research explores socio-technological approaches for responsible discovery science, which includes collaborative multi-modal knowledge graphs, privacy-preserving distributed data mining, and AI methods for drug discovery and personalized medicine. His work is supported through the Dutch National Research Agenda, the Netherlands Organisation for Scientific Research, Horizon Europe, the European Open Science Cloud, the US National Institutes of Health, and a Marie-Curie Innovative Training Network. He is the editor-in-chief for the journal Data Science and is internationally recognized for his contributions in bioinformatics, biomedical informatics, and semantic technologies including ontologies and linked data.
Observation of Io’s Resurfacing via Plume Deposition Using Ground-based Adapt...Sérgio Sacani
Since volcanic activity was first discovered on Io from Voyager images in 1979, changes
on Io’s surface have been monitored from both spacecraft and ground-based telescopes.
Here, we present the highest spatial resolution images of Io ever obtained from a groundbased telescope. These images, acquired by the SHARK-VIS instrument on the Large
Binocular Telescope, show evidence of a major resurfacing event on Io’s trailing hemisphere. When compared to the most recent spacecraft images, the SHARK-VIS images
show that a plume deposit from a powerful eruption at Pillan Patera has covered part
of the long-lived Pele plume deposit. Although this type of resurfacing event may be common on Io, few have been detected due to the rarity of spacecraft visits and the previously low spatial resolution available from Earth-based telescopes. The SHARK-VIS instrument ushers in a new era of high resolution imaging of Io’s surface using adaptive
optics at visible wavelengths.
Multi-source connectivity as the driver of solar wind variability in the heli...Sérgio Sacani
The ambient solar wind that flls the heliosphere originates from multiple
sources in the solar corona and is highly structured. It is often described
as high-speed, relatively homogeneous, plasma streams from coronal
holes and slow-speed, highly variable, streams whose source regions are
under debate. A key goal of ESA/NASA’s Solar Orbiter mission is to identify
solar wind sources and understand what drives the complexity seen in the
heliosphere. By combining magnetic feld modelling and spectroscopic
techniques with high-resolution observations and measurements, we show
that the solar wind variability detected in situ by Solar Orbiter in March
2022 is driven by spatio-temporal changes in the magnetic connectivity to
multiple sources in the solar atmosphere. The magnetic feld footpoints
connected to the spacecraft moved from the boundaries of a coronal hole
to one active region (12961) and then across to another region (12957). This
is refected in the in situ measurements, which show the transition from fast
to highly Alfvénic then to slow solar wind that is disrupted by the arrival of
a coronal mass ejection. Our results describe solar wind variability at 0.5 au
but are applicable to near-Earth observatories.
Introduction:
RNA interference (RNAi) or Post-Transcriptional Gene Silencing (PTGS) is an important biological process for modulating eukaryotic gene expression.
It is highly conserved process of posttranscriptional gene silencing by which double stranded RNA (dsRNA) causes sequence-specific degradation of mRNA sequences.
dsRNA-induced gene silencing (RNAi) is reported in a wide range of eukaryotes ranging from worms, insects, mammals and plants.
This process mediates resistance to both endogenous parasitic and exogenous pathogenic nucleic acids, and regulates the expression of protein-coding genes.
What are small ncRNAs?
micro RNA (miRNA)
short interfering RNA (siRNA)
Properties of small non-coding RNA:
Involved in silencing mRNA transcripts.
Called “small” because they are usually only about 21-24 nucleotides long.
Synthesized by first cutting up longer precursor sequences (like the 61nt one that Lee discovered).
Silence an mRNA by base pairing with some sequence on the mRNA.
Discovery of siRNA?
The first small RNA:
In 1993 Rosalind Lee (Victor Ambros lab) was studying a non- coding gene in C. elegans, lin-4, that was involved in silencing of another gene, lin-14, at the appropriate time in the
development of the worm C. elegans.
Two small transcripts of lin-4 (22nt and 61nt) were found to be complementary to a sequence in the 3' UTR of lin-14.
Because lin-4 encoded no protein, she deduced that it must be these transcripts that are causing the silencing by RNA-RNA interactions.
Types of RNAi ( non coding RNA)
MiRNA
Length (23-25 nt)
Trans acting
Binds with target MRNA in mismatch
Translation inhibition
Si RNA
Length 21 nt.
Cis acting
Bind with target Mrna in perfect complementary sequence
Piwi-RNA
Length ; 25 to 36 nt.
Expressed in Germ Cells
Regulates trnasposomes activity
MECHANISM OF RNAI:
First the double-stranded RNA teams up with a protein complex named Dicer, which cuts the long RNA into short pieces.
Then another protein complex called RISC (RNA-induced silencing complex) discards one of the two RNA strands.
The RISC-docked, single-stranded RNA then pairs with the homologous mRNA and destroys it.
THE RISC COMPLEX:
RISC is large(>500kD) RNA multi- protein Binding complex which triggers MRNA degradation in response to MRNA
Unwinding of double stranded Si RNA by ATP independent Helicase
Active component of RISC is Ago proteins( ENDONUCLEASE) which cleave target MRNA.
DICER: endonuclease (RNase Family III)
Argonaute: Central Component of the RNA-Induced Silencing Complex (RISC)
One strand of the dsRNA produced by Dicer is retained in the RISC complex in association with Argonaute
ARGONAUTE PROTEIN :
1.PAZ(PIWI/Argonaute/ Zwille)- Recognition of target MRNA
2.PIWI (p-element induced wimpy Testis)- breaks Phosphodiester bond of mRNA.)RNAse H activity.
MiRNA:
The Double-stranded RNAs are naturally produced in eukaryotic cells during development, and they have a key role in regulating gene expression .
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. “
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.