The document discusses pharmacogenomics, which is the study of how an individual's genetic makeup affects their response to drugs. It describes how genetic variations can influence drug metabolism and response through differences in enzymes, transporters, and receptors involved in drug absorption, distribution, and processing. Specifically, it highlights the role of cytochrome P450 enzymes and polymorphisms in CYP2D6, CYP2C19, and CYP3A4/5 in drug metabolism and potential adverse reactions. The goal of pharmacogenomics is to understand these genetic factors to predict drug responses and optimize treatment for each patient.
pharmacogenomics is a new drug discovry approach. It is the study of how genes affect a person's response to drugs, combining pharmacology and genomics
pharmacogenomics helps to improve healthcare sector by providing information about variability among genes for a particular class of drug hence reduces adverse drug reactions.
Pharmacogenomics is the branch of biochemistry in which study how an individual’s genetic inheritance affects the body response to drug. Pharmacogenomics is the intersection of genetics and pharmaceutical industry.
In this presentation a brief note is given about what is pharmacogenomics. Why different drugs work differently in different people. today pharmacogenomics, future of pharmacogenomics. also describe the future of pharmacogenomics. challenges which have to pharmacogenomics.
pharmacogenomics is a new drug discovry approach. It is the study of how genes affect a person's response to drugs, combining pharmacology and genomics
pharmacogenomics helps to improve healthcare sector by providing information about variability among genes for a particular class of drug hence reduces adverse drug reactions.
Pharmacogenomics is the branch of biochemistry in which study how an individual’s genetic inheritance affects the body response to drug. Pharmacogenomics is the intersection of genetics and pharmaceutical industry.
In this presentation a brief note is given about what is pharmacogenomics. Why different drugs work differently in different people. today pharmacogenomics, future of pharmacogenomics. also describe the future of pharmacogenomics. challenges which have to pharmacogenomics.
Pharmacogenetics is the study of influences of a gene on therapeutic and adverse effects of drugs.
Pharmacogenetics plays an important role in drug development and drug safety.
INTRODUCTION
What is pharmacogenomics
History
Principle
So what’s new about pharmacogenomics?
single nucleotide polymorphism (SNP)?
Genes commonly involved in pharmacogenomic drug metabolism and response
The anticipated benefits of pharmacogenomics
Pharmacogenetics Research/Database Program
Some of the barriers to using pharmacogenomics
Conclusion
References
Pharmacogenetics is the study of influences of a gene on therapeutic and adverse effects of drugs.
Pharmacogenetics plays an important role in drug development and drug safety.
INTRODUCTION
What is pharmacogenomics
History
Principle
So what’s new about pharmacogenomics?
single nucleotide polymorphism (SNP)?
Genes commonly involved in pharmacogenomic drug metabolism and response
The anticipated benefits of pharmacogenomics
Pharmacogenetics Research/Database Program
Some of the barriers to using pharmacogenomics
Conclusion
References
Pharmacogenomics deals with the influence of genetic variation on drug response by co-relating gene expression or polymorphism with a drug’s efficacy or toxicity.
Pharmacogenetics d and effect on determination of drug dosing in PharmacotherapyChiranjibBagchi1
Pharmacogenomics is a n upcoming issue in medicine and health which might be recognised as a future medicine.People might resort into genetic testing before being prescribed by a drug to optimise it,s efficacy and prevent toxicity.
Hence it definitely will have a personal, economical, societal, legal and ethical connotation and will not be restricted to merely a scientific and individual health related issue .So whole of the scientific fraternity and the medical and allied healthcareprofessional, legal system and political decision makers , drug manufacturers all should be held immensely responsible for future decision making to make decisions or creating guidelines and regulations to solicit the problems arising out of the application of new scientific discoveries based on Pharmacogenomics in future. Thus pharmacogenomics might come into a rescue for a particular group of persons benefitting out of the genetic testing in terms of successful drug therapy but others might deny testing for being marked to be a treatment orphan in the light of insurance providers. A mystereous and challenging situation might be awating for whigh the world human societyand community at large should get themselves prepared for.
Pharmacogenomics is a new trending branch which has created enormous hopes in improving diagnostic methods, treatment outcomes and preventing adverse events and therapeutic failures. In this ppt basics of pharmacogenomics and pharmacogenetics has been discussed in simplest possible way along with two case studies. Clinical applications of pharmacogenomics has also been discussed in brief.
genetic polymorphism new Presentation.pptxRumaMandal5
Genetic polymorphism was formerly applied to variants occurring at a frequency greater than 1%.
Types: SNPs,Insertions or deletions
Pharmacokinetic variations and pharmacodynamics variations
Application on G6PD deficiency
Pharmacogenetics and pharmacogenomics is an upcoming branch in therapeutics. Various pharmacogenomic tests are currently available to aid in actual clinical practice. It has shown to have promising results in personalized medicine It is my attempt to compile the basic concepts from various books, articles, and online journals. Please feel free to comment.
Pharmacological implications of genetic polymorphism and PharmacogeneticsRumaMandal4
Genetic polymorphism is applied to variants occuring at frequency >1%
Pharmacogenetics is study of genetic variation on drug response.
Pharmacogenetic traits may be Pharmacogenetics and pharmacodynamic types
This Presentation is about Pharmacogenomics and Pharmacogenetics , its Working , application, History.
It also contain a little bit info related to polypharmacy and its effects.
You can also see information regarding Drug Metabolism Phase, and drug Metabolizing Enzymes like CYPs, VKORC1, TPMT
What is greenhouse gasses and how many gasses are there to affect the Earth.moosaasad1975
What are greenhouse gasses how they affect the earth and its environment what is the future of the environment and earth how the weather and the climate effects.
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.
Earliest Galaxies in the JADES Origins Field: Luminosity Function and Cosmic ...Sérgio Sacani
We characterize the earliest galaxy population in the JADES Origins Field (JOF), the deepest
imaging field observed with JWST. We make use of the ancillary Hubble optical images (5 filters
spanning 0.4−0.9µm) and novel JWST images with 14 filters spanning 0.8−5µm, including 7 mediumband filters, and reaching total exposure times of up to 46 hours per filter. We combine all our data
at > 2.3µm to construct an ultradeep image, reaching as deep as ≈ 31.4 AB mag in the stack and
30.3-31.0 AB mag (5σ, r = 0.1” circular aperture) in individual filters. We measure photometric
redshifts and use robust selection criteria to identify a sample of eight galaxy candidates at redshifts
z = 11.5 − 15. These objects show compact half-light radii of R1/2 ∼ 50 − 200pc, stellar masses of
M⋆ ∼ 107−108M⊙, and star-formation rates of SFR ∼ 0.1−1 M⊙ yr−1
. Our search finds no candidates
at 15 < z < 20, placing upper limits at these redshifts. We develop a forward modeling approach to
infer the properties of the evolving luminosity function without binning in redshift or luminosity that
marginalizes over the photometric redshift uncertainty of our candidate galaxies and incorporates the
impact of non-detections. We find a z = 12 luminosity function in good agreement with prior results,
and that the luminosity function normalization and UV luminosity density decline by a factor of ∼ 2.5
from z = 12 to z = 14. We discuss the possible implications of our results in the context of theoretical
models for evolution of the dark matter halo mass function.
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.
Nutraceutical market, scope and growth: Herbal drug technologyLokesh Patil
As consumer awareness of health and wellness rises, the nutraceutical market—which includes goods like functional meals, drinks, and dietary supplements that provide health advantages beyond basic nutrition—is growing significantly. As healthcare expenses rise, the population ages, and people want natural and preventative health solutions more and more, this industry is increasing quickly. Further driving market expansion are product formulation innovations and the use of cutting-edge technology for customized nutrition. With its worldwide reach, the nutraceutical industry is expected to keep growing and provide significant chances for research and investment in a number of categories, including vitamins, minerals, probiotics, and herbal supplements.
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
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.
Professional air quality monitoring systems provide immediate, on-site data for analysis, compliance, and decision-making.
Monitor common gases, weather parameters, particulates.
2. Introduction
The term ‘Pharmacogenomics’ comes from the words
‘pharmacology’ and ‘genomics’.
Pharmacogenomics is the study of the role of the
genome in drug response.
Pharmacogenomics analyzes how the genetic makeup of
an individual affects response to drugs(Ermak,.2015).
3.
4. • It deals with the genetic variation on drug
response by correlating –
» gene expression
»SNP
»pharmacokinetics and pharmacodynamics
(drug absorption, distribution, metabolism,
and elimination).
»drug receptor target effects.
• Both SNPs and CNVs play a role in
pharmacogenomics, in different phenotypic
outcomes and measures. (Vaiopoulou, 2003)
6. It is well recognized that different patients respond in
different ways to the same medication.
7. • Numerous examples of cases in which inter
individual differences in drug response are
due to sequence variants in genes encoding
drug-metabolizing enzymes, drug
transporters, or drug targets.
• How variants formed ?
• SNP and addition,
• Deletion,
• Duplication of nucleotide
bases
8.
9. • Pharmacogenomics aims to develop to optimize drug
therapy, with respect to the animal’s genotype, to
ensure maximum efficacy with minimum adverse
effects. (Becquemont, 2009).
• Through the utilization of pharmacogenomics,
Pharmaceutical drug treatments can deviate from
what is dubbed as the "one-dose-fits-all" approach.
• It hopes to achieve better treatment outcomes, greater
efficacy, minimization of the occurrence of drug
toxicities and adverse drug reactions (ADRs).
• Drug efficacy is not influenced by variations in drug-
metabolizing genes but also by polymorphisms in
genes that encode drug receptors, transporters, and
drug targets. (Vaiopoulou, 2003)
10.
11. Polymorphism of enzymes responsible for
drug metabolism
• Most drugs undergo phase I metabolism, which
involves oxidation, reduction, or hydrolysis. Such
reactions transform the drug into a more polar water-
soluble metabolite.(Guengerich,2001)
• Some drugs can undergo phase II metabolism, which
entails conjugation of a polar group to the drug
molecule to make it more polar.(Akagah, et al 2008).
• Enzymes responsible for such transformations may
show a wide variation in enzymatic activities due to
genetic polymorphisms.
12.
13. Genetic Polymorphisms Influencing Drug Disposition
• CYP3A family of P-450 enzymes
The most prevalent drug-metabolizing enzymes are the
Cytochrome P450 (CYP) enzymes.
• the most commonly tested CYPs include: CYP2D6,
CYP2C19, CYP2C9, CYP3A4 and CYP3A5. These genes
account for the metabolism of approximately 80-90% of
currently available prescription drugs (Hart.,et al 2008).
• Across all species of fish, 137 genes encoding P450s have
been identified. These genes are classified into 18 CYP
families (Uno.,et al 2012).
• CYP3A induction leads to an increased metabolism of the
administered substance due to upregulated enzymes. This can
cause adverse reactions,like inflammation of the liver
(hepatitis) (Willson and Kliewer, 2002).
14. The genetic basis of CYP3A5 deficiency is predominantly a
single-nucleotide polymorphism in intron 3 that creates a cryptic
splice site causing 131 nucleotides of the intronic sequence to be
inserted into the RNA, introducing a termination codon that
prematurely truncates the CYP3A5 protein
1 2 3
Functional CYP3A5 protein Nonfunctional CYP3A5 protein
UGA
15. An example of different CYP2D6 alleles and
their effects on enzyme function
16. • Other enzyme like
• The cytochrome P-450 mixed-function oxidase (CYP)
• N-acetyltransferase (NAT1 and NAT2)
• Thiopurine-S-methyltransferase (TPMT)
• Polymorphism of uridine-5 diphosphate glucuronyl transferase
(UDP-glucuronyl transferase)
• Enzymes responsible for such transformations may show a
wide variation in enzymatic activities due to genetic
polymorphisms.
• The goal of pharmacogenomics is to understand such genetic
variations in order to predict the response of a particular drug
in a particular patient.
17. • Several transporters have been shown to have
pharmacogenomic relationships with drug
pharmacokinetics or effect.
• The best example of a drug transporter:
• Multidrug-resistant transporter and
• P-glycol- protine /MDR1
Polymorphisms of the transporter and
receptor proteins:
18. Pharmacogenetics testing methods
• AmpliChip CYP450-Using FDA-approved test kit.
• Determine the genotype of the patient in terms of two
CYPP450 enzymes: 2D6 and 2C19.
• FDA approved the test on December 24, 2004. The
AmpliChip CYP450 test is the first FDA
approved pharmacogenetic test.
19.
20. Pharmacogenetics testing methods
• Technologies and methods that used in
pharmacogenetics:
1. The DNA microarray
2. pyro-sequencing
3. Mass Spectrometry
4. Fluorescence based-platform
5. RFLP and RTPCR and their types (such as PCR-5
QPCR)
21. Detection of SNPs by hybridization.
• Blood is collected from a patient and
Genomic DNA is isolated from lymphocytes.
A PCR reaction is performed to amplify and tag DNA
fragments containing the SNP of interest.
Tagged DNA fragments are hybridized to SNP probes bound
to a solid matrix.
Mismatched fragments are washed away. Hybridized
fragments are fluorescently labelled and detected
Determine the SNP genotype.
24. Limitations of Pharmacogenomics
• The drug response is probably affected by multiple
genes.
• Drug response might be predicted from a certain
pattern of polymorphisms rather than only a single
polymorphism.
• Holding sensitive information on someone’s genetic
make up raises questions of privacy and security and
ethical dilemmas in disease prognosis and treatment
choices.
25. Future prospects
• Research in the field of pharmacogenetics is
moving in two main directions:
• 1) identify specific genes and their products
that are associated with different diseases and
may be targets for new treatments.
• 2) Identification of genes and allelic variants
of genes that may affect the response to drugs
for diseases.
26. Conclusion
• Identification of diseases related to genes and specific
drugs- more drug specific cure
• Categorizing of human diseases at genome level
• Can adopt primary and secondary preventive
measures
• Maximal patient care and minimum ADR
• Right drug, in right dose for the right
patient at right time
27.
28. References
• Uno, T., Ishizuka, M. and Itakura, T., 2012. Cytochrome P450 (CYP) in
fish. Environmental toxicology and pharmacology, 34(1), pp.1-13.
• Hart, S.N., Wang, S., Nakamoto, K., Wesselman, C., Li, Y. and Zhong,
X.B., 2008. Genetic polymorphisms in cytochrome P450 oxidoreductase
influence microsomal P450-catalyzed drug metabolism. Pharmacogenetics
and genomics, 18(1), pp.11-24.
• Willson, T.M. and Kliewer, S.A., 2002. PXR, CAR and drug metabolism.
Nature reviews. Drug discovery, 1(4), p.259.
• Ermak, G., 2015. Emerging Medical Technologies. World Scientific
Publishing Co Inc.
• Becquemont, L., 2009. Pharmacogenomics of adverse drug reactions:
practical applications and perspectives. Pharmacogenomics, 10(6), pp.961-
969.
29. • Vaiopoulou, A., Gazouli, M. and Karikas, G.A., 2013. Pharmacogenomics:
Current applications and future prospects towards personalized
therapeutics. J Buon, 18, pp.570-578.
• Guengerich, F.P., 2001. Common and uncommon cytochrome P450
reactions related to metabolism and chemical toxicity. Chemical research in
toxicology, 14(6), pp.611-650.
• Akagah, B., Lormier, A.T., Fournet, A. and Figadère, B., 2008. Oxidation
of antiparasitic 2-substituted quinolines using metalloporphyrin catalysts:
scale-up of a biomimetic reaction for metabolite production of drug
candidates. Organic & biomolecular chemistry, 6(24), pp.4494-4497.