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
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
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 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
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 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.
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 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.
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: A new age drug technologyMahek Sharan
the pharmacogenomics require the pharmacology and genomic together to improve the drug responses and the new age drug potential according to individual need
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 helps to improve healthcare sector by providing information about variability among genes for a particular class of drug hence reduces adverse drug reactions.
Genetic polymorphisms are variations in gene sequences that occur in at least 1% of the general population, resulting in multiple alleles or variants of a gene sequence.
The most commonly occurring form of genetic variability is the single nucleotide polymorphism (SNP, often called “snip”)
Pharmacogenomics refers to the study of the relationship between specific DNA-sequence variation and drug effect, for example, variation in haplotype versus variation in therapeutic outcome
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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 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.
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: A new age drug technologyMahek Sharan
the pharmacogenomics require the pharmacology and genomic together to improve the drug responses and the new age drug potential according to individual need
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 helps to improve healthcare sector by providing information about variability among genes for a particular class of drug hence reduces adverse drug reactions.
Genetic polymorphisms are variations in gene sequences that occur in at least 1% of the general population, resulting in multiple alleles or variants of a gene sequence.
The most commonly occurring form of genetic variability is the single nucleotide polymorphism (SNP, often called “snip”)
Pharmacogenomics refers to the study of the relationship between specific DNA-sequence variation and drug effect, for example, variation in haplotype versus variation in therapeutic outcome
Similar to genetic polymorphism new Presentation.pptx (20)
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
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Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
2. Introduction
• Different individual exhibits different response to a same dose of drug.
• Mainly genetic built of individuals is responsible for the variations of
drug responses.
• Genetic variability of drug responses could be due to single gene
mutation or polygenic mutation ( majority being single nucleotide
polymorphisms).
• The term Genetic Polymorphism was formerly applied to variants
occurring at a frequency greater than 1%.
3. Pharmacogenetics
• Pharmacogenetics: Study of genetic variation in drug response in an
individual and often implies large effects of a small number of DNA
variants.
• Pharmacogenomics : Study of larger numbers of variants, in an
individual or across a population, to explain the genetic component of
variable drug responses.
• Aim of pharmacogenetics:
To identify which of these variants or combination of variants have
functional consequence for the drug effects.
4. Importance of Pharmacogenetics to
Variability in Drug Response
• Depends on the environmental factors and genetic factors.
• Result in altered protein sequence and function or in altered protein
levels through regulatory variation.
• Key genes for variable drug actions are those which encoding:
1. Drug-metabolizing enzymes
2. Drug transport molecules
3. Targets with which drugs interact
4. Host of other genes that modulate the context in which drugs act.
5. Types of Genetic Variants
1. Single-nucleotide polymorphisms (SNPs)
2. Insertions or deletions :
Range in size from a single nucleotide to an entire chromosome;
smaller ones are generally termed indels, and larger ones are designated
CNVs (Copy Number Variations).
Indels :- e.g. TA repeat in UGT1A1 [TATATAA TATATATAA]
CNVs :- Gene Duplications e.g., CYP2D6, up to 13 copies
6. Pharmacogenetic Traits
• A pharmacogenetic trait is any measurable trait associated with a drug.
Some traits reflect the beneficial or adverse effect of a drug in a
patient.
• Disadvantage : They reflect many genetic and nongenetic influences,
• Advantage : They indicate a drug’s clinical effects.
• Examples : Enzyme activity, drug or metabolite levels in plasma or
urine, or drug-induced changes in gene expression patterns.
10. Application on G6PD deficiency
• First pharmacogenetic examples to be discovered (X-linked
monogenic trait)
• Results in severe hemolytic anemia in individuals after ingestion of
fava beans or various drugs, including many antimalarial agents.
• Normally present in red blood cells, regulates levels of the antioxidant
glutathione.
• Antimalarials such as primaquine increase red blood cell fragility in
individuals with G6PD deficiency, leading to profound hemolytic
anemia;
11. Continue….
• More common in African Americans.
• Severity of the deficiency syndrome varies among individuals and is
related to the amino acid variant in G6PD.
• Severe form is associated with changes at residues that are highly
conserved across evolutionary history.
12. Pharmacokinetic Alterations
• Determinants : Particular metabolizing enzymes and transporters,
affect drug concentrations and therefore they are major determinants
of therapeutic and adverse drug response.
• Acording to drug metabolizing enzymes individuals are categorized
into :
1. Poor metabolizer having a reduced enzyme efficacy which leads
to increase risk of adverse drug reactions or toxicity.
2. Ultra-rapid metabolizers having significantly increased enzyme
efficacy, which may increase chance of therapeutic failure.
13. Drug metabolism :
Gene Product (Gene) Drugs Responses Affected
CYP2C9 Warfarin, phenytoin,
NSAIDS
• Anticoagulant effect
of Warfarin.
CYP2C19 Omeprazole,
voriconazole,
propranolol,
clopidogrel
• Peptic ulcer
Response to
Omeprazole.
• Cardiovascular
events after
clopidogrel.
14. Drug metabolism
Gene product (Gene) Drug Responses Affected
CYP2D6 B blockers,
antidepressant, codeine,
tamoxifen
• B blocker effect
• Tardive dyskinesia
from antipsychotics
• Codeine efficacy
• Breast cancer
recurrence after
tamoxifen
CYP3A4/3A5/3A7 Tacrolimus, midazolam,
quinidine
• Efficacy of
immunosuppressive
effects of tacrolimus
15. Drug transport :
Gene product (gene) Drugs Responses Affected
N-acetyltransferase (NAT2) Isoniazide, hydralazine,
sulfonamides,
procainamide, dapsone
• Isoniazide neurotoxicity
• Hydralazine-induced
lupus
• Hypersensitivity to
sulfonamides
Glutathione transferases
(GSTM1,GSTT1,GSTP1)
Several anticancer agents • Decreased response in
breast cancer,
• more toxicity and worse
response in acute
myelogenous leukemia.
16. Drug transport
Gene product (Gene) Drugs Responses affected
Organic cation transporter
(SLC22A2, OTC2)
Metformin • Renal clearance
Thiopurine
methyltransferase (TPMT)
Mercaptopurine,
azathioprine
• Thiopurine toxicity and
efficacy,
• risk of second cancers
Catechol-o-
methyltransferase
Levodopa • Enhanced drug effects
UDP-glucuronosyl-
transferase
Irinotecan,bilirubin • Irinotecan toxicity
18. Modifiers
Gene product (Gene) Drugs Responses affected
G6PD deficiency Primaquine and other
oxidizing drugs
Haemolytic anemia
Iron channels (HERG,
KvLQT1, Mink, MiRP1)
Erythromycin, cisapride,
clarithromycin, quinidine
• Increase risk of drug-
induced torsades de
points
• Increased QT interval
MTHFR Methotrexate • GI Toxicity
Prothrombin, factor V Oral contraceptives • Venous thrombosis risk
19. Clinical Pharmacogenomics
• Used to predict the safety, toxicity and efficacy of the drugs either as
part of drug development or as part of an individual’s optimum
treatment regimen.
• Techniques for gene specific drug development:
1. Recombinant DNA technology
2. Polymerase chain reaction
3. High-throughput DNA sequencing and related molecular biology
techniques.
20. Step towards Personalized Medicine
• Focuses on individualized drug treatment according to each Patient’s
molecular diagnosis and genetic makeup.
• Appropriate drug selection and rational dosage adjustment.
• Have clinical significance mostly for prodrugs and drugs with narrow
therapeutic index.
• Drug safety is always the area of primary concern.
• Targeted cancer therapy is a promising individualized drug therapy.
21. Challenges
Implementation of personalized medicine as routine care till not
possible due to many issues like:
• Particular drug is effected by multiple factors (Multiple genes are
responsible for same adverse effect).
• Lack of suitable test to detect the genetic variation (If available then
it’s cost-effectiveness may be a burden).
• Exploring sensitive information (someone’s genetic makeup) may rise
privacy, security and ethical issues.
• Clinicians not always aware of tests availability.
22. Conclusion
• Deal with the interactions between genetics and drug response.
• Have a great application in drug development and therapeutics
• Step towards personalized medicine and a critical approach to solve
the problem of variations in drug response due to genetic
polymorphism.
• Rational drug therapy on the basis of Patient’s genotype to maximize
benefit and minimize harm.
• To foresee the safety, toxicity and efficacy of drugs as part of drug
discovery and development.