Basics of BioSafety
This lesson will define and present information on
methods used to provide biosafety in facilities
where potentially infectious agents are used.
These include:
Containment
Biological safety cabinets
Personal protection equipment
The facility as barrier
Secondary barriers
Applications of genomics and proteomics pptIbad khan
Applications of genomics and proteomics ppt
genomics and proteomics ppt
in the field of health genomics and proteomics ppt
oncology ppt
biomedical application of genomics and proteomics ppt
agriculture application of genomics and proteomics ppt
proteomics in agriculture ppt
diagnosis of infectious disease ppt
personalized medicine ppt
This document discusses ethics in biotechnology. It notes that recent advances in biotechnology are mostly associated with controversies due to ethical, legal, and social implications. Developments in biotechnology through genetic manipulation have benefits but must not cause safety issues or unacceptable social problems. The release of genetically manipulated organisms into the environment is controversial due to possible environmental damage. Biotechnological discoveries have raised ethical issues regarding products in areas like pharmaceuticals and agriculture. Guidelines and regulations aim to ensure safety regarding issues like infectious organisms, antibiotic resistance, and unintended effects of genetic modifications.
1) Researchers engineered haploid plants by altering the centromeric histone CENH3. When crossed to wild-type plants, this led to missegregation of chromosomes during mitosis and the production of haploid offspring containing only the wild-type parent's genome.
2) The dyad1 mutant in Arabidopsis produces unreduced female gametes through apomeiosis, leading to triploid progeny when fertilized. This demonstrates that altering a single gene can influence meiosis and may enable engineering of apomixis.
3) Chromosome engineering techniques like modifying centromeres and recombination proteins can enable new applications in plant breeding like producing haploids, engineering apomixis,
What is Genome,Genome mapping,types of Genome mapping,linkage or genetic mapping,Physical mapping,Somatic cell hybridization
Radiation hybridization ,Fish( =fluorescence in - situ hybridization),Types of probes for FISH,applications,Molecular markers,Rflp(= Restriction fragment length polymorphism),RFLPs may have the following Applications;Advantages of rflp,disAdvantages of rflp, Rapd(=Random amplification of polymorphic DNA),Process of rapd, Difference between rflp &rapd
The study of nucleic acids began with the discovery of DNA, progressed to the study of genes and small fragments, and has now exploded to the field of genomics. Genomics is the study of entire genomes, including the complete set of genes, their nucleotide sequence and organization, and their interactions within a species and with other species. The advances in genomics have been made possible by DNA sequencing technology. [Source: https://opentextbc.ca/biology/chapter/10-3-genomics-and-proteomics/]
The document discusses the history and techniques of genetic engineering and cloning. It notes that the first successful transfer of DNA between organisms was accomplished in 1973 by Herbert Boyer and Stanley Cohen. The first genetically engineered plant, tobacco, was reported in 1983. Genentech, the first genetic engineering company, was founded in 1976. The document also provides information on genetically modified crops and cloning, including that the first cloned mammal, a sheep named Dolly, was created in 1997.
- The HeLa cell line was created in 1951 from a biopsy taken from Henrietta Lacks without her consent during her treatment for cervical cancer at Johns Hopkins Hospital. These were the first human cells to be successfully immortalized and replicated in culture.
- HeLa cells have since been extensively used in medical research, including the development of the polio vaccine and HPV vaccine. They have advanced understanding of viruses, cancer, and human cells.
- However, Henrietta's cells were taken without her knowledge or consent, and her family lived in poverty despite the billions of dollars made from her cells by researchers and companies. Her family still has no legal rights over her cells or the ability to decide how they are used.
This ppt have a detailed source about the Biosafety issues in Biotechnology and their implements over by the government. It have a topics about the issues in antibiotic resistance gene , GMO crops etc.
Genome sequencing is the process of determining the order of nucleotide bases - A, C, G, and T - that make up an organism's DNA. Shotgun sequencing involves randomly breaking the genome into small fragments, sequencing those pieces, and reassembling the sequence by identifying overlapping regions. It was originally used by Sanger to sequence small genomes like viruses and bacteria. There are two main methods - hierarchical shotgun sequencing for larger genomes containing repeats, and whole genome shotgun sequencing for smaller genomes.
Ethical issues related to animal biotechnologyKAUSHAL SAHU
Introduction
Why are genetically modified animals produced?
Examples of transgenic animals
Why are animals used instead of genetically modified microbes or plants?
Ethical issues
Religious concerns
Responsibility of Scientists
Need for Guidelines
Conclusion
References
PHYSICAL MAPPING STRATEGIES IN GENOMICSUsman Arshad
Genetic and physical mapping are two types of genome mapping. Genetic mapping uses pedigree analysis and breeding experiments to determine sequence features, while physical mapping uses molecular techniques. Restriction mapping, radiation hybrid mapping, and STS mapping are techniques used to construct physical maps in the absence of complete DNA sequencing. Restriction mapping identifies restriction sites, radiation hybrid mapping analyzes fragments from irradiated cells hybridized with hamster cells, and STS mapping tags genomic sites using PCR primers. These physical mapping strategies provide distance and order estimates between DNA sequences to construct frameworks for sequencing.
This document is a presentation on genetically modified (GM) crops submitted by Saurabh Pandey to Prof. Dayal Doss of the Department of Plant Biotechnology at UAS GKVK. It discusses the introduction and history of GM crops, public concerns about them, issues regarding human health risks and environmental safety, leading countries in biotech crops, and strategies to address risks like gene containment and insect and herbicide resistance. It aims to provide a comprehensive overview of GM crops and issues related to their development and adoption.
Genomics is the study of genomes, including the structures and functions of genomes. A genome is an organism's complete set of DNA and includes all of its genes. Genome sequencing projects map and sequence the entire DNA of different species to understand their genes. Important genome sequencing projects have included microorganisms, plants, insects, and humans. The Human Genome Project aimed to map and sequence the 3 billion base pairs in human DNA to identify all human genes.
Ethical and Legal Issues Related to Medical Genetics Rayhan Shahrear
Define ethics and bioethics.
State the major ethical issues related to medical genetics.
Outline the uniqueness of medical genetics.
Outline the relevant ethical principles in medicine.
Discuss some ethical dilemmas that arise in the genetic clinic.
Explain the ethical dilemmas and public interest.
Dr. Najnin Akhter
Phase-A, Year-2, Block-6
Guided by Prof. K M Shamim
This is a lecture I put together as part of a Medical Ethics course that I am teaching at Bowling Green State University this summer. It is about ethical issues related to genetic screening and counseling, and prenatal genetic diagnosis.
The document discusses 10 scenarios involving genetic engineering and ethics. For each scenario, it presents options for actions and asks the reader to choose one. The scenarios cover issues like prenatal genetic testing, genetically modifying foods, cloning pets, designing "perfect" children, inheriting genetic disorders, predictive genetic testing, cloning for organ transplants, mandatory genetic databases, gene therapies, and mandatory genetic testing for health insurance.
Ecology is the study of interactions between organisms and their environment. It examines how living things affect each other and the world they inhabit. Ecologists organize these interactions into different levels of organization based on complexity, from organisms and populations, to biological communities, ecosystems, and ultimately the biosphere - the portion of Earth that supports life in air, water and land. Abiotic factors like temperature and biotic factors such as other living things both impact organisms and their environment.
This document provides an overview of genetics and its importance in medicine. It discusses the basic concepts of genetics including DNA, genes, chromosomes, genotypes and phenotypes. It also summarizes the different branches of genetics and patterns of inheritance such as autosomal recessive, autosomal dominant, X-linked, codominant and mitochondrial inheritance. Genetics plays a key role in medicine, with around 50% of first trimester abortions and 2-3% of birth defects due to genetic abnormalities.
LEGAL , SOCIAL AND ETHICAL ASPECTS OF BIOTECHNOLOGYpriti pandey
This document discusses the legal, social, and ethical aspects of biotechnology. Legally, the Indian government has established committees like the Genetic Engineering Approval Committee and rules around importation and commercialization of transgenic crops. Socially, there needs to be open dialogue around benefits and risks, as well as access to results. Ethically, there are debates around using biotechnology for good or evil, as seen in cases like inserting monkey genes or humanizing cow milk, which some argue go too far.
Gene therapy is a technique used to substitute defective genes that cause diseases with functional genes. It involves identifying the defective gene, extracting DNA, inserting a functional gene, and reinserting the modified DNA. There are two main types of gene therapy - somatic cell gene therapy, which treats only the individual and is not hereditary, and germline cell gene therapy, which could affect future generations but may be most effective. Gene therapy delivers the new genes via viral or bacterial vectors and holds promise to cure genetic diseases but also poses risks such as immune reactions or unintended effects.
The document discusses gene therapy as a promising approach for treating various diseases. It provides a brief history of gene therapy and describes some of the early clinical trials. It then explains some of the key concepts in medical genetics like DNA, genes, and enzymes. Different methods for gene delivery are also summarized, including viral vectors, physical methods, and chemical methods. Applications of gene therapy for cancer, neurological disorders, and other diseases are briefly mentioned.
This document discusses gene therapy, including its strategies, methods of delivery, history, and applications. It provides an overview of key concepts such as:
1. Gene therapy aims to treat genetic diseases by inserting normal genes into cells to compensate for abnormal genes. Strategies include gene replacement, gene augmentation, and gene inhibition.
2. Viruses are commonly used as vectors to deliver therapeutic genes. Retroviruses and adenoviruses integrate into the genome but can cause mutations, while adenoviruses are safer but less efficient.
3. The basic process involves isolating the normal gene, inserting it into a viral vector, infecting target cells, and having the cells produce functional proteins to return to
This document summarizes a student's genetics research project. It addresses how traits are controlled by dominant and recessive alleles as well as co-dominant alleles. It also explains how parental alleles combine to express traits in offspring. Additionally, it discusses the goals and timeline of the Human Genome Project, as well as some of the ethical, legal, and social implications of genetic research and laws like GINA that were influenced by the project. Finally, it briefly touches on single gene disorders, chromosome abnormalities, and multifactorial disorders as well as how genetic counseling can help parents understand genetic risks for future children.
This document discusses some key issues related to genetics and genetic testing, including:
1. Genetic information is personal, permanent, predictive, prejudicial, and pedigree-sensitive.
2. Risks of genetic testing include psychological impacts and practical impacts on employment, insurance, and medical care. Popular beliefs about genetics can also cause issues.
3. Confidentiality and consent are important ethical concerns, as genetic information reveals information about relatives without their consent.
These slide include gene therapy defines with their types like Germ line gene therapy,Somatic gene therapy.
with Need of Gene therapy
strategies of gene therapy
Methods of Gene transfer & with
GENE THERAPY FOR INHERITED DISORDERS
The document discusses various genetic technologies including genetic testing, genetic screening, preimplantation genetic diagnosis (PIGD), gene therapy, and genetic enhancement. It defines the key differences between genetic treatments, which aim to restore adequate functioning, and genetic enhancements, which aim to improve already adequate functioning. The document also distinguishes between negative eugenics techniques like genetic testing and gene therapy that prevent or control disease, and positive eugenics like genetic enhancement that improve normal traits, arguing that only negative eugenics are obligatory.
Ethical considerations in molecular & biotechnology researchDr Ghaiath Hussein
A lecture presented by Dr. Ghaiath Hussein in University of Khartoum for the students of the MSc programme in Genetics/Molecular Biology.
Session 1 (Introduction): Definition of ethics, bioethics and medical ethics.
What is an ethical issue?
International approaches to medical ethics
Islamic approaches to medical ethics
Elsi of gene therapy, stem cell research copyjayaganesh13
The document discusses the ethical issues surrounding gene therapy, stem cell research, and the Human Genome Project. It describes how these areas of research offer promise for new medical treatments but also raise concerns about germline editing, enhancement, identity, and equitable access. Specific issues addressed include the difference between somatic and germline gene therapy; debates over therapy versus enhancement; impacts on personal identity; and concerns about eugenics, resource allocation, and social context.
This document provides a history of the development of bioethics and medical ethics from ancient civilizations to modern times. It describes some of the earliest ethical codes from ancient Egypt, Babylon, India, Greece, Rome, and Islamic and Jewish traditions. It then outlines the progression of medical ethics standards over time, including influential codes and guidelines developed in response to unethical human experimentation, with a focus on the atrocities that occurred in the United States in the 20th century. Key milestones discussed include the Nuremberg Code, Declaration of Helsinki, and Belmont Report.
This document introduces the topic of bioethics and discusses some of the ethical issues that arise in medical research and practice. It defines bioethics as the ethics of medical and biological research. Some example issues discussed include when painful medical research on humans or animals is allowed, physician obligations to patients vs society, who decides who lives or dies when resources are limited, and determining patient decision-making capacity. The document explores how literature like "The Ones Who Walk Away from Omelas" can raise analogous questions about individual sacrifice vs social benefit. It also discusses the concepts of moral distress in health professionals, and the relationship between care, treatment, harm and benefit in medical ethics.
This document discusses the relationship between public health, human rights, and medical ethics. It defines key concepts like human rights, medical ethics, and public health ethics. Human rights are rights that belong to all people and cannot be taken away. Medical ethics focuses on moral principles in medicine while public health ethics considers population health issues. The document examines how human rights violations can impact health by increasing exposure, acquisition, and transmission of diseases. It emphasizes building capacity and using technology and rational behaviors to improve situations where health rights are not fully enjoyed.
BIOETHICS, a bridge between the facts and moral behaviour.UAS,GKVK<BANGALORE
Ethics guides us to make choices or judgements from the wrong to right.Bioethics refer a study of the ethical issues arising from health care, biological and medical sciences.
Ethical issues in genetic engineering and transgenicsSukhjinder Singh
This document summarizes the key ethical issues involved in genetic engineering and transgenics. It discusses how transgenics involves transferring genetic material between species and provides examples like creating disease-resistant crops. It then outlines some of the major ethical concerns regarding social impacts, health risks, environmental effects, and challenges to concepts of species boundaries. Intrinsic issues around creating new life forms and challenging what it means to be human are also examined. The document concludes by noting the debate around whether species boundaries are truly fixed or more fluid concepts.
The human genome project began in 1990 as a large-scale global effort to map the entire human genome. It was completed in 2003, two years ahead of schedule, at a cost of over $3 billion in public funding. The project raised important ethical issues regarding topics like biosafety, animal rights, biotechnology, genetic screening, and discrimination. While genetic screening allows for early detection of diseases and more informed medical decisions, it also risks stigmatization and potential misuse of genetic data by insurance companies.
The document summarizes information about the Human Genome Project (HGP). It discusses that the HGP aimed to map all human genes to further understand human development. The first draft of the human genome was published in 2001 and revealed there were around 20,500 genes, fewer than previous estimates. The full genome sequence was completed in 2003. The document also discusses the establishment of the Ethical, Legal and Social Implications program to examine how genetic information would be used and ensure protection of individuals. Key areas examined include privacy of genetic data, integration of genetic technologies in healthcare, issues in genetic research, and education needs regarding genetics.
The document discusses various ethical considerations in clinical trials, including planning trials, conducting research ethically, analyzing and reporting results, and ensuring justice. It provides an overview of guidelines for ethical clinical practice and considers issues like informed consent, minimizing risks and benefits, and equitable participant selection. Ensuring ethical research requires following principles like transparency, minimizing harm, and respecting participants' autonomy and welfare.
The document discusses personalized medicine and the company 23andMe. It provides definitions of personalized medicine from various sources emphasizing using genetic information to prevent and treat disease. It outlines the history of genomics projects like the Human Genome Project and HapMap. 23andMe allows customers to learn about their genetics through direct-to-consumer genetic testing. Customers submit a saliva sample and access results online regarding ancestry, traits, and disease risks. 23andMe aims to empower individuals and facilitate research through participant-driven studies. The document discusses examples of genetic insights into conditions like cancer and how pharmacogenetics can guide treatment choices.
In research involving human participants as trial subjects or tissueCharlotte Litten
The document discusses the importance of protecting human participants in medical research. It notes that while research with human subjects is sometimes necessary, guidelines like the Declaration of Helsinki are needed to ensure participants are not exploited and their welfare and autonomy are prioritized. Certain groups like children, the mentally ill, and the elderly are especially vulnerable to exploitation without such protections in place. Consent is also crucial for research even after a person's death to maintain public trust.
This document discusses several topics in bioethics including:
1. The definition and history of bioethics as a field emerging from advances in medicine and technology.
2. The four principles of bioethics: confidentiality, beneficence, justice, and autonomy.
3. Issues raised by genetic testing and prenatal diagnosis including social stigma, employment discrimination, insurance implications, and decisions around abortion.
4. Concerns regarding gene therapy and manipulating human genes including safety, ecological impacts, and playing God.
This document discusses several topics in bioethics including:
1. The definition and history of bioethics as a field emerging from advances in medicine and technology.
2. The four principles of bioethics: confidentiality, beneficence, justice, and autonomy.
3. Issues raised by genetic testing and prenatal diagnosis including social stigma, employment discrimination, insurance coverage, and decisions around abortion.
4. Concerns regarding gene therapy and playing God by tampering with human genes.
What are The Ethical Considerations in Biomedical Industry Research and Devel...Austin Seal
This document discusses the ethical considerations in biomedical research and development. It outlines the key ethical principles of respect for autonomy, beneficence, non-maleficence, and justice. It also examines specific ethical challenges like gene editing, use of placebos, and ensuring diversity in clinical trials. Oversight from institutional review boards is important to safeguard ethical standards while still allowing innovation. As biomedical research becomes more global and technological, balancing progress and human well-being will require ongoing vigilance and commitment to ethics.
Genetics is becoming more personalized with direct-to-consumer genetic testing services like 23andMe. 23andMe analyzes customers' DNA samples and provides information about their ancestry, traits, and disease risks through an online platform. This empowers individuals and facilitates research by creating a large participant network. While challenges remain in fully engaging all stakeholders, personalized genetics has the potential to transform healthcare by better targeting treatment to individual genetics.
This document discusses preimplantation genetic diagnosis (PGD), which allows parents to test embryos for genetic diseases or traits before implantation. It outlines challenges and concerns regarding PGD, including what conditions it should be used for, safety and effectiveness, access, and implications for society. Currently PGD has limited oversight. The document presents preliminary policy options for federal or state regulation, or non-governmental approaches, to address these issues. It aims to inform public discussion on policies for genetic technologies like PGD.
The document discusses various topics related to genetics and stem cell research including:
- The goals of the Human Genome Project which aimed to map all human genes between 1990-2003.
- Ethical, legal and social implications of the project including issues around genetic privacy and discrimination.
- Three types of genetic disorders - single gene, chromosomal abnormalities, and multifactorial disorders.
- The use of genetic counseling and karyotypes to understand genetic risks.
- Arguments for and against embryonic stem cell research focusing on when human life begins and whether embryos should be used for medical research.
Vladimir Trajkovski-Ethics and Human Genetics-Lithuania-27.10.2023.pdfVladimir Trajkovski
Prof. Dr. Vladimir Trajkovski presented "Ethics in Human Genetics" at the conference at Klaipeda University in Lithuania on 27.10.2023 via ZOOM platform
Discussion continuum - The biotechnology revolutionXplore Health
Biotechnology gives us an insight into the most intimate characteristics of a living being – its genetic code – and even allows us to alter it. But to what extent should scientists be allowed to alter and create living things? What restrictions should be in place regarding selection and implantation of embryos? How does biotechnology affect developing countries? To what extent do we have the right to know and not to know about genetic predisposition to illnesses? Who should assume the cost of providing such genetic information?
Groups of 8-12 students discuss the issues raised by each statement and choose where each card should go between ‘agree’ and ‘disagree’. Larger groups could use the resource to have a free discussion of the topic or you could use formats that require the students to work more formally or in smaller groups.
This document discusses the ethical considerations surrounding fertility preservation technologies. It begins by outlining the key ethical principles of autonomy, beneficence, nonmaleficence, justice, and veracity. It then examines the application of these principles to fertility preservation for both adults and children with cancer. Experimental technologies require thorough informed consent processes. Both patients' and any future children's health and well-being must be considered. Oversight from ethics boards is important when experimental techniques are used.
This document discusses ethical considerations regarding fertility preservation technologies. It addresses principles of autonomy, beneficence, nonmaleficence, justice, and veracidity. For experimental technologies, informed consent is essential and patients have a right to understand risks, costs, and limitations. While some technologies like embryo and sperm freezing are established, others like ovarian tissue freezing remain experimental. Long term studies are still needed to fully understand health outcomes for children conceived from these methods. When used for minors, extra protections are required given their vulnerable status.
From the event "Specimen Science: Ethics and Policy Implications," held at Harvard Law School on November 16, 2015.
This event was a collaboration between The Center for Child Health and Policy at Case Western Reserve University and University Hospitals Rainbow Babies & Children’s Hospital; the Petrie-Flom Center for Health Law Policy, Biotechnology, and Bioethics at Harvard Law School; the Multi-Regional Clinical Trials Center of Harvard and Brigham and Women's Hospital; and Harvard Catalyst | The Harvard Clinical and Translational Science Center. It was supported by funding from the National Human Genome Research Institute and the Oswald DeN. Cammann Fund at Harvard University.
For more information, visit our website at http://petrieflom.law.harvard.edu/events/details/specimen-science-ethics-and-policy
Emerging Technologies and Tools in Precision Medicine ResearchClinosolIndia
Precision medicine has witnessed significant advancements with the integration of emerging technologies and innovative tools. This abstract explores the current landscape of precision medicine research, focusing on the role of cutting-edge technologies and tools in revolutionizing healthcare approaches.
Similar to Bioethics in Genetic Research: Concepts and Applications (20)
This document summarizes the journal club meeting of July 31, 2012 for the Faculty of Medicine at Diponegoro University. It outlines four discussion groups and their topics:
Group 1 discussed a case study on improving access to mental healthcare in Afghanistan, a fragile context. Group 2 discussed indications that AIDS pandemic control may be achievable and challenges in treatment access. Group 3 discussed medical issues in Olympics and "performance-enhancing drugs." Group 4 discussed problems with the global food system, the influence of "big food" companies, and engaging with these companies to improve public health.
The Journal Club of the Faculty of Medicine Diponegoro university is a club that aims to familiarize students with reading comprehension of medical journal articles and promote the sharing of ideas and open discussion
This document provides images and information for identifying different intestinal protozoa under a microscope. It shows trophozoites and cysts of Entamoeba histolytica, Entamoeba coli, Endolimax nana, and Iodamoeba butschlii, including their appearances and key distinguishing characteristics to help with diagnosis.
This document provides an overview of schistosomiasis and other fluke infections. It describes the lifecycles and clinical manifestations of Schistosoma mansoni, S. japonicum, S. haematobium, Clonorchis sinensis, Opisthorchis species, and Fasciola hepatica. Schistosomiasis remains a major public health problem, infecting over 200 million people globally. Chronic infection can lead to liver and intestinal disease, portal hypertension, and genitourinary complications. Diagnosis involves finding parasite eggs in stool, urine, or biopsy samples, and serology can also be used. Praziquantel is the treatment of choice for
DISCLAIMER: No copyright infringement intended. Images are not mine and all copyrights belong to their respective owners. This pdf file is not for sale and for educational purposes only.
"Facing the challenge of climate change in health issues", Agora L’Oréal-UNES...Rahajeng Tunjungputri
This document discusses the challenges of climate change and infectious diseases in Indonesia. It notes that many common infectious diseases in Indonesia are influenced by climate change, as changes in temperature and weather patterns affect disease vectors and outbreak patterns. It describes how climate change has particular impacts on vulnerable populations in Indonesia due to factors like poverty, population density, and lack of access to healthcare. It argues that addressing these health issues requires an integrated, multidisciplinary approach involving various levels and sectors of government, organizations, and communities.
Rahajeng Tunjungputri is a 25-year old medical doctor from Indonesia who received scholarships to study in France, Italy, and the Netherlands. She sees conflicts for women in science between pursuing careers and cultural expectations that women should dedicate themselves to their families. However, she believes more women in leadership roles are changing expectations to better accommodate female scientists. For her own career, she plans to focus on research and teaching to balance family and work responsibilities.
Next generation sequencing (NGS) provides a 1000-fold increase in sequencing output and a 100-fold reduction in cost compared to Sanger sequencing. This allows for large-scale sequencing of genes and genomes to identify genetic defects underlying human diseases. The document describes applications of NGS in clinical genetics such as sequencing known disease genes, identifying new disease genes, sequencing whole genomes, and sequencing all human genes in patients. It also discusses future predictions and challenges regarding use of NGS in clinical genetics.
Master of Biomedical Science RUNMC - Prof. Frans Cremers / FMDU July 2010Rahajeng Tunjungputri
Presentation about the Master Programme of Biomedical Science of Radboud University Nijmegen Medical Centre, at Faculty of Medicine Diponegoro University, 21 July 2010
This document provides information about an upcoming international seminar and workshop on fragile X syndrome, autism, and related neurodevelopmental disorders. It will feature talks from two keynote speakers: Professor Randi Hagerman, the medical director of the MIND Institute at UC Davis, who is an expert in fragile X syndrome research; and Louise Gane, a genetic counselor from the MIND Institute who assists patients with fragile X syndrome. The event is being organized by Diponegoro University in collaboration with the MIND Institute and will include poster presentations and discussions on the management and treatment of mental retardation, autism, and other neurodevelopmental disorders.
Prof. dr. Frans P.M. Cremers will give a presentation and master classes about the "Molecular Mechanism of Disease" top master's program at Radboud University Nijmegen Medical Centre in the Netherlands. The presentation will provide information about the program and take place on July 21st, 2010. The master classes on July 22nd-23rd will cover topics like genetic linkage mapping and genetic therapies. Prof. Cremers received his PhD in human genetics in 1991 and is currently the director of the top master's program and a professor of molecular biology of inherited eye diseases.
This document summarizes literature on Parkinson's disease (PD), including its etiology, risk factors, clinical manifestations, diagnosis, treatment and genetic basis. PD is characterized by loss of dopaminergic neurons in the substantia nigra and accumulation of Lewy bodies. While most cases are sporadic, 5-10% of patients carry genetic mutations associated with monogenic forms of PD. Common genes include PARK1, PARK2, PARK8 and SNCA. Genetic susceptibility factors and gene-environment interactions also contribute to sporadic PD risk. Understanding the genetic basis of PD may lead to new targeted therapies.
A comparative study on uroculturome antimicrobial susceptibility in apparentl...Bhoj Raj Singh
The uroculturome indicates the profile of culturable microbes inhabiting the urinary tract, and it is often required to do a urine culture to find an effective antimicrobial to treat UTIs. This study targeted to understand the profile of culturable pathogens in the urine of apparently healthy (128) and humans with clinical UTIs (161). In urine samples from UTI cases, microbial counts were 1.2×104 ± 6.02×103 colony-forming units (cfu)/ mL, while in urine samples from apparently healthy humans, the average count was 3.33± 1.34×103 cfu/ mL. In eight samples (six from UTI cases and two from apparently healthy people) of urine, Candida (C. albicans 3, C. catenulata 1, C. krusei 1, C. tropicalis 1, C. parapsiplosis 1, C. gulliermondii 1) and Rhizopus species (1) were detected. Candida krusei was detected only in a single urine sample from a healthy person and C. albicans was detected both in urine of healthy and clinical UTI cases. Fungal strains were always detected with one or more types of bacteria. Gram-positive bacteria were more commonly (OR, 1.98; CI99, 1.01-3.87) detected in urine samples of apparently healthy humans, and Gram -ve bacteria (OR, 2.74; CI99, 1.44-5.23) in urines of UTI cases. From urine samples of 161 UTI cases, a total of 90 different types of microbes were detected and, 73 samples had only a single type of bacteria. In contrast, 49, 29, 3, 4, 1, and 2 samples had 2, 3, 4, 5, 6 and 7 types of bacteria, respectively. The most common bacteria detected in urine of UTI cases was Escherichia coli detected in 52 samples, in 20 cases as the single type of bacteria, other 34 types of bacteria were detected in pure form in 53 cases. From 128 urine samples of apparently healthy people, 88 types of microbes were detected either singly or in association with others, from 64 urine samples only a single type of bacteria was detected while 34, 13, 3, 11, 2 and 1 samples yielded 2, 3, 4, 5, 6 and seven types of microbes, respectively. In the urine of apparently healthy humans too, E. coli was the most common bacteria, detected in pure culture from 10 samples followed by Staphylococcus haemolyticus (9), S. intermedius (5), and S. aureus (5), and similar types of bacteria also dominated in cases of mixed occurrence, E. coli was detected in 26, S. aureus in 22 and S. haemolyticus in 19 urine samples, respectively. Gram +ve bacteria isolated from urine samples' irrespective of health status were more often (p, <0.01) resistant than Gram -ve bacteria to ajowan oil, holy basil oil, cinnamaldehyde, and cinnamon oil, but more susceptible to sandalwood oil (p, <0.01). However, for antibiotics, Gram +ve were more often susceptible than Gram -ve bacteria to cephalosporins, doxycycline, and nitrofurantoin. The study concludes that to understand the role of good and bad bacteria in the urinary tract microbiome more targeted studies are needed to discern the isolates at the pathotype level.
Causes Of Tooth Loss
PERIODONTAL PROBLEMS ( PERIODONTITIS, GINIGIVITIS)
Systemic Causes Of Tooth Loss
1. Diabetes Mellitus
2. Female Sexual Hormones Condition
3. Hyperpituitarism
4. Hyperthyroidism
5. Primary Hyperparathyroidism
6. Osteoporosis
7. Hypophosphatasia
8. Hypophosphatemia
Causes Of Tooth Loss
CARIES/ TOOTH DECAY
Causes Of Tooth Loss
CAUSES OF TOOTH LOSS
Consequence of tooth loss
Anatomic
Loss of ridge volume both height and width
Bone loss :
mandible > maxilla
Posteriorly > anteriorly
Anatomic consequences
Broader mandibular arch with constricting maxilary arch
Attached gingiva is replaced with less keratinised oral mucosa which is more readily traumatized.
Anatomic consequences
Tipping of the adjacent teeth
Supraeruption of the teeth
Traumatic occlusion
Premature occlusal contact
Anatomic Consequences
Anatomic Consequences
Physiologic consequences
Physiologic Consequences
Decreased lip support
Decreased lower facial height
Physiologic Consequences
Physiologic consequences
Education of Patient
Diagnosis, Treatment Planning, Design, Treatment, Sequencing, and Mouth Preparation
Support for Distal Extension Denture Bases
Establishment and Verification of Occlusal Relations and Tooth Arrangements
Initial Placement Procedures
Periodic Recall
Education of Patient
Informing a patient about a health matter to
secure informed consent.
Patient education should begin at the initial
contact with the patient and should continue throughout treatment.
The dentist and the patient share responsibility for the ultimate success of a removable partial denture.
This educational procedure is especially important when the treatment plan and prognosis are discussed with the patient.
Diagnosis, Treatment Planning, Design, Treatment, Sequencing, and Mouth Preparation
Begin with thorough medical and dental histories.
The complete oral examination must include both clinical and radiographic interpretation of:
caries
the condition of existing restorations
periodontal conditions
responses of teeth (especially abutment teeth) and residual ridges to previous stress
The vitality of remaining teeth
Continued…..
Occlusal plan evaluation
Arch form
Evaluation of Occlusal relationship through mounting the diagnostic cast
The dental cast surveyor is an absolute necessity in which patients are being treated with removable partial dentures.
Mouth preparations, in the appropriate sequence, should be oriented toward the goal of
providing adequate support, stability,
retention, and
a harmonious occlusion for the partial denture.
Support for Distal Extension Denture Bases
A base made to fit the anatomic ridge form does not provide adequate support under occlusal loading.
The base may be made to fit the form of the ridge when under function.
Support for Distal Extension Denture Bases
This provides support
Mainstreaming #CleanLanguage in healthcare.pptxJudy Rees
In healthcare, every day, millions of conversations fail. They fail to cover what’s really important, fail to resolve key issues, miss the point and lead to misunderstandings and disagreements.
Clean Language is one approach that can improve things. It’s a set of precise questions – and a way of asking them – which help us all get clear on what matters, what we’d like to have happen, and what’s needed.
Around 1000 people working in healthcare have trained in Clean Language skills over the past 20+ years. People are using what they’ve learnt, in their own spheres, and share anecdotes of significant successes. But the various local initiatives have not scaled, nor connected with each other, and learning has not been widely shared.
This project, which emerged from work done by the NHS England South-West End-Of-Life Network, with help from the Q Community and especially Hesham Abdalla, aims to fix that.
Ventilation Perfusion Ratio, Physiological dead space and physiological shuntMedicoseAcademics
In this insightful lecture, Dr. Faiza, an esteemed Assistant Professor of Physiology, delves into the essential concept of the ventilation-perfusion ratio (V˙/Q˙), which is fundamental to understanding pulmonary physiology. Dr. Faiza brings a wealth of knowledge and experience to the table, with qualifications including MBBS, FCPS in Physiology, and multiple postgraduate degrees in public health and healthcare education.
The lecture begins by laying the groundwork with basic concepts, explaining the definitions of ventilation (V˙) and perfusion (Q˙), and highlighting the significance of the ventilation-perfusion ratio (V˙/Q˙). Dr. Faiza explains the normal value of this ratio and its critical role in ensuring efficient gas exchange in the lungs.
Next, the discussion moves to the impact of different V˙/Q˙ ratios on alveolar gas concentrations. Participants will learn how a normal, zero, or infinite V˙/Q˙ ratio affects the partial pressures of oxygen and carbon dioxide in the alveoli. Dr. Faiza provides a detailed comparison of alveolar gas concentrations in these varying scenarios, offering a clear understanding of the physiological changes that occur.
The lecture also covers the concepts of physiological shunt and dead space. Dr. Faiza defines physiological shunt and explains its causes and effects on gas exchange, distinguishing it from anatomical dead space. She also discusses physiological dead space in detail, including how it is calculated using the Bohr equation. The components and significance of the Bohr equation are thoroughly explained, and practical examples of its application are provided.
Further, the lecture examines the variations in V˙/Q˙ ratios in different regions of the lung and under different conditions, such as lying versus supine and resting versus exercise. Dr. Faiza analyzes how these variations affect pulmonary function and discusses the abnormal V˙/Q˙ ratios seen in chronic obstructive lung disease (COPD) and their clinical implications.
Finally, Dr. Faiza explores the clinical implications of abnormal V˙/Q˙ ratios. She identifies clinical conditions associated with these abnormalities, such as COPD and emphysema, and discusses the physiological and clinical consequences on respiratory function. The lecture emphasizes the importance of understanding these concepts for medical professionals and students, highlighting their relevance in diagnosing and managing respiratory conditions.
This comprehensive lecture provides valuable insights for medical students, healthcare professionals, and anyone interested in respiratory physiology. Participants will gain a deep understanding of how ventilation and perfusion work together to optimize gas exchange in the lungs and how deviations from the norm can lead to significant clinical issues.
JMML is a rare cancer of blood that affects young children. There is a sustained abnormal and excessive production of myeloid progenitors and monocytes.
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POTENTIAL TARGET DISEASES FOR GENE THERAPY SOURAV.pptxsouravpaul769171
Theoretically, gene therapy is the permanent solution for genetic diseases. But it has several complexities. At its current stage, it is not accessible to most people due to its huge cost. A breakthrough may come anytime and a day may come when almost every disease will have a gene therapy Gene therapy have the potential to revolutionize the practice of medicine.
Pharmacotherapy of Asthma and Chronic Obstructive Pulmonary Disease (COPD)HRITHIK DEY
This PowerPoint presentation provides an in-depth overview of the pharmacotherapy approaches for managing asthma and Chronic Obstructive Pulmonary Disease (COPD). It covers the pathophysiology of these respiratory conditions, the various classes of medications used, their mechanisms of action, indications, side effects, and the latest treatment guidelines. Designed for students, healthcare professionals, and anyone interested in respiratory pharmacology, this presentation offers a comprehensive understanding of current therapeutic strategies and advancements in the field.
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptxAmandaChou9
Seminal vesiculitis can cause jelly-like sperm. Fortunately, herbal medicine Diuretic and Anti-inflammatory Pill can eliminate symptoms and cure the disease.
Chair, Benjamin M. Greenberg, MD, MHS, discusses neuromyelitis optica spectrum disorder in this CME activity titled “Mastering Diagnosis and Navigating the Sea of Targeted Treatments in NMOSD: Practical Guidance on Optimizing Patient Care.” For the full presentation, downloadable Practice Aids, and complete CME information, and to apply for credit, please visit us at https://bit.ly/4av12w4. CME credit will be available until June 27, 2025.
Larry Smarr’s Prostate Cancer Early Detection and Focal Therapy
Bioethics in Genetic Research: Concepts and Applications
1. BIOethics in genetic research:Concepts and applications1Magister of Biomedical Science/ Genetic CounselingFaculty of MedicineDiponegoro University, 2010
3. IntroductionConsequences of advances in genetic research:Large, comprehensive sets of genetic dataNew powerful technologiesEthical, legal and social implications (ELSI)Collins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. 3
4. Societal concernsSome examples:Who should have access to personal genetic information, and how will it be used? How do we prepare the public to make informed consent/ choices?How do we prepare healthcare professionals for the new genetics? 4
5. Responding to genomic advancesWe need to:Understand the consequences of genetic advances in individual and societyEg. Allowing to predict individual “fate”, adapt life plans, intervene Assess how to define the ethical boundaries for uses of genomicsDiscuss science and ethical, legal and social factors of genomic advance to make effective policiesCollins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. 5
6. Focus of moral and bioethical debateRespect for autonomy of individualsAppropriate use? Based on moral, rights, rulesRedefining concept of disease:Focusing not just on clinical symptoms but also on increased risk and consequences of individual and societyPurpose of comprehensive debateDevelop guidelinesStandards for appropriate use of gene technologyBiomedicine should be associated with bio-criticismTen Have HA. Genetic advances require comprehensive bioethical debate.Croat Med J. 2003 Oct;44(5):533-7.6
7. GWASGenome wide association studies (GWAS) seek to establish associations between genomic variants and disease or traits. GWAS provide detailed genotype information at high resolution“Genetic libraries”Information from DNA is a personal identifier and can provide information not just on individual but family and group identity.Data is used multiple times by multiple researchersKaye J, Boddington P, de Vries J, Hawkins N, Melham K. Ethical implications of the use of whole genome methods in medical research. Eur J Hum Genet. 2009 Nov 4. 7
8. Key issues in ethical implications Informed consentIndividuals have knowledge in advance and choose how personal information is usedPotential harm from violation of privacy and misuse of informationData is repeatedly used by multiple researchers, withdrawal from research is difficult and costlyBroad consent? Controversial!Feedback of findingWhen there is serious condition: research team have moral obligation to inform participants8
9. Key issues in ethical implicationsPrivacy of participantsDiagnosis of disease -> family, insurance company, employers?De-identifying is difficult for detailed information!Supervision of researchMost supervision is at national levelenforcement power?9
10. Stem cells? DefinitionStem cells are cells that can divide to produce either cells like themselves (self renewal),or cells of one or several specific differentiated types. OriginAnimal tissues (Xenotransplantation)Adult stem cellsStem cells of foetal originHaematopoetic stem cellsFoetal tissueStem cells of embryonic originiPS10
11. Embryonic Stem CellsEurope: “to ensure adequate protection of the embryo” to prohibit “the creation of human embryos for research purposes”US: Research on human ESC can be if:the cells must be taken from frozen spare embryos from fertility clinics and already destined to be discarded; Federal funds could not be used to destroy the embryos to obtain the cellsChina: Even if just research, a human embryo should not be destroyed at willSingapore: The concerns over sacrificing embryos are not sufficient to outweigh the advantage of pluripotentIndonesia ??11
18. XenotransplantationXenografting and xenotransplantation raise no unique ethical problems as long as the principle of voluntary agreement to treatment is observed. Sale and commercial supply of stem cells should preferably be DISALLOWEDThere is widespread public concern over issues of genetic modification generally. It would be advisable to limit cross-species experimentation except in cases where a clear anticipated benefit is unattainable by other means13
19. Societal ConcernsWho should have access to personal genetic information, and how will it be used?How do we prepare the public to make informed consent/choices?How do we prepare healthcare professionals for the new genetics?
20. Who Should Have Access to Personal Genetic Information, and How Will It Be Used?1. Researchers have an obligation to protect the confidentiality of genetic information.a.Universal Declaration on the Human Genome and Human Rights of the UNESCO (1997) : “Genetic data associated with an identifiable person and stored or processed for the purposes of research or any other purpose must be held confidential in the conditions set by law.”
21. b. WHO (1998) : “Genetic data is only used to advantage and empower an individual or family, and for better treatment or prevention of disease.”c. Human Genetic Commission (2002) : “Private genetic information should generally not be obtained, held or communicated without the free and informed consent of the individual.”
22. 3. Human genetic research is not conducted with the aim of providing research participants with specific information about their genetic status or health.4. A difficult situation may arise when an individual refuses to disclose a test result which may be medically beneficial to a genetic relative. e.g high risk of developing ca colon
23. 5. Genetic Information Nondiscrimination Act (US,2008):a. prohibits US insurance companies and employers from discriminating on the basis of information derived from genetic test.b. Insurers and employers are not allowed under the law to request or demand a genetic test
24. 5.Exceptional conditions when genetic information may be disclosed despite the individual’s right to confidentiality.NMEC of Singapore (2001) : separate efforts by 2 physicians have failed, despite patient fully understanding
26. The harm that individual would suffer would be serious
27. Only the genetic information needed for diagnosis &/ treatment of the diseaseHow Do We Prepare The Public to Make Informed Consent/Choices?1. Researchers should provide research participants with sufficient information in an understandable form to make an informed decision (purpose, benefits, why he/she, procedure, risks, etc).2. If the research involves the use of stored tissue samples or genetic information, consent is required from the person from whom the tissue was derived or to whom the information relates. 3. Tissue donors should be free to choose between making a general gift or restricted gift
28. 4. Participation in genetic research is voluntary. Researchers need to seek the informed consent of prospective research participants, whether or not they are also patients :An attending physician is also the researcher
31. Children -> their informed consent from parentsHow Do We Prepare Healthcare Professionals for The New Genetics? It is hoped that human genetic research will enable or facilitate the development of new or more reliable ways of diagnosing, preventing and treating genetic disorders effectively.Education of doctors and other health service providers, patients, and the general public in genetic capabilities, scientific limitations & social risksHelp doctors catch problems early, perhaps leading to preventive treatment and lower costs
32. ReferencesCollins FS, Green ED, Guttmacher AE, Guyer MS; US National Human Genome Research Institute. A vision for the future of genomics research. Nature. 2003 Apr 24;422(6934):835-47. Kaye J, Boddington P, de Vries J, Hawkins N, Melham K. Ethical implications of the use of whole genome methods in medical research. Eur J Hum Genet. 2009 Nov 4. Ten Have HA. Genetic advances require comprehensive bioethical debate. Croat Med J. 2003 Oct;44(5):533-7.The Bioethics Advisory Committee of Singapore. Genetic Testing and Genetic Research. 2005. The Ethical, Legal and Social Implications (ELSI) Research Program. http://www.genome.gov/10001618U.S. Department of Energy Office of Science, Office of Biological and Environmental Research, Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml23
Editor's Notes
Sebuahartikeldijurnal Nature tahun 2003 menggambarkankemajuanpenelitiangenomdanberbagaikonsekuensi-nyadimasadepan
Berikutberbagaipertanyaanataukekhawatiran yang timbuldimasyarakatakibatperkembanganteknologigenom
Kita harus:MemahamikonsekuensiperkembanganpenelitiangenomikterhadapindividudanmasyarakatMemberikanbatasanetikdalammenggunakantekonologigenomikDiskusiantarberbagaipihakuntukmembahasfaktoretik, sosialdanhukum, danselanjutnyadapatmenerapkankebijakan-kebijakanyang sesuaidalampenelitiandanpenggunaanteknologigenomik.
Artikel yang ditulis Ten Have menggambarkanFokuspadaperdebatan moral danbioetik:PenghargaanterhadapotonomiindividuApakahteknologiinidigunakandengantepat? Dgnpertimbangan moral, hak-hakdasarmanusiadanperaturan yang adaPerlunyamendefinisiulangkonseppenyakit: Bukanhanyagejalaklinistapijugameningkatnyarisikoutkmengalamipenyakittsb yang ditentukanoleh genotype seseorangPerluadanyadiskusimengenai moral danetik, untukmengembangkansuatu guideline/standardlmpemanfaatanteknologitsbPerkembanganilmubiomedikdanaplikasinyaharusselaludirespondengan bio-criticism (terhadapindividu, masyarakat, aspeketik, hukumdansosial)
Sebagaiilustrasi, salahsatupenelitian yang paling cepatdlmgenomikadalah GWAS, yaitu…GWAS menyediakaninformasi DNA ygsgt detail danspesifikuntuksetiapindividuygmenjadi participant dlmrisetInformasi DNA inimerupakan “personal identifier”, menggambarkanindividu, keluargadanidentitaskelompokPenelitianiniberusahamengumpulkansebanyakmungkinsampel, melibatkankolaborasibanyaknegara, dimanahasilnyadisimpandlmsuatu database internasional yang dapatdiaksesdandigunakan berkali2 olehbanyakpenelitiutkberbagaipenelitianygberbeda Hal2 inikemudianmenimbulkanberbagai “permasalahanetik”….
3. PrivasiSiapa yang berhakmengetahuihasil genetic testing? Keluarga? Perusahaan asuransi? Perusahaan tempatseseorangbekerja (misalnyasebagai screening penerimaanpegawai)? De-identifying sulituntuk data genetik yang sangat detail dan personal sifatnya4. SupervisipenelitianKebanyakanpadatingkatnasionalApakahmemilikiotoritas?
Adult stem cells progenitor and multipotent stem cells are present in adults.Mammals appear to contain some 20 major types of somatic stem cells that cangenerate liver, pancreas, bone and cartilage but they are rather difficult to find andisolate. For instance, access to neural stem cells is limited since they are locatedin the brain. Haematopoietic stem cells are present in the blood, but theirharvesting requires stimulatory treatment of the donor’s bone marrow. By andlarge, adult stem cells are rare and do not have the same developmental potentialas embryonic orfoetal stem cellsStem cells of foetal origin-Haematopoietic stem cells can be retrieved from the umbilical cord blood.- Foetal tissue obtained after pregnancy termination can be used to derivemultipotent stem cells like neural stem cells which can be isolated from foetalneural tissue and multiplied in culture, though they have a limited life span.Foetal tissue can also give rise to pluripotent EG cells isolated from theprimordial germ cells of the foetus.Stem cells of embryonic originPluripotent ES cells are those which are derivedfrom an embryo at the blastocyst stage. Embryos could be produced either by LQYLWURfertilisation (IVF) or by transfer of an adult nucleus to an enucleated egg cellor oocyte (somatic cell nuclear transfer – SCNT).
“to ensure adequate protection of the embryo”, that is to say to adopt a legislation fixing the conditions and limits of such research; Ireland ”unborn” has right equal to motherNo legislation on embryo research exists (Belgium, Netherland, Portugal, Italy)Legislation that prohibits any kind of embrio research (Austria, Germany) or authorization with specified condition (Finland, Spain, Sweden, France and UK)
Free and informed consentFree and informed consent is required not only from the donor but also fromthe recipient as stated in the Group's opinion on Human Tissue Banking(21/07/1998). In each case, it is necessary to inform the donor (the woman orthe couple) of the possible use of the embryonal cells for the specific purposein question before requesting consent.Risk and BenefitRisk-benefit assessment is crucial in stem cell research, as in any research, butis more difficult as the uncertainties are considerable given the gaps in ourknowledge. Attempts to minimise the risks and increase the benefits shouldinclude optimising the strategies for safety. It is not enough to test the culturedstem cells or tissues derived from them for bacteria, viruses or toxicity. Safetyand security aspects are of utmost importance in the transplantation ofgenetically modified cells and when stem cells are derived from somatic cells.For example, the risks that transplanted stem cells cause abnormalities orinduce creation of tumours or cancer have to be assessed. It is important thatthe potential benefits for the patients should be taken into account but notexaggerated. The grounds of a precautionary approach need to be taken intoaccount.Protection of health of persons involved in clinical trialsThe possibility that irreversible and potentially harmful changes are introducedin clinical applications of stem cell research should be minimised. Techniquesenhancing the possibilities of reversibility should be used whenever possible.If, for example, genetically modified cells were encapsulated when they aretransplanted in order to stimulate neural cell growth, it should be possible forthe procedure to be reversed if something goes wrongAnonymity of the donation"in the interests of anonymity, it isprohibited to disclose information that could identify the donor, and therecipient. In general, the donor should not know the identity of the recipient,nor should the recipient know the identity of the donor".Prohibition of commerce in embryos and cadaveric foetal issues The potential for coercive pressure should not be underestimated when thereare financial incentives. Embryos as well as cadaveric foetal tissue must not bebought or sold not even offered for sale. Measures should be taken to preventsuch commercialisation
Kamiakanmenjelaskantentangpermasalahan-permasalahan yang dapatmunculdidalammasyarakat yang berhubungandenganetikadarisuatupenelitiangenetikadanjugasedikitdaripemeriksaangenetikapadaorangdiduga/dengankelainangenetika, antara lainSiapasaja yang dapatmengetahuihasilpemeriksaan/penelitiangenetikapadaseseorangdanuntuktujuanapamerekaharusmengetahuinya?Bagaimanakitamempersiapkanmasyarakatuntukmemberikanpilihan/ inform consent dalampemeriksaan/penelitiangenetik?Bagaimanakitamempersiapkandirimengikutiperkembanganteknologikedokteran yang pesattermasukdibidanggenetika?
Siapa saja yang dapat mengetahui hasil dari pemeriksaan/penelitian genetik sesorang?Peneliti wajib untuk melindungi privasi/rahasia dari subyek penelitian serta keluarganya mengenai informasi genetika yang didapat dari penelitian. Hal ini telah diatur dalam : A. Un Decl on the Human Genome & human rights of the unesco (1997): Data genetik berhubungan dengan seseorang dan yang disimpan atau diproses untuk tujuan penelitian harus dijaga kerahasiannya dan telah diatur dlam UU.
b. WHO pada tahun 1998 menyatakan bahwa data genetik hanya digunakan untuk dimanfaatkan oleh pasien dan keluarga dan untuk mendapatkan terapi yang lebih baik dan pencegahan penyakit.c. HGC (2002) menyatakan bahwa informasi genetik pribadi tidak boleh di………..tanpa ijin dan inform consent pasien.
3. Penelitian genetika pd manusia tidak dilakukan dengan tujuan untuk memberikan informasi yang spesifik tentang status genetika dan keshatan pada subyek penelitian karena informasi yg didapat dari penelitian ini masih belum tentu benar/belum diketahui.sehingga perlu dihindari penyampaian informasi yang belum final dari penelitian ini kpd pasien. 4. Situasi yang sulit muncul saat suatu individu menolak untuk membuka hasik pxnya yang seharusnya dapt memberikan info bermanfaat pada anggota keluarga lain. Namun bila tidak menghormati keputusan pasien, dapat bertentangan dengan rahasia pasien dan melanggar informed consent yaitu membuka hasil test pada pihak ketiga. Maka bagaimanapun kita harus menghormati keputusan pasien dengan tidak membuka pada org lain tanpa consent. Namun kita harus menjelaskan secara jelas kepada pasien mengenai dampak positif dan negatif bila tidak menginformasikan hasil pemeriksaan tersebut, walupun keputusan akhir tetep di pihak pasien.
GINA melarang perusahaan asuransi dan pemberi kerja,mendiskriminasi sesorang berdasarkan informasi pemeriksaan genetik. Contoh : perusahaan asuransi mengurangi biaya asuransi atau meninggikan premi atau pada perusahaan pemberi kerja yaitu dengan memberikan keputusan2 yang merugikan kepada pekerja hanya berdasarkan pada pemeriksaan genetik seseorang. Perusahaan asuransi dan pemberi kerja secara hukum tidak diperbolehkan untuk meminta dilakukannya pemeriksaan genetik pada seseorangSehingga ssorang saat ini bebas untuk melakukan px genetik untuk bbrp pykt tanpa khawatir akan berpengaruh pada pekerjaan atau asuransi kesehatannya.
Kondisiperkecualiansaatinformasigenetikharusdisampaikankpd org lain walupunhalinitdksesuaidenganhakprivasisesorangContoh : kondisi yang membahayakanpadapihakketigadapatdihindaribila info gen disampaikanNational Medical Ethics Committee diSingapuramenyatakanbahwainformasigenetiksesorangdapatdiberikankepadapihak lain bilatelahterdapatpenjelasandari 2 orangklinisi/dokter yang berbedamengenaiakibatbila info gen tetapdirhasikanwalupunpasientelahpahamakanhalini; kemungkinanbesarakibat yang berbaayadapatterjadipadaorang lain maupunmasybila info gen tetapdirahasiakan, bahaya yang mungkintimbuldapatserius, namunhanya info gen ysngberhubungandengandxdanrxpyktsaja yang dibutuhkan
Bagaimana kita mempersiapkan masyarakat untuk memberikan pilihan/ inform consent dalam pemeriksaan/penelitian genetik?Peneliti harus memberikan informasi yang jelas kepada subyek penelitian agar mereka yakin akan pilihannya utk bersedia ikut penelitian ini/tidak (contoh sperti yg telah dijelaskan oleh Prof. Tjahjono kul lalu, dalam inform consent harus dijelaskan mengenai tujuan, menfaat, knp mereka dipilih, prosedur , resiko, dll)Bila penelitian menggunakan sampel jaringan atau info gen yang telah tersedia, consent tetap diperlukan dari orang yang telah diambil jaringannta tsb. 3. Pendonor jaringan bebas utk memilih apakah jaringannya boleh digunakan utk semua jenis penelitian atau hanya tertentu saja.
Keikutsertaan subyek dalam penelitian merupakan sukarela. Peneliti harus mendapatkan inf consent dari subyek penelitian, baik mereka pasien atau bukan:1.Bila seorang klinisi juga seorang peneliti maka dibutuhkan consent yang terpisah dan sebaiknya diambil oleh pihak ketiga untuk mencegah konflik kepentingan dan untuk meyakinkan bahwa kesediaan pasien benar2 sukarela2. Bila sampel jaringan yang digunakan utk kepentingan klinis digunakan juga utk penelitian, maka inf cons jg dibutuhkan.3. Consent jg dibutuhkan bila sampel akan disimpan utk penelitiann mendatang4.Bila subyek penelitian adlah anak2 maka inf cons ddpatkn dari ortu
Bagaimanakitamempersiapkandirimengikutiperkembanganteknologikedokteran yang pesattermasukdibidanggenetika?Penelitian gen padamnsdiharapkandapatmenghasilkancara-carabarudalammendiagnosis, mencegahdanmengobatikelainangenetiksecaraefektifDiperlukanEdukasikepadadrdantenagakesh lain, pasiendanmasyumumdalamhalpxgenetik yang bisadilakukan, keterbatasannyadanresiko yang dapatmunculSehingganantinyadapatmembantudokterutkdptmengetahuilbhawalpermasalahanygtjdpadapasien, danmungkindapatdilakukanterapipencegahandanbiayabisalebihrendah