This document discusses polygenic disorders and recent research findings related to them. A key finding is that thousands of genes can influence most common diseases, not just a few core genes as previously thought. Researchers now believe that virtually any gene can have some effect on a disease, either directly or indirectly. This omnigenic model could help expand the targets for new medicines to treat disease. The document also discusses a study that found nearly 50% of differences in children's social mobility are due to genetic factors, not just their family's socioeconomic status.
The document discusses research into polygenic disorders and the influence of thousands of genes on most common diseases. Researchers previously thought that disease genes were clustered in specific molecular pathways, but they now believe that disease genes are spread uniformly across the genome and that virtually any gene can influence a disease. This omnigenic model of polygenic traits suggests that while a few core genes have direct effects, thousands of peripheral genes also have indirect effects. Understanding this could help expand treatment options and personalized medicine approaches. The document also discusses research finding that nearly 50% of differences in children's social mobility are due to genetic factors, not just their family's socioeconomic status.
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 summarizes and reviews several studies that investigated the potential association between autism spectrum disorders (ASD) and socioeconomic status. The review found inconsistent results across studies, with some finding a higher prevalence of ASD among higher social classes and others finding no association. The review concludes that there is likely no consistent association between social class and ASD, though parental education level may be more closely associated with ASD than median family income alone. Ascertainment methods, small sample sizes, and variability in case definitions across studies make drawing definitive conclusions difficult.
This document summarizes a research proposal that aims to test the hypothesis that childhood vaccinations cause autism. The study would examine mercury levels in the urine of children at different age groups and time intervals following the MMR vaccination, to determine if higher mercury is associated with autism. The proposal provides background on autism rates increasing, the discredited Wakefield study linking MMR and autism, and reviews previous studies on thimerosal and mercury that both support and contradict the hypothesized link to vaccinations. The proposed methodology would collect urine samples from 18 children divided into age groups around the time of first MMR vaccination, to measure mercury levels at different time points following vaccination.
ELSI is an acronym for Ethical, Legal, and Social Issues including all non-technical issues that arise when developing emerging science and technologies and implementing them in society. It is briefly discussed in the ppt.
Researchers have identified single-gene mutations that can cause atopic dermatitis. They analyzed the genetic sequences of patients with severe atopic dermatitis and identified mutations in the CARD11 gene in individuals from four families. The mutations affected T-cell signaling pathways in a way that contributed to atopic dermatitis. Growing the patients' T-cells with supplemental glutamine and leucine helped partially correct the cell signaling defects. Children with fragile X syndrome show a greater bias toward threatening emotions than positive emotions compared to typically developing children. This finding provides a target for treating anxiety in fragile X syndrome through modifying attention bias toward positive emotions. Knowing the specific genetic mutations responsible for diseases allows for better treatment and management of associated medical
The document discusses polygenic disorders, which are genetic disorders caused by more than one gene and influenced by environmental factors. They are difficult to study due to genetic variability. Two specific polygenic disorders discussed are Alzheimer's disease and diabetes/hypertension. For Alzheimer's, researchers are searching for biomarkers to detect the disease early before symptoms appear. For diabetes/hypertension, a study found that immune cells called eosinophils play an important role in regulating blood vessel function and their absence contributes to these conditions. Identifying the genetic factors for these disorders may help develop preventative measures and treatments to improve patient outcomes and quality of life.
The document discusses research into polygenic disorders and the influence of thousands of genes on most common diseases. Researchers previously thought that disease genes were clustered in specific molecular pathways, but they now believe that disease genes are spread uniformly across the genome and that virtually any gene can influence a disease. This omnigenic model of polygenic traits suggests that while a few core genes have direct effects, thousands of peripheral genes also have indirect effects. Understanding this could help expand treatment options and personalized medicine approaches. The document also discusses research finding that nearly 50% of differences in children's social mobility are due to genetic factors, not just their family's socioeconomic status.
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 summarizes and reviews several studies that investigated the potential association between autism spectrum disorders (ASD) and socioeconomic status. The review found inconsistent results across studies, with some finding a higher prevalence of ASD among higher social classes and others finding no association. The review concludes that there is likely no consistent association between social class and ASD, though parental education level may be more closely associated with ASD than median family income alone. Ascertainment methods, small sample sizes, and variability in case definitions across studies make drawing definitive conclusions difficult.
This document summarizes a research proposal that aims to test the hypothesis that childhood vaccinations cause autism. The study would examine mercury levels in the urine of children at different age groups and time intervals following the MMR vaccination, to determine if higher mercury is associated with autism. The proposal provides background on autism rates increasing, the discredited Wakefield study linking MMR and autism, and reviews previous studies on thimerosal and mercury that both support and contradict the hypothesized link to vaccinations. The proposed methodology would collect urine samples from 18 children divided into age groups around the time of first MMR vaccination, to measure mercury levels at different time points following vaccination.
ELSI is an acronym for Ethical, Legal, and Social Issues including all non-technical issues that arise when developing emerging science and technologies and implementing them in society. It is briefly discussed in the ppt.
Researchers have identified single-gene mutations that can cause atopic dermatitis. They analyzed the genetic sequences of patients with severe atopic dermatitis and identified mutations in the CARD11 gene in individuals from four families. The mutations affected T-cell signaling pathways in a way that contributed to atopic dermatitis. Growing the patients' T-cells with supplemental glutamine and leucine helped partially correct the cell signaling defects. Children with fragile X syndrome show a greater bias toward threatening emotions than positive emotions compared to typically developing children. This finding provides a target for treating anxiety in fragile X syndrome through modifying attention bias toward positive emotions. Knowing the specific genetic mutations responsible for diseases allows for better treatment and management of associated medical
The document discusses polygenic disorders, which are genetic disorders caused by more than one gene and influenced by environmental factors. They are difficult to study due to genetic variability. Two specific polygenic disorders discussed are Alzheimer's disease and diabetes/hypertension. For Alzheimer's, researchers are searching for biomarkers to detect the disease early before symptoms appear. For diabetes/hypertension, a study found that immune cells called eosinophils play an important role in regulating blood vessel function and their absence contributes to these conditions. Identifying the genetic factors for these disorders may help develop preventative measures and treatments to improve patient outcomes and quality of life.
Protein ZEB1 and resistance to radiation therapy, and antibodies to damage lungsgaganv95
The document discusses two studies related to protein interactions that influence disease resistance and treatment outcomes. One study found that the ZEB1 protein can promote breast tumor resistance to radiation therapy by activating DNA damage response pathways. The other found that a type of antibody, IgG2, can allow lung-damaging bacteria to evade destruction by preventing complement protein formation on the bacteria's surface. Both studies provide insight into new treatment resistance mechanisms and potential targets for developing improved therapies.
Genetic testing analyzes an individual's DNA to identify genotypes and genetic disorders or conditions. It is used diagnostically and for non-medical purposes like forensics. The Human Genome Project mapped all human genes to advance research. Genetic testing can identify hereditary health risks but results are estimates and lifestyle factors also influence health outcomes. While testing provides information, it can also psychologically burden those who see their genes as deterministic of health without considering environmental influences. New research shows epigenetics, beliefs, and lifestyle can influence gene expression beyond what genetic testing indicates.
Judy Starts to Cross the Autoimmune AbyssDrBonnie360
Content and Visual Design by Tiffany Simms
Bringing the Lonely Voices of Autoimmune Disease back to Stanford Medicine X 2015, DrBonnie360 describes an autoimmune journey through Judy's Story.
Judy finds hope in patient power, new data sharing and collaboration, and turning data into insights.
This document discusses two studies on analyzing DNA variations to predict disease outcomes and develop new treatments. The first study found that a new biomarker called cMethDNA detected in blood samples could predict the survival of women with advanced breast cancer within 4 weeks of treatment. The second study identified DNA variations associated with inflammatory cytokines and found an existing drug may treat multiple sclerosis and Crohn's disease. Both studies demonstrated how analyzing genetic variations could help customize treatment approaches for patients.
Edward B. Siwak's curriculum vitae provides information about his education and professional experience. He received a Bachelor of Science in Biology from Indiana University of Pennsylvania in 1972, a Master of Science in Epidemiology from the University of Hawaii at Manoa in 1982, and a Doctor of Philosophy in Microbiology from the University of Hawaii at Manoa in 1990. Since 2002, he has worked as an Assistant Professor in the Division of Molecular Virology and Microbiology at Baylor College of Medicine in Houston, Texas.
The document discusses several ways in which the discovery of DNA has had important impacts. It allows for earlier disease diagnosis and assessment of genetic susceptibility, enabling customized treatment approaches. DNA analysis can also identify genetic disorders in developing fetuses or from cheek cells. Determining paternity through DNA analysis significantly impacts families and children. DNA evidence has revolutionized forensics science by enabling identification of perpetrators and victims. In agriculture, DNA insights facilitate breeding of disease-resistant animals and more nutritious crops. The impacts of DNA discovery continue across medicine, agriculture, forensics and beyond.
Gene therapy biology - sample paper - essayAssignment Lab
Gene therapy can treat genetic disorders by replacing a mutated gene that causes disease with a healthy copy of the gene. Viruses are often used as vehicles to deliver replacement genes into cells, but they can cause immune reactions. Liposomes are now seen as a better alternative as they can carry genes into cells without immune responses. Gene therapy aims to cure monogenic recessive disorders by adding a missing healthy gene, while dominant disorders may be treated through RNA interference to silence mutated genes.
ECD III - Boehm (online) - Nutrition Science 062416Tobias Boehm
This document provides an overview of nutrition science as it relates to dentistry. It begins by discussing a historical account of sailors developing severe oral disease due to malnutrition during long voyages. It then reviews key scientific concepts like levels of evidence, study designs, and statistical terms. The main body discusses macronutrients like carbohydrates, proteins, and lipids. Carbohydrates are the primary energy source and discussed in detail. Proteins and lipids are also reviewed in terms of their purposes and health effects.
The document discusses recent discoveries about how cells regulate genes through epigenetic processes like histone modification and DNA methylation. Specifically, it summarizes two articles about new findings: 1) histone methylation allows genes to be silenced, preventing potential diseases, and 2) epigenetic changes cause cellular changes related to cancer, suggesting epigenetics-based drugs could treat cancers like leukemia. The student observes that understanding how epigenetics influences gene expression could help develop new treatments for diseases by manipulating histones or other epigenetic markers.
The document provides a curriculum vitae for Rudy Bueno Jr., Ph.D., a public health entomologist. It outlines his education, including a B.S. from University of Texas at El Paso, M.S. from University of Texas at El Paso, and Ph.D. from Texas A&M University. It also lists his professional experience in public health entomology, adjunct faculty positions, and publications and committee experience.
This study found that exposure to certain pesticides increases the risk of Parkinson's disease. Researchers studied people who lived or worked near fields sprayed with pesticides maneb, paraquat, and ziram in California's Central Valley. They found that exposure to all three pesticides near a workplace tripled the risk of Parkinson's, while exposure to ziram and paraquat alone raised risk by 80%. Previous studies also linked the first two pesticides to higher Parkinson's risk. This research provides more evidence that long-term, low-level exposure to multiple pesticides can significantly increase chances of developing the neurodegenerative disorder.
Genetic Mapping & its applications in different field of sciencehabibullah181
Genetic mapping is used to determine the location of genes on chromosomes and the distance between genes. It provides evidence that conditions passed down from parents to children are linked to specific genes. Genetic maps have been used to identify genes responsible for single-gene disorders and complex diseases. Applications of genetic mapping include medical diagnosis and treatment, agriculture, energy/environment, and forensics. While it provides advantages like disease risk assessment and personalized medicine, genetic mapping also has disadvantages such as expense and religious objections.
Adler migge genetics research march 13-templateMorganScience
This document discusses genetic modification of foods and the implications. It begins with an overview of genetics principles like heredity, traits, and Punnett squares. It then discusses the Human Genome Project which sought to map all human genes. The project had implications for genetic screening, privacy, and potential discrimination. The document also discusses types of genetic disorders like single gene, chromosomal abnormalities, and multifactorial disorders. It provides examples like cystic fibrosis. Finally, it presents arguments for and against genetically modifying foods, noting concerns about allergic reactions, health risks, and dangers of unknown changes to molecular structures in foods.
This document discusses the paradigm shifts occurring in medicine from omics to precision and system medicine. It notes that traditional medical research focused on the average patient but not differences between individuals. New approaches use large datasets incorporating genetic, clinical, and lifestyle factors to better predict health outcomes for each individual. This enables a shift to precision and system medicine considering an individual's unique biological, psychological and environmental characteristics. The goal is moving beyond a "one-size-fits-all" approach to improve health outcomes.
The document discusses genetic engineering and its potential benefits and risks. It provides examples of how genetic engineering has helped treat Parkinson's disease, breast cancer, and diabetes by identifying genes associated with these diseases. While research has potential to cure illnesses, it also raises ethical issues regarding who has access to treatments and how genetic information is used. The conclusion argues that further funding genetic research could help eliminate diseases, but personal genetic data should remain private.
The document is a resume for Ari Gilad Mandler that outlines his education, clinical and laboratory experience, honors, and extracurricular activities. It shows that he attends the University of Maryland where he majors in Neurobiology and Physiology with a 3.972 GPA. His clinical experiences include working as a medical scribe at Suburban Hospital and providing Spanish translation at Holy Cross Health Hospital. He has also conducted research investigating cell apoptosis inhibition in tuberculosis at UMD and prion disease propagation at Northwestern.
Genomics is the study of the structure and action of the genome, i.e. the sum total of genetic material present in an organism. Genetics is the study of heredity and of the mechanisms by which genetic factors are transmitted from one generation to the next.
Biology and medicine have a close relationship where biology serves as an important tool for medicine. Studies on cellular metabolism and the role of proteins in cell division have helped further our understanding of diseases from the beginning. Research on a single protein that controls genetic networks essential for sperm development found that without this protein, sperm development is abnormal. A separate study on mitochondrial diseases found they are becoming more frequent and costly to healthcare systems, highlighting the need for improved prevention and treatment strategies. Advances in understanding basic biological mechanisms allow for more effective diagnosis and management of illnesses.
This document discusses gene therapy and genetic engineering. It distinguishes between gene therapy, which aims to treat disease by replacing mutated genes, and genetic enhancement, which aims to modify humans in a way that goes beyond curing illness or disability. While gene therapy seeks to cure disease and is considered acceptable, genetic enhancement that modifies humans to make them "super human" raises ethical issues and is generally not supported by the Catholic Church. The key distinction is that gene therapy should be therapeutic and only done to promote health, while genetic enhancement goes beyond therapy and could worsen conditions or unfairly advantage some individuals.
Protein ZEB1 and resistance to radiation therapy, and antibodies to damage lungsgaganv95
The document discusses two studies related to protein interactions that influence disease resistance and treatment outcomes. One study found that the ZEB1 protein can promote breast tumor resistance to radiation therapy by activating DNA damage response pathways. The other found that a type of antibody, IgG2, can allow lung-damaging bacteria to evade destruction by preventing complement protein formation on the bacteria's surface. Both studies provide insight into new treatment resistance mechanisms and potential targets for developing improved therapies.
Genetic testing analyzes an individual's DNA to identify genotypes and genetic disorders or conditions. It is used diagnostically and for non-medical purposes like forensics. The Human Genome Project mapped all human genes to advance research. Genetic testing can identify hereditary health risks but results are estimates and lifestyle factors also influence health outcomes. While testing provides information, it can also psychologically burden those who see their genes as deterministic of health without considering environmental influences. New research shows epigenetics, beliefs, and lifestyle can influence gene expression beyond what genetic testing indicates.
Judy Starts to Cross the Autoimmune AbyssDrBonnie360
Content and Visual Design by Tiffany Simms
Bringing the Lonely Voices of Autoimmune Disease back to Stanford Medicine X 2015, DrBonnie360 describes an autoimmune journey through Judy's Story.
Judy finds hope in patient power, new data sharing and collaboration, and turning data into insights.
This document discusses two studies on analyzing DNA variations to predict disease outcomes and develop new treatments. The first study found that a new biomarker called cMethDNA detected in blood samples could predict the survival of women with advanced breast cancer within 4 weeks of treatment. The second study identified DNA variations associated with inflammatory cytokines and found an existing drug may treat multiple sclerosis and Crohn's disease. Both studies demonstrated how analyzing genetic variations could help customize treatment approaches for patients.
Edward B. Siwak's curriculum vitae provides information about his education and professional experience. He received a Bachelor of Science in Biology from Indiana University of Pennsylvania in 1972, a Master of Science in Epidemiology from the University of Hawaii at Manoa in 1982, and a Doctor of Philosophy in Microbiology from the University of Hawaii at Manoa in 1990. Since 2002, he has worked as an Assistant Professor in the Division of Molecular Virology and Microbiology at Baylor College of Medicine in Houston, Texas.
The document discusses several ways in which the discovery of DNA has had important impacts. It allows for earlier disease diagnosis and assessment of genetic susceptibility, enabling customized treatment approaches. DNA analysis can also identify genetic disorders in developing fetuses or from cheek cells. Determining paternity through DNA analysis significantly impacts families and children. DNA evidence has revolutionized forensics science by enabling identification of perpetrators and victims. In agriculture, DNA insights facilitate breeding of disease-resistant animals and more nutritious crops. The impacts of DNA discovery continue across medicine, agriculture, forensics and beyond.
Gene therapy biology - sample paper - essayAssignment Lab
Gene therapy can treat genetic disorders by replacing a mutated gene that causes disease with a healthy copy of the gene. Viruses are often used as vehicles to deliver replacement genes into cells, but they can cause immune reactions. Liposomes are now seen as a better alternative as they can carry genes into cells without immune responses. Gene therapy aims to cure monogenic recessive disorders by adding a missing healthy gene, while dominant disorders may be treated through RNA interference to silence mutated genes.
ECD III - Boehm (online) - Nutrition Science 062416Tobias Boehm
This document provides an overview of nutrition science as it relates to dentistry. It begins by discussing a historical account of sailors developing severe oral disease due to malnutrition during long voyages. It then reviews key scientific concepts like levels of evidence, study designs, and statistical terms. The main body discusses macronutrients like carbohydrates, proteins, and lipids. Carbohydrates are the primary energy source and discussed in detail. Proteins and lipids are also reviewed in terms of their purposes and health effects.
The document discusses recent discoveries about how cells regulate genes through epigenetic processes like histone modification and DNA methylation. Specifically, it summarizes two articles about new findings: 1) histone methylation allows genes to be silenced, preventing potential diseases, and 2) epigenetic changes cause cellular changes related to cancer, suggesting epigenetics-based drugs could treat cancers like leukemia. The student observes that understanding how epigenetics influences gene expression could help develop new treatments for diseases by manipulating histones or other epigenetic markers.
The document provides a curriculum vitae for Rudy Bueno Jr., Ph.D., a public health entomologist. It outlines his education, including a B.S. from University of Texas at El Paso, M.S. from University of Texas at El Paso, and Ph.D. from Texas A&M University. It also lists his professional experience in public health entomology, adjunct faculty positions, and publications and committee experience.
This study found that exposure to certain pesticides increases the risk of Parkinson's disease. Researchers studied people who lived or worked near fields sprayed with pesticides maneb, paraquat, and ziram in California's Central Valley. They found that exposure to all three pesticides near a workplace tripled the risk of Parkinson's, while exposure to ziram and paraquat alone raised risk by 80%. Previous studies also linked the first two pesticides to higher Parkinson's risk. This research provides more evidence that long-term, low-level exposure to multiple pesticides can significantly increase chances of developing the neurodegenerative disorder.
Genetic Mapping & its applications in different field of sciencehabibullah181
Genetic mapping is used to determine the location of genes on chromosomes and the distance between genes. It provides evidence that conditions passed down from parents to children are linked to specific genes. Genetic maps have been used to identify genes responsible for single-gene disorders and complex diseases. Applications of genetic mapping include medical diagnosis and treatment, agriculture, energy/environment, and forensics. While it provides advantages like disease risk assessment and personalized medicine, genetic mapping also has disadvantages such as expense and religious objections.
Adler migge genetics research march 13-templateMorganScience
This document discusses genetic modification of foods and the implications. It begins with an overview of genetics principles like heredity, traits, and Punnett squares. It then discusses the Human Genome Project which sought to map all human genes. The project had implications for genetic screening, privacy, and potential discrimination. The document also discusses types of genetic disorders like single gene, chromosomal abnormalities, and multifactorial disorders. It provides examples like cystic fibrosis. Finally, it presents arguments for and against genetically modifying foods, noting concerns about allergic reactions, health risks, and dangers of unknown changes to molecular structures in foods.
This document discusses the paradigm shifts occurring in medicine from omics to precision and system medicine. It notes that traditional medical research focused on the average patient but not differences between individuals. New approaches use large datasets incorporating genetic, clinical, and lifestyle factors to better predict health outcomes for each individual. This enables a shift to precision and system medicine considering an individual's unique biological, psychological and environmental characteristics. The goal is moving beyond a "one-size-fits-all" approach to improve health outcomes.
The document discusses genetic engineering and its potential benefits and risks. It provides examples of how genetic engineering has helped treat Parkinson's disease, breast cancer, and diabetes by identifying genes associated with these diseases. While research has potential to cure illnesses, it also raises ethical issues regarding who has access to treatments and how genetic information is used. The conclusion argues that further funding genetic research could help eliminate diseases, but personal genetic data should remain private.
The document is a resume for Ari Gilad Mandler that outlines his education, clinical and laboratory experience, honors, and extracurricular activities. It shows that he attends the University of Maryland where he majors in Neurobiology and Physiology with a 3.972 GPA. His clinical experiences include working as a medical scribe at Suburban Hospital and providing Spanish translation at Holy Cross Health Hospital. He has also conducted research investigating cell apoptosis inhibition in tuberculosis at UMD and prion disease propagation at Northwestern.
Genomics is the study of the structure and action of the genome, i.e. the sum total of genetic material present in an organism. Genetics is the study of heredity and of the mechanisms by which genetic factors are transmitted from one generation to the next.
Biology and medicine have a close relationship where biology serves as an important tool for medicine. Studies on cellular metabolism and the role of proteins in cell division have helped further our understanding of diseases from the beginning. Research on a single protein that controls genetic networks essential for sperm development found that without this protein, sperm development is abnormal. A separate study on mitochondrial diseases found they are becoming more frequent and costly to healthcare systems, highlighting the need for improved prevention and treatment strategies. Advances in understanding basic biological mechanisms allow for more effective diagnosis and management of illnesses.
This document discusses gene therapy and genetic engineering. It distinguishes between gene therapy, which aims to treat disease by replacing mutated genes, and genetic enhancement, which aims to modify humans in a way that goes beyond curing illness or disability. While gene therapy seeks to cure disease and is considered acceptable, genetic enhancement that modifies humans to make them "super human" raises ethical issues and is generally not supported by the Catholic Church. The key distinction is that gene therapy should be therapeutic and only done to promote health, while genetic enhancement goes beyond therapy and could worsen conditions or unfairly advantage some individuals.
ABSTRACT
Gene therapy is the introduction of genes into existing cells to prevent or cure a wide range of diseases. It is a technique for correcting defective genes responsible for disease development. The first approved gene therapy experiment occurred on September 14, 1990 in US when Ashanti DeSilva was treated for ADA-SCID. Gene therapy is designed to introduce genetic material into cells to compensate for abnormal genes or to make a beneficial protein. If a mutated gene causes a necessary protein to be faulty or missing, gene therapy may be able to introduce a normal copy of the gene to restore the function of the protein. A gene that is inserted directly into a cell usually does not function. Instead, a carrier called a vector is genetically engineered to deliver the gene. Certain viruses are often used as vectors because they can deliver the new gene by infecting the cell. The viruses are modified so they can't cause disease when used in people. Some types of virus, such as retroviruses, integrate their genetic material (including the new gene) into a chromosome in the human cell. Other viruses, such as adenoviruses, introduce their DNA into the nucleus of the cell, but the DNA is not integrated into a chromosome.
This document summarizes several research articles on medical genetics. It discusses findings that thousands of genes can influence most diseases through tiny contributions, rather than a few major genes. It also describes a new method using RNA sequencing to diagnose genetic disorders by revealing errors in DNA execution and identifying candidate genes. The student believes further investigating gene networks and non-coding regions will be important for understanding rare conditions and developing treatments.
The document discusses two scientific studies investigating methods to inhibit DNA replication:
1) A 2017 study found that the bacterial toxin yatakemycin prevents DNA replication by forming strong bonds between DNA strands. This could potentially treat cancers and illnesses.
2) A second 2017 study identified a new antibiotic, closthioamide, that shows promise in treating gonorrhea. It inhibits DNA gyrase to block replication in Neisseria gonorrhoeae bacteria. Both studies explore new approaches to targeting DNA replication that could expand treatment options.
- A study found that endogenous retroviruses, which make up 8-10% of our genome, may play an important role in gene expression and development in the brain. Retroviruses can affect gene expression through a protein called TRIM28. Understanding this could provide insight into genetic brain diseases.
- A separate study discovered that proteins involved in lipid and membrane formation are synthesized more efficiently during cell division. Identifying the proteins and processes involved in cell division could lead to new ways of controlling cell division and potentially treating diseases like cancer.
Panyatree Kongkwanyuen wrote a paper on gene therapy and how it is changing the field of medicine. Gene therapy introduces DNA into the body to cure diseases by providing cells that correct or replace disease-causing cells. It has potential to treat hereditary diseases, cancer, AIDS and heart disease. However, there are also limitations and ethical issues regarding who can receive treatment and commercial applications. While promising, more research is still needed to improve gene therapy and fully realize its benefits.
DNA structure, genes and its chemical compositionValentina Duque
The document discusses the importance of understanding DNA structure and genes. It notes that DNA contains the genetic material of organisms and understanding a person's DNA can help identify genetic mutations that may cause diseases. This allows for focused treatment and prevention strategies. The document also discusses two recent studies: one discovered a new gene variant present in 3% of ALS cases, and the other found genetic variants linked to academic achievement that can help identify children at risk for learning difficulties. Understanding DNA structure is thus essential for medicine and treatment.
1. Researchers have developed a new method for more efficiently labeling proteins that is faster, higher yielding, and less disruptive to protein and cell function than current methods.
2. They engineered mammalian cells to incorporate an artificial chemical handle that allows a small fluorescent molecule to rapidly and stably attach to proteins of interest, enabling new types of cell biological studies.
3. Understanding protein interactions with nanomaterials at the nanoscale is important for controlling their function in applications like biosensing and tissue engineering, and for developing new composite materials.
Natalia Barrera is a medical student studying DNA structure and genes. She discusses three recent studies that could help improve medical treatment and diagnosis. The first study found that analyzing certain genes could distinguish between viral and bacterial infections, helping doctors determine if antibiotics are needed. However, the test currently has only 55% accuracy and takes 4-6 hours for results. The second study identified 172 combinations of tumor suppressor genes and drugs that were effective against human cancer cells, which could provide more treatment options for precision medicine. The third study discusses how improving diagnosis through these new tests could help reduce antibiotic overuse and resistance while giving patients greater treatment options and life expectancy for cancer.
Monogenic disorders are single gene disorders that are inherited according to Mendelian laws. Recent research highlighted in the document shows progress in managing these diseases. A study identified a genetic modifier associated with the progression of Huntington's disease, which could be a target for new treatments. Additionally, a natural antibiotic produced by bacteria from a cystic fibrosis patient was found to be effective against drug-resistant tuberculosis strains, demonstrating how one disease can help address another.
The document discusses transcription and RNA processing. It summarizes two scientific articles about regulating DNA transcription in bacteria and accessing DNA in mitochondria to treat disease. The first article finds that a riboswitch can regulate transcription in bacteria and may be a target for new antibiotics. The second discovers compounds that can access mitochondrial DNA to silence genes associated with nerve and muscle diseases. The medical utility section argues that further research on transcription and RNA processing could provide new treatments for common neurological disorders and address the growing problem of antibiotic resistance.
1. The document discusses recent discoveries about genetic variations between human genomes and structural variants that can disrupt genes.
2. It describes how identifying these exact genetic sequences of variations can help researchers narrow their searches for disease-causing mutations and develop new treatment possibilities.
3. The continued investigation of protein coding in genes is important for developing new and effective medications, as well as methods for disease prevention and health promotion.
These two studies demonstrate the medical utility of genetics. The first identifies mutations contributing to a rare blood cancer, which could help clinicians design targeted treatments. The second discovers a gene controlling the circadian cycle, improving understanding of conditions like hormone disorders. Together they show how genetics research advances medicine by revealing disease causes and biological mechanisms.
The leaflet aims at providing general objective information on genetic tests, including their nature and the potential implications of their results. It presents the different types of tests available, their applications in the medical field and the extent and limit of the significance of the information resulting from these tests.
More information - www.coe.int/bioethics
This document summarizes key findings in the new field of epigenetics. It discusses how environmental factors like diet and stress can induce epigenetic changes that alter gene expression without changing DNA. Specifically, it describes an experiment where changing mother mice's diet resulted in offspring with different physical traits and disease risks. The document also discusses how epigenetic changes can be passed down generations, how the human epigenome is as important as DNA, links between epigenetics and diseases like cancer, and how nurturing behaviors in rats can induce epigenetic changes in offspring's brains that affect stress responses.
This document discusses monogenic and polygenic diseases like cystic fibrosis and autism. It summarizes recent research that found fat-soluble vitamins may help antibiotics treat cystic fibrosis by preventing antibiotics from binding to proteins. A separate study identified 18 new autism-linked genes by analyzing the entire genomes of individuals, providing insight into autism's genetic causes and variability between patients. The research aims to improve treatment and quality of life for patients suffering from these hereditary conditions.
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...Scintica Instrumentation
Targeting Hsp90 and its pathogen Orthologs with Tethered Inhibitors as a Diagnostic and Therapeutic Strategy for cancer and infectious diseases with Dr. Timothy Haystead.
The binding of cosmological structures by massless topological defectsSérgio Sacani
Assuming spherical symmetry and weak field, it is shown that if one solves the Poisson equation or the Einstein field
equations sourced by a topological defect, i.e. a singularity of a very specific form, the result is a localized gravitational
field capable of driving flat rotation (i.e. Keplerian circular orbits at a constant speed for all radii) of test masses on a thin
spherical shell without any underlying mass. Moreover, a large-scale structure which exploits this solution by assembling
concentrically a number of such topological defects can establish a flat stellar or galactic rotation curve, and can also deflect
light in the same manner as an equipotential (isothermal) sphere. Thus, the need for dark matter or modified gravity theory is
mitigated, at least in part.
Authoring a personal GPT for your research and practice: How we created the Q...Leonel Morgado
Thematic analysis in qualitative research is a time-consuming and systematic task, typically done using teams. Team members must ground their activities on common understandings of the major concepts underlying the thematic analysis, and define criteria for its development. However, conceptual misunderstandings, equivocations, and lack of adherence to criteria are challenges to the quality and speed of this process. Given the distributed and uncertain nature of this process, we wondered if the tasks in thematic analysis could be supported by readily available artificial intelligence chatbots. Our early efforts point to potential benefits: not just saving time in the coding process but better adherence to criteria and grounding, by increasing triangulation between humans and artificial intelligence. This tutorial will provide a description and demonstration of the process we followed, as two academic researchers, to develop a custom ChatGPT to assist with qualitative coding in the thematic data analysis process of immersive learning accounts in a survey of the academic literature: QUAL-E Immersive Learning Thematic Analysis Helper. In the hands-on time, participants will try out QUAL-E and develop their ideas for their own qualitative coding ChatGPT. Participants that have the paid ChatGPT Plus subscription can create a draft of their assistants. The organizers will provide course materials and slide deck that participants will be able to utilize to continue development of their custom GPT. The paid subscription to ChatGPT Plus is not required to participate in this workshop, just for trying out personal GPTs during it.
PPT on Direct Seeded Rice presented at the three-day 'Training and Validation Workshop on Modules of Climate Smart Agriculture (CSA) Technologies in South Asia' workshop on April 22, 2024.
When I was asked to give a companion lecture in support of ‘The Philosophy of Science’ (https://shorturl.at/4pUXz) I decided not to walk through the detail of the many methodologies in order of use. Instead, I chose to employ a long standing, and ongoing, scientific development as an exemplar. And so, I chose the ever evolving story of Thermodynamics as a scientific investigation at its best.
Conducted over a period of >200 years, Thermodynamics R&D, and application, benefitted from the highest levels of professionalism, collaboration, and technical thoroughness. New layers of application, methodology, and practice were made possible by the progressive advance of technology. In turn, this has seen measurement and modelling accuracy continually improved at a micro and macro level.
Perhaps most importantly, Thermodynamics rapidly became a primary tool in the advance of applied science/engineering/technology, spanning micro-tech, to aerospace and cosmology. I can think of no better a story to illustrate the breadth of scientific methodologies and applications at their best.
EWOCS-I: The catalog of X-ray sources in Westerlund 1 from the Extended Weste...Sérgio Sacani
Context. With a mass exceeding several 104 M⊙ and a rich and dense population of massive stars, supermassive young star clusters
represent the most massive star-forming environment that is dominated by the feedback from massive stars and gravitational interactions
among stars.
Aims. In this paper we present the Extended Westerlund 1 and 2 Open Clusters Survey (EWOCS) project, which aims to investigate
the influence of the starburst environment on the formation of stars and planets, and on the evolution of both low and high mass stars.
The primary targets of this project are Westerlund 1 and 2, the closest supermassive star clusters to the Sun.
Methods. The project is based primarily on recent observations conducted with the Chandra and JWST observatories. Specifically,
the Chandra survey of Westerlund 1 consists of 36 new ACIS-I observations, nearly co-pointed, for a total exposure time of 1 Msec.
Additionally, we included 8 archival Chandra/ACIS-S observations. This paper presents the resulting catalog of X-ray sources within
and around Westerlund 1. Sources were detected by combining various existing methods, and photon extraction and source validation
were carried out using the ACIS-Extract software.
Results. The EWOCS X-ray catalog comprises 5963 validated sources out of the 9420 initially provided to ACIS-Extract, reaching a
photon flux threshold of approximately 2 × 10−8 photons cm−2
s
−1
. The X-ray sources exhibit a highly concentrated spatial distribution,
with 1075 sources located within the central 1 arcmin. We have successfully detected X-ray emissions from 126 out of the 166 known
massive stars of the cluster, and we have collected over 71 000 photons from the magnetar CXO J164710.20-455217.
2. POLYGENIC
DISORDERS
Valeria Torres.
Molecular Biology.
Teacher: Lina Martinez
B I B L I O G R A P H Y
• Martinez Sanchez, Lina Maria.
Biologia Molecular. 7 ed. Medellin:
UPB. Fac. Medicina
• Stanford University Medical Center.
(2017, June 20). Thousands of
genes influence most diseases,
researchers report. ScienceDaily.
Retrieved September 27, 2017
from
www.sciencedaily.com/releases/20
17/06/170620140627.htm
• King's College London. (2017, July
17). Genes account for half of
differences in social mobility.
ScienceDaily. Retrieved September
27, 2017 from
www.sciencedaily.com/releases/20
17/07/170717221044.htm
MEDICAL UTILITY
A lot of illnesses, it seems like everyday
appears a new one and sometimes it
medicine is not having or it’s poor in
medicines leading it to always send the
same ones for a lot of diseases. Some
of them have a great effect but in
others they don’t. And this
discoverment could help to expand
and create new medicines.
Also we are surrounded by a lot of
social problematics like discrimination
by social inequality (opportunities
specifically). That’s why our children
could be affected leading them to
suicide becoming a public health
problem.
3. I N T R O D U C T I O N
It’s a genetic disorder caused by
the action of more than one gen.
And they are going to be
influenced by different
environmental factors. This
disorders are very difficult to
study, because each disease has
many variabilities according to
the genes which are implicated
in determined disease.
This area of medicine has a lot
of investigation and many
things to discover according to
the prevention and treatment.
Genes account for half of
differences in social mobility
Thousands of genes influence
most diseases
Genes account for nearly 50 per cent of
the differences between whether children
are socially mobile or not, a new study
suggests.
What did they find?
This group of
researchers found
substantial genetic
influence on children’s
social mobility. Society
think children of studied
people have more
capacities but it doesn’t
Student’s opinion.
I consider that apart of a
clinical or patological
topic, this one is
important because it
goes to solve a social
problematic which is
turning to a very big
problem nowadays.
In a provocative new perspective piece,
researchers say that disease genes are spread
uniformly across the genome, not clustered in
specific molecular pathways, as has been
thought.
What did they find?
The gene activity of cells is so broadly
networked that virtually any gene can influence
disease. There are some genes who are
implicated directly and indirectly (basic and
peripheral genes).
Student’s opinion.
This investigation
contributes to expand
the objective of a lot
of medicines. Because
everything is focused
to the central genes
when peripheral genes
could be a great and
important point of
treatment and
consideration.
4. I N T R O D U C T I O N
DNA repair, any of several
mechanisms by which
a cell maintains the integrity of
its genetic code. DNA repair
ensures the survival of a species
by enabling parental DNA to be
inherited as faithfully as possible
by offspring. It also preserves
the health of an
individual. Mutations in the
genetic code can lead
to cancer and other genetic
diseases.
I N T R O D U C T I O N
It’s a genetic disorder caused by
the action of more than one gen.
And they are going to be
influenced by different
environmental factors. This
disorders are very difficult to
study, because each disease has
many variabilities according to
the genes which are implicated
in determined disease.
This area of medicine has a lot
of investigation and many
things to discover according to
prevention and treatment.
INTRODUCTION.
• Polygenic disease is caused
by multiple genetic variants
with low penetrance.
• Most common diaseases are
hypertension and coronary
artery disease.
5. Thousands of genes
influence most diseases,
researchers report.
2017, JUNE 20th
Regulation of DNA transcription in bacteria.
The survival of the cell is a question of timing.
Scientists have now identified the different
parts of this mechanism and introduced a
model of the process.
How do they know it?
The authors took some
members of the Bacillus
family where they
discovered it has some
health properties based on
DNA repair.
What did they find?
They found that in this kind
of bacterias one of their
regulatory elements is
riboswitch, and knowing
that it could be a potential
target for antiobiotics..
Student’s opinion.
Expanding the way of action
of riboswitch it gives to the
people kind of hope because
actually people are using
antiobiotics in a really bad
way creating too much
resistance to them, making
this infetions intractable.
Thousands of genes influence
most diseases.
In a provocative new perspective piece,
researchers say that disease genes are spread
uniformly across the genome, not clustered
in specific molecular pathways, as has been
thought.
What did they find?
The gene activity of cells is so broadly
networked that virtually any gene can influence
disease. There are some genes who are
implicated directly and indirectly (basic and
peripheral genes).
Student’s opinion.
This investigation
contributes to expand
the objective of alot of
medicines. Because
everything is focused
to the central genes
when peripheral
genes could be a
great and important
point of treatment
and consideration.
6. Thousands of genes influence most
diseases, researchers report.
POLYGENIC
MODEL
The researchers want to
change this term
because they discovered
that almost any gene
can influence diseases
and other complexes
traits.
OMNIGENIC
MODEL
7. Thousands of genes influence most
diseases, researchers report.
In any cell, there might be
50 to 100 core genes with
DIRECT effects on a given
trait., as well as easily
another 10.000 peripheral
genes that are expressed
in the same cell with
INDIRECT effects on the
same trait.
8. One of the goals of this
investigation is personalize
medicine. Everything have
to be related to predict the
peripheral gene-based risk
factors in individual
patients, guaranteeing a
“complete” studio of
genoma
Thousands of genes influence most
diseases, researchers report.
9. STUDENT OPINION.
This investigation contributes to
expand the objective of a lot of
medicines. Because everything is
focused to the central genes when
peripheral genes could be a great
and important point of treatment
and consideration. Also it can help
to expand the quantity of medicines
because everything could be more
directed to most specifics genes.
Thousands of genes influence most
diseases, researchers report.
10. Accessing DNA in the cell's powerhouse to treat
disease
For the first time, a synthetic compound has
been made that can bind to DNA in the cells'
energy powerhouses, suppressing a gene
associated with nerve and muscle disease.
What did they find?
This group of researchers
discovered some
compounds that can read
specific DNA sequences
inside living cells and
silence disease-causing
genes.
Student’s opinion.
This investigation sound
very good because this
kind of diseases are
affecting too many people
nowadays. And this
mechanism could help to
prevent this patologies and
increase the quality of life
because they are too much
common.
2017, JULY 17th
Genes account for half of
differences in social mobility
Genes account for nearly 50 per cent of
the differences between whether children
are socially mobile or not, a new study
suggests.
What did they find?
This group of
researchers found
substantial genetic
influence on children’s
social mobility. People
think that level of
education attitudes
depend of social status
but it does not.
Student’s opinion.
I consider that apart of a
clinical or patological
topic, this one is
important because it
goes to solve a social
problematic which is
turning to a very big
problema nowadays.
Genes account for half of
differences in social
mobility.
11. Genes account for half of differences in
social mobility.
Parents with higher levels of education think that they are more and
according to their social status their children have more opportunities and
always think they are superior to the others, because all is about social
condition and chances.
12. 4 Categories of families
1.
CHILDREN LEVEL A:
NO COMPLETED
FAMILY:
PROFESIONALS
2.
CHILDREN LEVEL A:
COMPLETED
FAMILY:
NO PROFESIONALS
3.
CHILDREN LEVEL
A: COMPLETED
FAMILY:
PROFESIONALS
4.
CHILDREN LEVEL A:
NO COMPLETED
FAMILY:
NO PROFESIONALS
Genes account for half of differences in
social mobility.
13. A kid who comes from a stable family (talking
about education) can not have more
opportunities than a guy who comes from
family where they parents dont have
proffesional formation. Because all of us have a
genetic component which allow people to have
a great formation.
Genes account for half of differences in
social mobility.
14. STUDENT OPINION.
Actually and long time ago the best
opportunities go to people and
children who are from “high class”
our society. And there are 2
consequences. The first one, is
people who is really good from
parents no proffesionals, they dont
have so much and good
opportunities as others. And the
second one, is that this situation has
been creating a very discriminative
atmosphere in our society and a lot
of prejudges,.
Genes account for half of differences in
social mobility.
15. MEDICAL UTILITY
A lot of illnesses, it seems like everyday
appears a new one and sometimes it
looks like medicine is not having or it’s
poor in medicines leading it to always
send the same ones for a lot of diseases
. Having a great effect in some ones but
not so good in the rest. And this
discoverment could help to expand
and create new medicines.
Also we are surrounded by a lot of
social problematics like discrimination
by social inequality (opportunities
specifically). That’s why our children
could be affected leading them to
suicide becoming a public health
problem.
MEDICAL UTILITY
16. Medical UtilityMEDICAL UTILITY
Knowing that there is a lot
of pheriperal genes having
some influence in some
patologies. It could be a
great chance for
pharmaceutical companies
to expand and create more
specific medicines, because
organism is creating a lot of
resistance to them.
17. If people don’t give the
same opportunities to
children, it doesn’t
matter if the family has
studies or not.
Kid with GOOD
opportunities
Kid with NO
opportunities is very
susceptible to fall into
drugs and bad habits
leading them to suicide
PUBLIC
HEALTH
PROBLEM
MEDICAL UTILITY
18. Medical Utility
According to the US National
Library of Medicine, it says that
bullying and situations which are
related to social discrimination are
leading our children to several cases
of depression and suicide. And it
becomes a problem of public health
because every year this percentage
of youth people is increasing. That’s
why this investigation contributes
to show to people from the
scientific component that we are
equal and everyone have the same
capacities to do something.
MEDICAL UTILITY
19. BIBLIOGRAPHY
• Martinez Sanchez, Lina Maria.
Biologia Molecular. 7 ed. Medellin:
UPB. Fac. Medicina
• Stanford University Medical
Center. (2017, June 20). Thousands
of genes influence most diseases,
researchers report. ScienceDaily.
Retrieved September 27, 2017
from
www.sciencedaily.com/releases/20
17/06/170620140627.htm
• King's College London. (2017, July
17). Genes account for half of
differences in social mobility.
ScienceDaily. Retrieved September
27, 2017 from
www.sciencedaily.com/releases/20
17/07/170717221044.htm