#scichallenge2017 #scienceincypriotschools A presentation entry from Cyprus for the 2017 European Science Challenge looking at the use of Gene Therapy for Cystic Fibrosis.
Gene therapy may provide a potential treatment for cystic fibrosis (CF), a genetic disorder caused by a defective CFTR gene. CF affects the lungs, pancreas, and sperm ducts by causing thick, sticky mucus buildup. The most common mutation prevents the CFTR protein from functioning properly. Symptoms vary but can include chronic coughing, lung infections, digestive issues, and fertility problems for men. While there is no cure, treatments aim to clear mucus from the lungs and control infections. Gene therapy seeks to help correct the underlying genetic issue by providing a functional copy of the CFTR gene.
The document discusses bacterial infections in cystic fibrosis (CF), focusing on Pseudomonas aeruginosa. Key points:
1) P. aeruginosa is well-adapted to the CF lung environment and uses several mechanisms to establish chronic infection, including biofilm production and antibiotic resistance.
2) Early eradication of P. aeruginosa with combinations of antibiotics like ciprofloxacin and colistin can delay or prevent chronic infection in 74% of cases.
3) Once chronic P. aeruginosa infection is established, eradication is almost impossible so preventing its establishment is important for lung health outcomes in CF patients.
Gene therapy aims to treat cystic fibrosis by delivering functional copies of the defective CFTR gene to the airway epithelium using viral or non-viral vectors. Several clinical trials have been conducted using adenovirus, adeno-associated virus, and non-viral vectors to deliver the CFTR gene with varying levels of success. While progress has been made, gene therapy has yet to provide a cure for cystic fibrosis and new vector and trial designs are still needed to achieve sufficient gene expression and correction.
Cystic fibrosis is caused by defects in the CFTR gene which encodes a chloride channel protein. Mutations in this gene, particularly a deletion of three nucleotides coding for phenylalanine at position 508, disrupt the normal function of the CFTR protein. This leads to thickened mucus in the lungs and other organs, making patients prone to chronic lung infections that can destroy lung function over time. While gene therapy aims to deliver a healthy version of the CFTR gene to treat cystic fibrosis, current methods still have limitations around delivery and expression of the gene that need to be addressed through further research.
Gene therapy involves inserting genes into cells to treat disease. It was first tested in animals and then used in humans. The first approved gene therapy experiment occurred in 1990 and treated a child named Ashanti DeSilva for ADA-SCID. There are two main types of gene therapy - somatic cell gene therapy, which targets non-reproductive cells and is preferred since genetic changes are not passed to offspring, and germ line gene therapy, which targets reproductive cells. A common method is ex vivo gene therapy, which involves removing cells like bone marrow, modifying them in a lab, and returning them to the patient.
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.
This document summarizes key information about X-linked diseases and mitochondrial DNA diseases. It discusses the X chromosome and genes located on it. It provides details on three specific X-linked diseases: hemophilia A, Duchenne muscular dystrophy, and fragile X syndrome. It describes the inheritance patterns, genetic causes, clinical features, and DNA testing approaches for each. It also provides a brief overview of the structure and function of mitochondrial DNA and its role in oxidative phosphorylation.
Cystic fibrosis is a genetic disease that affects the lungs and digestive system. It is caused by a defective gene that causes a thick buildup of mucus in the lungs, pancreas and other organs. Symptoms include persistent coughing, wheezing, shortness of breath and difficulty gaining weight. It is diagnosed through sweat and genetic tests. There is no cure but treatments aim to clear mucus from the lungs and aid digestion. While life expectancy has increased to around 37 years, it remains a chronic life-shortening disease.
Gene therapy may provide a potential treatment for cystic fibrosis (CF), a genetic disorder caused by a defective CFTR gene. CF affects the lungs, pancreas, and sperm ducts by causing thick, sticky mucus buildup. The most common mutation prevents the CFTR protein from functioning properly. Symptoms vary but can include chronic coughing, lung infections, digestive issues, and fertility problems for men. While there is no cure, treatments aim to clear mucus from the lungs and control infections. Gene therapy seeks to help correct the underlying genetic issue by providing a functional copy of the CFTR gene.
The document discusses bacterial infections in cystic fibrosis (CF), focusing on Pseudomonas aeruginosa. Key points:
1) P. aeruginosa is well-adapted to the CF lung environment and uses several mechanisms to establish chronic infection, including biofilm production and antibiotic resistance.
2) Early eradication of P. aeruginosa with combinations of antibiotics like ciprofloxacin and colistin can delay or prevent chronic infection in 74% of cases.
3) Once chronic P. aeruginosa infection is established, eradication is almost impossible so preventing its establishment is important for lung health outcomes in CF patients.
Gene therapy aims to treat cystic fibrosis by delivering functional copies of the defective CFTR gene to the airway epithelium using viral or non-viral vectors. Several clinical trials have been conducted using adenovirus, adeno-associated virus, and non-viral vectors to deliver the CFTR gene with varying levels of success. While progress has been made, gene therapy has yet to provide a cure for cystic fibrosis and new vector and trial designs are still needed to achieve sufficient gene expression and correction.
Cystic fibrosis is caused by defects in the CFTR gene which encodes a chloride channel protein. Mutations in this gene, particularly a deletion of three nucleotides coding for phenylalanine at position 508, disrupt the normal function of the CFTR protein. This leads to thickened mucus in the lungs and other organs, making patients prone to chronic lung infections that can destroy lung function over time. While gene therapy aims to deliver a healthy version of the CFTR gene to treat cystic fibrosis, current methods still have limitations around delivery and expression of the gene that need to be addressed through further research.
Gene therapy involves inserting genes into cells to treat disease. It was first tested in animals and then used in humans. The first approved gene therapy experiment occurred in 1990 and treated a child named Ashanti DeSilva for ADA-SCID. There are two main types of gene therapy - somatic cell gene therapy, which targets non-reproductive cells and is preferred since genetic changes are not passed to offspring, and germ line gene therapy, which targets reproductive cells. A common method is ex vivo gene therapy, which involves removing cells like bone marrow, modifying them in a lab, and returning them to the patient.
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.
This document summarizes key information about X-linked diseases and mitochondrial DNA diseases. It discusses the X chromosome and genes located on it. It provides details on three specific X-linked diseases: hemophilia A, Duchenne muscular dystrophy, and fragile X syndrome. It describes the inheritance patterns, genetic causes, clinical features, and DNA testing approaches for each. It also provides a brief overview of the structure and function of mitochondrial DNA and its role in oxidative phosphorylation.
Cystic fibrosis is a genetic disease that affects the lungs and digestive system. It is caused by a defective gene that causes a thick buildup of mucus in the lungs, pancreas and other organs. Symptoms include persistent coughing, wheezing, shortness of breath and difficulty gaining weight. It is diagnosed through sweat and genetic tests. There is no cure but treatments aim to clear mucus from the lungs and aid digestion. While life expectancy has increased to around 37 years, it remains a chronic life-shortening disease.
Immunocompromised patients are susceptible to infections from bacteria, fungi and viruses that a healthy immune system would usually fight off. Their weakened immune systems may be due to cancer treatments, transplants, or inherited/acquired immune disorders. These patients are at risk of infections from common organisms like Staphylococcus and Pseudomonas, as well as opportunistic pathogens like Candida, Aspergillus, Cryptococcus, and Acanthamoeba. Diagnosis involves cultures, antigen tests and imaging. Treatment requires appropriate antifungal or antibacterial drugs.
This document provides an overview of infectious agents and pathology of infections. It discusses the categories of infectious agents including prions, viruses, bacteria, fungi, protozoa, helminths, and ectoparasites. It describes the routes of entry, spread, and transmission of microbes within the body. It explains how microorganisms cause disease through direct cell damage, toxin production, and host immune responses. Key points include that infectious diseases remain an important health problem, and that limited access to healthcare contributes to disease burden in low-income countries.
Neutrophils are the most abundant white blood cells, accounting for up to 70% of circulating leukocytes. They are produced in high numbers in the bone marrow to act as sentinels of the innate immune system. Neutrophils have a short lifespan of 10 hours in circulation and up to 48 hours in tissues. They are recruited from blood vessels to sites of infection or damage, where they engulf and kill microbes using oxidative and non-oxidative mechanisms. Neutrophils also release neutrophil extracellular traps that ensnare bacteria. While defending against pathogens, neutrophils must be cleared from tissues to resolve inflammation and prevent tissue damage from their antimicrobial enzymes.
Cancer arises from normal cells whose nature is permanently changed, causing them to multiply rapidly and not be subject to normal control. Oncogenes are genes capable of transforming normal cells into cancerous cells and result from mutations of normal proto-oncogenes. Both DNA and RNA tumor viruses can transform cells through integration into the host cell DNA, which results in loss of growth control and tumor formation. Retroviruses contain oncogenes (v-onc) that are homologous to cellular proto-oncogenes (c-onc) and can induce transformation after mutation or other changes to the cell's genome.
An oncovirus is a virus that can cause cancer. This term originated from studies of acutely transforming retroviruses in the 1950–60s, often called oncornaviruses to denote their RNA virus origin. It now refers to any virus with a DNA or RNA genome causing cancer and is synonymous with "tumor virus" or "cancer virus".
“The data presented here and in the literature are consistent with the hypothesis that at least one cancer, retinoblastoma, can be caused by two mutations…. One of these mutations may be inherited as a result of a previous germinal mutation…. Those patients that inherit one mutation develop tumors earlier than do those who develop the nonhereditary form of the disease; in a majority of cases those who inherit a mutation develop more than one tumor.
This document discusses the genetic and epigenetic changes that cause cancer. It explains that cancer arises due to alterations that disrupt normal cell proliferation, senescence, and death. Key changes include mutations in oncogenes that increase cell growth and tumor suppressor genes that normally inhibit growth. Cancer development involves multiple genetic hits over time that transform cells and allow unchecked growth. Epigenetic alterations like DNA methylation and histone modifications also contribute to carcinogenesis. The complex interplay between a person's genetic factors and environmental exposures ultimately leads to the development of cancer.
This document summarizes a study examining infections caused by Enterococcus faecium, a common bacterium in the gastrointestinal tract. The study analyzed 58 patients with hematologic malignancies who developed E. faecium bloodstream infections (BSIs). It found that 23 patients were infected with the vancomycin-resistant strain (VREf) while 35 had the vancomycin-sensitive strain (VSEf). Patients with VREf experienced longer periods of neutropenia compared to controls. The study used pulsed-field gel electrophoresis (PFGE) to analyze the genetic relatedness of E. faecium strains and found they did not share genetic proximity, indicating resistance developed through different mechanisms. The
Carcinogenesis refers to the process by which a normal cell is transformed into a malignant cell and repeatedly divides to become a cancer
Chemicals which initiate this process is called chemical carcinogens
Chemicals which increase the effectiveness of carcinogens is called co-carcinogens
REGULATORY BACKGROUND
ROLE OF PROTO-ONCOGENES AND TUMOR SUPPRESSOR GENES
ACTIVATION OF PROTO ONCOGENES
OXIDATIVE STRESS IN CARCINOGENESIS
OECD guidelines
451- Carcinogenecity studies
453- Combined chronic toxicity/carcinogenecity
ICH guidelines
S1A- Guideline on the need for carcinogenicity studies of
pharmaceuticals
S1B- Testing for carcinogenicity of pharmaceuticals
S1C- Dose selection for carcinogenicity studies of pharmaceuticals
This document summarizes a study exploring the effects of baicalein (BAI) on bladder cancer cells. The study found that BAI inhibits proliferation and promotes apoptosis in bladder cancer cells. It also inhibits bladder cancer cell migration by down-regulating microRNA (miR)-106 expression. Specifically, BAI affects bladder cancer cells by inhibiting the JNK and MEK/ERK pathways through reducing miR-106 levels. P21 was also identified as a target of miR-106. The study utilized techniques like transfection, PCR, western blot analysis, and cell migration assays to analyze these regulatory mechanisms and effects of BAI on bladder cancer cells.
Defination of Cancer / Tumor, Types of Cancer, Characteristics of Cancer Cells, Hypothesises about Cancer, Tumor Viruses-DNA and RNA tumor viruses, Oncogene theory, Protovirus theory, Provirus Theory
The document discusses cancer biochemistry and tumor markers. It introduces cancer as uncontrolled cell growth, immortality, invasion and metastasis. Cancer causes include external carcinogens like chemicals, radiation, viruses and internal genetic factors. Two types of growth are benign and malignant tumors. Malignant tumors spread locally and metastasize distantly. Biochemical changes in cancer include alterations to growth factors, cell adhesion and immune evasion. Genetic changes modify oncogenes, tumor suppressors and stability genes. Tumor markers indicate cancer and include AFP, CEA, CA-125, HCG, PSA and others used for diagnosis, prognosis and monitoring treatment response.
Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes cannot kill ingested bacteria and fungi, leading to recurrent infections. It is caused by mutations affecting the NADPH oxidase enzyme complex needed for reactive oxygen species production. Patients experience severe lung, skin, and organ infections from catalase-positive microbes early in life. Diagnosis involves tests assessing reactive oxygen species levels. Treatment requires lifelong antibiotics, antifungals, immunoglobulin therapy, and stem cell transplantation.
Squamous cell carcinoma is the most common head and neck malignancy, comprising over 90% of cases. Tobacco and alcohol are the most important causative agents, with risk increasing fourfold when used together. Tobacco contains over 40 known carcinogens like polycyclic hydrocarbons and nitrosamines. Cannabis smoking carries an even higher risk due to larger amounts of tar and aromatic hydrocarbons. While alcohol alone is not carcinogenic, it increases the risk from tobacco by facilitating tissue permeation of carcinogens. Viruses like HPV also contribute, with high-risk strains associated with malignant transformation. Prolonged sun exposure increases melanoma and lip cancer risk due to UV radiation. Occupational exposures like nickel, chromium,
This document discusses the genetics of cancer. It explains that cancer is a genetic disease caused by mutations in somatic cells that lead to uncontrolled cell growth and metastasis. Key points include: cancer arises from multiple mutations over time; proto-oncogenes and tumor suppressor genes are involved in regulating cell growth and when mutated can cause cancer; viruses and environmental carcinogens can also cause cancer-causing mutations. The document covers various specific cancers and genes involved like p53, Ras, and BRCA1.
This document discusses mitochondrial inheritance in humans. It begins by describing mitochondria and their role in cellular respiration and ATP synthesis. Mitochondrial DNA is circular and encodes for proteins, tRNAs and rRNAs. Mutations can occur in mtDNA and be heteroplasmic. Mitochondrial disorders are maternally inherited and can result from mutations in mtDNA or nuclear DNA. Common syndromes include MELAS, MERRF and LHON. Diagnosis involves family history, clinical evaluation, biochemical testing, muscle biopsy and genetic testing. Treatment focuses on symptom management and supplementation. Mitochondrial defects can impact female and male fertility by reducing ATP production necessary for processes like oocyte maturation and sperm motility. New therapies involving
Cancer is not a single disease but rather a heterogeneous group of disorders characterized by uncontrolled cell division. Normal cells grow in an organized pattern whereas cancer cells grow disorganized in clumps. Malignant cell transformation requires multiple genetic alterations and involves initiation and promotion phases. Tumor suppressor genes and oncogenes play key roles in cancer development. Tumor suppressor genes normally inhibit cell growth but require both copies to be mutated to lose function, while oncogenes promote cell growth when mutated. The p53 protein encoded by the TP53 tumor suppressor gene prevents uncontrolled cell division in damaged cells. Loss of function in tumor suppressor genes and gain of function in oncogenes can lead to cancer development.
This document presents a case report of babesiosis, the first reported case in India. Babesiosis is a tick-borne illness caused by Babesia parasites. The patient, a 51-year-old male from Madhya Pradesh, presented with fever, anorexia, vomiting and other symptoms. Examination found parasites in his red blood cells. Tests ruled out malaria. He was diagnosed with babesiosis based on the characteristic morphology of the parasites. He responded well to treatment with clindamycin and quinine. The discussion covers the diagnostic challenges of babesiosis and importance of examining blood smears to differentiate it from malaria. This case suggests babesiosis may be underreported in India.
Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs and digestive system. It is caused by a mutation in the CFTR gene that results in abnormal chloride transport in cells. People with cystic fibrosis experience respiratory issues as mucus clogs airways and digestive problems as mucus blocks pancreatic enzymes. Current treatments aim to ease symptoms but there is no cure; research focuses on developing gene therapy to replace the mutated gene.
Cystic fibrosis is a genetic disorder caused by a mutation in the CFTR gene. It is a single-gene disorder that affects the lungs and digestive system by causing a buildup of thick mucus. Symptoms include difficulty breathing, coughing, lung infections, poor weight gain, and digestive issues. Treatments include medications, chest physical therapy, nutritional supplements, and gene therapy, but currently there is no cure.
Immunocompromised patients are susceptible to infections from bacteria, fungi and viruses that a healthy immune system would usually fight off. Their weakened immune systems may be due to cancer treatments, transplants, or inherited/acquired immune disorders. These patients are at risk of infections from common organisms like Staphylococcus and Pseudomonas, as well as opportunistic pathogens like Candida, Aspergillus, Cryptococcus, and Acanthamoeba. Diagnosis involves cultures, antigen tests and imaging. Treatment requires appropriate antifungal or antibacterial drugs.
This document provides an overview of infectious agents and pathology of infections. It discusses the categories of infectious agents including prions, viruses, bacteria, fungi, protozoa, helminths, and ectoparasites. It describes the routes of entry, spread, and transmission of microbes within the body. It explains how microorganisms cause disease through direct cell damage, toxin production, and host immune responses. Key points include that infectious diseases remain an important health problem, and that limited access to healthcare contributes to disease burden in low-income countries.
Neutrophils are the most abundant white blood cells, accounting for up to 70% of circulating leukocytes. They are produced in high numbers in the bone marrow to act as sentinels of the innate immune system. Neutrophils have a short lifespan of 10 hours in circulation and up to 48 hours in tissues. They are recruited from blood vessels to sites of infection or damage, where they engulf and kill microbes using oxidative and non-oxidative mechanisms. Neutrophils also release neutrophil extracellular traps that ensnare bacteria. While defending against pathogens, neutrophils must be cleared from tissues to resolve inflammation and prevent tissue damage from their antimicrobial enzymes.
Cancer arises from normal cells whose nature is permanently changed, causing them to multiply rapidly and not be subject to normal control. Oncogenes are genes capable of transforming normal cells into cancerous cells and result from mutations of normal proto-oncogenes. Both DNA and RNA tumor viruses can transform cells through integration into the host cell DNA, which results in loss of growth control and tumor formation. Retroviruses contain oncogenes (v-onc) that are homologous to cellular proto-oncogenes (c-onc) and can induce transformation after mutation or other changes to the cell's genome.
An oncovirus is a virus that can cause cancer. This term originated from studies of acutely transforming retroviruses in the 1950–60s, often called oncornaviruses to denote their RNA virus origin. It now refers to any virus with a DNA or RNA genome causing cancer and is synonymous with "tumor virus" or "cancer virus".
“The data presented here and in the literature are consistent with the hypothesis that at least one cancer, retinoblastoma, can be caused by two mutations…. One of these mutations may be inherited as a result of a previous germinal mutation…. Those patients that inherit one mutation develop tumors earlier than do those who develop the nonhereditary form of the disease; in a majority of cases those who inherit a mutation develop more than one tumor.
This document discusses the genetic and epigenetic changes that cause cancer. It explains that cancer arises due to alterations that disrupt normal cell proliferation, senescence, and death. Key changes include mutations in oncogenes that increase cell growth and tumor suppressor genes that normally inhibit growth. Cancer development involves multiple genetic hits over time that transform cells and allow unchecked growth. Epigenetic alterations like DNA methylation and histone modifications also contribute to carcinogenesis. The complex interplay between a person's genetic factors and environmental exposures ultimately leads to the development of cancer.
This document summarizes a study examining infections caused by Enterococcus faecium, a common bacterium in the gastrointestinal tract. The study analyzed 58 patients with hematologic malignancies who developed E. faecium bloodstream infections (BSIs). It found that 23 patients were infected with the vancomycin-resistant strain (VREf) while 35 had the vancomycin-sensitive strain (VSEf). Patients with VREf experienced longer periods of neutropenia compared to controls. The study used pulsed-field gel electrophoresis (PFGE) to analyze the genetic relatedness of E. faecium strains and found they did not share genetic proximity, indicating resistance developed through different mechanisms. The
Carcinogenesis refers to the process by which a normal cell is transformed into a malignant cell and repeatedly divides to become a cancer
Chemicals which initiate this process is called chemical carcinogens
Chemicals which increase the effectiveness of carcinogens is called co-carcinogens
REGULATORY BACKGROUND
ROLE OF PROTO-ONCOGENES AND TUMOR SUPPRESSOR GENES
ACTIVATION OF PROTO ONCOGENES
OXIDATIVE STRESS IN CARCINOGENESIS
OECD guidelines
451- Carcinogenecity studies
453- Combined chronic toxicity/carcinogenecity
ICH guidelines
S1A- Guideline on the need for carcinogenicity studies of
pharmaceuticals
S1B- Testing for carcinogenicity of pharmaceuticals
S1C- Dose selection for carcinogenicity studies of pharmaceuticals
This document summarizes a study exploring the effects of baicalein (BAI) on bladder cancer cells. The study found that BAI inhibits proliferation and promotes apoptosis in bladder cancer cells. It also inhibits bladder cancer cell migration by down-regulating microRNA (miR)-106 expression. Specifically, BAI affects bladder cancer cells by inhibiting the JNK and MEK/ERK pathways through reducing miR-106 levels. P21 was also identified as a target of miR-106. The study utilized techniques like transfection, PCR, western blot analysis, and cell migration assays to analyze these regulatory mechanisms and effects of BAI on bladder cancer cells.
Defination of Cancer / Tumor, Types of Cancer, Characteristics of Cancer Cells, Hypothesises about Cancer, Tumor Viruses-DNA and RNA tumor viruses, Oncogene theory, Protovirus theory, Provirus Theory
The document discusses cancer biochemistry and tumor markers. It introduces cancer as uncontrolled cell growth, immortality, invasion and metastasis. Cancer causes include external carcinogens like chemicals, radiation, viruses and internal genetic factors. Two types of growth are benign and malignant tumors. Malignant tumors spread locally and metastasize distantly. Biochemical changes in cancer include alterations to growth factors, cell adhesion and immune evasion. Genetic changes modify oncogenes, tumor suppressors and stability genes. Tumor markers indicate cancer and include AFP, CEA, CA-125, HCG, PSA and others used for diagnosis, prognosis and monitoring treatment response.
Chronic granulomatous disease (CGD) is an inherited immune disorder where phagocytes cannot kill ingested bacteria and fungi, leading to recurrent infections. It is caused by mutations affecting the NADPH oxidase enzyme complex needed for reactive oxygen species production. Patients experience severe lung, skin, and organ infections from catalase-positive microbes early in life. Diagnosis involves tests assessing reactive oxygen species levels. Treatment requires lifelong antibiotics, antifungals, immunoglobulin therapy, and stem cell transplantation.
Squamous cell carcinoma is the most common head and neck malignancy, comprising over 90% of cases. Tobacco and alcohol are the most important causative agents, with risk increasing fourfold when used together. Tobacco contains over 40 known carcinogens like polycyclic hydrocarbons and nitrosamines. Cannabis smoking carries an even higher risk due to larger amounts of tar and aromatic hydrocarbons. While alcohol alone is not carcinogenic, it increases the risk from tobacco by facilitating tissue permeation of carcinogens. Viruses like HPV also contribute, with high-risk strains associated with malignant transformation. Prolonged sun exposure increases melanoma and lip cancer risk due to UV radiation. Occupational exposures like nickel, chromium,
This document discusses the genetics of cancer. It explains that cancer is a genetic disease caused by mutations in somatic cells that lead to uncontrolled cell growth and metastasis. Key points include: cancer arises from multiple mutations over time; proto-oncogenes and tumor suppressor genes are involved in regulating cell growth and when mutated can cause cancer; viruses and environmental carcinogens can also cause cancer-causing mutations. The document covers various specific cancers and genes involved like p53, Ras, and BRCA1.
This document discusses mitochondrial inheritance in humans. It begins by describing mitochondria and their role in cellular respiration and ATP synthesis. Mitochondrial DNA is circular and encodes for proteins, tRNAs and rRNAs. Mutations can occur in mtDNA and be heteroplasmic. Mitochondrial disorders are maternally inherited and can result from mutations in mtDNA or nuclear DNA. Common syndromes include MELAS, MERRF and LHON. Diagnosis involves family history, clinical evaluation, biochemical testing, muscle biopsy and genetic testing. Treatment focuses on symptom management and supplementation. Mitochondrial defects can impact female and male fertility by reducing ATP production necessary for processes like oocyte maturation and sperm motility. New therapies involving
Cancer is not a single disease but rather a heterogeneous group of disorders characterized by uncontrolled cell division. Normal cells grow in an organized pattern whereas cancer cells grow disorganized in clumps. Malignant cell transformation requires multiple genetic alterations and involves initiation and promotion phases. Tumor suppressor genes and oncogenes play key roles in cancer development. Tumor suppressor genes normally inhibit cell growth but require both copies to be mutated to lose function, while oncogenes promote cell growth when mutated. The p53 protein encoded by the TP53 tumor suppressor gene prevents uncontrolled cell division in damaged cells. Loss of function in tumor suppressor genes and gain of function in oncogenes can lead to cancer development.
This document presents a case report of babesiosis, the first reported case in India. Babesiosis is a tick-borne illness caused by Babesia parasites. The patient, a 51-year-old male from Madhya Pradesh, presented with fever, anorexia, vomiting and other symptoms. Examination found parasites in his red blood cells. Tests ruled out malaria. He was diagnosed with babesiosis based on the characteristic morphology of the parasites. He responded well to treatment with clindamycin and quinine. The discussion covers the diagnostic challenges of babesiosis and importance of examining blood smears to differentiate it from malaria. This case suggests babesiosis may be underreported in India.
Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs and digestive system. It is caused by a mutation in the CFTR gene that results in abnormal chloride transport in cells. People with cystic fibrosis experience respiratory issues as mucus clogs airways and digestive problems as mucus blocks pancreatic enzymes. Current treatments aim to ease symptoms but there is no cure; research focuses on developing gene therapy to replace the mutated gene.
Cystic fibrosis is a genetic disorder caused by a mutation in the CFTR gene. It is a single-gene disorder that affects the lungs and digestive system by causing a buildup of thick mucus. Symptoms include difficulty breathing, coughing, lung infections, poor weight gain, and digestive issues. Treatments include medications, chest physical therapy, nutritional supplements, and gene therapy, but currently there is no cure.
Cystic fibrosis is a genetic disorder caused by a mutation in the CFTR gene. It is a single-gene disorder that affects the lungs and digestive system by causing a buildup of thick mucus. Symptoms include difficulty breathing, coughing, lung infections, poor weight gain, and digestive issues. While there is no cure, treatments aim to clear mucus from the lungs, control infections with antibiotics, improve nutrition, and potentially replace the defective gene through experimental gene therapy.
Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is caused by mutations in the CFTR gene that result in defective or too few chloride channels. This leads to dehydrated mucus and chronic lung infections. Symptoms include difficulty breathing, coughing, weight loss, and excessive salt in sweat. Treatment focuses on clearing mucus from the lungs and controlling infections through antibiotics and airway clearance techniques. While there is no cure, managing symptoms has increased life expectancy to over 30 years on average.
Cystic fibrosis is caused by a genetic mutation that causes thick, sticky mucus to build up in the lungs and digestive tract. It is treated through airway clearance techniques like chest physiotherapy, antibiotics, anti-inflammatory drugs, nutritional supplements, and gene therapy. The goals of treatment are to clear mucus from the lungs, control infections, maintain lung function, and manage complications through a combination of medical and physical therapy approaches. While there is no cure, early diagnosis and comprehensive treatment can improve survival and quality of life for those living with cystic fibrosis.
Gonorrhea is a common sexually transmitted infection caused by the bacterium Neisseria gonorrhoeae. It can infect the genital tract and other areas like the throat and rectum. Left untreated, it can lead to complications like pelvic inflammatory disease and infertility. While antibiotics can effectively treat gonorrhea, drug resistance has emerged, requiring the use of alternative antibiotic regimens. Preventing the spread of gonorrhea relies on safe sexual practices and promptly diagnosing and treating infected individuals and their partners.
An infectious disease can be spread from one organism to another through pathogens like bacteria, viruses, fungi and protozoa. An epidemic refers to a sudden increase in a disease in a specific area, an endemic disease is always present in a population, and a pandemic is a global rise in disease incidence. Infectious diseases are combatted through the immune system's non-specific defenses like skin and mucus barriers, and specific defenses like antibodies and lymphocytes that recognize and eliminate pathogens. Vaccines work by exposing the immune system to antigens to produce memory cells that mount a rapid response against the pathogen without causing disease.
The document discusses two studies, one on cracking the genetic code of Huntington's disease which found that modifying protein structures could help reduce disease symptoms, and another finding that adding fat-soluble vitamins to antibiotics may help combat antibiotic resistance in cystic fibrosis patients by allowing the antibiotics to attack bacteria more effectively. A student comments that these strategies could provide alternatives to changing antibiotics and help develop treatments before severe symptoms appear.
The document discusses the human microbiome and focuses on the gut microbiome. It describes how the gut microbiome is assembled through factors like birth method, diet, disturbances, and succession over time. Community composition impacts functions like energy harvesting and obesity risk. Fecal transplants can cure infections by transferring a healthy gut community. Antibiotics have disrupted gonorrhea populations worldwide by targeting essential processes, but resistance has developed through mechanisms that reduce antibiotic effects.
The document discusses viruses and compares the key differences between prokaryotic and eukaryotic cells. It notes that viruses are not cells and cannot reproduce without a host. They have either DNA or RNA, but not both, and do not metabolize energy. The document then provides more details on specific aspects of viruses, including their structure, types based on capsid symmetry, examples of virus shapes under electron microscopes, and the two methods of viral replication - lytic and lysogenic cycles.
Cystic fibrosis is a genetic disease that affects the lungs and digestive system. It causes a buildup of thick, sticky mucus in the lungs, pancreas, and other organs. Common symptoms include salty-tasting skin, persistent coughing, frequent lung infections, and difficulty gaining weight. While there is no cure, treatments aim to control symptoms and complications, and can help increase life expectancy. Managing cystic fibrosis requires medications, airway clearance techniques like chest physiotherapy, and following dietary recommendations.
Cystic fibrosis is a genetic disease that affects the lungs and digestive system. It is caused by a defective gene that produces a thick, sticky mucus in the lungs and pancreas. Symptoms include persistent coughing, wheezing, shortness of breath, lung infections, and salty-tasting skin. There is no cure, but treatments aim to clear mucus from the lungs and aid digestion. Life expectancy has increased to around 37 years on average with advances in care and new therapies targeting the underlying genetic cause.
Bacteriophages & Its classification, cycles, therapy, and applicationsZoqiaTariq
These slides are covering multiple aspects of Bacteriophages including History
Classification
Replication
Plaque Assay
Transduction
Phage Therapy and pahge types.
This document discusses various topics related to infectious diseases including:
- Types of diseases like acute, chronic, infectious, and non-infectious
- Common microbes that cause diseases like viruses, bacteria, protozoa, and fungi
- Means of disease spread such as airborne, waterborne, and vectors
- Treatment methods including reducing symptoms and killing microbes with medicines/antibiotics
- The immune response and how antibodies and white blood cells help defend against pathogens
- Specific diseases are also discussed like malaria, influenza, hepatitis, rabies, and AIDS.
The document discusses antiviral foods and viruses. It provides background on viruses, their structure, and how they replicate inside host cells. It also discusses the human immune system and gut microbiota, and how they interact. Dysbiosis or imbalance of the gut microbiota can compromise the immune system and increase susceptibility to infections like COVID-19. The cytokine storm response to COVID-19 involves excessive inflammatory cytokines that can damage organs; anti-inflammatory treatments may help reduce severity. The document examines what is known about the virus and immune response.
TB is caused by the bacterium Mycobacterium tuberculosis. It spreads through the air when people with active TB cough or sneeze, and infects the lungs. Each year 1.6 million people die from TB. Symptoms include fever, weight loss, persistent cough, and fatigue. While a healthy immune system may prevent the disease from spreading, untreated TB can damage the lungs and spread to other organs. Treatment requires taking multiple antibiotics for 6-9 months to kill all bacteria and prevent drug resistance.
here i discussed some human oncogenic viruses , their epidemeology, life cycle, treatment, prevention and control. . oncogenic viruses are cancer causing viruses.
Through culture growth and effects on agar plates, Streptococci can be identified and differentiated. Alpha-hemolytic colonies from respiratory specimens are considered normal flora, while beta-hemolytic colonies are tested to identify the antigenic group as A or B. Identification can also be made by the ability of S. pyogenes to hydrolyze PYR, turning it bright red. Rapid immunoassay testing is also available to detect group A streptococci from throat swabs.
A short presentation in Genetics about Cystic Fibrosis. This presentation includes the CF pathogenesis, diagnosis, signs and symptoms, the life expectancy of a patient, and its management.
Similar to #scichallenge2017 #scienceincypriotschools Cystic Fibrosis and gene therapy (20)
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Let’s explore the intersection of technology and equity in the final session of our DEI series. Discover how AI tools, like ChatGPT, can be used to support and enhance your nonprofit's DEI initiatives. Participants will gain insights into practical AI applications and get tips for leveraging technology to advance their DEI goals.
Exploiting Artificial Intelligence for Empowering Researchers and Faculty, In...Dr. Vinod Kumar Kanvaria
Exploiting Artificial Intelligence for Empowering Researchers and Faculty,
International FDP on Fundamentals of Research in Social Sciences
at Integral University, Lucknow, 06.06.2024
By Dr. Vinod Kumar Kanvaria
Physiology and chemistry of skin and pigmentation, hairs, scalp, lips and nail, Cleansing cream, Lotions, Face powders, Face packs, Lipsticks, Bath products, soaps and baby product,
Preparation and standardization of the following : Tonic, Bleaches, Dentifrices and Mouth washes & Tooth Pastes, Cosmetics for Nails.
Introduction to AI for Nonprofits with Tapp NetworkTechSoup
Dive into the world of AI! Experts Jon Hill and Tareq Monaur will guide you through AI's role in enhancing nonprofit websites and basic marketing strategies, making it easy to understand and apply.
ISO/IEC 27001, ISO/IEC 42001, and GDPR: Best Practices for Implementation and...PECB
Denis is a dynamic and results-driven Chief Information Officer (CIO) with a distinguished career spanning information systems analysis and technical project management. With a proven track record of spearheading the design and delivery of cutting-edge Information Management solutions, he has consistently elevated business operations, streamlined reporting functions, and maximized process efficiency.
Certified as an ISO/IEC 27001: Information Security Management Systems (ISMS) Lead Implementer, Data Protection Officer, and Cyber Risks Analyst, Denis brings a heightened focus on data security, privacy, and cyber resilience to every endeavor.
His expertise extends across a diverse spectrum of reporting, database, and web development applications, underpinned by an exceptional grasp of data storage and virtualization technologies. His proficiency in application testing, database administration, and data cleansing ensures seamless execution of complex projects.
What sets Denis apart is his comprehensive understanding of Business and Systems Analysis technologies, honed through involvement in all phases of the Software Development Lifecycle (SDLC). From meticulous requirements gathering to precise analysis, innovative design, rigorous development, thorough testing, and successful implementation, he has consistently delivered exceptional results.
Throughout his career, he has taken on multifaceted roles, from leading technical project management teams to owning solutions that drive operational excellence. His conscientious and proactive approach is unwavering, whether he is working independently or collaboratively within a team. His ability to connect with colleagues on a personal level underscores his commitment to fostering a harmonious and productive workplace environment.
Date: May 29, 2024
Tags: Information Security, ISO/IEC 27001, ISO/IEC 42001, Artificial Intelligence, GDPR
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This presentation includes basic of PCOS their pathology and treatment and also Ayurveda correlation of PCOS and Ayurvedic line of treatment mentioned in classics.
How to Build a Module in Odoo 17 Using the Scaffold MethodCeline George
Odoo provides an option for creating a module by using a single line command. By using this command the user can make a whole structure of a module. It is very easy for a beginner to make a module. There is no need to make each file manually. This slide will show how to create a module using the scaffold method.
2. WHAT IS CYSTIC FIBROSIS?
Cystic Fibrosis (CF) is a genetic disease of which causes the body to create extremely
thick, sticky mucus. The unhealthily thick mucus is produced by the layers of cells
that line hollow organs and glands called epithelial cells. The function of these cells is
to produce mucus and other secretions. Normally, epithelial cells make clear, thin
mucus that keeps surfaces lubricated and helps prevent disease by trapping potential
infectious organisms. These epithelial cells are normally found in the respiratory
tract, and are lined with cilia, thin hair-like structures that continuously beat and
sweep the mucus up and out of the respiratory tract.
In CF patients, the mucus produced by these epithelial cells is so thick and sticky that
is it not able to be swept out of the respiratory tract by the cilia. This causes a build-
up of mucus within the airways, enabling a trapped disease – causing organisms to
reproduce and this leads to infections.
CF patients also have trouble digesting food. In the gastrointestinal tract, the thick
mucus blocks the ducts leaving the pancreas, therefore digestive enzymes that are
produced are not able to reach the intestines to break any food down. This makes it
difficult for the patients to digest their food and obtain enough nutrients. The lungs
and the pancreas are the most infected organs although other organs such as the liver,
the sweat glands and the reproductive organs are commonly affected too.
It is a chronic inherited disease, which means that it inherited genetically from
parents that are both carriers of the faulty CFTR gene, the gene responsible for CF. If
both parents are carriers, there is a 1 in 4 chance that their child will have CF.
5. WHAT IS THE CFTR PROTEIN?
The protein CFTR – Cystic Fibrosis Transmembrane Conductance
Regulator is found in all epithelial cells, including those in the
lungs. Its job is to balance the flow of water and chloride ions
in and out of epithelial cells. When the gene is mutated, like in
CF patients, the protein doesn’t work properly and causes
changes to the ion balance of cells. This change can cause
symptoms such as salty sweat, which can result in dehydration
in CF patients, as well as the production of thick mucus.
7. THE PREVALENCE OF CF AROUND THE WORLD
CF is a disease present all over the world. In Europe,
particularly, CF is extremely prevalent in Ireland, the
Netherlands, Switzerland, Belgium, Denmark and Czech
Republic.
In America, CF is transpired to 1 in 2,500 to 3,500 Caucasian
infants; it is the most lethal disease affecting Caucasian
Americans.
The problem with CF is the short life span of the patients with
the disease. They have an average life span of 37.5 years.
8. VIRUSES…THE GOOD GUYS?
Viruses are usually the cause of our colds or our trouble-making
flus, which make us feel weak and ailing. They have specialised
surface proteins that allow them to sneak into cells causing
infection. What if we could use viruses and their mode of
infection as a transfer vehicle to genetically engineer and “fix”
mutated cells? What if we could insert a functional copy of a
gene within the virus’s genome, enabling it to infect host
(human) cells and allow the recovery of cell function to take
place? This could be a revolutionary approach to treating
genetic diseases such as Cystic Fibrosis.
9. VIRAL VECTOR WEAKNESSES
Viral vectors could help cure the disease, but scientists need further research
into this treatment option. There are a lot of consequences to consider while
trying to find a way to cure CF, for example which virus would be best suitable
and safe, making sure there are no harmful consequences. To fix the DNA, the
gene CFTR is needed to enter the cells, to replace the faulty gene sequence
with the healthy copy. There are possible viruses to choose from which must
cover certain factors:
The virus must target airways cells; no virus can infect all types of cells.
The virus must be able to infect cells that divide infrequently, like airway
cells do.
The virus must be effective and must infect a high number of cells to make a
significant change to the patient’s condition.
The virus must be sneaky; it should be able to infect cells without triggering
the immune system. Triggering the immune system would cause the death of
the viral vectors.
In this case, Adeno-associated viruses (AAV) are compatible for the procedure;
and scientists have used them before. The reason this therapy has not worked is
because the virus failed to assimilate into the cells genomic information. They
formed only low and momentary quantities of CFTR gene activity. Scientists are
still trying to understand why it went wrong and are trying to improve this
method.
11. HOW DO THEY DO IT?
In gene therapy, the virus is used as a transport vehicle to deliver the
healthy gene to the patients’ affected cells expressing the faulty gene. Here
are the steps:
1. Scientists cut out the pathogenic genes that the virus expresses using
restriction endonuclease enzymes. Doing this makes the virus non-
pathogenic.
2. The healthy copy of the CFTR protein is then ‘glued’ into the viral
genome using enzymes called DNA ligases.
3. The DNA produced is recombinant, and the virus is now called transgenic.
4. The transgenic viruses are left to replicate in petri dishes.
5. They are administered to the patients using an inhaler.
13. BACTERIOPHAGE
No one is immune to viruses; even bacteria can be infected by viruses.
Bacteriophage viruses are viruses which infect specific bacteria and use them to
reproduce, coming from the Greek word “φαγεῖν” meaning “to eat”, and the
word bacteria, translating to ‘‘Bacteria – eater’’. The phage – depending on what
type, uses a specific cycle to infect a host bacterium. There are two cycles that
the phage can choose from:
The LYTIC Cycle: occurs when the phage inserts its genetic information into
the bacterium and replicates more copies of its genome. Once this is done,
new virus particles form and the phage explodes, killing the bacterial cell. The
new viruses produced are released and able to infect further cells.
The LYSOGENIC Cycle: begins when the phage injects its genetic material into
the bacterial cell, which fuses and becomes a part of the bacterial genome.
Each time the bacteria divide, the virus’s genome is also replicated. When
enough copies of the viral genome have been made, the virus assembles
particles that destroy the bacterium, and switch to the LYTIC cycle.
16. OTHER TREATMENTS FOR CF
There are other treatments used to help CF patients be comfortable and free from
infections. There are many different therapies, but the main ones consist of
treatments such as airway clearance techniques, medications, oral pancreatic
enzymes and mucus thinners.
In chest physical therapy, a technique that involves clapping with cupped hands on
the back and the front of the chest is used to loosen thick mucus. It enables the
mucus to be coughed up, out of the respiratory tract.
Pancreatic enzymes are a necessary supplement which helps in the breakdown and
digestion of fats which can be disrupted if the pancreatic ducts are blocked.
Other medications comprise of inhaled antibiotics which are commonly used after
all the above treatments. They are usually used after a bronchodilator, which helps
in the removal of mucus from the bronchi, clearing the airways. Antibiotics are
taken to fight off any bacterial infections.
19. CONCLUSION
The mentioned method of gene therapy which uses
viral vectors as transport vehicles to get a healthy copy
of the gene inside the cell, replacing the faulty gene,
was unsuccessful. Although it failed, scientists are
working to improve this technique and will hopefully
find a way to extend patients’ life span in the future,
as well as find a way to cure Cystic Fibrosis.