7. molecular genetics

Mar 11, 2014Download as pptx, pdf

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This document covers molecular genetics and genetic engineering, including DNA structure and replication, protein synthesis through transcription and translation, the genetic code, the human genome and its uses for diagnosis, therapy and research. It also discusses genetic engineering techniques like PCR and their uses in research, forensics and testing, as well as risks and applications in biotechnology for agriculture like GMOs and in biomedicine like gene therapy and production of human substances.

HUMAN GENOME
Diagnosis
Therapy
Medicines
Research

USES OF GENETIC ENGINEERING
Biological research
Forensic medicine
Paternity test
Historical and paleontological studies
RISKS
Genes could spread from laboratories
Ethical dilemmas

BIOTECHNOLOGY
AGRICULTURE:
Cloning
Genetically Modified Organisms

BIOMEDICINE
Production of human substances
Prevention of genetic diseases
Gene therapy
Use of genetically modified substances

1. Researchers have discovered a new four-stranded quadruple helix DNA structure called G-quadruplexes that exists in human genomes, particularly in regions rich in guanine. These quadruplexes are more common in rapidly dividing cells like cancer cells. 2. A separate study identified new sites in cells where DNA breaks early in the replication process. These break sites correlate with damage seen in cancers like diffuse large B cell lymphoma. Comparing mouse and human cells, both exhibit similar trends of genome instability at these sites. 3. Discoveries of DNA structures and break sites help understand the origins of diseases and cancer, offering new treatment approaches through stopping replication in cancer cells or addressing instability.

Gene therapy: Where do we standIOSR Journals

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The document discusses the evolution and current state of gene therapy, from its conception to present advancements in clinical applications. It highlights the use of recombinant DNA technology, various vectors for gene delivery, and ongoing clinical trials aimed at treating conditions like cancer and genetic disorders. Although significant challenges remain, there is optimism about the future integration of gene therapy into standard clinical practice.

Gene therapy for NKTI Feb2013David Dy

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Gene therapy involves using genes to treat disease, such as cancer. It works by inserting a functional gene into a patient's cells to fight the disease. For cancer treatment, genes are inserted using an engineered adenovirus vector. One application is inserting the p53 tumor suppressor gene, which causes cancer cells to self-destruct. The document describes p53 gene therapy being administered directly into tumors or through injection for several cancer patients. Many showed tumor shrinkage or complete remission with only mild side effects like fever. Gene therapy is a promising treatment when combined with conventional therapies.

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Zakir hcvKazi Zakir Zak

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This document discusses the molecular biology of hepatitis C virus (HCV). It describes HCV's structure, including its genome and genes that encode structural and non-structural proteins. These proteins and their roles in HCV's lifecycle are explained. The document also discusses HCV genotypes, mutations that contribute to its genetic diversity, and molecular targets for new antiviral drugs against HCV proteins and RNA. Resistance to direct antiviral drugs is a concern, as HCV can rapidly develop mutations due to its high replication rate and lack of a DNA stage. Understanding HCV's molecular biology is important for research, treatment, and developing new antiviral therapies.

gene therapyMuskaanSharma42

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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.

Diapositivas PleglableAndrePUpb

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TrovaGene, Inc. obtained an exclusive license for novel mutations associated with prognosis and chemotherapy response in leukemia. Researchers discovered that a mutation in the U2 RNA splicing factor gene can cause neurodegeneration in mice by preventing proper splicing of pre-mRNA into mRNA. The SF3B1 splicing factor mutation was also found to be important for diagnosing and treating chronic lymphocytic leukemia patients. These discoveries provide new insights into disease diagnosis and treatment.

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Single nucleotide polymorphism (SNP) refers to variations in a single nucleotide in the DNA sequence that can occur among individuals in a species. These variations can be harmless, harmful, or latent and contribute to unique traits and susceptibility to diseases. SNPs are categorized into coding and non-coding regions and can be detected through various methods, with applications in gene discovery, diagnostics, and risk profiling.

Advancements of medical biotechnology in gene therapySt.Xavier's College , Palayamkottai - 627 002

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Dr. B. Victor's presentation discusses advancements in gene therapy, outlining types of human genetic disorders and various gene therapy techniques including somatic and germline therapies. It highlights historical milestones, such as the first successful gene therapy case and the uses of both viral and non-viral delivery vectors. The challenges and recent developments in gene therapy, including potential applications for diseases like Parkinson's and Huntington's, are also addressed.

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The document outlines the principles and applications of gene therapy, detailing the human genome, gene structure, and the significance of polymorphisms. It discusses various methods and vectors for delivering genetic material to treat disorders like cystic fibrosis and head and neck cancers, highlighting ongoing trials and therapeutic strategies. The document also evaluates the pros and cons of different gene delivery systems, including viral and non-viral methods.

Secrets of parasites' replication unraveledcarito40

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This document discusses various topics related to DNA replication and genetic diseases. It describes how origin of replication (ORI) proteins recognize the origin of replication site to initiate DNA duplication. It also discusses alternative treatments for diseases caused by parasites like Trypanosoma brucei that cause sleeping sickness. Finally, it mentions how understanding genetic causes of diseases like Meier-Gorlin syndrome could allow for preventative genetic therapies in the future.

Cell authentication by str profileBennie George

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The document discusses the importance of cell line authentication through short tandem repeat (STR) profiling to ensure data integrity in cell line research. It highlights the common issues of cross-contamination and misidentification that can compromise research outcomes, and emphasizes the need for proper authentication standards, including DNA polymorphism analysis. Additionally, it outlines the workflow for STR profiling and offers contact information for related services.

Human endogenous retroviruses naeim1370

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The document explores the role of human endogenous retroviruses (HERVs) in the human genome, discussing their classification, integration into the germ line, and potential implications for autoimmune diseases and cancer. It highlights HERVs' evolutionary significance, their transcriptional activity, and beneficial functions, particularly during embryonic development and in immune regulation. Additionally, it examines the oncogenic mechanisms associated with HERVs and suggests therapeutic strategies targeting these sequences for tumor treatment.

Gene therapyDr Subodh Satheesh

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Gene therapy involves inserting a normal gene to replace an abnormal gene that causes a genetic disease. It can replace or inactivate mutated genes, or introduce new genes to fight disease. Common applications include treating cystic fibrosis, hemophilia, cancer, and HIV. Viral vectors like retroviruses and adenoviruses are often used to deliver genes, but they can cause immune reactions. Non-viral methods like nanoparticles, electroporation, and ultrasound show promise for safer gene delivery. Overall, gene therapy holds potential for treating many currently incurable genetic disorders and diseases.

Gene therapy teacherManisha Jethliya

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The document discusses gene therapy as a potential treatment for various diseases. It describes how gene therapy can be used to treat diseases by gene transplantation, correction, or augmentation. The two main approaches to gene therapy are in vivo, where genetic material is directly transferred into a patient's body, and ex vivo, where genetic material is first transferred into cells grown in vitro and then returned to the patient. Specific diseases that may be treatable with gene therapy include severe combined immunodeficiency, hemophilia, cystic fibrosis, cancer, and various neurological and infectious diseases. Cystic fibrosis is discussed in more detail as the most common lethal genetic disorder in Caucasian populations.

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The document describes experiments conducted to induce apoptosis in non-invasive retinoblastoma cell lines using tissue-specific promoter guided suicide gene transfection. Key objectives included propagating the suicide gene plasmid, transfecting it into a non-invasive retinoblastoma cell line, validating transfection efficiency through various assays, and studying the apoptotic effects induced. Transfection was confirmed at the mRNA and protein level. Assays showed over 60% of transfected cells undergoing early apoptosis and 35% undergoing late apoptosis, demonstrating the suicide gene successfully induced apoptosis in the targeted retinoblastoma cells.

Human Endogenous Retrovirus (power point)Kevin B Hugins

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Human endogenous retroviruses (HERVs), particularly HERV-W, are implicated in various diseases including multiple sclerosis, schizophrenia, and diabetes, with approximately 8% of the human genome consisting of HERV sequences. Research has linked HERV-W to the pathology of these conditions, suggesting that its expression may be influenced by factors like viral infections, gene polymorphisms, and environmental substances. Understanding HERVs' roles and mechanisms could lead to potential therapeutic approaches for the associated diseases.

Chapter 6 viroids and prionsAlia Najiha

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Oncogenic viruses can induce cancer by integrating their genetic material into the host cell's DNA. This can activate oncogenes and transform normal cells into cancerous cells. Prions are infectious proteins that cause neurodegenerative diseases by converting the normal form of the prion protein into an abnormal configuration. Viruses can be treated through vaccines containing attenuated viruses to stimulate immunity without causing illness, as well as antiviral drugs that inhibit viral replication.

DNA REPARATION ELISA OROZCOElisa Orozco

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This document summarizes research on mechanisms for repairing damaged DNA, including non-homologous end joining and homologous recombination. It discusses how enzymes act to replace lost DNA information before joining, and how further research on these enzymes may help prevent diseases like cancer via gene therapy. The document also discusses how the p53 tumor suppressor protein prevents genome mutation, and research showing statins may help prevent damage caused by mutated p53 and prevent its destruction by enzymes. Statins are said to have potential benefits for treating cancer by preventing chemotherapy resistance and metastasis. Overall, further research on DNA repair mechanisms and related proteins is said to lead to improved control of diseases through prevention, detection and treatment approaches.

Dna profilingRasha Haddad

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DNA analysis has become an important tool in forensic medicine. The document discusses several DNA identification systems used in forensic analysis like RFLP, SNP, VNTR, and STR. It also outlines the basic steps of DNA profiling which includes sample identification, DNA extraction, PCR amplification, analysis, and interpretation of results. Recent advances discussed include new genetic loci, non-invasive prenatal paternity testing, Y-STR and mitochondrial DNA analysis, as well as emerging techniques using RNA and epigenetic markers.

Basics of gene therapyDr.reena singh

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This document discusses gene therapy, including its history, mechanisms, applications, and challenges. It begins by defining genes and their role in hereditary traits. It then explains how gene therapy works by inserting genes into cells to treat genetic diseases. Various gene therapy methods are outlined such as ex vivo therapy using cultured cells and in vivo direct delivery. Challenges including short duration of effects, immune responses, and safety issues from viral vectors are also summarized.

Gene Therapy For Cystic FibrosisUniversity of Puerto Rico

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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.

GENE THERAPYFarzana Fatima Nafi

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The document discusses gene therapy as a potential treatment for oral cancer, focusing on the genetic alterations involved in oral squamous cell carcinoma (OSCC) and various gene therapy techniques such as somatic and germline therapies. It highlights modes of gene therapy including gene addition, excision, anti-sense RNA, suicide gene therapy, and immune therapy using oncolytic viruses like adenovirus. Despite challenges like toxicity and immune response, gene therapy offers a better prognosis and specific targeting of tumor cells, with ongoing research showing promising results.

L11 dna__polymorphisms__mutations_and_genetic_diseases4MUBOSScz

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1. DNA polymorphisms, such as single nucleotide polymorphisms (SNPs) and variable number tandem repeats (VNTRs), are natural variations in DNA sequences among individuals. 2. These polymorphisms can be used for indirect DNA diagnosis of genetic diseases through detection of restriction fragment length polymorphisms (RFLPs). DNA from family members is digested with restriction enzymes and analyzed through gel electrophoresis and Southern blotting. 3. If a polymorphism is found near a disease-causing mutation and is linked to it, its inheritance pattern can help determine which family members have inherited the mutation and are at risk for the associated genetic disease.

Gene therapyAhmad Hady

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This document discusses components of a gene therapy strategy for cancer treatment. It describes introducing exogenous DNA into cancer cells to alter gene expression and phenotype. There are two main aims - replacing defective tumor suppressor genes or introducing genes to kill cancer cells. Delivery methods include viral vectors, physical methods like injection, and chemical methods using liposomes. The document also discusses targeting tumor cells or normal cells like stem cells, using suicide genes or gene replacement, and overcoming challenges of systemic delivery.

Seminario biología molecular IsabelaJARAMILLO1

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The document discusses the mitochondrial genome of Cyclospora cayetanensis, an intestinal parasite responsible for acute diarrheal disease, which is transmitted via fecal-oral routes. It highlights the potential of mitochondrial DNA as a marker for genetic heterogeneity and the use of quantitative PCR (qPCR) for detecting variations among isolates. Additionally, the findings suggest opportunities for developing diagnostic tools to address public health challenges related to cyclosporiasis outbreaks.

Dr9 biosafetyhandlingforgenereplacementtherapydc01 rMiomir Knežević

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This document discusses biosafety considerations for gene therapy. It provides an overview of criteria used to categorize biological risk and ensure appropriate containment procedures when working with vectors like adeno-associated virus (AAV). Gene therapy aims to treat diseases by gene replacement, correction, or silencing. Viral vectors are often used to deliver therapeutic genes and AAV is particularly promising due to its ability to infect cells and lack of pathogenicity. Risk assessment and containment procedures should match the assigned biosafety level of the agent being used.

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