Genetic disorders Chapter No.09 Biotechnology
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This document discusses genetic disorders, their transmission, detection, and treatment. It covers the following key points: 1. Genetic disorders can be caused by chromosomal abnormalities, unifactoral diseases from single defective genes, or multifactorial disorders caused by multiple genes and environment. 2. Detection of genetic disorders has been enabled by techniques like PCR, DNA probes, amniocentesis, and chorionic villus sampling which allow analysis of genes and chromosomes. 3. Gene therapy aims to replace defective genes with normal genes and has been used to successfully treat diseases like severe combined immunodeficiency (SCID) through ex vivo gene therapy of bone marrow cells.
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Genetic diseases are caused by mutations in DNA that affect genes and their corresponding proteins. There are three main types of genetic disorders: single gene disorders caused by one altered gene, chromosome disorders from changes in chromosome number or structure, and multifactorial disorders caused by multiple gene and environmental interactions. Some common genetic diseases include cystic fibrosis, thalassemia, and rare diseases like xeroderma pigmentosum and progeria. Gene therapy aims to treat genetic diseases by inserting functional genes to replace defective genes, using either ex vivo or in vivo methods to deliver therapeutic DNA.
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This document provides an overview of genetic disorders and infectious diseases. It discusses several types of genetic disorders including autosomal dominant disorders like Huntington's disease, autosomal recessive disorders like Niemann-Pick disease, X-linked dominant disorders like Incontinentia pigmenti, X-linked recessive disorders like color blindness, and Y-linkage disorders like male infertility. For infectious diseases, it describes miliary tuberculosis caused by Mycobacterium tuberculosis and feline leukemia virus (FeLV) in cats. Diagnosis of these conditions involves tests such as genetic testing, imaging, semen analysis, and blood tests to detect viral proteins for conditions like FeLV. Treatment depends on the specific condition but may include medications, gene
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This document provides an overview of medical genetics and heredity. It discusses key topics such as gene expression, alleles, Mendel's laws of inheritance, and different types of genetic disorders. The main points are:
1) Medical genetics applies genetics to medical practice, dealing with the diagnosis and treatment of diseases with a genetic basis.
2) Genetics explores heredity and variation in living organisms. Key early figures included Mendel who discovered the laws of inheritance, and Watson and Crick who discovered the structure of DNA.
3) There are different types of genetic disorders including single-gene, polygenic, chromosomal, and mitochondrial disorders. Common diseases like cancer and birth defects can also have genetic
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This document discusses various therapies for genetic disorders, including preventive methods, metabolic manipulation, gene product replacement, cell or organ transplantation, and somatic gene therapy. It provides details on preventive therapy through prenatal diagnosis and screening. Metabolic therapies include dietary restriction or supplementation, chelation, and metabolic inhibitors. Gene product replacement involves administering hormones, proteins, or enzymes. Somatic gene therapy introduces recombinant genes into somatic cells to treat genetic diseases. The document outlines the process of gene therapy and some challenges, such as immune responses, safety issues, and difficulties with multigenic disorders.
EVOLUTION / CONVERSATONS IN EVOLUTION THEORY
1) Charles Darwin first proposed the theory of evolution by natural selection in 1859 to explain how species change over time through heritable traits that increase an organism's chance of survival.
2) In 1854, Darwin solved his last major problem regarding how new evolutionary branches are formed through the divergence of genera.
3) Gregor Mendel's work in 1865 on inheritance and genes advanced understanding of how traits are passed to offspring, which is a key component of evolution by natural selection.
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Genetic disorders can be caused by abnormalities in chromosomes or single genes. Chromosomal disorders occur when there are errors in chromosome number or structure during meiosis, leading to conditions like Down syndrome. Single gene disorders are caused by mutations in genes, and result in diseases like cystic fibrosis, sickle cell anemia, and Huntington's disease. Gene therapy aims to treat genetic disorders by inserting a normal gene into cells to replace the mutated version, using viral vectors to deliver the healthy gene. While some successes have been seen, challenges remain in developing safe and effective vector delivery systems.
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Lung cancer is the leading cause of cancer deaths in the US. Smoking greatly increases the risk of lung cancer, with the risk increasing based on the duration and amount smoked. Early lung cancer usually shows no symptoms, but later signs may include coughing, shortness of breath, and weight loss. Smoking damages lung cells through carcinogens in cigarette smoke, causing abnormal cell growth over time that can lead to cancer. Treatment options include radiation, surgery, targeted drug therapies, and chemotherapy. Molecular testing can identify genetic mutations that determine eligibility for targeted therapies.
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The document discusses various methods used to study human genetics including genealogical, twins, dermatoglyphic, cytogenetic, biochemical, and molecular biology methods. It provides details on genealogical pedigrees, characteristics of autosomal dominant and recessive and X-linked inheritance patterns, twin studies to distinguish genetic from environmental influences, dermatoglyphic analysis of skin ridge patterns, cytogenetic analysis of chromosomes, and examples of sex-linked traits.
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This document provides an overview of medical genetics and heredity. It discusses key topics such as gene expression, alleles, Mendel's laws of inheritance, and different types of genetic disorders. The main points are:
1) Medical genetics applies genetics to medical practice, dealing with the diagnosis and treatment of diseases with a genetic basis.
2) Genetics explores heredity and variation in living organisms. Key early figures included Mendel who discovered the laws of inheritance, and Watson and Crick who discovered the structure of DNA.
3) There are different types of genetic disorders including single-gene, polygenic, chromosomal, and mitochondrial disorders. Common diseases like cancer and birth defects can also have genetic
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This document discusses various therapies for genetic disorders, including preventive methods, metabolic manipulation, gene product replacement, cell or organ transplantation, and somatic gene therapy. It provides details on preventive therapy through prenatal diagnosis and screening. Metabolic therapies include dietary restriction or supplementation, chelation, and metabolic inhibitors. Gene product replacement involves administering hormones, proteins, or enzymes. Somatic gene therapy introduces recombinant genes into somatic cells to treat genetic diseases. The document outlines the process of gene therapy and some challenges, such as immune responses, safety issues, and difficulties with multigenic disorders.
EVOLUTION / CONVERSATONS IN EVOLUTION THEORY
1) Charles Darwin first proposed the theory of evolution by natural selection in 1859 to explain how species change over time through heritable traits that increase an organism's chance of survival.
2) In 1854, Darwin solved his last major problem regarding how new evolutionary branches are formed through the divergence of genera.
3) Gregor Mendel's work in 1865 on inheritance and genes advanced understanding of how traits are passed to offspring, which is a key component of evolution by natural selection.
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Genetic disorders can be caused by abnormalities in chromosomes or single genes. Chromosomal disorders occur when there are errors in chromosome number or structure during meiosis, leading to conditions like Down syndrome. Single gene disorders are caused by mutations in genes, and result in diseases like cystic fibrosis, sickle cell anemia, and Huntington's disease. Gene therapy aims to treat genetic disorders by inserting a normal gene into cells to replace the mutated version, using viral vectors to deliver the healthy gene. While some successes have been seen, challenges remain in developing safe and effective vector delivery systems.
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Lung cancer is the leading cause of cancer deaths in the US. Smoking greatly increases the risk of lung cancer, with the risk increasing based on the duration and amount smoked. Early lung cancer usually shows no symptoms, but later signs may include coughing, shortness of breath, and weight loss. Smoking damages lung cells through carcinogens in cigarette smoke, causing abnormal cell growth over time that can lead to cancer. Treatment options include radiation, surgery, targeted drug therapies, and chemotherapy. Molecular testing can identify genetic mutations that determine eligibility for targeted therapies.
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The document discusses various methods used to study human genetics including genealogical, twins, dermatoglyphic, cytogenetic, biochemical, and molecular biology methods. It provides details on genealogical pedigrees, characteristics of autosomal dominant and recessive and X-linked inheritance patterns, twin studies to distinguish genetic from environmental influences, dermatoglyphic analysis of skin ridge patterns, cytogenetic analysis of chromosomes, and examples of sex-linked traits.
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4) Production of monoclonal antibodies using the hybridoma technique to continuously produce antibodies with a single specificity.
5) "Biopharming" or producing pharmaceuticals through transgenic plants, bacteria, and yeast that express therapeutic proteins.
Gene therapy for Biotechnologist
This document discusses gene therapy, including its history, mechanisms, applications, challenges, and recent developments. It provides an overview of the first human gene therapy trials in 1990 for severe combined immunodeficiency, as well as both successful and unsuccessful early gene therapy cases. Recent progress includes using gene therapy to potentially treat Parkinson's disease, cancer, blood disorders, and inherited blindness. Overall, the document outlines the key concepts and timeline of gene therapy from its beginnings to current research.
genetherapy-131009190236-phpapp02.pptx
Gene therapy involves introducing genes into cells to treat disease. It works by correcting defective genes that cause diseases. The first approved gene therapy occurred in 1990 when a child with ADA-SCID was treated. There are two main types of gene therapy - somatic cell therapy targets body cells while germline therapy affects eggs and sperm. Significant challenges remain for gene therapy including developing safe methods for long-term effects and ensuring equitable access to new treatments. However, gene therapy has potential to cure many inherited diseases and revolutionize medicine.
Gene therapy
This document provides an overview of gene therapy, including its types, approaches, vectors used, delivery methods, applications, advantages, and disadvantages. Gene therapy involves introducing normal genes into cells to replace missing or defective genes and correct genetic disorders. The first approved gene therapy experiment treated a child for ADA-SCID. Somatic and germline gene therapy are the two main types. Vectors deliver therapeutic genes and include viral vectors like retroviruses and lentiviruses and non-viral methods. Applications show promise for diseases like cancer, cystic fibrosis, hemophilia, and neurological disorders. However, risks include toxicity, immune responses, and unpredictable effects that require further research.
GENE THERAPY
This document provides an overview of gene therapy, including types, approaches, vectors used, methods of delivery, advantages, disadvantages, applications, and recent advances. It discusses somatic cell gene therapy, which aims to correct genetic defects in non-reproductive cells, and germline gene therapy, which could pass alterations to future generations but poses more risks. Ex vivo and in vivo gene therapy approaches are described. Viral and non-viral vectors as well as various delivery methods are outlined. Some applications including cystic fibrosis and cancer are highlighted. Risks and ethical considerations are also mentioned.
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Genetic disorders Chapter No.09 Biotechnology
- 1. By. AMEEN MUHAMMAD CHOHAN Ex-Lecturer Biology Progressive Public School & College Badin Former Lecturer Zoology Pioneer Girl’s College Jamshoro
- 2. Detection and treatment of some Genetic Disorder 4000 genetic disorder have been observed. Genetic disorder affects 1 to 2 human population Mode of transmission/Acquarance. Inherited from parents. Egg or sperm Mutation. Any change in genetic material of organism.
- 3. Genetic Disorder (3 Categories) Chromosomal abnormalities:- Change in number & structure of chromosome. Chromosomal non-disjunction. Example. Down’s syndrome, Turner’s syndrome UNIFACTORIAL DISEASE. Diseases caused by single of pair of defective gene. Multiple disturbances. Huntington's Disease. Chromosome No.04 Autosomal dominant allele. Heterozygous Dominant condition. Symptoms. After 40-50 Age. Mental retardation, Involuntary Muscle movement. No treatment.
- 4. Cystic fibrosis:- A disease caused by autosomal receive allele located on chromosome No.7, lungs cell to not produced transgen for chloride ions. Chloride ions accumulates and cause chronic lungs infections. Body fails to absorb fats and nutrients from food. Treatment. Physiotherapy for lungs. Periodic treatment, Pancreatic extracts. Lab Diagnose is possible.
- 5. Multifactorial Disorders Disease caused by addictive affect of many genes. Along with environment. Example. Asthma:- Respiratory Disorder, allergy, wheezing, breathlessness. Insulin dependent diabetes mellitus. Type-I. Body fails to produce insulin.
- 6. Role of Biotechnology in the Diagnose of disease PCR & DNA probes are basic tool help in Diagnosing the disease. 200 disease diagnosed & treated. Hybridization detect genes of DNA.
- 7. Gene Therapy The technique of replacing defective gene/allele with the normal/functional gene therapy. It is treatment tool for genetic disorders. Induction. Somatic Cell- Individual only Germ cells or Embryonic Cell. Effective for generations. First disease treated with Gene therapy is SCID. Sever combined immuno defiency syndrome.
- 8. SCID Genetic disorder Effects Immune System Cause by. Defective allele for the production ADA (Adenosie Deaminase) by bone marrows. Help in development of Immune Cell B-Cells. Body to developed Immune Cell. Immune System become Weeks. Attacked by: Pneumonia ( Swelling of Lungs), Influenza and other pathogenic Disease.
- 9. Gene therapy of SCID Bone marrow cells are removed . A normal gene ADA is cloned. Gene for ADA is inserted to Retrovirus, which can penetrate to Bone marrow for acceptance of Gene. Cultured bone marrow cells. Inoculated host to body. Host bone marrow will produce ADA. Somatic Ex-Vivi/Invitro Gene therapy completed. Invdividual healthy but will pass defective Gene.
- 10. Gene Therapy In vivo gene therapy. When normal gene is placed for abnormal gene within body of organism is called in vivo gene therapy. Ex vivo gene therapy. When normal gene is placed instead of abnormal gene within lab or out side the body called Ex-vivo Gene therapy or Inviter Gene therapy.
- 11. Gene therapy of Cystic Fibrosis It is treated with in-vivo process. Normal gene for cystic fibrosis is cloned. Normal gene wrapped into Microscopic lipid envelopes called liposome. Sprayed through aerosol into lungs epithelia. Gene penetrate cells epithelia in lungs and cause production muscus.
- 12. Amniocentesis. It is a diagnostic procedure in which amniotic fluid is withdrawn from amniotic sac (Membrane enclosed the fetus). Cell of amniotic fluids & Chemicals are analyzed. Sequences are determined. All Genetic Disorder be detected. Down’s syndrome. Simple karyotyping Hemophilia, Tay-Sachs, Sickle Cell anemia. Gene Sequences. Performed. 16 to 18 Weeks.
- 13. Chorionic villus sampling. 8 to 10 Weeks of Pregnancy. Samples. Fetal Tissue (Chrion) Chorionic tissues are drawn from vagina through Srynge. Easiest to examine. ULTRA SOUND SAMPING. This technique used high frequency inaudible ultrasonic waves. Waves through bones of fetus reflects back and form an Image upon Situ to be observed on monitor. Morphological observation. Cleft plate, Microcephaly, Plodactylus, Dextra Cardia.
- 14. Genetic Counseling. Guidance give to a person by geneticist, about predicted genetic disorder is called G.C. Easy to avoid G.D, No expense, No Harm