Mattingly "AI & Prompt Design: The Basics of Prompt Design"
Genetic screening & gene therapy
1. GENETIC SCREENING & GENE THERAPY Genetic screening & Gene therapy Dr. Dinesh T Junior resident, Department of Physiology, JIPMER Dr sclerodinesh
2. Introduction
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4. History Technology to detect and treat inborn diseases - 1961. 1972 Friedmann and Roblin authored a paper in Science titled "Gene therapy for human genetic disease?“ The late 1980's, an international team of scientists began the project to map the human genome. September 14, 1990 - first approved gene therapy case in the United States took place.
5. 1992 - Doctor Claudio Bordignon, Milan, Italy performed the first procedure of gene therapy using hematopoietic stem cells. 1995 DNA testing in forensic cases gains fame in the O.J. Simpson trial. 2002 - first successful gene therapy treatment for adenosine deaminase-deficiency (SCID) 2003 – at University of California, Los Angeles research team inserted genes into the brain using liposome coated in a polymer called polyethylene glycol
6. 2006 - Preston Nix from the University of Pennsylvania School of Medicine reported on VRX496, a gene-based immunotherapy for the treatment of human immunodeficiency virus (HIV) that uses a lentiviral vector for delivery of an antisense gene against the HIV envelope 2007 – Moorfields Eye Hospital and University College London's Institute of Ophthalmology announced the world's first gene therapy trial for inherited retinal disease 2008 there were more than 1,200 clinically applicable genetic tests available.
8. What is genetic screening? The newest and most sophisticated of the techniques used to test for genetic disorders. One of the fastest moving fields in medical science. A technique to determine the genotype or phenotype of an organism. Determines risk of having or passing on a genetic disorder.
9. Genetic screening Genetic screening is often used to detect faulty or abnormal genes in an organism Can detect some genes related to an increasedrisk of cancer Can detect some genes known to cause geneticdisorders
10. Genetic tests The analysis of chromosomes (DNA), proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, phenotypes, or karyotype for clinical purposes.
11. Gene tests (also called DNA-based tests), in a broader sense Direct examination of the DNA molecule Biochemical tests for such gene products as enzymes and other proteins Microscopic examination of stained or fluorescent chromosomes
12. Genetic tests Who can order? What are the samples needed? How to interpret the tests? What are all the risks? Ethical considerations?
26. Family history of neural tube defect or other congenital abnormalities
27. Newborn Screening Tests: Maple Syrup Urine Disease Congenital Adrenal Hyperplasia Congenital Hypothyroidism Glactosemia Biotinidase Deficiency Homocystinuria Phylketonuria (PKU) Sickle cell and Other Hemoglobinopathies
28. Pre implantation Genetic Diagnosis (PGD) Pre implantation Genetic Diagnosis (PGD) uses in vitro fertilisation (IVF) to create embryos. Tests one or two cells from each embryo for a specific genetic abnormality. Identifies unaffected embryos for transfer to the uterus. The approach through PGD assists couples at risk of an inherited disorder to avoid the birth of an affected child without going through selective pregnancy termination.
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30. To avoid having children with devastating diseases
45. Gene therapy is the replacement of faulty genes. Introduction of functional genetic material into target cells to replace or supplement defective genes, or to modify target cells so as to achieve therapeutic goals.
46. In theory it is possible to transform either somatic cells (most cells of the body) or cells of the germ line (such as sperm cells,ova, and their stem cell precursors).
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49. Somatic Cell Therapy This is when a gene is introduced into a patient to help them recover from a disease.
50. Germ Line Therapy Changes are made to genes that will affect subsequent generations.
51. Applications of Gene Therapy Radical cure of single gene diseases e.g. cystic fibrosis, haemoglobinopathies. Amelioration of diseases with or without a genetic component e.g. malignancies, neurodegenerative diseases, infectious diseases.
53. Vectors in gene therapy: Non-viral methods Viruses Adeno-associated viruses Retroviruses Oligonucleotides Hybrid methods Lipoplexes and polyplexes Adenoviruses Naked DNA Envelope protein pseudotyping of viral vectors
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55. Gene therapy using an adenovirus vector. A new gene is inserted into an adenovirus vector, which is used to introduce the modified DNA into a human cell. If the treatment is successful, the new gene will make a functional protein.
56. Non viral vectors Un complexed plasmid DNA DNA coated gold particles Liposomes DNA – protein conjugates
58. Un complexed Plasmid DNA Purified DNA or mRNA injected directly into tissues Injected into muscle and skin • Utility in immunization/ vaccination against Infectious diseases • Ectopic synthesis of therapeutic proteins as erythropoietin.
63. DNA- Protein conjugates • Cell- specific DNA delivery systems • Utilize unique cell surface receptors on target cells • Chemical cross linking methods used
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65. Gene Transfer techniques • In vivo Suspension containing vector is injected directly into the patient either systemically (i.v.) or directly into target tissue (e.g. malignant tumour) • Ex vivo Target cells (stem cells,myoblasts,fibroblasts etc) removed from the patient, treated with vector and injected back into the patient
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69. Spectrum of gene expression Gene replacement for single gene disorders Gene repair Gene inactivation Ectopic synthesis of therapeutic proteins Cancer gene therapy
70. A) Immunodeficiency Disorders Adenosine Deaminase Deficiency X- linked SCID Chronic Granulomatous disease B) Liver Disease Familial Hypercholesterolemia Haemophilia A Target diseases