Syllabus
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Course Code: IN-BTY-511 Course Name: Medical Biotechnology |
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| MODULE NO / UNIT | COURSE SYLLABUS CONTENTS OF MODULE | NOTES |
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| 1 | Classification of genetic diseases: Chromosomal disorders – Numerical disorders e.g. trisomies & monosomies; Structural disorders - deletions, duplications, translocations & inversions; Chromosomal instability syndromes. Gene controlled diseases – Autosomal and X-linked disorders, Mitochondrial disorders and Multifactorial conditions. Identification of disease genes, Functional cloning –haemophilia gene. Positional cloning - DMD and CGD genes. Candidate gene approach –Marfan’s syndrome, Alzheimer’s disease. Molecular basis of human diseases - Pathogenic mutations. Gain of function mutations: Oncogenes, Huntingtons Disease, Pittsburg variant of alpha 1 antitrypsin. Loss of function - Tumour Suppressor Genes, PAX- 3 gene; Gene Dosage Effect - PMP22 , Collagen gene; Genomic Imprinting -Mechanisms, Praderwilli / Angelman syndrome, WAGR syndrome, Beckwith Weidemann Syndrome; Dynamic Mutations - Fragile- X syndrome, Myotonic dystrophy; Mitochondrial diseases: MELAS, LHON Autoimmune Disorders-SLE, RA Diagnostics Prenatal diagnosis - Invasive techniques - Amniocentesis, Fetoscopy, Chorionic Villi Sampling (CVS), Non-invasive techniques - Ultrasonography, X-ray, TIFA, maternal serum and fetal cells in maternal blood; Diagnosis using protein and enzyme markers, monoclonal antibodies. DNA/RNA based diagnosis Microarray technology- genomic and c DNA arrays, application to diseases |
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| 2 | Therapeutics Clinical management and Metabolic manipulation - PKU, Familial Hypercholesterolemia, Rickets, ADA, Congenital hypothyroidism; Gene therapy: Ex-vivo, Invivo, Insitu gene therapy, Strategies of gene therapy: gene augmentation – ADA defeiciency, CFTR Prodrug therapy/ suicide gene – glioma, evoking immune response – melanoma TFO, Antisense therapy, Ribozymes, Protein Aptamers, Intrabodies Vectors used in gene therapy: Biological vectors – retrovirus, adenoviruses, Herpes Synthetic vectors– liposomes, receptor mediated gene transfer; Gene therapy trials – Familial Hypercholesterolemia, Cystic Fibrosis, Solid tumours. Cell and tissue engineering: Encapsulation technology and therapeutics - Diabetes, Hypothyroidism, Haemophilia Bioartificial organs, Artificial Cells- For Haemophilia, Phenylkeptonuria Gene products in medicine: Functional cloning – anti-haemophilic factor; Positional cloning- Dystrophin; Gene products in medicine - Humulin, Erythropoietin, Growth Hormone/Somatostatin, tPA, Interferon; DNA based vaccines; Vector vaccines – Cholera and Salmonella; Attenuated Vaccines– Cholera |
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