Syllabus

Course Code: BT-305    Course Name: Molecular Medicine and Diagnostics

MODULE NO / UNIT COURSE SYLLABUS CONTENTS OF MODULE NOTES
1 Chromosomes Anomalies and Disorders - Numerical (polyploidy, aneuploidy, autosomal, sex- chromosomal) & Structural (deletion, duplication, translocation, inversion, isochromosome, ring chromosome). Single gene disorders – Sickle cell anaemia, Haemophilia, Cystic Fibrosis, Tay-Sachs disease, Huntington disease- Genetics, Prevalence, Diagnosis and prognosis, Polygenic disorders – Type 1 Diabetes, Breast Cancer, Alzheimer disease -Genetics, Prevalence, Diagnosis and prognosis Mitochondrial disorders – Mitochondrial Homeostasis and Parkinson disease
2 Immunological approaches to detect protein biomarkers of disease-ELISA, Sandwich ELISA for measuring disease associated proteins, diagnosing autoimmune diseases by indirect ELISA, Immunoassays for infectious disease, protein arrays to detect polygenic disorder, DNA based approaches to disease diagnosis -Hybridization probes, allele specific hybridization, Oligonucleotide ligation assay, Padlock probes, Allele specific PCR, Real Time PCR to detect infectious disease, Detection of multiple disease associated mutations using Microarrays
3 Introduction to metabolic disorders and metabolic profiling. Cardiovascular diseases. Disorders in hormonal action. Insulin dependent and independent diabetes. Ligand induced signalling and gene expression in eukaryotic cells. Importance of intracellular trafficking& its related pathogenesis. Molecular endocrinology in health and disease. Cancer and cell cycle, Gene therapy as a potential tool to cure human diseases. Recombinant molecules in medicine
4 Free Radicals and Metal ions in Medicine: Mechanisms of lipid, protein and DNA oxidation, Antioxidants-small molecules and enzymes, Reactive Oxygen Intermediates (ROI), Transition metals in oxidative processes, Involvement of oxidative processes in ageing, cancer and atherosclerosis, Metal ions in gene regulation, Iron in human diseases-anaemia, and thalassemia, Metals and free radicals in Alzheimer’s disease and other neurodegenerative diseases.
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