Human Molecular Genetics
Indian Institute of Technology Kanpur and NPTEL via Swayam
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Overview
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This is an introductory course designed primarily for students in the undergraduate or master’s programs interested in biomedical research, genetic counseling, medicine, and clinical genetics. This course is expected introduce the rapid advancements in our understanding the role of human genome in health and disease. We would introduce key concepts of inheritance of human traits, pedigree analysis, and chromosome organization. Molecular biology tools used for understanding the genome, gene structure and gene mutations, gene mapping and gene cloning strategies will also be covered. Objectives and outcome of human genome project and the HapMap project will also be discussed at the end.INTENDED AUDIENCE: Students interested in pursuing research in human molecular genetics. Medical students and practicing clinicians interested in understanding the principles and complexities of human genetics. Students interested in careers in genetic counselling and DNA diagnostics. Scientists working in public health service, counselling centres, and diagnostic laboratories.PRE- REQUISITES : Participants are expected to have at least class 12 level understanding in genetics.SUPPORT INDUSTRY: Medical and pharma companies, paramedic clinical centers, educational institutes, and hospitals.
Syllabus
Week 1: Fundamentals of central dogma (DNA, RNA and proteins; mutations), Chromosome structure and function
(organization; structure-function relationship; chromosome abnormalities).
Week 2: Genes in pedigree (Mendelian pedigree patterns, complications to pedigree patterns), DNA cloning and hybridization
techniques (vector based cloning; nuclei acid hybridizations; PCR-based DNA analyses)
Week 3: Mutation and instability of human DNA (mutation and polymorphism; pathogenic mutations, repeat expansions), Molecular
pathology (types of mutations; animal models for human disease)
Week 4: Identifying human disease genes (functional cloning versus positional cloning; mutation screening), Complex diseases;
The Human Genome and HapMap projects
(organization; structure-function relationship; chromosome abnormalities).
Week 2: Genes in pedigree (Mendelian pedigree patterns, complications to pedigree patterns), DNA cloning and hybridization
techniques (vector based cloning; nuclei acid hybridizations; PCR-based DNA analyses)
Week 3: Mutation and instability of human DNA (mutation and polymorphism; pathogenic mutations, repeat expansions), Molecular
pathology (types of mutations; animal models for human disease)
Week 4: Identifying human disease genes (functional cloning versus positional cloning; mutation screening), Complex diseases;
The Human Genome and HapMap projects
Taught by
S. Ganesh
Reviews
4.0 rating, based on 1 Class Central review
Showing Class Central Sort
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It was excellent. I learned a lot. In particular, liked the presenters, the schematics, and the review sections. I e mailed in some questions, and
received detailed and easy to understand answers almost immediately.
This is my first course in genetics, and I had to listen to some of the
lectures several times in order to retain the information, but I enjoyed
doing this. Also, the time frame was generous, and I was able to pace
myself and plan enough time to complete the class by the middle of
February.