The course on “Human Genetics” is a Discipline Specific Elective Course in Anthropology at undergraduate (UG) level under the Choice Based Credit System (CBCS). This is an introductory course designed primarily for students in the undergraduate or master’s programs interested in biomedical research, genetic counselling, medicine, and clinical genetics. This course is expected introduce the rapid advancements in our understanding the role of human genome in health and disease. The course is specially designed to supplement and enhance the understanding of students about different dimensions of human genetics starting from genes to proteins and mutations in genes to the genes in the evolution of humans. Furthermore, the course is focussed on history of human genetics, evolutionary genetics; Molecular evolution; DNA sequence variation and human origins. 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 in this course. Objectives and outcome of human genome project, 1000 Genomes project and the HapMap project will also be discussed. The objectives of this course is to give the target audience/students an understanding of: Structure, Function and Inheritance of the human genome, the DNA structure and its replication, Recombination and DNA repair Mechanisms and Expression of genetic Information. The relationship between genes and protein, Transcription and RNA processing, Decoding the codons: the role of transfer RNAs, Genomic Variation, Genotype-phenotype correlations, Pedigree analysis and Expressivity, Chromosomal Basis of Genetic Disorders and Genetic mapping. The course will also focus on Concept of non-mendelian inheritance and complex diseases, Genomic Diversity & Human Evolution
Week-1
History of Human Genetics
Introduction to Hereditary and Inheritance
Human Genome
Structure of DNA
Week-2
Replication of DNA
DNA repair and recombination
Gene expression
Coding and Non-coding regions of DNA
Week-3
Basics of expression of Genetic information
Transcription
Translation
Post translational modifications
Week-4
Relationship between genes and protein
RNA processing
Genetic Code
Decoding the codons: encoding genetic information
Week-5
Transfer RNAs (tRNA) and its role
Introduction to Genomic Variation
Origins of Genetic Diversity
Genomic Polymorphisms
Week-6
SNPs, VNTR, CNVs, and Human Genetics
Haplotypes and haplogroups
Genotype-phenotype correlations
Introduction to Epigenetics
Week-7
Common mechanisms of Epigenetics
Epigenetics and diseases
Non-coding RNAs, micro-RNAs(miRNAs) & long noncoding RNAs (lncRNAs)
Introduction to Genetic Study in Humans
Week-8
Pedigree Analysis and Expressivity
Chromosomal Basis of Genetic Disorders
Karyotypes and identification of chromosome variation
Nucleic Acid Hybridization Assays
Week-9
Cytogenetic mapping
Genetic mapping (Microsatellite and other DNA polymorphisms)
LOD score
Sequencing strategies (PCR based Sanger sequencing to Exome sequencing)
Week-10
Concept of non-mendelian inheritance and complex diseases
Introduction to Genomic Diversity & Human Evolution
Human Evolution: An Overview
Evidence from mtDNA
Week-11
Evidences from Y-chromosome
Evolutionary genetics
DNA sequence variation and human origins
Biological and cultural evolution of humans
Week-12
Genetic Counselling
Assignment’s compilation
Examination
1. Human Molecular Genetics by Tom Strachan, Andrew P. Read Garland Science/Taylor & Francis Group, 2011
2. Essentials Of Human Genetics Fifth Edition (University Press)
By Manu L. Kothari, Lopa A. Mehta · 2009
3. Human Genetics: Concepts and Applications by Ricki Lewis
McGraw Hill Publishers 2020.
4. Human Genetics, 6th Edition, SD Gangane, Elsevier Publishers 2021
5. Principles of Genetics by EJ Gardner, MA, Simmons and DP Snustad, 8th Edition, Willey Press 2006.
TEACHING ASSISTANT
Dr. Pir Mohd Ishfaq
Department of Bioresources
University of Kashmir
Dr. Manzoor Ahmad Mir holds Master’s Degree in Life Science, qualified CSIR-JRF-NET three times; completed his Ph. D from Jawaharlal Nehru University New Delhi through CSIR-Institute of Microbial Technology Chandigarh in the field of Life Sciences. Dr Manzoor has published more than 50 high-impact research papers with a cumulative impact factor of more than 200, has published 20 books and 56 book chapters with international publishers like Elsevier USA, Springer-Nature, Nova Biomedical Science Publisher USA, IGI Global, etc. Dr. Manzoor has guided eight Ph. D scholars besides 27 Masters Project students. Dr Manzoor has currently two on-going research projects one from SERB-DST Govt of India and one from JKST&IC-DST Govt of J&K. Dr Manzoor has developed Massive Open Online Course (MOOCs) in Immunology and Endocrinology and is currently developing two more MOOC courses on Human Genetics and Human Population Genetics for UGC-CEC-SWAYAM Ministry of Education Govt of India. He is member of many scientific organizations and societies like American Association of Cancer Research, American Oncology association, Fellow of Royal British Society, International Immunology Association, Indian Cancer Society, Indian Immunology Society, etc. He is on the editorial board and Reviewer of many prestigious journals. Dr Manzoor was awarded Teachers Associate Research Excellence Award by DST Govt of India in 2019 and Summer Research Fellowship by Indian Academy of Sciences and National Science Academy in 2020 and was awarded by JKST&IC Department of Science and Technology Govt of J&K for his Breast Cancer Awareness and Research during Kashmir-Expo-2022. Dr Manzoor has visited more than 10 countries for his scientific presentations like USA, China, UK, Spain, UAE etc. He was the first nodal officer and coordinator of Kupwara University Campus and is the coordinator of IIS-Gujrat University Collaboration. Presently he is Head Department of Bioresources, University of Kashmir.
Website: http://bioresources.uok.edu.in/Main/ViewPage.aspx?Page=101
30% for in-course assessment and 70% for end term proctored exam
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