Course Title: Molecular and Medical Genetics Course Code: CLS 240 Program: Clinical Laboratory Sciences Department: Clinical Laboratory Sciences College: College of Applied Medical Sciences Institution: Taibah University Version: 2 Last Revision Date: 9 Safar 1438 AH A. General information about the course: 1. Course Identification 1. Credit hours: (2) 2 T 2. Course type A. ?University ?College ? Department ?Track ?Others B. ? Required ?Elective 3. Level/year at which this course is offered: (4th level/2nd year) 4. Course general Description: The course introduces basic concepts, terminology, and principles in medical and molecular genetics. It covers inherited diseases, Mendel's laws, family pedigrees, molecular genetics from genes to genomes, and the transmission of genetic diseases. It also discusses mutations, chromosomal aberrations, and diagnostic techniques like cytogenetic and prenatal testing for identifying genetic mutations causing diseases. 5. Pre-requirements for this course (if any): NA 6. Co-requisites for this course (if any): NA 7. Course Main Objective(s): 1. To clearly distinguish between medical genetics and molecular genetics and their interrelations. 2. To introduce and define the molecular unit of hereditary and medical and molecular genetic related terms including genes, chromosomes, genomics and heredity. 3. To ascertain the role of defective molecular unit of hereditary in transmitting genetic disease from generation to the next. 4. To correlate between changes in molecular genotype and their influence in developing mutant phenotype. 5. To identify the molecular structure of genes, chromosomes and genome. 6. To recognize the role of Mendel’s laws of heredity in controlling genetic disease mode of inheritance. 7. To describe cell division process and differentiate between steps in cell meiosis and mitosis. 8. To describe the structure and function of DNA and RNA molecules. 9. To outline and recognize the different stages of the three cellular molecular mechanisms; DNA replication, transcription and translation. 10. To explain the different modes of transmission of single gene disorder. 11. To differentiate between chromosomal structural and number aberrations. 12. To list different molecular genetic diagnostic techniques to detect chromosomal abnormalities. 13. To learn different cytogenetic and molecular cytogenetic techniques and their application in clinical diagnosis. 14. To record different types of mutations and their phenotypic effects on protein structure and function. 15. To name the different mutational bases of Sickle cell disease. 16. To define the different steps in developing cancer and their cancer causing genes. 17. To construct a family pedigree and interpret and decipher the mode of inheritance of disrober. 18. To summarize the different medical and molecular genetic prenatal diagnostic techniques. 2. Teaching mode (mark all that apply) No Mode of Instruction Contact Hours Percentage 1 Traditional classroom 30 100% 2 E-learning 3 Hybrid • Traditional classroom • E-learning 4 Distance learning 3. Contact Hours(based on the academic semester) No Activity Contact Hours 66. Lectures 30 67. Laboratory/Studio 68. Field 69. Tutorial 70. Others (specify) Total 30 B. Course Learning Outcomes (CLOs), Teaching Strategies and Assessment Methods Code Course Learning Outcomes Code of CLOs aligned with program Teaching Strategies Assessment Methods 1.0 Knowledge and understanding 1.1 Define molecular and medical genetic terms, gene and chromosome structures, modes of inheritance, different stages of germ line and somatic cell divisions and the major steps and molecules involved in gene expression K1 • Topic presentations using power point. • Presenting diagrams, pictures and short animation videos. • Guiding the student to acquire further specific knowledge and terminology by accessing different electronic resources including e-book and accessing recommended relevant journal articles placed on the web. • Direct wireless real time access of YouTube genetic resources in the session • MCQs on scratch card • Short note questions • Definition questions • Explanation questions 1.2 Recognize different types of mutations, phenotypic effects on protein structures and functions, and chromosomal aberrations and their impact on developing genetic diseases. K2 2.0 Skills 2.1 Construct of family pedigree and analysis to determine mode of inheritance. S1 • Power point lectures • Video clip • Midterm and final exams • Problem solving questions. 2.2 Correlate between different types of chromosomal mutations and gene mutations causing genetic disorders and the different molecular diagnostic genetic techniques in current clinical practice to detect them. S2 Code Course Learning Outcomes Code of CLOs aligned with program Teaching Strategies Assessment Methods 3.0 Values, autonomy, and responsibility 3.1 Develop cooperation and constructive scientific interpersonal skills among colleagues V1 Work as a group to solve MCQs using scratch card. • Power point on the net read only. • External netbased reading topics. Scratch cardbased test • Short note questions • Definition questions • Explanation questions • MCQs scratch card 3.2 Develop effective teamwork and communication skills, both independently and collaboratively, to express opinions, thoughts, and propose solutions to scientific inquiries V3 C. Course Content No List of Topics Contact Hours 13. Introduction to Genetics 2 14. DNA and RNA structure and function 2 3. Genes and Chromosomes 2 4. The Genetic Code 2 5. Modes of Inheritance 4 6. Genetic Diseases: Chromosomal Abnormalities 2 7. Case Study I: Down Syndrome 2 8. Mutations 2 9. Case Study II: Sickle Cell Disease 2 10. Cancer Genetics 2 11. Diagnostic Techniques: Pedigrees 2 12. Diagnostic Techniques: Prenatal Testing 2 13. Diagnostic Techniques: Cytogenetics and FISH 2 14. Revision 2 Total 30 D. Students Assessment Activities No Assessment Activities * Assessment timing (in week no) Percentage of Total Assessment Score 41. Continuous Assessment (Quizzes, Case studies, presentations, Discussion, Journal club, etc.) All around the semester 30% 42. Midterm exam Week 8-9 20% 43. Assignment Week 12 10% 4. Final exam Week 17-18 40% *Assessment Activities (i.e., Written test, oral test, oral presentation, group project, essay, etc.). E. Learning Resources and Facilities 1. References and Learning Resources Essential References 1) Bennett, Robin L. , French, Kathryn Steinhaus, Resta , Robert G. and Doyle , Debra Lochner. Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 17, (2008):424– 433. DOI 10.1007/s10897-008-9169-9 2) John R. Bradley, David Johnson, Barbara Pober. Lecture Notes: Medical Genetics, Wiley, 2006 3) Journal of Medical Genetics http://jmg.bmj.com/ Supportive References 1) Patrick Schaaf, Christian., Zschocke, Johannes. and Zschocke, Johannes. Human Genetics From Molecules to Medicine. Baltimore: Lippincott Williams & Wilkins, 2012 2) Strachan, Tom and Read, Andrew. Human Molecular Genetics, 4th Edition. Oxon: Gerland sciences. 2010. 3) Lewis, Ricki. Human Genetics: Concepts and Applications. 11th edition. USA: McGraw-Hill. 2014. Electronic Materials 4. List Electronic Materials, Web Sites, Facebook, Twitter, etc. 1) Slideshare. http://www.slideshare.net/ 2) Molecular and Medical Genetics slides. http://university.bandars.com/ 3) Youtube. https://www.youtube.com/ 4) Google images. https://www.google.com.sa/ 5) Taibah University Library e-Book database. 6) Learn science at Nature (scitabe) http://www.nature.com/scitable Other Learning Materials • Access DNA and protein data bases. • Mendel genetic disease database. 2. Required Facilities and equipment Items Resources facilities (Classrooms, laboratories, exhibition rooms, simulation rooms, etc.) • Lecture room. Technology equipment (projector, smart board, software) • Data show. • Laptop. Other equipment (depending on the nature of the specialty) • Net accessibility. F. Assessment of Course Quality Assessment Areas/Issues Assessor Assessment Methods Effectiveness of teaching Instructor ü Direct Method (Rubrics) ü Indirect Method (Questionnaire on the course by the end of the semester) Effectiveness of Students' assessment Head of the department Student achievement is verified by the head of the department. Quality of Learning resources Instructor Student ü Course Report. ü Course Evaluation Survey (CES) Achievement of Course Learning Outcomes Instructor Students ü Direct Method (Rubrics) ü Indirect Method (Questionnaire on the course by the end of the semester) ü Course Evaluation Survey (CES) Effectiveness of Assessment Results Instructor ü Course Report ü Grade Report Analysis ü Course Evaluation Survey (Indirect) Assessors(Students, Faculty, Program Leaders, Peer Reviewer, Others (specify)