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Course Syllabus Table of Contents Item Page Instructor Information 2-1 Course Information 2-2 Course Objectives 2- 4 Learning Resources 2–5 Course Requirements & Grading 2-6 Detailed Course Schedule 2-8 Instructor Information DR. Najlaa Alsini (Course Instructor of theory part) Mobile: 0508263363 E-mail : [email protected] Instructor profile: Assistant professor Contributor Members Name: Mrs. Shahd Naghi (Course Instructor for the practical part) Mobile: 0503624984 E-mail: [email protected] Instructor profile: Clinical Dietitian 2-1 Course Information COURSE NAME: METABOLIC AND GENETIC NUTRITIONAL DISORDERS COURSE NUMBER: CLN 446 COURSE MEETING TIMES: Lecture hours: 2 hours/week for 15 weeks (Total 30 hours) Practical hours: 2 hours/week for 15 weeks (Total 30 hours) Tutorials: : 1 hour/week for 15 weeks (Total 15 hours) LECTURES Two /Week Sun 8:00 – 10:00 PRACTICALS Two/Week Thur 9:00 – 11:00 TUTORIALS One /Week Thur 11:00 – 12:00 COURSE MEETING PLACES: Faculty of Applied Medical Sciences Female section 4th year classroom Building number 12, ground floor, Room No. 1234 COURSE PREREQUISITES AND REQUIREMENTS: Successful completion of Biology / Biochemistry / Nutritional Biochemistry 2-2 DESCRIPTION OF THE COURSE: This course introduces metabolic diseases and provides an expanded idea about genetics, and the role of medical nutrition therapy, screening, diagnosis and genetic counseling in the treatment of genetic and metabolic disorders. TEACHING METHODOLOGY: Mostly traditional instructions, with usage of data show .The students search websites on the Internet that are relevant to the topics of the course. - Regular reviewing of lectures and updating the course contents as needed. - Regular reviewing of practical procedures. - Developing course portfolio. - Distributing course evaluation form to students by the end of the course. - Regular departmental meetings to discuss each course with the course coordinator to find the strength and weaknesses and possible strategies for continuous improvements. 2-3 Course Objectives GENERAL OBJECTIVES: After attending this course, students should be able to: 1- Realize the importance of genetics in medicine and in metabolic diseases. 2- Realize the importance of genetics in diagnosis of metabolic disease and prognosis 3- Realize the way to diagnose metabolic diseases during pregnancy 4- Realize the way genetic testing can help preventing diseases to occur and give parents of sick child a way to produce healthy children before pregnancy (Pre implantation Genetic diagnosis). 5- Realize how genetics can help in pre-marriage screening 6- Realize how genetic diseases are common in our society and the reason for it. 7- Realize the mode of inheritance of metabolic diseases, X linked and Autosomal, finally realize the rule of genetics in development of medicine and research mainly. 8- Realize the way metabolic diseases can happen, and how enzymes play a major role in metabolism. 9- Realize the deficiency of these enzymes and the affect it makes in the pathways and how it shows clinically on the patient 10- Realize how diet metabolism in the cell is affected if some of these enzymes are deficient 11- Accordingly, diet will be the main management of these patients 12- Finally, they will realize that the main person who will manage these diseases is the clinical dietitians Objectives to be met by : Teaching in class and practical session in the hospital. Students will use books and electronic search for some materials 2-4 Learning Resources TEXT BOOKS & OTHER MATERIALS: 1. Mahan, L. K., & Escott-Stump, S. (2011). Krause's food & nutrition therapy. (13th ed.). St.Louis: Saunders, Elsevier. 2. Peter Turnpenny . (2011). Emer'ys Elements of Medical Genetics.(14th ed.). St.Louis: Churchill Livingstone. 3. Joede, Lynn B ; Carey, John C ; White, Raymond L ; Bamshad, Michael J. (2009). Medical Genetics. (4th ed.). Mosby. 4. Atlas of metabolism disease by nyhan and ozand (2013), 2nd edition 5. Inborn metabolic disease by saudubray (2012), 5th edition 6. Medical Genetics by Jorde , Carey and Bamshad (2010), 4th edition MEDICAL NUTRITION THERAPY FOR METABOLIC DISORDERS (for Practical Part) 7. Nutrition management of patients with inherited metabolic disorders (Phyllis B.Acosta), 2010 8. Nutrition support protocols: the Ross metabolic formula system, by Phyllis B Acosta; Steven Yannicelli; Abbott Laboratories. Ross Products Division, 2001 9. Metabolicpro web-based nutrient analysis software program, developed by Nutricia Advanced Medical Nutrition 2-5 Course Requirements & Grading COURSE REQUIREMENTS: ATTENDANCE: Learning in this class is an active, ongoing process. Information will be presented in class that can not be effectively communicated by reading another student's notes. Students need to experience each class him/her self. His/her performance in class depends a great deal on his/her attendance. It is important that students are on time, have few or no absences, and remain in class the full period. Attendance is taken at the beginning of class. Sometimes in-class quizzes or other graded activities occur. These may be individual or in groups, as determined by the instructor. If students miss a class in which one of these takes place, he or she has a zero for that quiz/activity. WITHDRAWALS: If a student wishes to withdraw from the course, it is his or her responsibility to inform the instructor. Appropriate withdrawal procedures will be followed. When a student accumulates unofficial absences in excess of two lectures or two labs or more, the instructor may, but is not obligated to file a withdrawal. IMPORTANT NOTE: If a student must be absent on the day of a test, he/she must notify the instructor prior to test time in order to be allowed to take a makeup test. A grade of zero (0) will be assigned if the instructor is not notified. If the student exceeds the maximum absences of 10%, this will result in his/her being dropped from the course. 2-6 EVALUATION STRATEGIES/GRADING GRADING PLAN Total grade is 100, distributed as following: Continuous Assessment (45%) Midterm 30% Homework, assignments attitude and attendance 15% Final Examination (55%) GRADING SCALE: The following grade scale applies throughout the course: MARK GRADE 95-100 A+ Exceptional 90-94 A Excellent 85-89 B+ Superior 84-80 B Very Good 75-79 C+ Above Average 70-74 C Good 65-69 D+ High-Pass 60-64 D Pass 0-59 F Fail 2-7 Detailed Course Schedule WEEK 1 LECTURE AND PRACTICAL TOPICS What is due? Introduction and course overview Brief history of genetics 2 3 4 Structure of Gene and Mitosis CHO Structure, Lactose Intolerance, Glucose and Galactose Malabsorption Glycolysis, Glucose Influx Krebs Cycle and Electron Transport Chain, Galactosemia, Hereditary Fructose Intolerance, Congenital Hemolysis (Pyruvate Kinase Deficiency) Glycogen Storage Disease (Von Gierke) Assignment Assignment Assignment X-Linked disease (G6PD, Hemophilia, Duchenne Muscular Dystrophy) 5 6 Fatty Acid and Cholesterol Synthesis, Smith-LempliOptiz Syndrome Familial Hypercholesterolemia, Bile Acid synthesis, Lipoprotein (Chylomicron, VLDL, LDL, HDL), Ketone Bodies Beta acid Fatty Oxidation Defect (SCAD, MCAD, LCAD, VLCAD), Transporter Deficit, Free Carnitine Revision 7 Revision Midterm 8 Protein Metabolism Assignment Urea Cycle Disorders 9 12 13 Phenylketonuria (PKU) Organic acidemia (Propionic and methylmalonic) Trip to Central Lab Homocystinuria, cystinuria/ cystinosis, MSUD 14 Tyrosinemia type 1 and alkaptonuria Screening, prenatal testing and diagnosis of inborn errors of metabolism 15 Genetic counseling of genetic and metabolic disorders Revision 18 Assignment Final Exam 2-8