GEN717 - CASE BASED APPROACH TO CLINICAL GENETICS I

Course Name Code Semester Theory
(hours/week)		 Application
(hours/week)		 Credit ECTS
CASE BASED APPROACH TO CLINICAL GENETICS I GEN717 2nd Semester 2 2 3 8
PrequisitesGEN703 Formal Genetics and GEN707 Dysmorphology
Course languageTurkish
Course typeMust 
Mode of DeliveryFace-to-Face 
Learning and teaching strategiesLecture
Discussion
Preparing and/or Presenting Reports
Drill and Practice
Case Study
 
Instructor (s)Prof.Gülen Eda Ãœtine, MD, PhD, Associate Prof Pelin Özlem ÅžimÅŸek Kiper, MDPhD 
Course objectiveTo evaluate clinical findings in genetic diseases, to interpret clinical clues in investigation of genetic basis of disease, to learn the principles of clinical approach to the patient and the family in diseases of various genetic basis, to achieve clinical knowledge, skills and attitudes required in diagnosis, management and genetic counseling in genetic disorders. 
Learning outcomes
  1. Evaluates the individual affected by genetic diseases and interprets the findings.
  2. Plans the investigations required for elucidating the genetic basis of diseases.
  3. Plans the required investigations in the affected individual and the family.
  4. Plans the clinical approach in differential diagnosis, management, genetic counseling and prenatal diagnosis.
  5. Draws pedigree. Knows characteristics of inheritance patterns and recognizes the pattern of inheritance by analyzing the pedigree.
  6. Calculates the recurrence risk of genetic diseases in the family.
  7. Classifies structural anomalies, evaluates the possible underlying etiology.
  8. Knows principles of clinical approach and has information and skills on chromosomal, monogenic, genomic, epigenetic and common diseases.
Course ContentPatterns of Inheritance and General Characteristics
Pedigree Drawing and Risk Calculation
Clinical Approach to Structural Anomalies
Chromosomal Disorders Down Syndrome
Microdeletion Syndromes Prader-Willi Syndrome
Single Gene Disorders Neurofibromatosis
Single Gene Disorders Cystic Fibrosis
Single Gene Disorders Fragile X Syndrome
Common Diseases Cleft Lip and Palate
Epigenetic Diseases Beckwith-Wiedemann Syndrome
Genomic Diseases Copy Number Changes and Intellectual Disability 
ReferencesHennekam RJM, Krantz ID, Allanson J (2010). Gorlin?s Syndromes of the Head and Neck, 5th edition. Oxford University Press; ISBN: 0195307909.
Bonthron, DT et al. (1998). Clinical Genetics: A case-based approach. Bailliere Tindall; ISBN: 0702023515.
Stevenson RE & Hall, JG (2005). Human Malformations and Related Anomalies, 2nd edition. Oxford University Press; ISBN: 0195165683
Cassidy, SB & Allanson JE (2004). Management of Genetic Syndromes, 2nd edition. Wiley-Liss; ISBN: 0471308706
Jones, K et al. (2006). Smith?s Recognizable Patterns of Human Malformation, 6th edition. W.B. Saunders Company; ISBN: 0721606156
Moore, KL & Persaud TVN (2002). The Developing Human: Clinically Oriented Embryology, 7th edition. Saunders; ISBN: 0721694128 

Course outline weekly

WeeksTopics
Week 1Patterns of Inheritance and General Characteristics
Week 2Pedigree Drawing and Risk Calculation
Week 3Clinical Approach to Structural Anomalies
Week 4Chromosomal Disorders Down Syndrome
Week 5Midterm exam
Week 6Microdeletion Syndromes Prader-Willi Syndrome
Week 7Single Gene Disorders Neurofibromatosis
Week 8Single Gene Disorders Cystic Fibrosis
Week 9Single Gene Disorders Fragile X Syndrome
Week 10Midterm exam
Week 11Common Diseases Cleft Lip and Palate
Week 12Epigenetic Diseases Beckwith-Wiedemann Syndrome
Week 13Genomic Diseases Copy Number Changes and Intellectual Disability
Week 14Seminar
Week 15Final exam

Assesment methods

Course activitiesNumberPercentage
Attendance1410
Laboratory00
Application1430
Field activities00
Specific practical training00
Assignments00
Presentation110
Project00
Seminar110
Midterms210
Final exam130
Total100
Percentage of semester activities contributing grade succes070
Percentage of final exam contributing grade succes030
Total100

WORKLOAD AND ECTS CALCULATION

Activities Number Duration (hour) Total Work Load
Course Duration (x14) 14 2 28
Laboratory 0 0 0
Application14342
Specific practical training000
Field activities000
Study Hours Out of Class (Preliminary work, reinforcement, ect)14570
Presentation / Seminar Preparation21530
Project000
Homework assignment000
Midterms (Study duration)22040
Final Exam (Study duration) 13030
Total Workload4775240

Matrix Of The Course Learning Outcomes Versus Program Outcomes

D.9. Key Learning OutcomesContrubition level*
12345
1. Relates the principles of cell biology with novel fields, interprets the mechanisms of cell life.     
2. Interprets the relationship between genetic mechanisms and diseases, adapting the studies of investigating and preventing genetic diseases.    X
3. Evaluates the applications, interpretation, and limitations of genetic analysis methods. Designs for the development of analysis methods.    X
5. Can use genetic science databases and search engines to support conducted research    X
6. Performs critical analysis, synthesis, and evaluation of reached data and information using bioinformatics and biostatistics methods.     
7. Designs, conducts, and shares the results of an original project that brings innovation to the field of genetics, or adapts an innovation, idea, or design to the field of genetics.     
8. Can work in national/international communities conducting scientific activities in the field of genetics, share research results, and defend opinions.     
9. Respects ethical rules and patient rights.    X
10. Contributes to and leads the processes of informing students and the public about scientific, social, and cultural advancements in the field of genetics.    X

*1 Lowest, 2 Low, 3 Average, 4 High, 5 Highest