• Basic information
• Learning outcomes
• Contents
• Assessment
• Workload

Learning outcomes

Upon successful completion of this course, students will be able to:

1. Be familiar with up-to-date genetic testing technologies in clinical setting and identify appropriate diagnostic methods for diseases with different genetic backgrounds

   Contribution to Program Outcomes

   1. To be able to define general concepts and problems related to Molecular Biology and Genetics and to produce solutions.
   2. To be able to define the structure-function relationship at the molecular level in cells and organisms.
   3. To be able to define life forms and their relationship with their environment.

   Method of assessment

   1. Written exam
2. Explain the mechanisms underlying Mendelian and atypical inheritance patterns using specific disease examples

   Contribution to Program Outcomes

   1. To be able to define the structure-function relationship at the molecular level in cells and organisms.
   2. To be able to define life forms and their relationship with their environment.
   3. To be able to drive hypotheses using existing knowledge, designing and conducting experiment for problem solving and make correct interpretation of the results obtained from the experiment.
   4. To be able to apply biological concepts to individual, social, economic, technologic and environmental issues and to develop sustainable approaches for problem solving.

   Method of assessment

   1. Written exam
3. Explain the principles and necessity of genetic counseling, understand how it is regulated in different countries and its ethical, legal, and sociocultural implications

   Contribution to Program Outcomes

   1. To be able to define general concepts and problems related to Molecular Biology and Genetics and to produce solutions.
   2. To be able to apply biological concepts to individual, social, economic, technologic and environmental issues and to develop sustainable approaches for problem solving.
   3. To be able to embrace academic ethical rules and to be able to act with a sense of responsibility.

   Method of assessment

   1. Written exam

Contents
Week 1:	Introduction to medical genetics, constructing pedigree charts
Week 2:	Molecular pathology: Variations and their functional effects
Week 3:	Medical indications and utility of genetic testing procedures in clinical practice
Week 4:	Developmental biology in medicine: - Dysmorphology and birth defects - Approach to the child with “multiple congenital anomalies/dysmorphic syndrome-intellectual disability”
Week 5:	Chromosomal disorders: Underlying mechanisms and their clinical significance on human health
Week 6:	Mendelian disorders: Single gene defects and their clinical significance on human health
Week 7:	Non-mendelian disorders: Underlying mechanisms and their clinical significance on human health
Week 8:	Midterm exam / Multifactorial diseases
Week 9:	Genetic variations in populations
Week 10:	Identifying human disease genes
Week 11:	Prenatal genetics: - Prenatal imaging, screening diagnosis - Fetal demise work-up and evaluation Neonatal and carrier screening for rare diseases
Week 12:	When and why do we diagnose?” - Genetic counseling: recurrence risks, ethical perspectives, and legal/social concerns - Approaches to treating genetic diseases
Week 13:	Hereditary cancer syndromes and genetic diseases with increased cancer predisposition
Week 14:	General overview: selected clinical cases with diagnostic challenges
Week 15*:	-
Week 16*:	Final exam
Textbooks and materials:	Thompson Thompson Genetics and Genomics in Medicine. Ronald Cohn, Stephen Scherer and Ada Hamosh. 9th Edition, Elsevier, 2023. - Human Molecular Genetics. Tom Strachan, Andrew Read. 5th Edition, Garland Science, 2018.
Recommended readings:	The Bedside Dysmorphologist. William Reardon. 2nd Edition, Oxford University Press, 2015.
	* Between 15th and 16th weeks is there a free week for students to prepare for final exam.

Assessment
Method of assessment	Week number	Weight (%)
Mid-terms:	8	40
Other in-term studies:	0	0
Project:	0	0
Homework:	0	0
Quiz:	0	0
Final exam:	16	60
	Total weight:	(%)

Workload
Activity	Duration (Hours per week)	Total number of weeks	Total hours in term
Courses (Face-to-face teaching):	3	14
Own studies outside class:	1	14
Practice, Recitation:	3	14
Homework:	0	0
Term project:	0	0
Term project presentation:	0	0
Quiz:	0	0
Own study for mid-term exam:	8	1
Mid-term:	2	1
Personal studies for final exam:	14	1
Final exam:	3	1
		Total workload:
		Total ECTS credits:	*
	* ECTS credit is calculated by dividing total workload by 25. (1 ECTS = 25 work hours)