Department of Clinical Genetics Medical University of Lublin

Clinical Genetics BIS 2023/24

RULES AND REGULATIONS – BIS program

CLINICAL GENETICS – 5^th and 6^th semester

 

I. GENERAL COURSE DESCRIPTION

1. The Clinical Genetics course includes 15 hours of seminars and 30 hours of classes during two semesters:

2. The course consists of the following modules: Practical Basis of Disease Diagnosis, Basis of Disease A – Musculoskeletal system and skin, Basis of Disease B – Digestive system, Basis of Disease C - Hematopoietic &Immune + Autoimmune Disease, Basis of Disease D - Respiratory, Basis of Disease E - Urinary & Reproductive, Basis of Disease F - Metabolic and Endocrine, Basis of Disease G - Nervous system.

3. Classes and seminars are scheduled as follows: 5^th semester modules PBDD, BDA and BDB, 6^th semester modules BDC-BDG.

4. Modules PBDD, BDA-BDB will be conducted at the Department of Cancer Genetics. Modules BDC-BDG will be conducted at the Department of Clinical Genetics.

5. The coordinator of the course at the Department of Cancer Genetics is prof. Agata Filip agata.filip@umlub.pl. The coordinator of the course at the Department of Clinical Genetics is dr. Lidia Kotuła lidiakotula@umlub.pl

3. The course ends with the written exam, that is Final Test.

4. Detailed information is available at the Moodle platform.

II. THE RULES

1. A Student is obliged to come for classes and seminars on time and will not be allowed to enter the class if the time of delay exceeds 15 minutes. Students who are late more than one time receive 1 negative point for each subsequent delay.

2. The seminars and classes are mandatory.

3. In case of an absence a medical certificate or other document must be provided to the respective teacher within a week. If a medical certificate or other documents are not presented, an absence will be registered as an unjustified one. According to MUL regulations if an absence is not justified a student will not receive a credit for the course.

4. If an absence is justified, a student is obliged to pass the topic in a way arranged with the respective teacher within three weeks from the date of a missed class or seminar.

 

5.  Student with more than 2 absences will not receive a credit, even if all the absences are justified, unless the Dean will decide otherwise.

6. Students are obliged to be prepared for classes and seminars according to the topics available on Moodle.

7. Using mobile phones, making photos and recording during the classes and seminars is not allowed. Students who use mobiles or other recording devices without teacher’s permission may receive negative points (up to 5 points per one class/seminar).

8. Students are obliged to change shoes and leave the coats in the cloakroom while taking classes or seminars.

9. Inappropriately behaving students are not allowed to participate in classes or seminars. The teacher will ask such student out of the classroom.

III. ABOUT CLASSES

1. The Student is obliged to prepare one presentation during the semester (two presentations total). The terms and subjects of presentations are established by the Teacher at the first class of PBDD module.

2. The student must prepare presentation according to the topic list.

3. Student who presents a presentation, receives points (up to 10 points).

4. Presentation evaluation is conducted based on the following criteria:

Presentation evaluation sheet	Total score: 10 points
Compatibility of the presentation with the obligatory topics	0-1 point
Engagement of the group in the topic	0-1 point
The presence of the illustrations and/or short animations.	0-2 points
The way of the presenting – speaking instead of reading from the slides.	0-2 points
The knowledge of the student – teacher will evaluate answers to short questions.	0-4 points

 

4. During some classes and seminars students work with the worksheets. Appropriate filling of such worksheet is required to pass the class/seminar.

5. Student activity during classes and seminars is also evaluated. Student may collect up to 10 activity points during the course (both semesters).

6. Each module ends with short MCQ test. This test consists of 10 questions (1 point for each correct answer) and covers topics discussed during classes and seminars, as well as topics indicated for the self-study. Some module MCQs may be combined. The number of questions in the combined MCQ is an appropriate multiple of single MCQ (e.g., 20 questions for two modules or 30 for three) . There are no retakes of short MCQs. Points obtained during each quiz are counted to the total collected during the course.

 

IV. POINT CALCULATION

 

1. During the course students may collect 110 points total (80 points for MCQs, 20 points for presentations, 10 activity points). To be allowed to take the Final Test the minimum of 66 points is required. Students who collect 50-65 points are given additional quiz to complete the total. Additional quiz consists of 5 open questions (2 points each) covering the issues from the whole course.

2. Students who collected less than 50 points must repeat the course.

3. Students who earned 95 points and more will get additional 0.5 to their final grade.

V. FINAL TEST

Final MCQ test contains 50 questions. To pass the test the minimum of 60% of correct answers (30) is required. Two retakes of the test are possible, the passing score is the same. The first term test is graded as follows:

Per cent	Grade
>90%	5
>83-90%	4.5
75-83%	4.0
67-75%	3.5
60-67%	3.0
59% and less	2.0

VI. SOURCES OF LEARNING

 

1. OBLIGATORY BOOKS:

- L.B. Jorde, J.C. Carey, M.J. Bamshad “Medical Genetics (fifth edition)”. Elsevier, 2016.

- C.P. Schaaf, J. Zschocke, L. Potocki “Human genetics: from molecules to medicine” - Lippincott Williams & Wolters Kluwer business. ISBN-13: 978-1-60831-671-7 and ISBN-10: 1-60831-671-8.

- Helen V. Firth, Jane A. Hurst „Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series) 2nd Edition

2. RECOMMENDED BOOKS:

-William S. Klug, Michael R. Cummings “Essentials of Genetics”, Pearson Education, Inc

- Kenneth Jones, Marilyn Jones, Miguel del Campo „Smith's Recognizable Patterns of Human Malformation”,2021

3. OTHER:

-P.J. Russell “ iGenetics. A Mendelian Approach”.  Pearson Education International, 2006.

-Vasef MA, Auerbach A. “Molecular Oncology” Elsevier 2016

-T. Strachan and A.P. Read “Human Molecular Genetics 2”. Bios Scientific Publishers, 2000.

 

4. INTERNET SOURCES:

Genetics Home Reference: https://ghr.nlm.nih.gov/,

Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org

The Cancer Genome Atlas https://cancergenome.nih.gov/

Sequence Variant Nomenclature: http://varnomen.hgvs.org/

National Comprehensive Cancer Network https://www.nccn.org/