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Genetics and Genomics (AOKGEN738_1A)
Faculty of Medicine, II. Semester 2023/2024

Topic list

 

Lectures

Monday 14:15-15:45
NET Green Lecture Hall

 Practices

Monday-Friday
NET L13-16

Week 1
(Feb 12-16)

Introduction to human genetics
ppt / with voice: video

Genetic aspects of atypical mitosis and meiosis
ppt

Week 2
(Feb 19-23)

Cytogenetics
ppt / with voice: video

Cytogenetics I
ppt

Week 3
(Feb 26 - Mar 1)

Genetic variations
ppt / with voice: video

Cytogenetics II
ppt

Week  4
(Mar 4-8)

Epigenetics
ppt / voice: audio

Disease examples
ppt

Week 5
(Mar 11-15)
Mar 15th Friday holiday

Monogenic inheritance
ppt / with voice: video

Methods in genetics and genomics
ppt

Week 6
(Mar 18-22)

Role of sex in inheritance
ppt / with voice: video

Introduction to pedigree analysis
ppt
Midterm I
doc

Week 7
(Mar 25-28)
Good Friday holiday

Oncogenetics
ppt / with voice: video

Autosomal dominant inheritance (AD)
ppt

Week 8
(Apr 2-5)
Easter Monday holiday

Holiday

Autosomal recessive inheritance (AR)
ppt

Week 9
(Apr 8-12)

Complex inheritance
Population genetics
ppt / with voice: video

Sex-linked inheritance
ppt

Week 10
(Apr 15-19)

Methods in genomics
Introduction to genomics
ppt  video   video  / with voice: video

Complex inheritance I
ppt

Week 11
(Apr 22-26)

Genome and environment,
Evolution genetics
ppt / with voice: video

Midterm II
pdf

Week 12
(Apr 29 - May 3)
May 1st Wednesday
holiday

Pharmacogenomics
ppt/ with voice: video

Complex inheritance II
ppt

Competition (Friday 18:15-19:30, L13-16) 
Week 13
(May 6-10)

 Nutrigenomics
ppt / with voice: ppt

Gametogenesis, prenatal genetic testing
ppt

Week 14
(May 13-17)

Gene therapy
ppt

From genes to bedside
ppt

 

Course information

 

Dear Students! Welcome to the Genetics and Genomics course! In accordance with the Regulations for Studies and Examinations (RSE), we would like to inform you about the most important information for the successful completion of the course. If there are any changes, we will inform you on our website and via Neptun messages. 


To obtain a signature:

Attendance at the exercises is compulsory and will be checked.  More than three absences (regardless of the reason) will invalidate the semester. A valid semester is a condition for passing the exam. Practical absences may be made up during the current teaching week in parallel practical courses, after prior consultation with the practical teachers. It is not possible to make up missed practice. Students will be evaluated to get signature (validate the semester) by their supervisors (they can check their signature in Neptun from the first week of the examination period).


Midterm evaluation:

Twice during the semester, you will be given the opportunity to take a written test to measure your knowledge of the course material, on the 6th and 11th week of the practical. This will cover both theory and practical material. The written tests will be available on the Moodle interface, with 20-20 questions to be answered for 20-20 points (20 minutes). 

Completion and passing the test is not a condition for the end-of-semester signature, therefore there is no possibility to make up or correct the test.

The result of the midterm counts towards the bonus points.

In the lectures, you will be asked 3 questions (Moodle test) related to the given topic, and you can also collect points (max 20 in total) for good answers. The lectures can score more than 20 points in total, but only 20 points will be taken into account for the evaluation.

Bonus points can be used for semifinal exam and competition invitations according to the following rule.

Anyone who reaches 45 bonus points during the semester:

  1. Is invited to the competition
  2. The competition is 45 points (50 minutes) and there are no questions on epigenetics and cytogenetics
  3. If you use the bonus on the semifinal exam, your test will also be 45 points and you will not receive questions in cytogenetics and epigenetics.

 

Semifinal exam (colloquium) grade is awarded on the basis of:

The exam (time and place announced in Neptun) - 50-minute written test: 60 points. To pass the written exam: 50% (30 points) of the test score. Bonus points earned during the semester may be used for the exam. If the mid-term score reaches 45 points, the test is 45 points only and there are no questions in epigenetics and cytogenetics.  Your score will start from 15 points to which you will add the points earned on the exam.


Semifinal exam (colloquium) assessment
:

During the examination period from 21 May 2024 to 12 July 2024, a (written) colloquium in Genetics and Genomics will be taken via Moodle. Applications for the examination can be made only via Neptune, for free places, according to the deadlines indicated in the RSE.

The course material for Genetics and Genomics, and therefore also for the colloquium, is the eBook (see eBook tab) and the lectures and exercises. In the exam, in addition to reviewing the course material, synthesis of knowledge is required.

Plan your exam schedule carefully! Please note that it may take several working days to correct written test results and to administer the results. Therefore, if possible, please do not schedule your exams for the last week, as you may not be able to register in time for the next semester's courses. You can check your colloquium marks in Neptune and corrected test in Moodle. Students who do not appear for the exam despite having registered for the exam must provide written proof of their absence within 3 working days by sending a written document to the email address of the G&G tutor, otherwise they will be charged the fee for the unexcused absence.

Score

Grade

0-29

1

30-37

2

38-45

3

46-53

4

54-60

5

 

Competition:

During the semester we will organize a study competition, which is expected to take place in week 12, on an invitation basis. The competition will be open to students who have scored at least 45 points in the semester. Participation in the competition is not compulsory for those invited, and there is no possibility of substitution if you do not participate.

According to the current “Study and Examination Rules” students, who achieve the best results will be offered an exam grade by the next:

a) reach the top 10%: excellent (exemption)

b) reach the top 10.1-20%: good (exemption)

 

Required reading:

  • Csaba Szalai (Ed.): Genetics and genomics e-book: http://gsi.semmelweis.hu/index.php/en/ 
  • Lecture presentations and text documents on the website


Recommended literature:

  • Falus A. (ed.): Chapters in genome-scale biology. Semmelweis Publishers, 2006.

 

Other information:

On the Institute's website (http://gsi.semmelweis.hu/), you can find further information about the Institute and its teaching (e.g. e-mail addresses of the trainers, teaching aids), the topics of the tests and exams, and presentations related to lectures and practical’s. The website will be continuously updated throughout the semester. The educational material on the website is password protected. The password will be announced during the exercises, can be found in the Neptun system under Courses / Course data / Basic data / web address or can be obtained from the tutor.

 

Contacts

Job title

Name

Room

Departmental Education Administrator

Andrea Kovács

NET 623

Tutor

Dr. Hargita Hegyesi

NET 621

Teacher in charge of the subject and Head of the Department

Prof. Edit Buzás

NET 717


If possible, academic matters are handled electronically
. For information on how to contact us in person, please contact the academic administrator by phone or email.

Important note: the above may be subject to change if warranted by an epidemic (or force majeure) situation.

 

Ebook

 

Medical Genetics and genomics ebook:  pdf (updated version of 2022)

Methods in genetics: pdf

Genetics and genomics glossary: pdf (collection of terms introduced during the semester, you can expect to find them in the competition and exam tests)

 

 

Exam

 

Exam topic list: doc

 

 

 

Consultation

 

Consultations in the exam period:

Date

Time

Room/Zoom URL

21.05. Tuesday

9:00

NET L13

27.05. Monday

10:00  NET L15 

03.06. Monday

9:00

NET L14

10.06. Monday

10:00

https://semmelweis.zoom.us/j/93413129909

17.06. Monday

   

24.06. Monday

10:00

NET L13

01.07. Monday

   

 

 

 

 

 

Competition

 

Results of the Csaba Szalai Memorial Competition

  Neptun code Result
1st prize C5RDRI excellent (5)
AHOQ3F excellent (5)
JKIHVH excellent (5)
2nd prize F3F504 excellent (5)
QTWNOV excellent (5)
H090W6 excellent (5)
FOT245 excellent (5)
3rd prize KEVEC8 excellent (5)
YHSD5M excellent (5)
FA1PKG excellent (5)
  ZQRDFN excellent (5)
  DRQ6SR excellent (5)
  OTMZHS excellent (5)
  R7S9CG excellent (5)
  USJLKP excellent (5)
  HDN1HZ excellent (5)
  APYIDL excellent (5)
  ZN3ADZ excellent (5)
  IBEAG7 excellent (5)
  C3KL7W excellent (5)
  MVYKCM excellent (5)
  HJ922O excellent (5)
  IG494G excellent (5)
  FNU24A excellent (5)
  I3VBBE excellent (5)
  UKER6R excellent (5)
  MY54H1 excellent (5)
  CJYTBU excellent (5)
  RILASL excellent (5)
  HBZWAK excellent (5)
  F1TUDF good (4)
  GQIL62 good (4)
  AWJOGX good (4)
  A9E7TK good (4)
  EHSAI4 good (4)
  VB7YM4 good (4)
  A4C08D good (4)
  A6PI8X good (4)
  HMYAPQ good (4)
  N1OAJR good (4)
  MU5LKI good (4)
  JGFZXJ good (4)
  SBZ49M good (4)
  MX8NN3 good (4)
  JG3W3C good (4)
  S7FAUP good (4)
  GTCPB4 good (4)
  Y9KOQC good (4)
  FMS437 good (4)
  VJ7D7U good (4)
  EEDFLG good (4)
  K78UH8 good (4)
  I57J54 good (4)
  ZDCX6S good (4)
  GVC901 good (4)
  KMGPVJ good (4)
  FJOGXI good (4)

Congratulations to the winners!

Please check and accept the offered exam grades in Neptune.
Information on the distribution of certificates and gift vouchers will be sent later.


Csaba Szalai Memorial Competition

Information on the Genetics and Genomics Competition for Medical Students
for the 2023/2024 academic year, 2nd semester

The competition is open to students who have been previously notified in writing (on Neptun).

Date: Friday, May 3 2024, at 18:15
Location: NET L13-16 rooms

 

Participants must present a valid, photo-bearing identification document (e.g., student ID, personal ID) at the competition, and upon request, show it to the supervising teacher. If a student cannot verify their identity in the above manner, they will not be allowed to participate in the competition. A photo of the ID shown on a phone is not valid for identity verification.

Competition Test: Moodle written test with personal attendance.

The competition tasks may include multiple-choice tests, diagram analysis, tabular tasks, decision-making questions, and short essay questions.

50 minutes are allocated for 45 questions.

Grading the competition tests may take up to two working days.

The announcement of competition results is expected to be available on the Moodle platform from Wednesday, May 8, 2024, starting at 2:00 p.m.

Competition winners may receive a certificate and a gift voucher, and they will receive personal notification via Neptune message.

According to the current “Study and Examination Rules” students, who achieve the best results will be offered an exam grade (exemption) by the next:

a) reach the top 10%: excellent (exemption)

b) reach the top 10.1-20%: good (exemption)

If you have exemption, you can check the entry in Neptune. If you accept the grade in Neptune, you do not need to take the exam.

We wish you good learning and a successful competition!

 

Competiotion topic list: doc

 

 


The user name and password are published in the NEPTUN.


Course coordinators:
Biology:

Dr. LAJKÓ, Eszter

Immunology:
Dr. HOLUB, Marianna
+36 1 210 2930 / 56234

Genetics and Genomics:
Dr. HEGYESI, Hargita
+36 1 210 2930 / 56326

Academic (Neptun) administration:
+36 1 210 2950
+36 1 210 2930 / 56253

Office hours of course coordinators >>>

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