Genetics and Genomics (AOKGEN738_1A)
Faculty of Medicine, II. Semester 2024/2025

Topic list

 

Lectures

Monday 14:30-16:00
NET Green Lecture Hall

 Practices

Monday-Friday
NET L13-L16

Week 1
(Feb 10-14)

Introduction to human genetics
ppt / with voice: video

Genetic aspects of atypical mitosis and meiosis
ppt

Week 2
(Feb 17-21)

Cytogenetics
ppt / with voice: video

Cytogenetics I
ppt

Week 3
(Feb 24-28)

Epigenetics
ppt / with voice: audio

Cytogenetics II
ppt

Week  4
(Mar 3-7)

Genetic variations
ppt / with voice: video

Disease examples
ppt

Week 5
(Mar 10-14)

Monogenic inheritance
ppt / with voice: video

Introduction to pedigree analysis
ppt   ppt

Week 6
(Mar 17-21)

Role of sex in inheritance
ppt / with voice: video

Midterm I
doc
Methods in genetics and genomics
ppt

Week 7
(Mar 24-28)

Oncogenetics
ppt / with voice: video

Autosomal dominant inheritance (AD)
ppt   ppt

Week 8
(Mar 31 - Apr 4)

Complex inheritance
Population genetics
ppt / with voice: video

Autosomal recessive inheritance (AR)
ppt

Week 9
(Apr 7-11)

Introduction to genomics
Genetic screening
ppt / with voice: video

Sex-linked inheritance
ppt

Week 10
(Apr 14-18)
Friday holiday

Genetic therapy
ppt / with voice: video

 Mon-Thu:
Midterm II
doc

 Fri:
Holiday

Week 11
(Apr 21-25)
Monday holiday

Holiday

 Mon:
Holiday

Tue-Thu:
Complex inheritance I
ppt / solutions: ppt

Fri:
Midterm II
doc

Week 12
(Apr 28 - May 2)
Thursday-Friday holiday

Pharmacogenomics
ppt

  Mon:
Complex inheritance I
ppt / solutions: ppt

Tue-Wed:
Complex inheritance II
ppt / solutions: ppt

Thu-Fri:
Holiday

Competition: Wednesday 18:00-20:00, L13-16
Please find information and keywords under the Competition tab
Week 13
(May 5-9)

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

Mon:
Complex inheritance II
ppt / solutions: ppt

 Tue-Wed:
Gametogenesis, prenatal genetic testing
ppt

Thu:
Complex inheritance II
ppt / solutions: ppt

Fri:
Complex inheritance I-II
ppt / solutions: ppt

Week 14
(May 12-17)

Nutrigenomics
ppt / with voice: ppt

Mon: 
Gametogenesis,
prenatal genetic testing
ppt

  Tue-Wed:
From genes to bedside
ppt

Thu-Fri:
Gametogenesis,
prenatal genetic testing 
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 10th 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 (from the 2nd-to 14th), 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. In the competition (45 points, 50 minutes) there will be 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 19 May 2025 to 11 July 2025, 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. Until the competition is invited (you must reach 45 points), you can collect bonus points on the last week of the lecture (week 10). 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
+36 1 210 2950
This email address is being protected from spambots. You need JavaScript enabled to view it.

Tutor

Dr. Hargita Hegyesi

NET 621
This email address is being protected from spambots. You need JavaScript enabled to view it.

Teacher in charge of the subject and Head of the Department

Prof. Edit Buzás

NET 717

 

As far as 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:  pdf 

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)

Nutrigenetics and nutrigenomics: pdf 

 

 

 

 

Exam

 

Exam topic list: doc (updated: 13.05.2025)

 

 

 

 

 

 

Consultation

 

Consultations in the exam period:

Date

Time

Room / Zoom URL

Passcode

19.05. Monday

9:00-10:00

NET L13

 

26.05. Monday

10:30-11:30

NET E20  

02.06. Monday

10:00-11:00 

 NET L13

 

06.06. Friday

10:00-11:00 NET L13  

16.06. Monday

11:00-12:00 NET L13  

23.06. Monday

11:00-12:00

NET L15  

30.06. Monday

8:00-9:00 NET L13  

 

 

 

 

 

 

 

Competition

 

Results of the Csaba Szalai Memorial Competition

 

Neptun code

Grade

CSWWXV

jeles (5)

XY10BP

jeles (5)

CEEH5W

jeles (5)

C0NFXQ

jeles (5)

H612O8

jeles (5)

ZZC235

jeles (5)

B1HXEV

jeles (5)

CGJVLV

jeles (5)

H3DBEZ

jeles (5)

CPN9CP

jeles (5)

CFCZ13

jeles (5)

ZTNSCA

jeles (5)

S0S85P

jeles (5)

JQNRMK

jeles (5)

BFZYAU

jeles (5)

W2ZR2O

jeles (5)

K1SC6H

jeles (5)

KO8RX0

jeles (5)

GAT69J

jeles (5)

R74E98

jeles (5)

ETALSB

jeles (5)

EL0BGY

jeles (5)

EXY2DG

jeles (5)

XF8M1D

jeles (5)

M022I8

jeles (5)

HUMGJR

jeles (5)

VZUSZX

jeles (5)

JLAT09

jeles (5)

B4ABR9

jeles (5)

FBXD31

jeles (5)

WEPFT6

jeles (5)

B0FFJZ

jeles (5)

HJ81WS

jeles (5)

BCBDEL

jeles (5)

D0WUB2

jó (4)

HF9LW8

jó (4)

BSX6J1

jó (4)

IVILLP

jó (4)

ZTOV6K

jó (4)

PN15HS

jó (4)

B0K9U0

jó (4)

G2HNNO

jó (4)

C6H60Z

jó (4)

JLOU6B

jó (4)

B1XKWM

jó (4)

GP0E50

jó (4)

ENGTC7

jó (4)

VB2VP1

jó (4)

BWFFOR

jó (4)

FEP131

jó (4)

EOKWJ7

jó (4)

INQ4KO

jó (4)

U7AJQI

jó (4)

UPAU6A

jó (4)

OPP6EC

jó (4)

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jó (4)

GAB1VH

jó (4)

INYAOZ

jó (4)

E3LINT

jó (4)

RYO5H1

jó (4)

C7ANUN

jó (4)

XZXW4E

jó (4)

V6IS7Q

jó (4)

SD74VE

jó (4)

EWLXX4

jó (4)

CNPH3T

jó (4)

QJA1UY

jó (4)

FE8CC1

jó (4)

NPQ4V6

jó (4)

Dear Student,

If you have not been absent from more than three practical sessions and have therefore received the end-of-semester signature, your final grade for the Genetics and Genomics course is now available in Neptun. Please ensure that you confirm (accept) the grade.

By accepting the grade, you will have officially completed the course.

If you choose not to accept the grade, you will be required to take the exam. Should you accept the grade but later wish to improve it, you must submit a formal request. In such cases, the current grade will be deleted, and you will be allowed to register for the exam.


Please note that retaking the exam involves the risk of receiving a lower or higher grade. All retake examinations will be conducted using the simplified 45-point test format.


We wish you continued success in your studies!. G&G teachers

 

 


Csaba Szalai Memorial Competition

 

Information on the Genetics and Genomics Competition for Medical Students
for the 2024/2025 academic year, 2nd semester

 

Keywords for the competition: doc

 

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

Date: Wednesday, Apr 30 2025, at 18:00
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, 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 6, 2025, 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!

G&G teachers

 

 

 

 

 


The user name and password are published in the NEPTUN.


Course coordinators:
Cell Science, Cell 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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