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Clinical Genomics I

NEPTUN: DI0043KV_1M

Clinical module – compulsory optional subject

Lecturer: Prof. Mária Judit Molnár 

The subject gets announced at the 1st semester of each school year.

Date: 1st term/2016/2017 / – at 18.00 every Monday from September

Venue: 1083 Budapest, Tömő Street 25-29. 1083 Budapest, 1st Floor, Lecturer Hall

Aim of the subject: acquiring genomic and genetic based knowledge, contributing the clinical diagnostic, examination, prevention and treatment of hereditary diseases and polygenic multifactorial diagnosis.

Credit: 2 points

The curriculum consists of 14 x 2 lectures:  

1.1. The connection between genes and diseases 1×2 lectures – Mária Judit Molnár                                  

1.2. Genetic in diagnostic 1×2 lectures

Molecular biologic diagnostic in oncology – József Tímár                             

1.3. Genetic background of congenital disorders and dysmorphic syndromes 1×2 lectures – György Fekete                                            

1.4 Pharmacogenetics 1×2 lectures – Mária Judit Molnár                                                          

1.5.– 2.1.8. Clinical manifestations of monogenic diseases 4×2 lectures

  • Neurogenetic diseases – 2 lectures –  Mária Judit Molnár                           
  • Internal Medicine Diseases – 2 lectures – Péter Igaz                                                                   
  • Hematologic diseases – 1 lecture – Irén Haltrich                        
  • Cardiovascular diseases – 1 lecture – Zsolt Szelíd                                             
  • Ophthalmologic diseases – 1 lecture  – János Németh                                                                   
  • Dermatologic diseases – 1 lecture – Sarolta Kárpáti                                  

1.9. Genetic of polygenic and multifactorial common diseases  (genetic factors predisposing to common diseases, diabetes mellitus, hypertension, cardio- and cerebrovascular diseases, autism, schizophrenia, epilepsy, Alzheimer’s disease, venous thrombosis, old age related macular degeneration) 1×2 lecture –  Viktória Reményi                                      

1.10. Basics and clinical application of personalized medicine 1×2 lecture – György Németh / Mária Judit Molnár                                                                         

1.11. Prevention of genetic diseases:  examination, genetic consultancy, risk calculation. Legal and principled aspects. 1×2 lecture – Mária Judit Molnár                                                                   

1.12. Possible treatments of genetic diseases (gene therapy, enzyme replacement therapy, cell therapy, stem-cell, induced stem-cell) 1x 2 lecture – Mária Judit Molnár 

1.13. Genomic bioinformatics in everyday clinical practice 1×2 lecture – Krisztián Buza

1.14. TEST Exam                                                                                                   

Requirements of attendance, the possibilities of supplement: Each student is allowed to absent twice per semester. In case of more than 2 absences the signature for the semester is denied.

Requirement subjects: biochemistry, molecular and cell biology, genetics and genomics.

Requirements of the signature for the semester: Maximum 2 absences, Passing the semester exam test

Type of exam: Written

Evaluation method: test exam at the end of the semester

Pass: 60% Satisfactory: 70% Good: 80% Excellent: 90% and above

Exam requirements: acquiring the knowledge on the basis of the above syllabus

How to apply for the exam: –

Way of modifying the application for the exam: –

Students who are absent from the exam are required to submit: an original medical certificate. If the absence is authorized, the student can make arrangements with the instructor to make up for the exam.

Connecting notes, books, study aids, literature: Papp Zoltán (szerk.): Klinikai genetika. Golden Book Kiadó, Budapest, 1995. Oláh Éva: A klinikai genetika alapjai. Medicina, Budapest, 1999. Turnpenny PD, Ellard S: Emery’s Elements of medical Genetics. Chirchill Livingstone 13th ed. 2007.   

The presentations of the lectures can be found on the “Knowledgebase” site at: http://lib.semmelweis.hu/