1. komponenta

Lecture type	Total
Lectures	30
Practicum	30

* Load is given in academic hour (1 academic hour = 45 minutes)

LEARNING OUTCOMES:
1. To be able to define the term molecular diagnostics and personalized medicine;
2. To be able to recognize the role of molecular diagnostics in disease prevention and diagnostics;
3. To be able to recognize the role of molecular diagnostics in disease therapy and monitoring;
4. To be able to define the molecular basis of the most common human hereditary diseases and the current possibilities of their molecular diagnostics;
5. To be able to apply and incorporate the scientific findings into the evaluation of possibilities for molecular diagnostics in cases from the clinical practice

COURSE CONTENT :
The course integrates the knowledge in the field of molecular-genetic basis of human diseases and current methods and approaches used in molecular diagnostics.

LECTURES:
1. Introduction to molecular diagnostics of human diseases (historical review, the development of laboratory medicine from clinical cytogenetics to modern molecular diagnostics, biobanking);
2. Scientific projects in the field of molecular genetics important for the development of molecular diagnostics (Human genome project, 1000 genome project, HapMap project, Cancer genome project, SNP polymorphisms and genome variability);
3. Molecular biology methods and their application to molecular diagnostics (specific issues regarding the work in the molecular diagnostics laboratory, types of specimens which can be used for molecular diagnostics , introduction to the most commonly used methods in molecular diagnostics);
4. The use of proteomics in molecular diagnostics (introduction to basics of the proteomic analysis and its possible applications in molecular diagnostics);
5. Molecular diagnostics of monogenic diseases (cystic fibrosis, neurofibromatosis type 1, chronic myeloid leukemia)
6. Molecular diagnostics of hereditary syndromes (FAP, MYH polyposis, HNPCC, inflammatory bowel disease);
7. Molecular diagnostics of hereditary tumors (brast cancer, gastric cancer, familial cancer, molecular stratification and subclasification of tumors)
8. Pharmacogenetics in oncology (inhereted and aquired pharmacogenetic markers and antitumor therapy, therapeutic efficiency and resistence to therapy);
9. Molecular diagnostics in endocrinology (diabetes and metabolic syndrome);
10. Molecular genetics od neurodegenerative diseases (Alzheimer 's and Parkinson's disease);
11. New research topics in the field of molecular diagnostics (miRNA, circulating DNA and mRNA, microbiome).

PRACTICAL WORK:
1. introduction to the basic of molecular-genetic methods and approaches used in a molecular diagnostics laboratory (DNA sequencing , HRM, microsatellite markers, PAA electrophoresis, RFLP);
2. introduction to linkage analysis as a method for indirect molecular diagnostics of hereditary diseases;
3. introduction to direct methods of mutation detection in the molecular diagnostics of sporadic and hereditary diseases;
4. introduction to the pedigree drawing and interpretation.

1. Ambriović Ristov A i sur. Metode u molekularnoj biologiji. odabrana poglavlja
2. Revijalni i znanstveni članci, poglavlja iz prethodno navedenih knjiga predloženi od strane predavača na kolegiju
3. Barić I, Stavljenić-Rukavina A. Racionalna dijagnostika nasljednih i prirođenih bolesti. Medicinska naklada. odabrana poglavlja
4. Bruns DE, Ashwood ER, Burtis CA. Fundamentals of Molecular Diagnostics. Saunders, Elsevier. odabrana poglavlja
5. Nussbaum RL, McInnes RR, Willard HF. Genetics in medicine. Saunders, Elsevier. odabrana poglavlja

Izborni predmeti - Biologija čovjeka - Regular study - Molecular Biology