Genetics (RAD_013)
About Study Course
Objective
To ensure acquisition and improvement of theoretical knowledge and practical skills in genetics in accordance with the requirements of the specialty of physician-andrologist in order to prepare the doctor for certification in the additional specialty of andrologist.
Learning outcomes
1.Recognises genetic pathologies affecting male reproductive function: Kallmann syndrome, cystic fibrosis, etc. Has good knowledge of the diagnosis, strategy, treatment thereof. Can assess the risk of transmission to offspring.
Has good knowledge of karyotype changes affecting male reproductive function (Klinefelter syndrome, translocations, etc.). Can assess the risk of transmission to offspring.
Evaluates the indications for performing various genetic methods in reproductive medicine (karyotyping, FISH and other methods), the impact of the results thereof on reproductive strategies and treatment.
Explains preimplantation genetic screening and preimplantation genetic diagnosis (PGS, PGD) in male and female infertility. Explains the treatment strategy for relevant genetic pathologies.
Has good knowledge of Y-chromosome microdeletions, relationship thereof with sperm quality, indications for detection, the impact of the result on the choice of treatment method.
1.Performs DNA extraction from blood samples.
Performs detection of Y-chromosome microdeletions by PCR method.
Performs karyotype determination in blood samples.
Performs detection of CFTR gene mutations.
Uses the PGT-A method.
1.Has good knowledge of genetic pathologies affecting reproductive function.
Diagnoses genetic causes of infertility, performs genetic counselling in cases of genetic pathology related to reproductive health and family planning.
Able to evaluate the risk of genetic transmission in cases of genetic pathologies, especially in medical fertilisation procedures, and recommend the optimal strategy.
