Syllabus
Goal:
Present state, current possibilities, and perspectives of reproductive medicine and reproductive genetics based on rapid progress in reproductive endocrinology, molecular genetics, molecular cytogenetics, clinical genetics, including recent methods of early prevention, diagnosis, and therapy of human dysfertility.
The basic concept of human fertility disorders, assisted reproduction, and reproductive medicine.
Genetic basis of reproduction system development, disorders of sexual determination, and differentiation.
Ethical and legal basis of assisted reproduction, ART, and reproductive medicine, including early genetic prevention of dysfertility.
Genetic and epigenetic risks of the environment in dysfertility. disorders and of prenatal/postnatal development, their diagnosis, prevention, and therapy by preconception, preimplantation a prenatal care.
DNA instability detection to diagnose the increased risk of novel DNA variants/ pathogenetic mutations associated with disorders of prenatal development, premature miscarriage, intrauterine growth retardation (IUGR), preeclampsia, including postnatally in children and adults with increased risk of neuropsychiatric disorders and dysfertility, including the development of malignancies.
Risks of endocrine/hormonal disruptors on pregnancy, chronic stress, drugs abuse, disorders of lifestyle and nutrition in human dysfertility. Genetic risks of medication, hormonal and oncological therapy, infections, and mutagenic/teratogenic environmental factors that increase the risk of congenital anomalies, severe disorders of prenatal/postnatal development.
Recent methods of molecular genetic and molecular cytogenetic methods of chromosomal aberrations, including Y chromosome microdeletions, in the pathogenesis of dysfertility, developmental disorders, and risk of malignity.
Newest methods of molecular genetic detection of FSH, LH, androgene receptor polymorphism in the risk determination of the ovarian hyperstimulation syndrome, dysfertility, of hormonal dependent cancers, and for individualization of hormonal therapy.
Thrombophilic mutations, CFTR gene, and other pathogenic monogenic mutations detection to prevent dysfertility and other severe developmental disorders including miscarriage.
Immunological problems of dysfertility.
Disorders of sexual determination and differentiation.
Sexology and dysfertility problems.
Specialized reproductive genetic counseling in human dysfertility.
Recent clinical andrology, urology genetic methods of examination, prevention, and treatment of male dysfertility.
Reproductive medicine in indication, diagnosis, therapy, and prevention of female dysfertility, controlled hormonal ovarian stimulation, and risk of ovarian hyperstimulation syndrome.
Laboratory methods of assisted reproduction and of clinical embryology with morphogenetic, molecular genetic, and molecular cytogenetic evaluation of embryo development for the optimal selection of the viable embryos for embryonal transfer.
Cryopreservation of gametes, embryos, and gonads for prospective reproduction after oncological therapy of adults and children. Gonadal tissue/gametes retrotransplantation after their cryopreservation for prospective reproduction of successfully treated children and adult oncologic patients., for prevention of severe post climacteric complications, including cancer prevention, or for indicated postponed reproduction.
Uterus transplantation in the uterus agenesis syndrome and perspectives on ovarian and testicular transplantation for the most severe problems of lost gonadal function, especially after successful, but gonadotoxic oncological therapy.
Present possibilities of gene and stem cells therapy in reproductive genetics and medicine.
Implementation of nutrigenomics and enteral microbiome in dysfertility prevention.
Responsible person: Doc. MUDr. Milan Macek, CSc.
Annotation
Současný stav, možnosti a perspektivy reprodukční medicíny a reprodukční genetiky na základě pokroku reprodukční endokrinologie, molekulární diagnostiky poruch reprodukce a nejnovějšího pokroku biologie, klinické genetiky, molekulární genetiky a cytogenetiky.