Sylabus
Clinical Genetics
Introduction: importance of genetic counseling, indications to genetic laboratory testing, characterization and etiology of genetic diseases, targets and methods of genetic testing.
Genetic in medicine: cooperation of general paediaticians with geneticists, multidisciplinary genetic care, genetics of multifactorial disorders, pharmacogenetics,
“DTC” testing, gene therapy, epigenetics, personalised medicine.
Genetic diagnostics and practical applications: molecular diagnostic situation in clinical genetics, new generation sequencing, molecular cytogenetic diagnostics, modern approaches in clinical genetics.
Specialized genetic counseling: principles of clinical dysmorphology: variation of the norm, oncogenetics and diagnostic scenarios, cardiogenetics and diagnostic scenarios, neurogenetics, genetics of sensory disorders, genetics of intellectual disability and autistic spectrum disorders, inherited metabolic disorders and newborn screening.
Prenatal and perinatal care: primary prevention of congenital anomalies (teratogenesis), periconceptional, prenatal and perinatal care, laboratory methods.
Practical training: syndromology, patient demonstration, searching in genetic databases.
Anotace
Signifikance of genetics in medicine, basis of mocular medicine, biotechnology, gene therapy, methods of clinical genetics, genetical counselling, prenatal diagnostic, clinical cytogenetics, inborn errors of metabolism. Independent solving of selected cases of clinical genetics, discussions.