During the training program the main topics of the meeting and the practical part were presented by the stuff of the Department of Biology and Medical Genetics 2nd faculty of Medicine, Charles University of Prague and “Motol” University Hospital, 1st Faculty of Medicine, Charles University including Head of Department of Biology Prof. Zdenek Sedlacek, Head of Institute of Inherited Metabolic Disorders Prof. Viktor Kozhich, Dr. Martin Magner, Dr. Pavel Jesina, ass.prof Lenka Dvorakova, Head of Laboratory services Karolina Peshkova, Head of Medical Cytogenetics lab of “Motol “Hospital, Dr.Drahuse Novotna, Head of Clinical Genetics Dr. Marketa Havlovicova.
The summary of the main activities were:
- the guided tour in Metabolic Diseases Hospital through genetic diagnostic laboratory and presentation the methods used in biochemical, lysosomal, tissue culture laboratories and laboratory of DNA diagnostics
- training on basic elements of genetic diagnostics and general questions of metabolic diseases, screening programs, the list of mandatory screened diseases, steps of screening process, follow up of diagnosed newborns
- the guided tour in Metabolic Unit of Department of Pediatrics and Adolescent Medicine , presentation on lysosomal storage disorders and mitochondrial diseases.
- participation in genetic counseling routine processes, clinical examinations and genetic diagnostics and treatment activity
- the guided tour through molecular genetic diagnostics department in “Motol” Hospital with presentation methods and practices of different cytogenetic approaches and strategies for precise diagnostics, experienced in EU molecular diagnostic lab.
- presentation conventional karyotyping in prenatal and postnatal areas, cultured cells handling, presentations on different cytogenetic cases with FISH application for breakpoints clarifying
- presentation molecular karyotyping by CGH
- the guided tour in Clinical Genetics unit and presentation the method of face 3D reconstruction used in dysmorphology practice
-discussion on genetic counseling in patients with autism and intellectual disability
- introduction of medical genetics education system in Czech Republic, through e-learning - platform experienced in Prague Charles University based on “Moodle” which is a course management system
- introduction the structure and features of the free Open Source software package which is designed to support both educators to create effective on-line courses and students providing personalized learning environments.