The program included representatives from 14 countries in Central and Eastern Europe from a wide range of disciplines in clinical laboratory genetics, molecular biology, clinical genetics such as cardiogenetics, ophthalmic genetics, neurogenetics, oncology, paediatric neurology, neonatology. Interactive presentations and practice-oriented workshops covered the different genetic methodologies and technologies available for the prediction, diagnosis and selection of optimal therapies for rare diseases. As for the integration of genomics into clinical practice, essential aspects such as the interpretation of genetic test results, pre- and post-test genetic counselling and the development of multidisciplinary disease management based on different disciplines of medicine were covered.
In the course of the training, the participants discussed the importance of rare disease registries and databases in facilitating the diagnosis and management of rare diseases, as well as the challenges and opportunities for data sharing and confidentiality.
Seminars on precision medicine and targeted therapies explored the potential of precision medicine and targeted therapies for the treatment of rare diseases, including gene therapy, cell therapy and small molecule drugs. The training covered the ethical, legal and social aspects of clinical genetics and genomics in the diagnosis of rare diseases, including issues related to informed consent, genetic discrimination and access to genetic testing and treatment. The ultimate goal of the course was to improve the diagnostic skills of participants and to facilitate scientific collaboration in neighbouring countries.
The two-day training was held in the laboratory park of the Institute of Genomic Medicine and the Semmelweis Salon, led by Dr. Mária Judit Molnár, Director of the Institute, and coordinated by all the institute’s lecturers, research and medical colleagues. Based on the feedback of the participating renowned experts, they are looking forward to continuing the tradition of this international interdisciplinary course in an outstandingly friendly atmosphere of academic “winter school”, providing comprehensive knowledge of high professional standards, where representatives from each country could showcase the methodologies and possibilities common in their respective countries.
Institute of Genomic Medicine and Rare Diseases
Translation: Viktória Kiss
Photo: Institute of Genomic Medicine and Rare Diseases