Leading specialists from Bulgaria, Sweden, Poland, Italy, the UK and the USA participated in the international scientific conference “RASopathies – Unknown Problems and Future Perspectives" – an event that was organised on 1st and 2nd November in Varna under the project “Enhancement of Translational Excellence Achievement in Medicine (MUVE-TEAM)" of MU-Varna.

The forum was opened by the Vice–Rector for Science and Research Prof. Dr. Violeta Yotova, Head of First Paediatric Clinic with Paediatric Intensive Care Unit (PICU) at University Hospital “St. Marina"–Varna and Director of the Varna Centre of Expertise on Rare Endocrine Diseases (Endo-ERN), which provides multidisciplinary care for patients with RASopathies. Prof.  Yotova emphasised the urgent need to enhance scientific knowledge and timely diagnosis, to raise the awareness among parents, medical professionals, school staff and the community at large in order to provide better care and management of these patients. According to Prof. Yotova it is of utmost importance to seek all opportunities, from the very beginning, to involve patients in the planning and provision of care.

The Conference targeted the issues of people with rare genetic disorders in the group of RASopathies, which include several genetic syndromes with an overall incidence of 1:2000. RASopathies are characterised by disorders in all areas and systems, which requires knowledge of the disease by a wide range of specialists – geneticists, endocrinologists, cardiologists, neurologists, psychologists, biologists, oncohematologists, etc. The aim of the forum was to discuss the directions of modern scientific research in this fundamental for the cells signalling system, as well as to raise the knowledge and awareness of these diseases, thus providing patients in Bulgaria with accurate and timely diagnosis and treatment.

At the forum, participants had the opportunity to be part of a first-of-its-kind discussion on issues regarding the development of science and the best practices in this large group of rare diseases – from genetics and cell biology, through the affected health and psychological issues that both patients and their families go through, to the first attempts at specific treatments. With a view to achieving a higher quality of life for people with rare diseases, the specialists agreed on the need for a multidisciplinary approach to the patients and the creation of centres of expertise specialised in working with RASopathies.   

Round table discussion for leading specialists and young scientists was also on the agenda. The foundations of a scientific collaboration in this field were laid with the aim to create an initial algorithm to improve the diagnosis of RASopathies and to raise the awareness in the society.

Prof. Yotova underlined that in December this year a new major research programme ERDERA was to be announced, which would be funded by the European Union. The programme is worth €380 million, and Bulgaria can benefit from the opportunity to work on the improvement of the fate of people with rare genetic diseases through the centres of expertise on rare diseases. Prof. Yotova pointed out that there are 30 centres of expertise in Bulgaria, and six of them are internationally recognised and are members of European reference networks. Two of these internationally certified centres are in Varna and are located at University Hospital “St. Marina"–Varna.

Experts are convinced that changes in the legislation are very essential in order to combat rare diseases in Bulgaria. “The regulations that concern this problem date back to 2014. Back then, the action plan for rare diseases was extremely relevant, but over the last five years it has become a deterrent to any innovation," underlined Prof. Yotova. According to her, it is mandatory to change the registration of rare diseases in the country and synchronise it with the European practice. In her words, it is also necessary to improve the process of directing patients to centres of expertise so that they could receive timely and adequate care there. This is the only way to bring patients together in large enough groups to conduct research, including through international rare disease registries.

The event is a part of the conference programme within the MUVE-TEAM project and is funded by the European Union under the NextGenerationEU programme, Project No BG-RRP-2.004-0009-C02.

 

GALLERY