Recommendations on the Organization of Care for Bulgarian Patients with RASopathies, Adopted Within the Framework of The RASopathies – Unknown Problems and Future Perspectives International Scientific Meeting
DOI:
https://doi.org/10.14748/j05ky241Keywords:
RASopathies, recommendations, expert centres, European networksAbstract
On 1–2 November 2024, scientists and clinicians with different backgrounds, as well as patient advocates, gathered in Varna for The RASopathies – Unknown Problems and Future Perspectives international scientific meeting. The event was dedicated to the rare genetic conditions of the RASopathy group. Various aspects of the diagnostics, clinical presentation, and treatment options were discussed during the scientific programme. Additionally, experts from different fields took part in two round table discussions that were held during the meeting. The latter aimed at highlighting the challenges that care providers, patients, and their families face in the complex care for patients with rare diseases, as well as proposing directions for improvement in our country. Among the main issues that were discussed were the availability and organization of genetic testing, patient referral, funding for expert centres for multidisciplinary care, participation in European reference networks and registries, and transition to adult care. The current article is a summary of the discussions that took place during the meeting and presents the participants’ personal views on the discussed issues. The authors and participants agreed upon some proposals and recommendations regarding the care for patients with RASopathies in Bulgaria that we believe are relevant for discussion among the medical community.
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