The new issue 2 for 2018 of our journal “Rare Diseases and Orphan Drugs” is already published. You can find it on the website of the journal.
Reported prevalence of autism spectrum disorders (ASD) has steadily increased over the past 30 years. Growing ASD patient population highlights a number of medico-social issues and demands sustainable solutions from health, social and educational authorities. Autism Spectrum Disorders in the European Union (ASDEU) is a EU-funded project that is offering an evidence-based ASD public health model, focused on prevalence estimation methods, early detection, early diagnosis and early interventions. Establishment of mechanisms for generation and use of epidemiological data is a key point in planning and implementing health, social and educational activities for ASD. This is а large-scale research task that requires a high degree of coordination and interaction with numerous stakeholders from various jurisdictions. ASDEU main objective is to estimate the prevalence of ASD in the EU. In this paper, we present the protocol for conducting the ASD prevalence study in Bulgaria. More information could be found here.
On 8th-10th of September 2017 in Grand Hotel Plovdiv was held 12th Balkan Congress of Human Genetics and 8th National Conference for Rare Diseases. The newest achievements in the field of dysmorphology, reproductive, prenatal, cancer and neurogenetics, also innovations and trends in personalized and genomic medicine were represented. Highlights also included the current development in technologies and their application in daily medicine. Book of presentations and posters can be downloaded here.
On 24.02.2018, the Institute for Rare Diseases hosted а Тraining workshop on health technology assessment – post-marketing surveillance and performance-based payment of innovative therapies, which was held in Landmark Creek Hotel – Plovdiv. During the day, interesting topics were presented by leading experts in the field such as Prof. Dan Greenberg (Israel), Dr. Edmund Jessop (UK), Prof. Ranganath Lakshminarayan (UK), Mr. Francis Arickx (Belgium), Prof. Rumen Stefanov (Bulgaria) and Dr. Borislav Borissov (Bulgaria). Speakers presented their experience and good practices for implementation of innovative pharmaceuticals and medical therapies. All presentations from the training workshop can be downloaded from here.