People with multiple sclerosis (MS) are confronted with a number of important uncertainties concerning many aspects of the disease. These include diagnosis, prognosis, disease course, disease-modifying therapies, symptomatic therapies, and non-pharmacological interventions.While people with MS demand adequate information to be able to actively participate in medical decision making and to self manage their disease, it is shown that patients’ disease-related knowledge is poor, therefore guidelines recommend clear and concise high-quality information at all stages of the disease.
The primary objectives are to evaluate the effectiveness of information provision interventions for people with MS. Further objectives are to evaluate the components and the developmental processes of the complex interventions used, to highlight the quantity and the certainty of the research evidence available, and to set an agenda for future research.
Information provision for people with MS seems to increase disease-related knowledge, with less clear results on decision making and quality of life. The included studies reported no negative side effects of providing disease-related information to people with MS. Interpretation of study results remains challenging due to the marked heterogeneity of interventions and outcome measures. More information you can find here.
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. More information you can find 
Despite the fact that a considerable number of patients diagnosed with childhood-onset rare diseases (RD) survive into adulthood, limited information is available on the epidemiology of this phenomenon.This study describes the epidemiology of transition in a population of RD patients, using data from the Veneto Region Rare Diseases Registry (VRRDR), a web-based registry monitoring since 2002 a consistent number of RD in a defined area (4.9 million inhabitants). The data reported can be considered as minimum values for estimating the size of this increasing population. These figures are valuable for clinicians, patients and health planners. More information you can find 
A conference on the topic “Is HTA for personalized medicine products, personalized?” was held on 12th and 13th of October, 2018 in Metropolitan hotel in Sofia. The purpose of the conference was presenting and discussing features in HTA products of the precise personalized medicine: purposeful therapies, consecutive diagnostics, and innovative medical products about personalized treatment. On each topic were speaking representatives, experts in the specific sphere such as the HTA Commission, specialist, lecturers, students, Pharmaceutical Faculties and others.
Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) is established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases.
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 
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 
On 24.02.2018