Projects / Programmes
Development of Slovenian national hub for European reference networks
| Code |
Science |
Field |
Subfield |
| 3.05.00 |
Medical sciences |
Human reproduction |
|
| Code |
Science |
Field |
| B007 |
Biomedical sciences |
Medicine (human and vertebrates) |
| Code |
Science |
Field |
| 3.02 |
Medical and Health Sciences |
Clinical medicine |
European reference networks, ERN
National hub
Rare diseases
Orphanet network
official designation - national ERN coordination hub
Researchers (13)
| no. |
Code |
Name and surname |
Research area |
Role |
Period |
No. of publicationsNo. of publications |
| 1. |
04041 |
PhD Jurček Dimec |
Computer science and informatics |
Retired researcher |
2019 - 2021 |
101 |
| 2. |
22621 |
PhD Polonca Ferk |
Metabolic and hormonal disorders |
Researcher |
2019 - 2021 |
142 |
| 3. |
26061 |
PhD Helena Jaklič |
Human reproduction |
Researcher |
2019 |
37 |
| 4. |
37651 |
Esada Kerić |
|
Technical associate |
2020 - 2021 |
0 |
| 5. |
15355 |
PhD Branimir Leskošek |
Public health (occupational safety) |
Researcher |
2019 - 2021 |
182 |
| 6. |
23434 |
PhD Luca Lovrečić |
Human reproduction |
Head |
2019 - 2021 |
166 |
| 7. |
53979 |
Simona Petač |
|
Technical associate |
2019 |
0 |
| 8. |
10458 |
PhD Borut Peterlin |
Human reproduction |
Researcher |
2019 - 2021 |
852 |
| 9. |
28621 |
Bernarda Prosenc |
Human reproduction |
Technical associate |
2019 - 2021 |
0 |
| 10. |
34402 |
PhD Nuša Trošt |
Human reproduction |
Researcher |
2019 - 2021 |
10 |
| 11. |
36368 |
PhD Marko Vidak |
Medical sciences |
Researcher |
2019 - 2021 |
22 |
| 12. |
54394 |
Mateja Vinkšel |
Human reproduction |
Researcher |
2020 - 2021 |
0 |
| 13. |
53977 |
Ana Nyasha Zimani |
Human reproduction |
Researcher |
2020 - 2021 |
0 |
Organisations (2)
Abstract
Different healthcare systems in the European Union countries strive to provide high-quality and cost-effective services. This is particularly challenging in the area of rare diseases, which affect 6-8% of general population. Namely, despite the rarity of each of the rare diseases (RDs), there are currently 6000 rare diseases recognized. According to rough estimates, there are 120,000-160,000 patients with RD in Slovenia and about 30 million EU citizens with one of the RD in Europe.
The field of rare diseases has been recognized as a priority and one of the major challenges at the EU level, which, together with national governments, has set itself the goal of improving the recognition and treatment of RD through multiple mechanisms - by enhancing cooperation at European level, by coordinating and supporting national plans for rare diseases, and with the directive on patients' rights in cross-border healthcare. The European Commission accepted two decisions - Commission delegated decision set out the criteria and conditions that must be met by European reference networks (ERN) and healthcare providers wishing to join an ERN network; and Commission implementing decision set out the criteria for establishing and evaluating European reference networks and their members, and for facilitating the exchange of information and expertise. Due to the specificity of EU member states, it is envisaged that specialized reference centers are recognized and appointed at the level of relevant bodies in each country. In Slovenia this designation is done by the Ministry of Health. Only after designation, the centers can apply for joining an individual ERN.
Twenty-four (24) European Reference Networks (ERNs) were established in 2017, divided
in different thematic areas. These virtual networks link healthcare providers across Europe
with the goal of tackling complex or rare diseases that require highly specialized treatment
and a concentration of knowledge and resources. ERNs are expected to strengthen their
capabilities over the next five years to help thousands of European patients suffering from
rare or complex diseases. The main objectives of the ERNs are to raise awareness of RDs
and their complex clinical signs and symptoms in both the professional and general public,
to improve the possibility of early and accurate diagnosis and, as far as possible, to provide
effective treatment, if available.
There are many stakeholders involved in ERNs and RDs, and it is difficult to cover all areas
of RDs - correct recognition, diagnosis, treatment, supportive therapy, cooperation with
patient associations, psychological and social support. In addition, only tertiary level healthcare
institutions at the national level can cover all or most of the thematic areas. In small countries,
rare diseases represent an even bigger challenge. Many RD occur with a prevalence of 1/50,000
or even 1/1,000,000, which means that, on average, a doctor does not normally even meet
such a patient in his lifelong professional career. Or maybe only treats one. In more than
80%, RD are of genetic origin. The treatment and monitoring of RD patients has some
common issues due to their rarity, genetic nature of the disease, disabilities of several
organic systems and chronic disease. Their rarity requires a multidisciplinary approach,
specialist treatment with highly skilled professionals, special diagnostic approaches,
and complex treatment. Because of the chronic nature of these diseases psychological
and social support is needed, and due to the genetic nature often the whole family is under
consideration/support/ treatment.
There is currently 6000 recognized rare diseases and it is impossible to be competent for all.
Moreover, it is impossible to expect that Slovenia has top experts for each of them or groups
of individual diseases in all 24 existing thematic areas / groups for which ERNs are already
in place. Last but not least, knowledge in the field
Significance for science
Different healthcare systems in the European Union countries strive to provide high-quality and cost-effective services. This is particularly challenging in the area of ??rare diseases, which affect 6-8% of general population. Namely, despite the rarity of each of the rare diseases (RDs), there are currently 6000 rare diseases recognized. According to rough estimates, there are 120,000-160,000 patients with RD in Slovenia and about 30 million EU citizens with one of the RD in Europe.
The field of ??rare diseases has been recognized as a priority and one of the major challenges at the EU level, which, together with national governments, has set itself the goal of improving the recognition and treatment of RD through multiple mechanisms - by enhancing cooperation at European level, by coordinating and supporting national plans for rare diseases, and with the directive on patients' rights in cross-border healthcare. The European Commission accepted two decisions - Commission delegated decision set out the criteria and conditions that must be met by European reference networks (ERN) and healthcare providers wishing to join an ERN network; and Commission implementing decision set out the criteria for establishing and evaluating European reference networks and their members, and for facilitating the exchange of information and expertise.
Twenty-four (24) European Reference Networks (ERNs) were established in 2017,
divided in different thematic areas. These virtual networks link healthcare providers
across Europe with the goal of tackling complex or rare diseases that require highly
specialized treatment and a concentration of knowledge and resources. ERNs are
expected to strengthen their capabilities over the next five years to help thousands
of European patients suffering from rare or complex diseases. The main objectives
of the ERNs are to raise awareness of RDs and their complex clinical signs and
symptoms in both the professional and general public, to improve the possibility of
early and accurate diagnosis and, as far as possible, to provide effective treatment,
if available. There are many stakeholders involved in ERNs and RDs, and it is difficult
to cover all areas of RDs - correct recognition, diagnosis, treatment, supportive therapy,
cooperation with patient associations, psychological and social support. In small
countries these 24 thematic areas represent an even greater challenge.
Good practices, network and partner tasks, dissemination of information and system development is an ongoing activity that is developing as the network activities are progressing. The establishment of ERNs itself announced the beginning of a new approach for treating patients with rare diseases, which Europe's health systems will have to get accustomed to and adapt to. The objective, of course, is an important added value for all stakeholders. For thematic groups in which Member States do not have ERM membership, there may be an inadequate provision for the knowledge and information exchange. Therefore, national hubs/national nodes are crucial.
It is now a key moment for the establishment of national nodes, as they have not yet been established anywhere in Europe. Slovenia is one of the first countries where we already have a designated national node - namely, the Ministry of Health already designated the proposed project leader and her team. And with proposed project, it can become a model for other Member States.
Within the framework of the proposed project, we are addressing all the above mentioned challenges by harmonizing the situation in Slovenia, finding best practices and developing the field of ERN in Slovenia. In cooperation with the representatives of the ERN Board of Member States and those ERNs, where we do not have partners, we make an important contribution to the international development of the ERN field.
Information and training courses for health professionals and other key stakeholders will be easily acces
Significance for the country
A direct benefit can be expected due to unified practices and procedures in joining the ERNs and managing ongoing activities, as accession and organization are novelty for all stakeholders, including the whole health infrastructure, the Ministry of Health.
An indirect benefit is expected when the field of ERNs will be regulated, as we expect improved early diagnostics and more successful treatment and rehabilitation of patients with RD, which contributes to increased capacity of patients and decreased absenteeism from work.
An important aspect is also easier access to information related to specific rare diseases also for users from the economy. Cohorts with data on patients with rare diseases that cannot be compiled in limited national frameworks can be a source of new clinical knowledge.
Most important scientific results
Most important socioeconomically and culturally relevant results
Annual report
2019,
2020
