The European rare diseases project BURQOL-RD is coming into its most important stage. It will address the socio-economic cost and health-related quality of life of patients with rare diseases and their caregivers through online surveys. The active participation of patients in this project is crucial because it is the very first attempt to explore and define the socio-economic burden that patients and their families and society as a whole experience for rare diseases, and to address and study the health-related quality of life of patients with rare diseases and the effect that the disease has on their everyday emotions and perceptions. BURQOL-RD aims to form a new – improved, more comprehensive and more fair understanding of the problems of the people with rare diseases and their families, their concerns and needs. The survey is completely anonymous and consists of two parts – for the patient and for his/her main caregiver. The patient section is in two versions – for children (under 18) and adults. The study is targeting 10 different rare diseases and is available online on www.burqol-rd.eu/bg.html. Take part in the study. In this way you are not only helping yourself, your family and your patient association, but you are also helping the society and the whole of Europe!
projects
After a competitive scientific evaluation by peers, the E-Rare funding bodies have announced this year’s rare diseases research projects, which are going to be funded. In December 2010 E-Rare launched its third Joint Transnational Call for research proposals on rare diseases. Following two rounds of evaluation, 13 consortia with a foreseen budget of about 9 million euro were selected for funding. The projects cover a wide range of rare diseases including hematologic, metabolic, neurologic and dermatologic diseases as well as congenital malformations while adressing potential therapeutic options using state-of-the-art techniques like pluripotent stem cells, gene therapy vectors and customized animal models. Visit the new E-Rare website to find out more on rare disease research funding and collaboration opportunities.
Тhe new issue of “Rare Diseases and Orphan Drugs” already is available. The edition’s main theme is the growing interest in rare diseases in Eastern Europe and more and more activities in this field. Other highlights include are the summary of the Second National Conference for Rare Diseases, and the results of two major European projects on rare diseases. In the Rare Diseases Library you can find an updated review on acromegaly. We are also offering the Rare Diseases Summer School report as a supplement. Additionally, “Rare Diseases and Orphan Drugs” contains now a 2D barcode for tablets and smartphones.
Less than a month before the Second National Conference for Rare Diseases and Orphan Drugs in Bulgaria, we are back to the topic of events dedicated to rare diseases. Here, however, we will not dwell on how little is known about rare diseases and how much is still to be done on these issues. The philosophy of this kind of events is the direct contact among participants – the exchange of experience, best practices, creating partnerships, joint projects. Rare diseases are very broad topic and many good ideas have already been realized in practice. Learning based on international experience is highly recommended, because, for example, the path which Bulgaria took in 2008 with the adoption of a national plan for rare diseases, has been already taken and done by others. It is absolutely no necessary to make some great discoveries, already adopted and widely recognized tools as the centers of expertise on rare diseases, epidemiological registries, involvement of patients in planning and managing these programs, etc. Just have to be analyzed, adapted and applied on local level.
The rare diseases conferences serve precisely this – to be a place where any rare diseases stakeholder (patients, doctors, health authorities, industry, media) will have access to this useful information on innovations and best practices, could interact with renowned experts on these issues and in own turn to work for their implementation and promotion. The growing number of participants in this kind of events speaks eloquently about their success and usefulness.
In the already traditional for our newsletter blitz-interview we have asked for the opinion of two very important for the rare diseases cause people in Eastern Europe – Mrs. Svetlana Karimova (President of the National Organization of Associations of Patients with Rare Diseases “Genetics”, Russia) and Mr. Vladimir Tomov (President of the National Alliance of People with Rare Diseases, Bulgaria). Our choice was not accidental, because the patients’ feedback is the most precise indicator of the helpfulness and effectiveness of an initiative. Additionally, both Mrs. Karimova and Mr. Tomov have experience from the other side, being co-organizers of past editions of the Eastern European Conference for Rare Diseases and Orphan Drugs.
First of all, what are the challenges of organizing an event, dedicated to a topic, which was untill recently practically unkown in your country?
Vladimir Tomov (VT): A major problem in rare diseases field is the insufficient amount of information. Conferences as a form of information exchange event is the most effective and appropriate way to deal with that. Eastern European countries have specific, very similar characteristics and problems and there is a need to consider them comprehensively and concentrated at specialized events.
Svetlana Karimova (SK):Holding such an event was new for our country, rare diseases topic had just begun to be discussed more widely. In this prospective, the conference was of great importance to all rare diseases stakeholders in Russia. A very big number of doctors and patients stated their intention to participate in the Fifth Eastern European Conference for Rare Diseases and Orphan Drugs, as well as in the parallelly taking place First All-Russian Conference for Rare Diseases. Due to the large size of our country, some of them could not attend for clearly financial reasons. So, in the future we plan direct online translations of these events in order to help more and more people from remote regions in their quest for more information and knowledge for rare diseases.
Is it duffcult to promote rare diseases theme? Who is most interested in rare diseases awareness raising?
VT: Undoubtedly these are the patients and their families. But we must also not forget to inform the medical professionals because of their professionalism and dedication, which are a major factor in the fight against rare diseases, as well as the health authorities, who are also a key participant in the exchange of information.
SK: Working on this matter is not so easy. Health legislation in our country is completely outdated and modernization of the entire health system of the Russian Federation is currently carried out. Serious work is being done on the Citizens’ Health Protection Act, in which it is expected to appear a special text (Article 44) for the first time in Russia, which will be dedicated to the rare diseases field and will regulate the establishment of a federal list of rare diseases (it currently contains 86 disorders) and the maintenance of federal registries for them. We strongly hope that the state authorities will keep their promises and will ensure the implementation of these activities. Huge efforts have been done by both patients and health professionals in Russia to get to this point. These are certainly the most interested parties, but the pharmaceutical industry has its role, too. Recently the regional health authorities have also begun to show significant interest in dealing with rare diseases problems.
Does the international cooperation help in dealing with rare diseases problems in your country?
VT: Based on this kind of cooperation, we receive information that points us in the field of rare diseases, gives us access to definitions, achievements, statistics and best practices. Thus enabling us to anticipate problems that the others have faced years ago and, in turn, we resend this information to less-informed rare diseases stakeholders. On the basis of the international cooperation and experience was established the National Alliance of People with Rare Diseases in Bulgaria.
SK: Of course, especially in informational aspect. It has been now for more than four years as we are actively collaborating with the Information Centre for Rare Diseases and Orphan Drugs and the National Alliance of People with rare diseases in Bulgaria. There is a constant information exchange channel between us and we have been working on joint projects such as the Fifth Eastern European Conference in St. Petersburg, as well as the upcoming Rare Diseases Summer School, which will be attended by many Russian doctors and representatives of health authorities. We are very grateful for that support and cooperation, that we receive also from the Italian National Centre for Rare Diseases and its director, Dr. Domenica Taruscio.
How was the experince gained from the event transferred on local level? What positive outcomes did the conference produce?
VT: At the beginning of the cycle of Eastern European conferences on rare diseases people had no idea even of the definition of a rare disease. Now, we have many rare diseases patients groups and associations, as well as rare diseases task force teams on state level, which are dealing with the specific rare diseases legislative changes.
SK: Indeed we have already gained considerable experience in these issues, but the question is whether our country is ready to take that experience. We have to do “small steps” and it’s very difficult when you know that you can make a big step forward and help in that way many rare diseases patients and their families. Russia is a big country and has its specifics. Not everything that is being done in Europe, can be applied here. A lot of things need to be adapted to our situation.
The Fifth Eastern European Conference really gave power to the formation of the new legislation. Because when we started actively posing questions about rare diseases, it became clear that the direct legal involvement of these issues would be meaningless without the implementation of changes in other directions as well as modernization of our health system. We are very proud to say that this event helped very much for that big break.
How could such events continue further playing important role in rare diseases field?
VT: By keeping regularly holding events of this kind, multiplying the conferences on rare diseases on national level, as well as the symposia and workshops on specific rare diseases. Once the conduct of Eastern European Conferences for Rare Diseases has been delivered outside of Bulgaria, we initiated annual national conferences on these issues. This initiative is observed in both Bulgaria and Russia and we hope to continue in the future.
SK: The implementation of such events is crucial. Besides of offering a large amount of information, they are creating conditions for international contacts and communication between patients and health professionals. The fact that lots of physicians come to such events come shows that they truly and sincerely support their patients’ cause. I really appreciate it very much. The consolidation of efforts in this field is very important for the further promotion of the rare diseases topics worldwide. The common problems provide a basis for work on joint projects and strategies.
What would like to see during the Sixth Eastern European Conference for Rare Diseases and Orphan Drugs, taking place this November in Istanbul?
VT: The greatest need is about the discovery and application of successful therapies for rare diseases, so we expect to hear about new effective and available therapeutic methods and devices. Thus we give hope and strength to patients and their families.
SK: I would like to see more rare diseases stakeholders, which I am pretty sure it will be. I personally recommend paying attention to the poster session, because very often it is offering much more interesting information than that at the plenary sessions’ presentations. I wish god luck and success to the organizers and I would like to take this opportunity to thank them for inviting me as a speaker.
Duration: 16 April 2011 – 16 April 2014
EC Contribution: € 661 402,00
Website: EPIRARE
General objectives:
- to build consensus and synergies to address regulatory, ethical and technical issues associated with the registration of RD patients and to elaborate possible policy scenarios
- creation of a EU platform for the collection of data on RD patients and their communication among qualified users, based on a feasibility study
- define the options for the preparation of a legal basis, the possible scopes to achieve most effective synergies, the corresponding governance framework and possible options for sustainability. The feasibility of registration of a minimum data set common to all rare diseases, designed to inform policy-making, the conditions to admit research-driven disease or treatment-specific modules and the ways to ensure a sustainable data flow will be assessed
Coordinator: Istituto Superiore di Sanità
DISEASE NAME: Steatocystoma multiplex
SYNONIMS: Jamieson disease
ICD10 code: –
ORPHANET number: ORPHA3184
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
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Last modification: 20:00 20.08.2010
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IMPORTANT! IMPORTANT! IMPORTANT!
The information in this site is provided completely free of charge for educational purposes and should not be used for self diagnosis and treatment. In the case of a health problem, please contact your doctor!
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Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is a free educational and information service in Bulgarian and English languages, providing personalized replies to requests from patients, families and medical professionals.
Any medical or health information, provided and hosted on this site is given by medically trained and qualified professionals. The information provided on this site is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her doctor. Confidentiality of data relating to individual patients and visitors to ICRDOD, including their identity, is respected by this website. We undertake to honour or exceed the legal requirements of medical/health information privacy that apply in Bulgaria.
ICRDOD is a project and activity of the Bulgarian Association for Promotion of Education and Science (BAPES) – a non-government non-profit organization, registered under the Bulgarian law on legal persons with non-profit purposes in 2003. For the realization of this website, BAPES utilizes its own funding, received from private donors. The director and all consultants of ICRDOD are contributing on volunteer basis.
ICRDOD AIMS
➢ Facilitate the access of patients with rare diseases to information about the disease affected them;
➢ Providing medical professionals with quality information about rare diseases;
➢ Running a multilingual Internet site about rare diseases and orphan drugs (www.raredis.org) with news, educational topics for patients, doctors and associations, discussion forums, etc.;
➢ Encourage people with rare disease to establish patient associations, which is the way to protect their human rights and to participate in regulatory actions;
➢ Establish contacts between patients/patient groups, who need an information for specialised clinics, clinical trails, treatment, and medical professionals in Europe;
➢ Bridging between patients with rare diseases, researchers and industry;
➢ Lobbying and advocating for adopting of adequate rare disease and orphan drug legislation;
➢ Networking and integrating with the other similar national and international organizations;
➢ Active search for partners for collaboration and support at a national and international level;
ICRDOD TEAM
Assoc. Prof. Dr. Rumen Stefanov, MD, PhD (short CV)
Director of ICRDOD
Orphanet national co-ordinator
Dr. Ralitza Jordanova, MD
Technical assistant and communication with patients/consultants
Orphanet Information Scientist
Mr. George Iskrov
International programmes and projects
Ms. Lilia Popova
Technical assistant and communication with patients/consultants
Assoc. Prof. Dr. Margarita Stefanova, MD, PhD (short CV)
Consultant in human genetics
Assoc. Prof. Dr. Mariana Murdjeva, MD, PhD
Consultant in immunology
Dr. Ivan Ivanov, MD, PhD (short CV)
Consultant in pediatric neurology
Dr. Christo Shipkov, MD, PhD (short CV)
Consultant in surgery
Dr. Dimitrina Konstantinova, MD
Consultant in human genetics
Dr. Pavel Balabanov, MD, PhD (short CV)
Consultant in neurology
Dr. Nikolay Botushanov, MD (short CV)
Consultant in internal diseases and endocrinology
Dr. Iliana Pacheva, MD
Consultant in pediatrics
Dr. Petya Blagoeva, MD
Consultant in psychiatry
Mr. Svetoslav Nikolov
Web programmer and administrator
NK Software
Dr. Vesela Stefanova, DD
Member of the Board of Directors of BAPES
Mr. George Georgiev
Hosting administrator and programmer
Dr. George Stefanov, MD, PhD, MBA
Member of the Board of Directors of BAPES
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Personal data are all kinds of information concerning an individual, which reveals his/her physical, psychological, mental, family, economic, cultural or public identity. The Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) is obliged and engaged with the implementation of all necessary technical and organizational means, in order to protect your personal data from unauthorized access and use.
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There is currently no advertising or sponsored content on the ICRDOD website. To provide quality health information, education and news in a timely manner to our users, we may permit health-related advertising on our site. However, we do not allow outside advertisers to affect the quality or accuracy of information on our site, and we maintain a stringent policy of editorial independence. ICRDOD does not endorse any products. We maintain complete editorial independence with respect to our content in every circumstance. We do not permit advertisers or other third-party sponsors to make changes to the website content. We do not accept advertising that is false, misleading, ineffective, dangerous, or for firearms, alcohol, tobacco, and pornographic products or websites. We do not provide or sell any information to a third party that would allow it to identify a person’s individual medical circumstances or conditions. ICRDOD does not accept “advertorials”. Advertorials are articles provided by sponsors with the sole purpose of promoting a product or service. However, news or articles on www.raredis.org may link out to off-site advertorials company websites, that www.raredis.org has no control over. Our site www.raredis.org occasionally shares anonymous aggregate statistical information regarding site usage and traffic with public. This information cannot be linked to individual users and is entirely anonymous.
CONTACT INFORMATION
Bulgarian Association for Promotion of Education and Science (BAPES)
4 Bratia Sveshtarovi str., 4017 Plovdiv, Bulgaria
e-mail: bapes@mail.bg
Information Centre for Rare Diseases and Orphan Drugs
15a Vasil Aprilov blvd (University hospital campus), 4000 Plovdiv, Bulgaria
e-mail: info@raredis.org
HELP LINE: +359-32-575797
DOWNLOADS
ICRDOD Activity Report for 2005 – click (English, PDF format, size 4.96Mb)
Rare diseases as a medical and public health problem (reprint from the journal ) – click (Bulgarian, PDF format, size 2.9Mb)
Letter-support from the Bulgarian Ministry of Health – click (English, PDF format, size 583Kb)
Letter-support from (Bulgarian, PDF format, size 302Kb)
Letter-support from (Bulgarian, PDF format, size 244Kb)
Letter-support from the BULGARIAN SOCIETY OF CARDIOLOGY – click
(English, PDF format, size 337 Kb)
Letter-support from the Bulgarian Society of Human Genetics – click
SYNONIMS: Barbeau Disease ICD10 code: G71.0 ORPHANET number: ORPHA270 For more information about this disease, please visit the NIH Office of Rare Diseases Research website. ————————————————————————— SYNONIMS: Еpidermolysis bullosa simplex ICD10 code: – ORPHANET number: – For more information about this disease, please visit the Orphanet website. SYNONIMS: – ICD10 code: – ORPHANET number: ORPHA671 For more information about this disease, please visit the Orphanet website. —————————————————————————
Last modification: 11:10 28.08.2010
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Junctional epidermolysis bullosa
Dystrophic epidermolysis bullosa
Visitors from North America may also contact
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
Last modification: 15:22 15.08.2010
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