În UE, orice boală care afectează mai puţin de 5 din 10 000 de persoane este considerată rară. În 2008, Comisia a adoptat o comunicare stabilind o strategie globală care să sprijine eforturile statelor membre de a asigura depistarea, prevenirea, diagnosticarea, tratarea şi acordarea de îngrijiri medicale adecvate pacienţilor afectaţi de boli rare şi de a susţine cercetarea în domeniu.
La propunerea Comisiei, Consiliul a adoptat în 2009 o recomandare care încurajează statele membre să-şi pună în comun resursele, în prezent limitate şi fragmentate. Acesta este un caz reprezentativ pentru capacitatea măsurilor iniţiate la nivel european de a genera valoare adăugată. Acţiunea comună le va permite pacienţilor şi personalului sanitar să facă schimb de experienţă şi de informaţii dincolo de frontiere.
Iniţiativa: Comunicarea ComisieiAll available translations. 
şi Recomandarea Consiliului cu privire la o acţiune europeană în domeniul bolilor rare
Informaţii suplimentare pe tema bolilor rare:
John Dalli, European Commissioner for Health and Consumer Policy, attended the 6th European Conference on Rare Diseases and Orphan Products Brussels, Belgium, 24 May 2012
The "CML Horizons 2012" conference, held in Munich in May 2012, was a great success, with 86 patient advocates from from 48 countries participating in this meeting
On 8 May 2012, Thalassaemia International Federation (TIF) will celebrate International Thalassaemia Day 2012 and will hold a press conference with the theme ‘Patients’ Rights Revisited’. The message of TIF president is available online
A European team of scientists has discovered that thrombocytopenia with absent radii (TAR), a rare inherited blood and skeletal disorder, is triggered by low levels of the protein Y14.
The new pan-European HeadSmart campaign has been launched today on Rare Disease Day, to raise awareness of the symptoms of brain tumours in children and young people.
Brussels, Belgium - Event where everyone from patients, to policy makers, healthcare professionals, industry, researchers and academics are given the opportunity to meet, exchange information and ideas and join together in the fight against rare diseases.
This symposium aims to allow exchanges between patients, parents, families, doctors and scientists on all aspects of mucopolyssaccharidosis and related disorders.
Luxembourg
Istanbul, Turkey - "Rare diseases policy development in Eastern European countries"
Paris, France - "Compassionate Use and Early Access Programmes”
Sofia, Bulgaria - The 4th European Symposium on Rare Anaemias is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias.
Geneva, Switzerland - This international conference provides a unique focus on the challenges facing therapy development for inherited neuromuscular diseases. The conference sessions will look at the range of issues involved in therapy development in inherited neuromuscular diseases as well as discussing the latest research developments in this area.
Montpelier, France - The event will be pursuing the objective of serving as a public/private collaborative platform through intensified partnerships between the key players in research and industry.
Tbilisi, Georgia - This conference is intended to provide the most updated information in the field of rare diseases, and give the participants an opportunity of meeting experts from all over the world.
Luxembourg - "European Actions to improve the life of patients living with rare diseases"
Luxembourg
The conference will be a forum for reviewing current progress and discussing the possible directions of ways to meet the medical needs posed by neglected diseases. Neglected diseases are a group of tropical infections which are especially endemic in low-income populations in developing regions of Africa, Asia and the Americas.
Tokyo - Japan. A global meeting on international cooperation and public health policies focussing on research, diagnosis, development of and access to treatment and care for rare diseases. The programme for this conference will be available shortly.
Rare Disease Day is intended to increase awareness of rare diseases amongst the general public, European, national and local health authorities and policy makers, health professionals, researchers, academics, the pharmaceutical and biotech industries, as well as the media.
The conference aims at presenting the main results obtained in the framework of EUROPLAN and at discussing further steps in the sector of the strategic national planning on rare diseases.
This event will explore issues in rare lung diseases and the development of orphan medicinal products and other therapeutic options for these disorders.
Roma (Italy)
The nEUroped Network brings together patients and their families, patient organisations, research groups, and other interested parties across Europe. The meeting is focused on patients and Clinicians Reviewing and Challenging the nEUroped Achievements.
Simpozionul este o activitate organizată în cadrul proiectului ENERCA, prin care se doreşte informarea personalului sanitar şi suscitarea interesului faţă de formele rare şi congenitale de anemie, care reprezintă în prezent o preocupare medicală de mari proporţii.
The Fifth Eastern European Conference for Rare Diseases and Orphan Drugs “Rare Diseases in the Focus of Personalized Medicine” and the First All-Russian Conference for Rare Diseases and Rarely Used Medical Technologies “The Road of Life” will take place in Saint-Petersburg, Russia on 1-3 July 2010. The conference will bring together leading scientists, practicing doctors, patients and representatives of the patient organizations from Russia, Europe and the CIS, European alliances CEEGN and EURORDIS.
12th Workshop of the Eurordis Round Table of Companies
“From Policy to Effective Services for Patients” is being co-organised by EURORDIS and its partners.
A European Workshop on Rare Disease Research organised by EURORDIS was held on March 1st at the Internatioanal Press Centre in Brussels. Throughout the day, prestigious speakers, panellists and discussants made the case for RD research to be included in public funding schemes and remain high in the European research agenda.
Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and National Alliances of Patient Organisations at the national level
Discuţii la nivel global privind modalitatea de implementare a cooperării internaţionale pentru lupta împotriva bolilor rare.
“State of the art and sharing experiences: toward EU Recommendations”
John Dalli, European Commissioner for Health and Consumer Policy, attended the 6th European Conference on Rare Diseases and Orphan Products Brussels, Belgium, 24 May 2012
The "CML Horizons 2012" conference, held in Munich in May 2012, was a great success, with 86 patient advocates from from 48 countries participating in this meeting
On 8 May 2012, Thalassaemia International Federation (TIF) will celebrate International Thalassaemia Day 2012 and will hold a press conference with the theme ‘Patients’ Rights Revisited’. The message of TIF president is available online
A European team of scientists has discovered that thrombocytopenia with absent radii (TAR), a rare inherited blood and skeletal disorder, is triggered by low levels of the protein Y14.
The new pan-European HeadSmart campaign has been launched today on Rare Disease Day, to raise awareness of the symptoms of brain tumours in children and young people.
Chaired by the European Commission, the Executive Committee of the International Rare Diseases Research Consortium (IRDiRC) appointed today 31 class-leading experts to help guide its members' future research efforts.
Videos on projects in the area of rare diseases and medicines for rare diseases at European level.
Videoclipul prezentând iniţiativele europene în materie de boli rare, în care apare comisarul pentru sănătate şi consumatori John Dalli, a fost prezentat la Conferinţa din 2011 pe tema bolilor rare.
The European Commission Public Health Programme defines rare diseases as life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. The term low prevalence is later defined as generally meaning fewer than 1 in 2,000 people.
A Franco-British team of researchers has discovered a mysterious gene responsible for the extremely rare congenital Grey Platelet Syndrome that causes a bleeding disease.
Orphanet is the reference portal for information on rare diseases and orphan drugs. Orphanet’s aim is to help improve the diagnosis, care and treatment of patients with rare diseases. It publishes a bi-monthly newsletter which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs.
This report covers activities up to the end of 2010. The report is composed of 3 parts which are now available via the EUCERD website.
MYELOMA EURONET, a non-profit network organisation of multiple Myeloma patient groups, is a European initiative dedicated to raising the awareness of multiple Myeloma, an increasingly common form of bone marrow cancer.
An EU-funded team of researchers from Canada, Germany and Poland has made new headway in research into the genetic condition neurofibromatosis (NF1).
Orphadata is a new service from Orphanet that aims to provide the scientific community with a comprehensive, high-quality and freely-accessible dataset related to rare diseases and orphan drugs, in a reusable format. The data available on Orphadata is extracted from the Orphanet database of rare diseases and orphan
A recent article published in the Journal of the American Medical Association (JAMA) discussed a comparison of clinical trials for orphan vs. non-orphan oncology drugs.
Aproape 30 de milioane de europeni suferă de o boală rară. Diagnosticarea este soluţia pentru eliminarea inegalităţilor.
A perspective from the European Union Committee of Experts on Rare Diseases.
Rare diseases cause great suffering to many EU citizens. Up to 36 million Europeans are affected, and need proper diagnosis and treatment.
The report examines Europeans’ awareness and knowledge of rare diseases and their support for policy initiatives actions taken at national and European level.
A book about rare diseases. To go beyond patients’ anecdotes and investigate experience-based opinions in a quantitative way, the EurordisCare2 and EurordisCare3 surveys were conducted. These surveys investigated patients’ experiences and expectations regarding access to diagnosis and to health services, for a variety of significantly relevant rare diseases across Europe.
Watch videos about rare diseases. You can also share a video or photo of your own or that of others living with a rare disease.
Rare Disease Day is intended to increase awareness of rare diseases amongst the general public, European, national and local health authorities and policy makers, health professionals, researchers, academics, the pharmaceutical and biotech industries, as well as the media.
The main aim of BURQOL-RD, a newly funded EU project, is to generate a model to quantify the socio-economic costs and health-related quality of life (HRQOL), for both patients and caregivers, for up to 10 rare diseases in different European countries.
The Commission adopted today (30 November) a Decision establishing a European Committee of Experts on Rare diseases. The Committee will be composed of one representative per Member State from ministries or government agencies responsible for rare diseases designated by the Government of each Member State, representatives from patient's organisations, the pharmaceutical industry and Community experts in the field of rare diseases.
Rare diseases contribute heavily to the death rate in Europe but often go unrecorded owing to weaknesses in healthcare data systems. Concerted action at EU and national level is needed to tackle this problem, according to a report adopted by Parliament today in Strasbourg.
The European Commission adopted today a Communication and a proposal for a Council Recommendation on rare diseases setting out an overall Community strategy to support Member States in diagnosing, treating and caring for the 36 million EU citizens with rare diseases. The limited number of patients affected and the fragmentation of knowledge about them across the European Union, makes rare diseases a prime example of where working at European level is necessary and beneficial.
The European Commission adopted a Communication and a proposal for a Council recommendation on rare diseases setting out an overall Community strategy to support Member States in diagnosing, treating and caring for the 36 million EU citizens with rare diseases.
When Blanka Halčinová was growing up, the life of haemophiliacs was hospitals, transfusions and damaged joints. Her sons inject the coagulation factor themselves.
In a remote village on Gran Canaria, over the course of several decades, dozens of children died from sudden cardiac arrest.
El País. Las enfermedades raras son las que afectan a menos de cinco personas por cada 100.000 habitantes.
Sveikata ir vaistai - Lietuvos zinios
Diário de Notícias.
Sanità. Le indicazioni della Commissione europea sulle azioni comuni per diagnosi e cura.
Luxemburger Wort. Initiativen der EU-Kommission im Kampf gegen seltene Krankheiten.
La Libre Belgique. The article anounces the conference and introduces a web portal dedicated to rare diseases: Orphanet.
Corriere della sera. La Commissione Europea presenterà i risultati delle azioni finora promosse a favore della lotta contro le malattie rare...
An Estonian woman is suffering from a disease that has been puzzling doctors all over the world
A film tells the story of a father who set up a biotechnology company so that a researcher could develop a drug for his children’s illness // Many parents in the same situation take similar action
Each year in Poland, 2000 young hearts need extensive repairs before they even start beating. Most repairs are successful. Is there anything that paediatric cardiac surgeons cannot do?
They're only a minority. And yet there are a lot of them: over 4 million Germans suffer from a rare disease. They often have to wait years the right diagnosis and there are hardly any treatments. Often, their only source of comfort and hope is self-help groups.
The article raises awareness amongst the public on ME (Myalgic Encephalopathy) and clarifies some misconceptions. It is a human, personal interest story in which the reader can identify with the people in the article.
