I EU defineres en sjælden sygdom som en, der rammer færre end fem ud af 10 000 mennesker. I 2008 vedtog Kommissionen en meddelelse, der fastlagde en overordnet EU-strategi for, hvordan man hjælper medlemslandene med at sikre effektiv opsporing, forebyggelse, diagnose, behandling, pleje og forskning, når det gælder sjældne sygdomme i Europa.
I 2009 vedtog Rådet efter et forslag fra Kommissionen en henstilling om at samle de sparsomme ressourcer, der i øjeblikket er spredt over de enkelte EU-lande. Det er et godt eksempel på, at samarbejde på EU-plan kan give langt større merværdi. En fælles indsats vil gøre det lettere for patienter og fagfolk at dele erfaringer og information hen over grænserne.
Initiativer: Meddelelse fra KommissionenAlle oversættelser. 
og henstilling fra Rådet om en europæisk indsats over for sjældne sygdomme.
Mere om sjældne sygdomme:
Rare Disease Patient Registries constitute key instruments for increasing knowledge on rare diseases, for supporting fundamental, clinical and epidemiological research, and for post-marketing surveillance of orphan drugs and of drugs used off-label.
Orphanet, the European portal for rare diseases and orphan drugs has a new fresher design
MPE is a patient organisation. It released its first bulletin this summer. It will be followed by a second one in automn
2012 report on the State of the Art of Rare Disease Activities in Europe covers activities up to the end of 2011 and is composed of 5 volumes.
The CML Horizons 2012 was organised by the CML Advocates Network, a patient group
This workshop is organized in the framework of the EPIRARE project (“European Platform for Rare Disease Registries”, co-funded by the European Commission
The conference will be devoted to all aspects of cerebral palsy, from early diagnosis to standards of care and to new therapeutical approaches
Held under the auspices of the Cyprus Presidency of the Council of the European Union in 2012, and with the support and close collaboration of the Cyprus Ministry of Health, the conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Europe
Reports on recent advances in HD (in both basic and clinical sciences) will be presented
EUROPLAN 2012-2015 main goal is to establish an international and interactive network of stakeholders to speed up the elaboration and the implementation of Rare Diseases National Plans/Strategies
The program will cover current progress and controversies in diagnosis, treatment and pathogenesis of the Ehlers-Danlos Syndrome
This symposium aims to allow exchanges between patients, parents, families, doctors and scientists on all aspects of mucopolyssaccharidosis and related disorders.
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.
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.
ENERCA-projektet står bag dette symposium, der skal informere kolleger og skabe interesse om medfødte og sjældne anæmier, der er et af tidens store sundhedsproblemer.
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
Global diskussion om gennemførelsen af det internationale samarbejde til bekæmpelse af sjældne sygdomme
“State of the art and sharing experiences: toward EU Recommendations”
Rare Disease Patient Registries constitute key instruments for increasing knowledge on rare diseases, for supporting fundamental, clinical and epidemiological research, and for post-marketing surveillance of orphan drugs and of drugs used off-label.
Orphanet, the European portal for rare diseases and orphan drugs has a new fresher design
MPE is a patient organisation. It released its first bulletin this summer. It will be followed by a second one in automn
2012 report on the State of the Art of Rare Disease Activities in Europe covers activities up to the end of 2011 and is composed of 5 volumes.
The CML Horizons 2012 was organised by the CML Advocates Network, a patient group
CML Advocates Network released a video targeting CML patients. The video was developed by a European workgroup of 8 patient advocacy groups and CML experts
The record number reached today of 1000 designations demonstrates that the legal framework for orphan product designations lives up to its potential: not only does it support research, it also helps identify promising products and bolster their development with the goal of market authorisation
This brochure provides information on why myeloma bone disease occurs, how it is diagnosed and monitored and how it is managed and treated
International patient advocacy organisations and industry partner launch first patient-reported registry for EB
To improve the information available to patients, an international CML workgroup of patient organisations and experts have developed a patient-friendly summary of recommendations for CML management. Patient-friendly summaries are in nine languages
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.
Et videoklip med EU's sundhedskommissær, John Dalli, om europæiske initiativer til bekæmpelse af sjældne sygdomme blev præsenteret på konferencen for sjældne sygdomme i 2011.
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.
Da op til 30 mio. Europæere lider af en sjælden sygdom, er diagnose nøglen til at gøre op med ulighederne.
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.
KOMMISSIONENS AFGØRELSE af 27. juli 2010 om udnævnelse af medlemmerne af det EU-ekspertudvalg for Sjældne Sygdomme, der blev nedsat ved afgørelse 2009/872/EF
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.
Kommissionen har vedtaget to tekster om sjældne sygdomme, som indeholder en samlet EU-strategi for støtte til medlemslandene på områderne diagnosticering, behandling og pleje af de 36 millioner EU-borgere, der lider af sjældne sygdomme.
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.
