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Researchers seek better understanding of blood disorders
Researchers from Finland and the United States have shed light on the mechanisms at play in certain devastating haematological disorders, paving the way for the development of new disease-specific treatments.
The team, who present their findings in the journal Nature Structural & Molecular Biology, uncovered mutations in a protein structure in enzymes that convert the cell-signalling molecules that regulate blood cell formation.
These small cell-signalling protein molecules are called cytokines and they regulate blood cell formation and activity via a signal pathway mediated by Janus kinases (JAKs), a family of enzymes.
read more: eurordis 
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annual EUCERD report
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.
eucerd
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February 29 - Rare Disease Day 2012
celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.
external link |
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7th ICORD Tokyo
4-6 February 2012 Convention Hall, University of Tokyo, Japan
V II International Conference on Rare Diseases and Orphan Drugs
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, will be held in Tokyo.
The themes are:
- Research
- Diagnosis
- Treatment
- Orphan drugs
- Health policies on rare diseases and orphan drugs globally
- Ethical issues and social aspects of rare diseases
- International networking
- Patients' needs
for more information:
http://www.prip-tokyo.jp/icord2012
source: Eurordis |
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Video on rare diseases
RARE DISEASES CONFERENCE 2011 - Video
A video presenting European initiatives for rare diseases and featuring Commissioner for Health and Consumers was presented at the Rare Diseases Conference 2011.
Video
source: eahc |
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source: Eurordis |
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Learning from each other across Europe
Norwegian-Romanian (NoRo) Partnership for Progress in Rare Diseases
After three years of intense work a new service for Romanian rare disease patients is set to open in June 2011. The pilot Centre for Rare Diseases and virtual Rare Disease Training E-University is the first of its kind in Romania and will encompass a day centre for rare disease patients with autistic behaviour, a respite care service and a comprehensive training programme.
read more..
source: Eurordis |
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People living with rare diseases ask for plans
People living with rare diseases ask for plans, or national strategies, in 25 European countries.
Diagnosis
Health professionals have long been so helpless in front of a rare disease that they often did not even dare to make a diagnosis. Not any more. Diagnosis is now available for about 1,900 diseases, though not one single European country can provide all existing tests. Use of existing treatment and drugs has improved. Increased numbers of orphan drugs are now on the market. Rapid progress is made in advanced therapies. Today no one should have the right to say to a family: "nothing can be done". EurordisCare studies* show that diagnosis alone considerably improves quality of life and life expectancy by reducing unnecessary medical interventions, inappropriate treatments (including psychiatric), the birth of other affected children, maladapted family behaviour and the loss of confidence in medecine. No diagnosis: no treatment. For example: gene therapy, recently successful for children born with adrenoleukodystrophy, must be implemented as early as possible in life to prevent irreversible brain damage.
National plans
How to give isolated patients and families equal access to early diagnosis and care? By bringing together all available expertise and resources. In 1993, Denmark organised two centres of expertise for rare diseases, then Sweden and Norway. In 2001, Italy designated regional centres. France implemented the first national plan for rare diseases from 2005 to 2008, soon to be followed by Bulgaria, Romania, Spain and Portugal. Following the Recommendations of the European Council of Ministers, plans are currently in preparation in Germany, Hungary, Ireland, Denmark, Sweden.Everywhere, patients and their associations are playing a key role throughout the process. What do we want in a national plan or strategy? Integration of all initiatives and resources: improved diagnosis linked to better awareness, information, training of professionals, clinical laboratories and centres of expertise; centres of expertise instrumental for research, registries and clinical trials, good practice guidelines, improved social care. Last but not least, long term sustainability of appropriate health and social policies, vital necessity for 30 millions patients affected in Europe by one of the 6,000 to 8,000 rare diseases.
source: rarediseaseblogs |
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February 28
Rare Disease Day 2011
celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.
external link |
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European Symposium on "Optimal Clinical Use of Blood Components"
April 24th-25th 2009, Wildbad Kreuth, Germany
Clotting factor concentrates and haemophilia treatment
Rare bleeding disorders - Flora Peyvandi presentation
download the program |
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2 nd Annual EAHAD Congress,
Munich Cultural Centre (Gasteig); Munich - Germany
26 th - 27 th February 2009
Professor Flora Peyvandi, on behalf of the European Network on Rare Bleeding Disorders (EN-RBD), presented the state of the art of the EN-RBD project, during the second congress of the European Association for Haemophilia and Allied Disorders (EAHAD).
presentation
EAHAD Munich Program |
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| EPPOSI Workshop
March 2009
EPPOSI Workshop on Patients Registries for Rare DisordersNeed for data collection to increase knowledge on rare disorders and optimize disease management and care
Wednesday 18 - Thursday 19 March 2009
Scientific Institute of Public Health
Brussels, Belgium
Program |
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February 28
Rare Disease Day 2009
celebration of the European Rare Disease Day: A Rare Day for Very Special People. The organisation of this awareness Day is coordinated by Eurordis at the European level and by National Alliances at the national level. Many events will take place throughout Europe.
external link |
3rd December 2008
"Rare Diseases and Disabilities. We are rare but numerous"
A meeting organized by the G.Dossetti Association and held at the Senate Palace, Campidoglio Square, Rome, under the auspices of the Ministry of Welfare, Health and Social Policies, the Italian National Istitute of Health, numerous scientific societies, drug industry associations and local authorities.
This has been an important occasion for patients associations, political authorites, medical doctors, researchers and drug industries to meet and join forces to attract more interest and funding into rare diseases.
In this framework, Flora Peyvandi presented the current project on rare bleeding disorders and promoted the need for a National Registry, for a cooperation with the industries at an international level. Her presentation can be downloaded here. |
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European Principles of Haemophilia Care (EHC/EAHAD)-27 January 2009
Flora Peyvandi have been invited to the European Parliament as a representative of the EN-RBD network
European Haemophilia Consortium, in collaboration with the European Association for Haemophilia and Allied Disorders (EAHAD) will launch the
European Principles of Haemophilia Care in the European Parliament
www.ehc.eu/ |
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| Annual workshop of the EN-RBD working group will be held in Copenhagen , Denmark on 16th December 2008 |
| www.rbdd.eu |
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XXVIII International Congress of the World Federation of Haemophilia (WFH) 1 th - 5 th June, 2008, Istanbul, Turkey |
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Milan - April 14-15, 2008 - First meeting |
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| MENORRHAGIA AND OTHER GYNAECOLOGICAL PROBLEMS IN WOMEN AFFECTED BY BLEEDING DISORDERS |
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| www.wrbd.org |
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- The EHA (European Hematology Association) has organized the 12th Congress which will take place on the 7-10 of June, 2007 in Austria, Vienna.
We advice you to visit the EHA web-site (www.ehaweb.org), where you can download the final announcement |
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- The ISTH (International Society on Thrombosis and Haemostasis) has organized the XXI Congress which will take place on the 6-12 of July, 2007 in Switzerland, Geneva.
We advice you to visit the ISTH web-site (www.isth2007.com), where you can download the final announcement |
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