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Moving towards designated centres of reference for rare diseases in Europe
The Rare Diseases Task Force expert group on centres of reference handed over its final report and accompanying annexes to the EC’s High Level Group on Health Services and Medical Care during a meeting in Brussels last month. The report will be used to feed into a general reflection on the establishment of clinical centres of reference in Europe, using the example of centres of reference for rare diseases as a model. The fruit of a detailed mapping exercise of the centres of reference already in place in Europe, and two days of discussions and exchange between members of the expert group, the report outlines the current situation in Europe, discusses the perceived advantages of having such a system in place and puts forward a list of recommendations.

The situation with respect to centres of reference for rare diseases in Europe is currently very diverse, reflecting both the heterogeneity of European health care systems and their governance, and the relative priority attributed to rare diseases in each Member State. France has over 60 clearly designated national centres in place, each one with a specific budget attributed by the Ministry of Health; Denmark, Sweden and Italy also have specific centres but they are very diverse and function more as local centres of care provision; the UK has a number of centres in place for ultra rare diseases or where innovative technology is necessary. Other European countries have no designated centres as such, even though many centres of expertise in rare diseases do exist.

The report proposes criteria for defining European centres of reference and indicators of prioritisation for the diseases which should be covered by them. It recommends specifically that 1) the establishment of lists of currently existing expert centres should continue, regardless of whether or not they are designated centres of reference, to help patients and health professionals know where diagnosis and appropriate management can be procured; 2) financial support should be provided for networks of centres across Europe to encourage sharing of knowledge and best practice; 3) financial support should be provided to develop computerised systems for sharing medical files and for experts to meet to discuss clinical cases so that the maximum number of patients can benefit from the expertise of a few without patients having to travel; and 4) a system of designated European centres of reference be developed, in the long-term, in collaboration with Member State health authorities.

The report’s recommendations were welcomed by members of the High Level Group at the meeting on 29 September. This group must now make proposals which can apply to other diseases or other specific situations such as highly innovative medical technologies. Its conclusions will be presented to the Council of Health Ministers in December 2005.

Deadline for submissions

We welcome your contributions to OrphaNews Europe.
Please send your ideas for articles by contacting the editor here.

The next edition will appear in mid-November.
Deadline for the next edition is
8 November 2005.


EU Policy News
DG Research
Commission unveils detailed plans for next research framework programme
Last month the European Commission unveiled detailed plans for the content and implementation of the specific programmes which will make up the next framework programme for research (FP7) due to run from 2007-2013.

The proposition for the seventh framework programme is composed of four main elements - Co-operation, Ideas, People and Capacities - alongside cross-cutting issues such as support for SMEs, international cooperation, the contribution of research to EU policy, and the inclusion of societal considerations.

Rare disease research features under the heading of health, one of nine themes proposed under 'Cooperation'. The Cooperation programme is designed to gain leadership in key scientific and technological areas by supporting cooperation between universities, industry, research centres and public authorities across the European Union as well as the rest of the world. The thematic area of health has a total proposed budget of 8373 million euros.

Specifically, the focus for rare disease research in FP7 will be on Europe-wide studies of natural history, pathophysiology, and on development of preventive, diagnostic and therapeutic interventions. This sector will include rare Mendelian phenotypes of common diseases.

For the specific programme called ‘Ideas’, an entirely new approach will be taken. The preparation of an annual work programme will be entrusted to an independent scientific council as part of the establishment of an autonomous European Research Council. The programme will follow an “investigator driven” approach, allowing researchers the scope to propose their own topics. Grants will be provided for individual teams, leaving the flexibility for a team to consist of any grouping of researchers appropriate for the conduct of the projects with scientific excellence, and not administrative requirements, being the driver behind their composition.

The FP7 proposal has still to be discussed and approved by the European Parliament and the Council. Much will depend on the outcome of budgetary negotiations which remain in deadlock. The Commission had initially requested a doubling of funds for research to around 70 billion euros but this amount is far from being secured. The UK Presidency intends to draw up a revised draft text covering the whole Framework Programme proposal and is hoping to achieve a compromise deal before the end of 2005. It is expected that the Commission’s proposals will be debated by the Competitive Council on 28 and 29 November 2005.

European Parliament
MEPs reiterate call to halt EU-funded human stem cell research
In a joint letter to EC President Barroso, a group of members of the European Parliament have reiterated their call for the European Commission to halt EU funding of human stem cell research in the next research framework programme (FP7).

The 73 co-signatories of the letter ask that the subsidiarity principle be applied in connection with this type of research so that Member States where human stem cell research is legal fund it from their national budgets rather than asking taxpayers from Member States where it is prohibited to pay for it through the Commission funds.

In the UK and Belgium, the law currently permits the creation of human embryos for the procurement of embryonic stem cells whilst France, Germany and Italy allow the import of new stem cell lines, but oppose their creation. Austria, Ireland, Lithuania, Poland and the Slovak Republic currently prohibit procurement of stem cells from embryos.

The letter, dated 20 September 2005, was sent the day before the Commission was due to debate the detailed content of the future framework programme. In FP6, which runs until 2006, human embryonic stem cell research for the fight against major diseases is funded within a framework of strict ethical guidelines but legislation prohibits research activities intended "to create human embryos solely for the purpose of research or for the purpose of stem cell procurement, including by means of somatic cell nuclear transfer". The detailed version of FP7, published on 21 September (see above), contains the same wording.


National & International Policy Developments
Policy developments in EU member states
German President's wife visits Rare Diseases Platform in Paris
During an official visit to France on 5 October, the wife of the German President, Frau Eva Köhler, made a special request to visit the Paris-based Rare Diseases Platform. She was accompanied by a delegation from the German rare diseases alliance (ACHSE) of which she is an active member. The Rare Diseases Platform plays host to Orphanet, Eurordis, Maladies Rares Info-Service (a help-line and information service on rare diseases), the French national rare diseases alliance and the Rare Diseases Institute, bringing together patients, health professionals and researchers.

In a brief speech after her visit, Frau Köhler promised to bring together those active in the field of rare diseases in Germany with the aim of developing joint initiatives.

Frau Köhler with Frau Kreiling, president of the German Rare Diseases Alliance (ACHSE)

New list of designated centres of reference in France
A further 33 centres of reference for rare diseases have been designated as officially recognised national centres in France by the Minister of Health, Xavier Bertrand, adding to the 34 centres already designated in November last year. Each centre is specific to a rare disease or group of rare diseases.

The designation of centres of reference is part of the French National Plan for Rare Diseases and aims to improve patients' access to diagnosis and management of their disease by ensuring the availability of high quality care provision, the development of recommendations for clinical practice relating to rare diseases and the development of care networks. Each designated centre, selected by a committee of experts, is awarded a specific budget from the Ministry of Health. Up to 100 centres are expected to be designated over the course of the National Plan which runs until 2008.

Multilingual versions of French National Plan for Rare Diseases now available
The French National Plan for Rare Diseases, launched in November 2004 by the French Ministries of Health and of Research, has now been translated into English, German and Italian. Spanish and Portuguese versions are also in translation and will be available soon. All multilingual copies will be available as they are ready on the RDTF website.

The Plan, which runs until 2008, enshrines a major strategy for rare diseases and proposes a series of concrete measures intended to be coherent and structuring for the organisation of rare disease care provision in France (see the June 2005 edition of OrphaNews Europe for more details).

Please distribute the translated version of the Plan in your own language to your country's public health decision-makers and any other interested parties.


Research in Action
EU project focus
EuroSCA: combining forces to attack ataxias
Spino-cerebellar ataxias are rare disorders caused by neuronal dysfunction and subsequent neuronal cell death, inherited as autosomal dominant traits. They generally develop in adulthood in people in their 20s and 30s and progressively cause a wide range of movement disorders ranging in severity from slight problems of balance to severely debilitating loss of motor coordination. As the prevalence of SCAs in Europe is very low (less than 1:10,000) and these disorders show a high degree of clinical and genetic heterogeneity – over thirty different genes have been implicated - it is difficult for individual researchers to collect a large enough number of patients to study the genetic basis for the disease.

EuroSCA, a European project launched in 2004 brings together the expertise of 22 research teams from 9 European countries in an attempt to overcome this problem by creating a critical mass of data and a multidisciplinary approach to research on these disorders. The project, funded over 4 years through the European Commission’s 6th Framework Programme (contract no: LSHM-CT-2004-503304), calls upon the clinical, genetic and basic research skills of the project’s participants to address the underlying causes of SCAs and develop new therapeutic approaches for patients...

...Read more

Call results
Rare disease projects funded in latest Public Health call
Three projects in the broad field of rare diseases have been selected for funding following DG SANCO’s latest call for projects under the current Public Health programme (deadline 15 April 2005):

EU Primary Immunodeficiency Consensus Conference
This project, led by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), is centred around a Consensus Conference on Primary Immunodeficiency (PID) involving delegates and experts from clinical immunology, PID care, public health, genetics, EU/national agencies and health ministries, academic centres, public health laboratories, professional organisations and patient groups. The outcome will be an EU PID Consensus Statement containing key recommendations and a meeting report which will set out a public health framework approach to PIDs in the EU and provide a potential public health model for other single-gene disorders.

European Myasthenia Gravis Network
The EuroMyasthenia project aims to set-up a Europe-wide Myasthenia Gravis network to improve information and knowledge about the disease, promote a better classification, optimise therapeutic strategies and support actions to reduce inequalities in care.

EuroMyasthenia will particularly focus on standardising biological, clinical and histological criteria in EU countries, identifying new biomarkers to improve diagnosis, classification and treatment of myasthenia gravis, determining the influence of psychological and socio-economical determinants in the onset and aggravation of the disease, developing a European database to serve as a basis for epidemiological studies, promoting the establishment of a specific European Card for myasthenia gravis patients and disseminating data via a web-site connected to the EU health portal.

European Autism Information System
The project’s overall objectives are to develop mechanisms for obtaining systematic, reliable and consistent data for Autism Spectrum Disorder (ASD) in Europe and to strengthen its early diagnosis.

It will address these issues by conducting an initial analysis of the current surveillance of ASD and analysing the use of different case definitions in Europe, establishing a network of professionals and stakeholders in the field of ASD, and making recommendations for a common European information system on ASD that will be validated in a pilot study.

These three projects will receive co-financing from the European Commission on condition that the negotiation procedures are successful and that the grant agreement is signed.

New diseases & syndromes
New diseases and syndromes published on PubMed in September 2005
Spinal muscular atrophy, Dandy-Walker complex, and cataracts in two siblings: a new entity?
J Neurol Neurosurg Psychiatry ; 76(8):1183-4 ; August 2005
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: a novel syndrome
Kidney Int. ; 67(6):2354-60 ; June 2005
Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?
Am J Med Genet A. ; 137(2):199-203 ; 30 August 2005
A new tubular disorder with hypokalaemic metabolic alkalosis, severe hypermagnesuric hypomagnesaemia, hypercalciuria and cardiomyopathy
Nephrol Dial Transplant. ; 20(6):1241-5 ; June 2005
A new variant of mastocytosis: report of three cases clinicopathologically mimicking histiocytic and vasculitic disorders
Br J Dermatol ; 153(3):642-6 ; September 2005
New genes
New rare disease genes published on PubMed in September 2005
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
To read more about "Cataract, total congenital"

J Med Genet. ; 42(9):706-10 ; September 2005
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia and seizures
To read more about "Ataxia, familial paroxysmal"
To read more about "Hemiplegic migraine, familial"

Neurology ; 23;65(4):529-34 ; August 2005
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1
To read more about "Fryns syndrome"

J Med Genet. ; 42(9):730-6 ; September 2005
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
To read more about "Silver-Russell dwarfism"

Nat Genet ; 37(9):1003-7 ; September 2005
Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms
To read more about "Myelodysplastic syndromes"

J Clin Invest ; 115(9):2351-2362 ; 1 September 2005
New clinical research
Industry launches clinical trials portal
As part of a move to promote the transparency of biomedical data, the International Federation of Pharmaceutical Manufacturers & Associations (IFPMA) has announced the launch of its new Clinical Trials Portal.

Developed in conjunction with information technology specialist IBM, it is the first internet search engine constructed specifically to link to on-line information made available by the innovative pharmaceutical industry about clinical trials worldwide. The Portal, which currently contains more that 250,000 links, aims to provide doctors, patients and their families with simple access to complete information on clinical trials of drugs and vaccines.

The Portal gives access to both registries of on-going clinical trials and to the results of completed clinical trials. The current version supports simple search functions and is limited to English language but a future version will allow searches in other languages and provide tools to assist those with a limited knowledge of medical terminology.

The IFPMA Clinical Trials Portal constitutes part of an industry commitment to transparency in research as outlined in the 'Joint Position on the Disclosure of Clinical Trial Information via Clinical Trial Registries and Databases ', issued in January 2005 by the IFPMA, the European Federation of Pharmaceutical Industries and Associations (EFPIA), the Japan Pharmaceutical Manufacturers Association (JPMA), the Pharmaceutical Research and Manufacturers of America (PhRMA) and Canada’s Research-Based Pharmaceutical Companies (Rx&D).

New clinical trials in the Orphanet database
A prospective randomised controlled trial of thiopurine methyltransferase (TPMT) genotyping in the management of patients, prior to commencement of azathioprine (AZA) treatment

A UK-based national multi-centre trial

Phase I, 3 day schedule clinical trial administering Topotect in combination with etoposide in the treatment of patinents with primary solid brain tumours

An international multi-centre trial

To register your interest in participating in a clinical trial visit Orphanet.

New clinical research published on PubMed in September 2005
NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients
To read more about "Charcot-Marie-Tooth disease"
To read more about "Charcot-Marie-Tooth disease, type 1"

Neurology ; 65(5):681-9 ; 13 September 2005
Comparison of a single infusion of zoledronic acid with risedronate for Paget's disease
To read more about "Paget disease juvenile type"

N Engl J Med. ; 353(9):898-908 ; 1 September 2005
Rapid and specific detection of clinically significant haemoglobinopathies using electrospray mass spectrometry-mass spectrometry
Br J Haematol ; 130(4):635-43 ; August 2005
New therapeutic & diagnostic approaches
New therapeutic & diagnostic approaches published on PubMed in September 2005
Primary CNS lymphoma complicating treatment of myasthenia gravis with mycophenolate mofetil
To read more about "Myasthenia gravis"

Neurology ; 65(4):639-41 ; 23 August 2005
Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset
To read more about "Colon cancer, familial nonpolyposis"

Gastroenterology ; 129(2):415-21 ; August 2005
Celiac disease and risk of adverse foetal outcome: a population-based cohort study
To read more about "Celiac disease"

Gastroenterology ; 129(2):454-63 ; August 2005
New databases
Holt-Oram syndrome: a human TBX5 gene mutation database
A team based at the University of Leipzig, in Germany, has developed an online locus specific database containing germline and somatic mutations of the TBX5 gene. The permanently updated data collection includes all reported mutations beginning with the first description of the gene in 1997.

Germline mutations of the TBX5 gene have been identified as the primary cause in up to 70% of patients with Holt-Oram syndrome (HOS), an autosomal dominant disorder characterised by malformations of the upper limbs and cardiac defects.

Hum Mutat ; 26(4):397 ; October 2005
Genetic testing
Cystic fibrosis: new neonatal screening policy envisaged in France
A recent study by a team of French researchers, published in the special September 2005 issue of the Journal of Pediatrics (see below), suggests that the current strategy for neonatal cystic fibrosis (CF) screening in France, based on DNA analysis for mutations in the cystic fibrosis gene (CFTR), could usefully be replaced by a purely biological screening strategy.

The current strategy, in place since 2002, has given rise to a number of problems: the consent of both parents is often difficult to acquire; healthy carriers of a single mutation, who will not be affected by the disease but could pass it on to offspring, are also identified by the screening, necessitating provision of counselling for families; and some borderline results are difficult to interpret leading to uncertain diagnosis. In addition, DNA analysis techniques are costly.

The French study compares the genetic approach, combining DNA analysis and immunoreactive trypsinogen assay, with a purely biological approach comprising assays of immunoreactive trypsinogen and of pancreatitis-associated protein - another marker for CF. The authors argue that the biological approach is as effective as the genetic analysis, without the ethical/economic drawbacks.

The paper concludes that the biological screening approach could be of interest in countries which do not yet have a systematic screening programme for cystic fibrosis. In France, the national health insurance body, which ordered the study, is expected to announce its decision on whether or not to change the neonatal screening policy for CF in the near future.

J Pediatr. ; 147(3):302-305 ; September 2005
New genetic testing research published on PubMed in September/October 2005
Genetic Counselling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counsellors

These recommendations describe the minimum standard criteria for genetic counselling and testing of individuals and families with Fragile X syndrome.

J Genet Couns ; 14(4):249-70 ; July 2005
Policy Recommendations for Carrier Testing and Predictive Testing in Childhood: A Distinction That Makes a Real Difference

An international comparison of good practice position statements carrier testing and predictive testing.

J Genet Couns ; 14(4):271-81 ; July 2005
How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom

A discussion paper on the evaluation of genetic tests based on the analytic validity, clinical validity, clinical utility and ethical, legal and social issues (ACCE) framework.

Genet Med. ; 7(7):495-500 ; September 2005
Cystic fibrosis: special supplement of The Journal of Pediatrics
The September 2005 issue of ‘The Journal of Pediatrics’ (Vol. 147; issue 3) contains a special supplement on cystic fibrosis looking at current experience in treating cystic fibrosis and the benefits of newborn screening for the disease.

The supplement includes commentaries, reviews, and original research papers derived from a workshop held in Atlanta, USA in November 2003, co-sponsored by the US-based Centers for Disease Control and Prevention and the Cystic Fibrosis Foundation. In addition, the main Journal includes eleven articles on cystic fibrosis covering topics such as the reduction in birth rates since the onset of genetic testing, decreased birth weights and increased risk of preterm birth, an alternative strategy for screening newborns at reduced cost, and projects intended to improve life expectancy and quality of life through consistent, high-quality care.


Job Vacancies: Epposi director
EPPOSI, the European Platform for Patients’ Organisations, Science and Industry, is looking for a new director.

EPPOSI is an EU patient-led partnership between patients, industry and academic science. The director will work with the Chair, the Board and the Executive Committee of the organisation. The position requires an experienced professional with a strong interest in Health Policy and a thorough understanding of the political environment in EU health care.

A full description of the post and contact details are available here.

Deadline for applications: 1 November, 2005

Call for collaboration
Use OrphaNews Europe’s PartnerSearch if you are looking for partners for your research project, your patients association, or any other form of collaboration relevant to rare diseases and orphan drugs. Contact OrphaNews Europe and we will publish your request in the next monthly edition.

Orphan Drugs
New designations & authorisations in Europe
COMP opinions in August/September 2005
At its meeting on 8 – 9 September 2005, the EMEA’s Committee for Orphan Medicinal Products (COMP) adopted its first-ever opinion recommending orphan designation based on the so-called “insufficient return on investment” criterion for a booster vaccine for prevention of tuberculosis. Designation was recommended on the grounds that marketing of the vaccine would be unlikely to generate sufficient return to justify the necessary investment.

In addition, a further 12 positive opinions on orphan designation for medicinal products were adopted on the criterion of prevalence for the following indications:
  • for treatment of primary malignant bone tumours
  • for treatment of peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated)
  • for treatment of acute peripheral arterial occlusion
  • for treatment of malabsorption due to exocrine pancreatic enzyme insufficiency
  • for treatment of nephrotic syndrome
  • for treatment of cystic fibrosis
  • for treatment of glioma
  • for treatment of systemic sclerosis
  • for treatment of localised scleroderma
  • for treatment of malabsorption due to exocrine pancreatic enzyme insufficiency
  • for treatment of Staphylococcus aureus bacteraemia
  • for treatment of cardiogenic shock

  • Prior to this meeting, in August, the Committee adopted one positive opinion for orphan designation of a medicinal product, via written procedure, for the treatment of chronic eosinophilic leukaemia and the hypereosinophilic syndrome.

    EMEA COMP opinions in August and September 2005

    At the Committee for Medicinal Products for Human Use (CHMP) plenary meeting held on 12 –15 September 2005, naglazyme became the 23rd orphan medicinal product to receive a positive CHMP opinion for initial marketing authorisation. Naglazyme is a long-term enzyme replacement therapy in Mucopolysaccharidosis VI, an inherited enzyme deficiency resulting in greater than normal levels of mucopolysaccharides in body tissues.

    The Committee also adopted a positive opinion for the extension of indication for the orphan medicinal product Busilvex (busulfan), to include the conditioning treatment of children prior to conventional haematopoietic progenitor cell transplantation. Busilvex was first authorised in the European Union on 9 July 2003.

    EMEA CHMP opinions in September 2005

    Details of all orphan designations and authorisations granted to date by the European Commission are entered in the Community Register of Orphan Medicinal Products

    New designations & authorisations in USA
    FDA decisions July - September 2005
    Between July and September 2005, the US Food & Drug Administration awarded orphan designation to 18 medicinal products for the following indications:

  • Treatment of somatostatin receptor-positive neuroendocrine gastroenteropancreatic tumours
  • For neoadjuvant therapy in patients with squamous cell carcinoma of the head and neck
  • Treatment of bone sarcoma
  • Treatment of paediatric patients with ulcerative colitis
  • Treatment of renal cell carcinoma
  • Reduction of the risk of breast cancer in postmenopausal women
  • Treatment of lipase deficiencies, including Wolman Disease and cholesteryl ester storage disease
  • Treatment of osteogenic sarcoma
  • Treatment of painful HIV-associated neuropathy
  • Use in the Management of patients undergoing continuous renal replacement therapy (CRRT) with hemofiltration
  • Treatment of idiopathic hypereosinophilic syndrome including acute and chronic eosinophilic leukaemia
  • Treatment of postherpetic neuralgia
  • Treatment of systemic mastocytosis without the D816V c-kit mutation
  • Treatment of ovarian cancer
  • Treatment of soft tissue sarcoma
  • Treatment of chronic lymphocytic leukaemia
  • Prevention of post-transplantation lymphoproliferative disorders in paediatric recipients of solid-organ transplantation
  • Treatment of mastocytosis

  • A full list of all US designations and marketing approvals can be found here

    Drugs for exceptionally rare diseases: do they deserve special status for funding?
    A paper, from the Centre for Economics and Policy in Health, at the University of Wales,UK, exploring whether ultra-orphan drugs merit special status by considering efficiency, effectiveness and equity criteria. Mechanisms are discussed for creating a policy that would reduce geographical inequalities in provision of ultra-orphan drugs across Europe.

    QJM ; Epub ahead of print ; 3 October 2005;

    News from the Patients Associations
    Eurordis update
    Campaigning for better informed medical practitioners
    The October edition of the Eurordis newsletter features an interview with Marianna Lambrou, founder of the Greek Alliance of Rare Diseases. She tells her personal story of the struggle she faced to get a correct diagnosis for her daughter’s illness - Tuberous Sclerosis. Her experience illustrates the difficulties still faced by many rare disease patients today.

    Read more in the October Eurordis newsletter

    Zoom on...
    ...Eurochromnet: European rare chromosomes network on the Internet
    Eurochromnet, a virtual network of European support groups active on behalf of people with very rare chromosome disorders, is a good example of how a small amount of collaboration can reinforce individual efforts towards a common goal.

    The network was set up in 2004 after the need for a European level platform for the exchange of ideas and experiences to enhance awareness for rare chromosome disorders in the public, political and scientific arenas became apparent during a study of the experiences of representatives of support groups active across Europe. The findings of the study, conducted by Annet van Betuw, founder of the Chromosome Help-Station, an Internet-based information service on chromosome disorders and Pauline Evers of VSOP, the Dutch genetic alliance, were summarised in a report entitled ‘European Rare Chromosomes United: a European orientation on people involved'.

    The report highlighted the importance of informal networking as a way of spreading and sharing knowledge and good practice between different national groups, each with a different focus and way of functioning, but with the same goal: recognition for rare chromosome disorders.

    Eurochromnet currently has 14 member groups ranging from the UK-based ‘Unique’, which has 4750 members in 66 countries, covering a range of chromosome disorders to the smaller, more specific European Chromosome 11q Network which has 75 members in 12 countries.

    Because of the very small numbers of people affected by each individual chromosome disorder, even by rare disease standards, there is an enormous need for affected families to have the possibility to contact other families elsewhere in Europe. Even within the world of rare diseases, people with very rare chromosome disorders feel alone because there is very little awareness of these conditions, most of which have no classification code and therefore no official recognition.

    For Annet van Beuw, the Eurochromnet network fills a gap in the existing patients support group arena in Europe. “Many national associations for rare diseases focus their attention on disease and its treatment, and on orphan drugs in particular. However, most people with a very rare chromosome disorder do not have a rare illness as such and do not generally need orphan drugs”, she says. “This also means that pharmaceutical companies and other big funders are not interested”, she adds.

    Because knowledge on very rare chromosome disorders is so scarce, both scientifically and in the wider social context, Eurochromnet works in close collaboration with other European initiatives such as Eurordis, for patient lobbying, and on the research and clinical side with ECARUCA, a European database funded by the European Union that collects cytogenetic, molecular and clinical data of rare unbalanced chromosomal aberrations from (cyto)genetic centres across Europe, to ensure an optimal exchange of information in all areas affecting rare chromosome disorders.

    Alongside a monthly newsletter, currently the main platform for exchange, Eurochromnet’s next project is to develop a professional multilingual web portal to ensure greater visibility and ensure that information gets to the people affected by rare chromosome disorders. Eurochromnet partners are currently looking at ways to raise the money to launch their web portal project.

    Working together at the European level brings its own set of challenges. Much of the documentation available needs to be translated if it is to be made accessible to patients and their families. In addition, for those already busy running national support groups, many on a voluntary or part-time basis, it is difficult to find time to devote to European-level activities. As a result, members of Eurochromnet have decided to continue working together virtually and only meet together physically once every two years. The first official meeting took place in Luxembourg in June and the next rendezvous is scheduled for 2007 in Denmark.


    Press & Publications
    New books
    Molecular Diagnostics: for the Clinical Laboratorian
    Authors: B. Coleman, G. J. Tsongalis et L. M. Silverman
    Published by Humana, Totowa, NJ; August 2005, second edition

    Therapeutic Proteins - methods and protocols
    Volume 308 of the 'Methods in Molecular Biology' collection
    Authors: C. M. Smales et D. C. James
    Published by Humana, Totowa, NJ; August 2005

    Molecular Autoimmunity
    This publication commemorates the 100th anniversary of the first description of a human autoimmune disease.
    Author: Zouali Moncef
    Published by Springer, New York; July 2005


    What's on where?
    In November
    Fourth International Congress on the Systemic Autoinflammatory Diseases
    This congress will focus on the clinical features, molecular genetics, and treatment of a number of inherited disorders of inflammation.

    Date : 6 - 10 November 2005
    Venue : Bethesda, USA

    Adults With Langerhans Cell Histiocytosis – Orphans With An Orphan Disease
    Organised jointly by the UK’s Royal College of Paediatrics and Child Health and the Royal College of Physicians, this meeting will focus on the basic science and treatment of Langerhans Cell Histiocytosis and the needs of patients suffering from the disease.

    Date: 10 - 11 November 2005
    Venue: London, UK

    Spanish National Rare Disease Conference
    Two days of discussion on rare disease initiatives in Spain and Europe from the perspective of researchers, clinicians and patients.

    Date: 11-12 November 2005
    Venue: Madrid, Spain

    Putting stem cells into practice: ethical, legal and social issues
    The Progress Educational Trust's Annual Conference will discuss the complex ethical, legal and social questions raised by human stem cell research. How should patients, researchers, regulators, funders and society as a whole take these into account?

    Date : 15 November 2005
    Venue : London, UK

    In December
    Euroconference 2005: Gene and cell therapy
    The 2005 Euroconference organised jointly by INSERM and the Institut Pasteur will provide an update on the fast-paced fields of experimental haematology, stem cell biology and corrective gene transfer.

    Date: 1–2 December, 2005
    Venue: Paris, France

    Connecting the genome with diseases: new challenges in the mechanistics of human disorders
    Date: 1-3 December, 2005
    Venue: Barcelona, Spain

    Stem cells: European patients debate the issues
    Patients from up to 34 countries will be invited to participate with other groups to discuss, at a pan European level, many of the issues and challenges relating to stem cell research and its therapeutic applications. Patients will be provided with sufficient and accessible background material relating to stem cell research and will have considerable opportunity to engage with experts in the field.

    Some funding will be available to cover travel/accommodation expenses of patients/patient organisations from the ten new Member States and from the four candidate countries.

    Date: 15-16 December 2005
    Venue: Brussels, Belgium

    In 2006
    2nd PRO RETINA Research Colloquium
    This meeting, organised in cooperation with the European Integrated Project, EVI-GenoRet, will cover major aspects of retinal degenerations and illuminating molecular complexities of the retina.

    Date: 7 – 8 April 2006
    Venue: Potsdam, Germany


    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Dr Ségolène Aymé
    Editor: Sally Goodman
    Contact Us
    Editorial Board: Ségolène Aymé, Aurélie Bedin, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Yann Le Cam, Jordi Llinares-Garcia, Helmut Popper, Elena Prats, John Ryan, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
    For more information on the Rare Diseases Task Force
    Orphanet - All rights reserved