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OrphaNews Europe: communicating about rare diseases in Europe
 
Welcome to the first edition of OrphaNews Europe, a new monthly newsletter from the EC’s Rare Diseases Task Force.

The EU, in the field of Public health, has the objective of promoting and improving health, preventing disease, and countering potential threats to health, with a view to reducing avoidable morbidity and premature mortality and activity-impairing disability. To contribute to the well-being of European citizens, the Community must address in a coordinated and coherent way the concerns of its people about risks to health and their expectations for a high level of health protection. All health-related activities of the Community must have a high degree of visibility and transparency and allow consultation and participation of all stakeholders in a balanced way, in order to promote better knowledge and communication flows and enable a greater involvement of individuals in decisions that concern their health.

The Community population has a right to receive simple, clear and scientifically sound information about measures to protect health and prevent diseases, with a view to improving their quality of life. In the area of rare diseases, the Community action programme 1999-2003 supported a total of 24 projects for an amount of 6.5m euros, only 60% of the available budget. Although many interesting and significant projects were supported, the underutilisation of the available financial resources gives us a clear message that we now need to foster new initiatives and encourage new partnerships. The expansion of the EU in May 2004 to include 10 new member states, and the continuing process of enlargement is yet another challenge, as citizens and health professionals in these countries are still often in urgent need of support and encouragement.

The EU Public Health Programme 2003-2008 also includes rare diseases as an area for support. In order to better follow up the projects supported in the previous rare diseases programme, to link with other public health projects, and to work in close harmony with Community activities on research, on pharmaceutical policy and on patient mobility, the Commission decided to create a specific Task Force on Rare Diseases within the Public Health Programme. The support of health professionals, patient groups and other concerned parties has made this group a dynamic partner in steering the public health programme activities on rare diseases. The first concrete initiative resulting from this partnership is the decision to hold a rare diseases conference later this month in Luxembourg, with the support of Eurordis and other relevant organisations, the European Commission through the EU public health programme, and the Luxembourg presidency of the Council of Ministers.

A second concrete initiative is the launch of this newsletter, which the Commission welcomes as a useful contribution to improving transparency, and increasing the knowledge of rare diseases activities at Community level. I wish the publication and its authors every success with this venture.

John F. Ryan
Head of Unit
Health Information
European Commission


Deadline for submissions

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

Deadline for the next issue is 30 June 2005.


 


 

 
Optimising European collaboration in rare diseases
 
The Rare Diseases Task Force (RDTF) was set up in January 2004 by the European Commission’s Public Health Directorate. The RDTF Leader is Dr Ségolène Aymé, a medical geneticist and director of the Orphanet database of rare diseases. The Deputy Leader is Professor Helen Dolk, director of the Eurocat programme on congenital disorders.

The RDTF currently has 36 members comprising current and former project leaders of European research projects related to rare diseases, member state experts and representatives from relevant international organisations.

The aims of the RDTF are to advise and assist the European Commission Public Health Directorate in promoting the optimal prevention and treatment of rare diseases in Europe, in recognition of the unique added value to be gained for rare diseases through European co-ordination.

For more information visit the RDTF website

 


 

 
Working groups
 
During its first meetings, the Task Force identified the following topics as priorities for in-depth discussions via expert working groups which will meet in 2005/6:

1) Standards of care, including European centres of reference for rare diseases, genetic testing and genetic screening

This working group will initially look at the development of European centres of reference for rare diseases. Its findings will feed into a more general reflection on centres of reference undertaken by the EC’s High Level Group on Health Services and Medical Care. The first meeting of this working group was held in Paris on 3 June 2005. More details can be found here. A full report will be published in next month's newsletter.

2) Coding, classification and data confidentiality

This working group will collaborate closely with WHO on the ICD-10 international classification of diseases and will consider all other existing classifications in order to provide the rare diseases community with a unified system. It will also look at confidentiality issues in the exchange of patient information within and between European states.

3) Public health indicators

This working group will consider the selection of rare diseases with high priority for epidemiological surveillance. It will determine the definition of rare diseases which can be identified in mortality certificates and will work on a feasibility study for using mortality data as public heath indicators.

Readers are invited to submit suggestions for national experts to be members of these working groups by contacting the RDTF Secretariat

 


 

 
RDTF Meetings
 
Third meeting of the Task Force
 
The third meeting of the Rare Diseases Task Force will take place in Luxembourg on 20 June 2005.

Read the draft agenda here.

A report from the meeting will be available in next month’s OrphaNews Europe.

The meeting will be followed, on 21 and 22 June, by the European Conference on Rare Diseases, an event organised by Eurordis, the European Organisation for Rare Diseases, on behalf of the Rare Diseases Task Force, with the support of the European Commission, the Luxembourg EU presidency and the French Association for Muscular Dystrophy (AFM). The conference will bring together patients, researchers, health professionals, health policy experts and industry to address current problems and possible solutions to improve the situation of people living with a rare disease, as well as actions supported by the European Commission.

 


 

 
We want to hear from you!
 
If you want to react to any of the items featured in the newsletter, share additional information with readers or ask a question, please send your comments in to Feedback
 


 

 
The French National Plan for Rare Diseases
 
The French National Plan for Rare Diseases, which runs from 2004 – 2008, was launched in November 2004, making France the only country in Europe to have a major strategy for rare diseases enshrined in national law. The Plan translates the strong political engagement for rare diseases described in the French Public Health Policy law of 9 August 2004.

The publication of the Plan was the culmination of a wide consultation process, associating experts in rare diseases, clinicians and researchers, representatives from patient groups, from the national health insurance, and from the ministries of health and of research.

The Plan proposes a series of concrete measures intended to be coherent and structuring for the organisation of the French system of care provision and to provide a response to the expectations of patients and their families. Its stated aim “to ensure equity in the access to diagnosis, to treatment and to provision of care” for people suffering from a rare disease is channelled through ten strategic priorities:

- To increase knowledge of the epidemiology of rare diseases

- To recognise the specificity of rare diseases

- To develop information for patients, health professionals and the general public concerning rare diseases

- To train professionals to better identify them

- To organise screening and access to diagnostic tests

- To improve access to treatment and the quality of healthcare provision for patients

- To continue efforts in favour of orphan drugs

- To respond to the specific needs of accompaniment of people suffering from rare diseases and develop support for patients’ associations

- To promote research and innovation on rare diseases, notably for treatments - To develop national and European partnerships in the domain of rare diseases

Read the National Plan for Rare Diseases in English or in French.

Access the French national centres of reference dossier in English

 


 

 
Interview
 
Dr Alexandra Fourcade, French Ministry of Health
 
Dr Alexandra Fourcade is a hospital practitioner and project director for the French National Plan for Rare Diseases and the French National Plan for Quality of Life for People with Chronic Disease at the Ministry for Solidarity, Health and the Family. OrphaNews Europe asked her about the initial impact of the National Plan for Rare Diseases and in particular about the designation of the first centres of reference for rare diseases, one of the keystones of the French initiative.

Read the interview with Alexandra Fourcade

 


 

 
DG SANCO
 
New EC programme for Health and Consumer Protection
 
On 6 April 2005 the European Commission adopted a Health and Consumer Protection Strategy and a proposal for a Community Programme for Health and Consumer protection 2007-2013 for approval by the European Parliament and Council.

The strategy and programme proposal bring together and extend the current EU Public Health Programme and the current programme in support of EU consumer policy.

As in the previous Public Health Programme, rare diseases are mainly considered under the health information strand - “Developing strategies and mechanisms for preventing, exchanging information on and responding to rare diseases”(see Annex 2, 6.8) - but are also part of a new strand on the prevention of diseases and injuries (see 3.2.4) through secondary prevention measures such as screening and early detection through exchange of good practice, platforms, studies and networking, when cross-border action is justified in terms of efficiency. Synergies are envisaged with the 7th Framework Programme for Research.

In consolidating two programmes into one, the Commission aims to exploit synergies between health and consumer policies. Actions under Treaty articles 152 (public health) and 153 (consumer protection) share many objectives such as promoting health protection, safety, information and education. Bringing the two policies together also generates greater policy coherence, economies of scale, increased visibility and streamlining of procedures, and reinforces the potential to ensure that citizens’ interests are taken into account across the board in EU policies.

A budget of 1203 million euros is envisaged for the new programme compared to 354 million euros for the current public health programme which runs from 2003-2008.

The full document is available here in English, French and German.

 
Open consultation on technical requirements for human tissues and cells
 
DG SANCO is conducting an open consultation on draft technical requirements related to the coding, processing, preservation, storage and distribution of human tissues and cells foreseen by Directive 2004/23/EC adopted in March 2004. The Directive empowers the Commission to establish and update technical requirements in relation to the quality and safety of human tissues and cells related to all processes from donation to distribution.

In August 2004, the Commission launched a draft document for open consultation which aimed to cover all human cells and tissues and all manufactured products derived from them, which are used for application to the human body, during donation, procurement and testing in order to ensure their quality and safety. The Commission has now prepared a second draft document addressing the technical requirements for processing, preservation, storage and distribution of human tissues and cells. This draft document incorporates the criteria for accreditation/designation/authorisation/licensing of tissue establishments, including quality system requirements.

This document reflects the technical annexes adopted by the Commission in the original proposal for the Directive which were removed during the legislative process and, in addition, extensive comments and contributions received from a Commission working group of experts, representing the tissue and cell community, and including the Council of Europe.

The Commission invites comments on these draft technical requirements which should be sent to DG SANCO by 24 June 2005.

 
http://europa.eu.int/comm/health/ph_threats/human_substance/oc_tech_cell/oc_tech_cell_en.htm
 


 

 
DG Research
 
New framework programme for research
 
A proposal for the 7th Framework programme (FP7) for research running from 2007 – 2013 was announced in April. The programme proposes an 8.3 billion euro budget for health research out of a total budget of nearly 73 billion euros.

Whilst the detailed programme themes have yet to be defined, there is a strong emphasis on translational research in the area of health, developing patient-oriented strategies from prevention to diagnosis and treatment including clinical research.

The importance of collaborative research for rare diseases is also highlighted: developing new diagnostics and treatments for these disorders requires multi-country approaches to increase the number of patients for each study and performing health policy-driven research at the European level enables comparisons of the models, systems, data, and patient material held in national databases and biobanks.

Compared with its predecessor FP6, proposals for the new programme place far less emphasis on the specific funding mechanisms that will be used. For trans-national projects launched under the nine thematic areas, three main instruments are identified: collaborative projects, which will range form small-scale, focused research actions to large integrating projects, Networks of Excellence bringing together a number of institutions in a given field, and coordination and support actions, such as networking, exchanges and access to research infrastructures.

 
http://www.cordis.lu/fp7/
 
European Commission plans for 170 million euro call for SMEs
 
The European Commission has announced its intention to have a call especially dedicated to SMEs in the last part of the Sixth Framework Programme. To explain how this will work, Emerging Biopharmaceutical Enterprises (EBE) and European Commission experts are organising a workshop in Brussels on 28th June 2005.

The SME call will mean some 170 million euros being made available for SME projects. Bearing in mind the challenges facing SMEs in applying for the funds, this workshop will cover the following aspects:

The specific topics contained in the call and what aspects the European Commission will be looking for;

- Success stories from those who have used EU funds to establish and develop a successful business;
- Specialised presentations from the network of national experts funded by the European Commission to help applicants through the process of gaining access to the funds
- Participation of experts from the European Commission to answer questions

In order to maximise participation, SMEs do not have to lead the consortium, but the majority of funding needs to be channelled into SME-led research.

This is a special effort by the EC Life Sciences, Genomics & Biotechnology for Health Research Programme to support research-intensive SMEs in the sector.

 
http://www.ebe-biopharma.org/conferences.htm
 


 

 
DG Enterprise
 
Human tissue engineering and beyond: consultation on advanced therapies
 
The European Commission’s DG Enterprise and Industry has drafted a proposal for a regulatory framework on human tissue engineered products which is now available for consultation and comments.

Human tissue engineering combines various aspects of medicine, cell and molecular biology, materials science and engineering, for the purpose of regenerating, repairing or replacing diseased tissues. Current applications of this nascent field of “regenerative medicine” include treatment for skin, cartilage and bone diseases or injuries and more complex products are already in development. These advanced therapies (gene therapy, cell therapy, and tissue engineering) hold great promise for improved treatment opportunities for patients with rare disorders. However, tissue engineered products currently lie outside any legislative framework. The lack of an EU-wide classification and authorisation process leads to divergent approaches across Member States, which impairs the free movement of human tissue engineered products and hinders patients’ access to these innovative therapies.

A first round of consultation took place in 2002 and 2004. On the basis of these previous consultations, the Commission has prepared a proposal to bridge the regulatory gap, by addressing all advanced therapies (i.e. gene therapy, somatic cell therapy, and human tissue engineering) within a single, integrated and tailored framework, fully taking into account their scientific and technical inherent characteristics, as well as the specificities of the economic operators concerned.

The main elements of the draft proposal are:

-centralised marketing authorisation procedure;
-expert committee for advanced therapies to be set up within the European Medicines Agency;
-guidance on good manufacturing practice;
-requirements for risk management and post-authorisation traceability;
-financial and administrative incentives for SMEs to develop new therapies;
-principles on human rights and respect for dignity of the individual.

All interested parties are invited to send comments on the Consultation paper and Draft Regulation to Nicolas Rossignol at DG Enterprise Pharmaceuticals Unit by 20 June 2005.

Eurordis, the European Organisation for Rare Disorders, already supports European harmonisation in this field by coordinating a European network of biological material banks (EuroBioBank), specialised in the collection of DNA, tissues and cells from patients affected by rare diseases.

 
http://pharmacos.eudra.org/F2/advtherapies/docs
 


 

 
EMEA
 
Biobank issues relevant to pharmacogenetics: EMEA calls for comments
 
The European Medicines Agency (EMEA) committee for medicinal products for human use (CHMP) has issued a draft concept paper on the development of a guideline on biobank issues relevant to pharmacogenetics, for external comment and consultation.

Biobanks are defined as collections of samples of human substances (e.g. cells, tissue, blood, or DNA) that are, or can be, associated with personal data and information on their donors. It is likely that in the future pharmacogenetics testing in clinical trials and large scale epidemiological studies will be increasingly considered in pre- and post- approval development and assessment of medicinal products. The use of genetic and other data from biobanks for these purposes may raise some new regulatory issues.

The following regulatory and technical areas will be addressed:
- Points to consider in defining the procedures for collecting, storing, handling/curing and analysing samples and relevant data for pharmacogenetics purposes.
- Implications of removing from samples and data identifying information in pre and post authorisation assessment of medicinal products.
- Systems of quality assurance and quality control

Comments on the Guideline should be sent to the EMEA Pharmacogenetics Working Party Secretariat by 30 June 2005.

 


 

 
European Parliament
 
European Parliament proposes changes to EU stem cell research funding
 
The European Parliament has adopted a new resolution on trade in human egg cells and in so doing changed its position on EU funding of stem cell research.

In a resolution adopted during its March plenary meeting in Strasbourg, the European Parliament asked the European Commission to apply the principle of subsidiarity when funding research with human embryos and human embryonic stem cells. This means that such research should be financed from the member states’ national budget in those countries where it is legal. EU funding should concentrate on alternatives like somatic stem cell and umbilical cord stem cell research, which are accepted in all Member States and have already led to successful treatment of patients.

The Parliament also asked the Commission to exclude human cloning from funding under the 7th Research Framework Programme in keeping with the United Nations Declaration on Human Cloning adopted on 8 March 2005.

Previous legislation called only for the exclusion of the creation of human embryos, including therapeutic cloning, from financing from the European research budget. Financing of research with human embryonic stem cells and supernumerary embryos was approved by the last Parliament.

The European Commission has not yet taken a position on the Parliament’s resolution and it remains unclear how future research in the 7th Framework Programme will be affected.

 


 

 
Policy developments in EU member states
 
UK commits to gene therapy trials for inherited diseases
 
The UK government is committed to ensuring that the UK remains at the forefront of innovative medical research and has provided funding towards new gene therapy clinical trials for inherited diseases such as Duchenne Muscular Dystrophy, cystic fibrosis and childhood blindness. So said health minister Lord Warner at the launch of the Gene Therapy Advisory Committee’s annual report in April.

GTAC is the specialist ethics committee for gene therapy research in the UK. All gene therapy trials need approval from GTAC, based on ethical criteria for research involving human subjects, before they can go forward.

The annual report gives details of the eleven gene therapy trials approved by GTAC in 2004, together with summaries of completed gene therapy trials and an analysis of 96 trials carried out in the UK. GTAC is likely to consider the new trials for inherited diseases in 2005 or 2006.

 
UK Stem Cell Initiative launched
 
The establishment of a UK Stem Cell Initiative was announced in March by the British government. The terms of reference of the Initiative are:

- to develop a ten-year vision for UK stem cell research, which seeks to make the UK the most scientifically and commercially productive location for this activity over the coming decade, and which commands the support of public and private research funders, practitioners and commercial partners;
- to present a costed plan to Government and business for implementation over 2006-2015, to inform future public spending reviews and private sector investment planning;
- to identify options for better coordinating and leading UK stem cell research and commercial translation in the coming years;
- to report back to the UK Government before the Pre-Budget Report 2005 (anticipated late autumn 2005).

National coordination of the UK Stem Cell Initiative is achieved via a UK Funders Coordinating Committee comprising relevant Research Councils and charities in addition to national regulatory agencies, while international coordination is achieved via a Policy Forum comprising 13 funding representatives from 12 countries with national stem cell initiatives.

Embryonic stem cell research is permitted in the UK. It is regulated by the Human Fertilisation and Embryology Authority, established in 1991. All embryo research in both the private and public sector is subject to a case by case review by the HFEA before any license to permit research is issued.

 
French Biomedicines Agency open for business
 
A new regulatory authority for biomedicine was inaugurated in France on 10 May. The Agence de Biomédecine, will have responsibility for activities linked to procreation, embryology, human genetics, organ transplant, and tissue and cell sampling.

The four principal missions of the Agency are:
Control and regulation : The Agency will deliver authorisations for practitioners and biologists working in human procreation, embryology and human genetics. It will also deliver authorisations for the creation of preimplantation diagnostic centres and multidisciplinary prenatal diagnostic centres. It will control these activities and will particularly oversee medically-assisted procreation activities.
Scientific expertise : The Agency will become the reference authority in France for all scientific and medical activity linked to transplants, procreation, prenatal diagnosis, genetics and embryo research.
Scientific surveillance : The Agency will permanently oversee developments in knowledge and techniques in the areas coming under its competences on behalf of government and parliament. It will propose appropriate measures, taking into account the ethical and legal questions raised by these activities.
Evaluation and transparency : The Agency will make its activities, and an analysis of its results, known to the public and professionals.

The Agency for Biomedicine was created by new bioethics legislation passed on 6 August 2004 and which came into force earlier this year. This new legislation ended the previous ban on embryo research in France by allowing French researchers to work on surplus human embryos no longer required for in vitro fertilisation.

 
http://www.agence-biomedecine.fr/
 
Therapeutic cloning legal in Sweden
 
The creation of human embryos using somatic cell nuclear transfer is now legal in Sweden, governed by legislation that came into effect on 1 April. An amendment to the 'Activities Involving Human Eggs for Research or Treatment Purposes Act' of 1991 means that Swedish researchers can now carry out research on embryos, created by either in vitro fertilisation (IVF) or SCNT, up to 14 days old.
 


 

 
Policy developments in EU candidate countries
 
Raising awareness in Eastern Europe
 
The “Promotion of Healthcare and Research on Rare Diseases and Orphan Drugs in Eastern European Countries” conference, the first of its kind to be held in Eastern Europe, took place on 27 May 2005 in Plovdiv, Bulgaria.

The aim of the conference was to raise governmental and public awareness in Eastern Europe on rare diseases and orphan drugs. The conference was organized by the Bulgarian Association for Promotion of Education and Science (BAPES) with the official support and partnership of the Bulgarian Ministry of Health and the Mayor of Plovdiv.

Speakers’ presentations covered subjects from the perspective of orphan medicines from a biotech company (Genzyme), to health care models in a transition economy (Croatia), increasing awareness of rare diseases (Orphanet) and the role of patient associations for improving the quality of life of people with rare diseases (Eurordis).

This first and very important event was supported by Genzyme as the main sponsor, along with Sanofi-Aventis and TKT Europe, and by the official partners ‘All Channels Communication’ and Neoprint.

Whilst three quarters of conference participants came from academia, government, patient associations and industry were also represented. At the opening ceremony, participants were addressed by Ivan Chomakov , the Mayor of Plovdiv, and Catherine Berens of the EC’s DG Research. An official representative of the Bulgarian Ministry of Health read a welcome letter on behalf of Slavcho Bogoev, the Bulgarian Minister of Health.

Information about the conference will be disseminated all over the world as a result of a creative initiative by the Union of Bulgarian Philatelists. The Union issued a jubilee first day cover and a special postmark in support of the event to increase public awareness on the problems of patients with rare diseases and the need for extensive global research.

Many medical professionals from Eastern European countries registered a high level of interest in the topic of rare diseases and orphan drugs but some were unable to attend the meeting in Bulgaria due to financial reasons. For this reason, the speaker presentations are being made available online in video and PDF form giving free access to all interested parties.


 
http://www.raredis.org
 


 

 
International policy
 
US Guidelines Released for Embryonic Stem Cell Research
 
The US National Academies, the nation's main independent science advisory board, has issued guidelines for research involving human embryonic stem (hES) cells, and urged all institutions conducting such research in the USA to establish oversight committees to ensure that the new guidelines will be followed. Produced by the NAS National Research Council and Institute of Medicine, the voluntary guidelines are intended to enhance the integrity of privately funded human embryonic stem cell research by encouraging responsible practices.

“A standard set of requirements for deriving, storing, distributing, and using embryonic stem cell lines -- one to which the entire U.S. scientific community adheres -- is the best way for this research to move forward," said Richard Hynes, Professor of Cancer Research at the Massachusetts Institute of Technology, one of the project committee co-chairs.

Central to the recommendations is a dual system of oversight at the institutional and national levels. The guidelines also cover the hES cell procurement process, adherence to standards of clinical care, compliance with relevant regulations, banking of hES cell lines and the need for a regular national policy review.

The guidelines were published in an uncertain climate for public research on hES cell research in the US. On 24 May, the US Congress passed a bill to expand federal financing for this type of research, defying a veto threat from President Bush, who warned the measure "would take us across a critical ethical line by creating new incentives for the ongoing destruction of emerging human life". The new bill – which is still to be debated in the US Senate - permits the US government to pay for studies involving human embryos that are in frozen storage at fertility clinics, as long as couples conceiving the embryos have certified that they had made a decision to discard them. The former legislation, passed in 2001, limited federal financing to studies of those stem cell lines that had already been created.

 
Human genetics advisory committee established in Australia
 
The Australian Government will provide new funding of 7.6 million Australian dollars over four years from 2005-06 to establish an independent expert advisory body on human genetics as a principal committee of the National Health and Medical Research Council.
 


 

 
Other international news
 
Centre for Arab Genomic Studies launches genetic data collection
 
The Centre for Arab Genomic Studies (CAGS), based in Dubai in the United Arab Emirates, has initiated an ambitious project to establish a comprehensive Catalogue of Transmission Genetics in Arabs with the aim of informing the scientific community and the public about the occurrence of inherited disorders in Arabs and to suggest future investigation strategies. Data on genetic disorders has already been collected in the United Arab Emirates and collection is planned in other countries such as Bahrain, Saudi Arabia, Lebanon and Egypt.

CAGS has also recently launched a bi-monthly newsletter and calls for colleagues working in health-related research to send in information that could be of interest to the science community in the Arab World.

 


 

 
EU project focus
 
EUMITOCOMBAT: combating OXPHOS disorders
 
Mitochondrial DNA (mtDNA), and the machinery that maintains and expresses it, constitute a partially autonomous genetic system within eukaryotic cells, encoding functions at the core of energy metabolism that are essential for life. Defects in the mitochondrial oxidative phosphorylation (OXPHOS) system, the principal circuit for cellular energy production, lead to often fatal, multi-system disorders affecting organs and tissues with a high-energy demand.

The EUMITOCOMBAT consortium, consisting of 12 partners encompassing 21 scientific groups from nine different countries, aims to integrate and extend knowledge on basic aspects of OXPHOS biology and the pathobiological cascades underlying OXPHOS disease manifestation in humans. The project, which started in July 2004, has been funded over 4 years under the European Commission’s FP6 “Combating major diseases” thematic area. It aims to obtain a detailed understanding of the clinical and pathobiological consequences of OXPHOS disease in order to develop new treatment strategies for patients. All of the major European groups active in the forefront of OXPHOS research are participating in the project, including the Nobel Prize laureate, Professor Sir John Walker.
Read more

 
http://www.eumitocombat.org
 
Printo website for families of children with rheumatic disease
 
Printo website for families of children with rheumatic disease PRINTO/PRES is an international web-site for families of children with rheumatic diseases, supported by the European Commission’s DG SANCO and by IRCCS G. Gaslini of the University of Genoa, Italy.

The web-site contains 3 main sections. The first section gives families an up-to-date description on the characteristics of 15 paediatric rheumatic diseases. The second section provides a list of paediatric rheumatology centres and the third section gives contact information for family self-help associations. The latest version of the website now covers 45 countries in 52 languages (with another 3 in progress).

A total of 291 surveys from 171 centres and 102 family associations, were received from 42 countries for the preparation of the web-site. The surveys showed that in the centres examined 100% of time was spent in paediatric practice with 70% of this time dedicated to paediatric rheumatology patient care. 90% of the centres were willing to perform clinical trials in the future.

The PRINTO/PRES website provides a well-defined and competent set of information on paediatric rheumatic diseases, with appropriate multiple translated versions and easy web navigation. A paper describing the project in detail is now available in the Annals of the Rheumatic Diseases

 
http://www.printo.it/pediatric-rheumatology/
 
Final activity reports from DG SANCO- funded projects on rare diseases
 
- European Network on the Epidemiology, Pathophysiology and Treatment of Severe Chronic Neutropenia: Final report on line.

- Establishing European neurofibromatosis lay group network: Final report on line.

 


 

 
New diseases & syndromes
 
New diseases and syndromes published on PubMed in April and May 2005
 
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children
 
Neurology ; 64(8):1411-6 ; 26 April 2005
 
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
 
Neurology ; 64(8):1461-4 ; 26 April 2005
 
A novel syndrome resembling Desbuquois dysplasia
 
Am J Med Genet A. ; 132(1):68-75 ; 1 January 2005
 
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter
 
J Med Genet ; 42(5):408-15 ; May 2005
 
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation
 
Eur J Hum Genet ; 13(5):541-6 ; May 2005
 
Nephrogenic syndrome of inappropriate antidiuresis
 
NEJM ; 352: 1884-1890 ; 5 May 2005
 
Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations
 
Neurology ; 64(9): 1638-1640 ; 10 May 2005
 
Novel autosomal recessive progressive hyperpigmentation syndrome
 
AJMG ; Advance on line publication ; 25 April 2005
 
A new syndrome of myopathy with muscle spindle excess
 
Journal of Perinatal Medicine ; 33(2):179-182
 
Autosomal-dominant familial hematuria with retinal arteriolar tortuosity and contractures: A novel syndrome
 
Kidney International ; 67(6) : 2354-2360 ; June 2005
 


 

 
New genes
 
New genes relevant to rare diseases published on PubMed in May 2005
 
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome
 
To read more about "Feingold syndrome"

 
Nat Genetics ; 37(5):465-7 ; May 2005
 
Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1
 
To read more about "Hydrolethalus"

 
Human Molecular Genetics ; 14(11):1475-88 ; 1 June 2005
 
Fatal Congenital Heart Glycogenosis caused by a recurrent activating R531Q mutation in PRKAG2, not by phosphorylase kinase deficiency
 
American Journal of Human Genetics ; 76(6): 1034-1049 ; June 2005
 
A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis
 
To read more about ""

 
Science ; Advanced on line publication ; 5 May 2005
 
Roberts syndrome is caused by mutations in ESCO2, a human homologue of yeast ECO1, essential for the establishment of sister chromatid cohesion
 
To read more about "Roberts syndrome"

 
Nat Genet. ; 37(5):468-70 ; May 2005
 
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs
 
To read more about "Fraser syndrome"

 
Nat Genetics ; 37(5):520-5 ; May 2005
 


 

 
New clinical research
 
Industry facilitates disclosure of clinical trial information...
 
The International Federation of Pharmaceutical Manufacturers and Associations (IFPMA) announced last month the launch of a new internet search portal to provide patients and physicians with full information about ongoing and completed clinical trials. The new tool aims to provide fast, user-friendly access to all data made available by the research-based pharmaceutical industry on clinical trial registries and databases worldwide.

In January 2005, the innovative pharmaceutical industry represented by IFPMA, the European Federation of Pharmaceutical Industries and Associations (EFPIA), the Japanese Pharmaceutical Manufacturers Association (JPMA) and the Pharmaceutical Research and Manufacturers of America (PhRMA) committed to increasing the transparency of clinical trials sponsored by member companies through a Joint position on the disclosure of clinical trial information via clinical trial registries and databases.

Specifically, the industry volunteered to publicly disclose summary results of all industry-sponsored clinical trials of medicines that have been approved for marketing via free, publicly accessible databases, regardless of trial outcome. In addition, the industry will publicly register new clinical trials being performed to determine a medicine’s therapeutic benefit, including information on how patients and clinicians can enrol in such studies.

Trial results will be published in a standard, non-promotional summary that will include a description of trial design and methodology, results of primary and secondary outcome measures described in the protocol, and safety results. If the results are published in a peer-reviewed medical journal, the database will include a link to the relevant article. The results will be published within one year after the medicine is approved or, for post-approval trials, within one year of trial completion.

IFPMA will work with IBM to develop the internet search portal which will be active from September 2005.

 
…while journal editors reinforce call for transparency
 
The medical journals are reinforcing their call, launched last year, for further transparency in clinical trials. In September 2004, the members of the International Committee of Medical Journal Editors (ICMJE) published a joint editorial aimed at promoting registration of all clinical trials. They stated that they would consider a trial for publication only if it has been registered before the enrolment of the first patient. This policy applies to trials that start recruiting on or after 1 July, 2005. Ongoing trials will be considered for publication if they are registered before 13 September, 2005.

The editors have now published a new editorial which clarifies some of the issues raised by the first publication, notably which trials need to be registered and which data set must be provided for registration. The ICMJE has decided to adopt the WHO’s minimal data set of 20 required fields.

The registry must be electronically searchable and accessible to the public at no charge. It must be open to all registrants and not for profit and must have a mechanism to ensure the validity of the registration data.

A complete registry of trials would, says the ICMJE, be “a fitting way to thank the thousands of participants who have placed themselves at risk by volunteering for clinical trials. They deserve to know that the information that accrues from their altruism is part of the public record, where it is available to guide decisions about patient care, and deserve to know that decisions about their care rest on all of the evidence, not just the trials that authors decided to report and that journal editors decided to publish”.

 
New service for patient recruitment to clinical research
 
Orphanet, the European portal of rare diseases, has launched a new service offering patients suffering from rare diseases the opportunity to volunteer for active participation in the development of therapeutic research. Registered patients are informed of ongoing and new clinical studies of interest to them and remain free to choose whether or not to take part.

Recruitment takes place through the researcher responsible for the project or the principal investigator in the case of a clinical trial.

For further details, and to register, visit the Orphanet website

New clinical trials in the Orphanet database:

Effects of long chain n-3 polyunsaturated fatty acids on oxidative stress in patients with cystic fibrosis

This is a multi-centric trial taking place in France.

e-MIG-HD Extension of Multicentric intracrebral Grafting In Huntington's Disease

This is an international multi-centric trial.

Efficacy and safety assessment of the use of bicalutamide* with anastrozole* for the treatment of gonadotrophin-independent precocious puberty in boys with testotoxicosis (*not licensed for use with this condition)

This is an international multi-centric trial.

 
Clinical research relevant to rare diseases published on PubMed in May 2005
 
STK11 genotyping and cancer risk in Peutz-Jeghers syndrome
 
To read more about "Peutz-Jeghers syndrome"

 
J Med Genet ; 42(5):428-35 ; May 2005
 
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
 
To read more about "Potocki-Shaffer syndrome"

 
Eur J Hum Genet ; 13(5):528-40 ; May 2005
 
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia
 
To read more about "Pseudoachondroplasia"
To read more about "Multiple epiphyseal dysplasia"

 
Eur J Hum Genet ; 13(5):547-55 ; May 2005
 
Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
 
To read more about ""

 
J Med Genet ; 42(5):390-5 ; May 2005
 
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy
 
To read more about "X-linked adrenoleukodystrophy"

 
Human Molecular Genetics ; 14(10): 1293-1303 ; 15 May 2005
 
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
 
NEJM ; 352: 1985-1991 ; 12 May 2005
 
Efficacy and Safety of Rufinamide Adjunctive Therapy in Patients with Lennox-Gastaut Syndrome (LGS)
 
To read more about "Lennox-Gastaut syndrome"

 
Neurology ; 64(10): 1826 ; 24 May 2005
 


 

 
New therapeutic & diagnostic approaches
 
Therapeutic and diagnostic research relevant to rare diseases published on PubMed in May 2005
 
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease
 
To read more about "Krabbe disease"

 
NEJM ; 352: 2069-2081 ; 19 May 2005
 
Combined therapy with somatostatin analogues and weekly pegvisomant in active acromegaly
 
To read more about "Acromegaly"

 
The Lancet ; 365: 1644-1646 ; 7 May 2005
 
Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies
 
Archives of Neurology ; 62: 709-710 ; May 2005
 


 

 
New databases
 
Hellenic National Mutation Database
 
A prototype database for mutations leading to inherited disorders in the Hellenic population
Read the PubMed summary

 
Human Mutations ; 25(4):327-33 ; April 2005
 


 

 
Genetic testing
 
Quality Assurance and Proficiency testing for molecular genetic testing: OECD survey
 
An OECD report published in April presents recommendations for action to assure the quality of human genetic testing and the proficiency of those that carry out such tests. It provides the first detailed information about the availability and extent of molecular genetic testing throughout OECD member countries as well as existing quality assurance practices in use in testing laboratories, including policies regarding samples and genetic data handling, and trans-border flow of specimens.
 
US launches Genetic Testing Quality Control Materials Programme
 
The US Centers for Disease Control and Prevention (CDC) has been involved for many years in efforts to develop appropriate and verified quality control materials for use by the genetic testing community. A new CDC-based programme – the Genetic Testing Quality Control Materials Program (GTQC) has recently been established in partnership with the genetics community. The goal of this programme is to coordinate a self-sustaining community process to improve the availability of appropriate and verified materials for quality control, proficiency testing, test development, and research.

Current programmes focus on quality control material for Huntington Disease, Fragile X, Cystic Fibrosis, and the Ashkenazi Jewish Panel disorders. The programme is currently looking for contributions of cell lines or residual blood from patients with these and other rare mutations.


 
http://www.cdc.gov/genomics/files/text/gtestingQC.pdf
 


 

 
New registers & surveys
 
British Paediatric Orphan Lung Disease Registry
 
The British Paediatric Orphan Lung Disease Registry (BPOLD) was launched in February 2005. It aims to establish a registry of nine rare lung diseases in children in the UK. The registry will provide epidemiological data on the prevalence and incidence of individual rare lung diseases and inform research projects which will increase understanding of these diseases and ultimately improve treatment strategies for these children.

The web-based registry includes:

- A Monthly Returns web form, for registered clinicians* to submit monthly details of their paediatric patients with orphan lung disease.
- An Information Resource for clinicians, patients and their families/carers, with the latest knowledge provided on each disease.
- A Support Forum aimed at establishing self-help groups for patients and their families/carers.

 
http://www.bpold.co.uk/
 


 

 
Surveillance
 
EUROCAT: 25 years of European surveillance of congenital anomalies
 
EUROCAT, the European network of registers for the epidemiologic surveillance of congenital anomalies, has a 25 year history. The network covers 1.2 million births per year, a quarter of the births in Europe, and includes almost all population-based registers of congenital anomaly in Europe as its members.

The surveillance of congenital anomalies serves two main purposes : to facilitate the identification of teratogenic (malformation-causing) exposures and to assess the impact of primary prevention and prenatal screening policy and practice at a population level.

Maintaining high quality data usually requires a limit to the total size of the population to be covered by a register, thus the preference in larger nations for regional rather than national registries, networked nationally and at a European level by EUROCAT. Funding for network co-ordination currently comes from the European Commission’s Directorate General for Health and Safety, under its Public Health Programme, as a component of the European information system for rare diseases. EUROCAT is also a WHO Collaborating Centre for the Epidemiologic Surveillance of Congenital Anomalies. The added value of European collaboration is particularly great for congenital anomalies, coming from the opportunity to pool data, to compare data between regions and countries, to give a common response to European public health questions, and to share expertise and resources, including computing tools.

The Objectives of EUROCAT:

- To provide essential epidemiologic information on congenital anomalies in Europe
- To facilitate the early warning of teratogenic exposures
- To evaluate the effectiveness of primary prevention
- To assess the impact of developments in prenatal screening
- To act as an information and resource centre regarding clusters or exposures or risk factors of concern
- To provide a ready collaborative network and infrastructure for research related to the causes and prevention of congenital anomalies and the treatment and care of affected children
- To act as a catalyst for the setting up of registries throughout Europe collecting comparable, standardised data
Read more

 
A new system to study rare disorders of pregnancy launched in UK
 
The UK Obstetric Surveillance System (UKOSS) was launched in February 2005 by the National Perinatal Epidemiology Unit at the University of Oxford, UK. The objective of UKOSS is to develop a UK-wide Obstetric Surveillance System to describe the epidemiology of a variety of uncommon disorders of pregnancy.


 
http://www.npeu.ox.ac.uk/UKOSS/index.php
 


 

 
Feeling lonely?
 
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.

Simply contact OrphaNews Europe and we will publish your request in the next monthly edition.

 


 

 
DG Research calls for proposals
 
Funding for genetic disorders in developing and Mediterranean partner countries
 
Funding is available through the EU 6th Framework/INCO Programme for research on regionally prevalent genetic disorders, including appropriate strategies for integrated case management in developing countries (total 60 million euros) and Mediterranean Partner Countries (total 10 million euros).

Closing date for both calls is 13 September 2005

 


 

 
National calls for proposals
 
French Institute for Rare Diseases
 
The French National Research Agency in collaboration with the French Muscular Dystrophy Association (AFM) have launched a call for projects in rare diseases for the French research community. The aim of the call is to give a significant boost to ambitious projects which are internationally competitive.

The call is managed by the Institute for Rare Diseases (GIS - Institut des maladies rares) as part of the propostions outlined in the French National Plan for Rare Diseases [see Spotlight].

The following themes will be particularly favoured:

- Descriptive and analytical epidemiology
- Natural history and nosology of rare diseases
- Genetic and molecular characterisation and perfectioning of diagnostic tests
- Physiopathology
- Cellular and animal models
- Therapeutic research
- Research into social sciences including the area of handicaps caused by rare diseases.

Deadline for applications: 30 June 2005


 
http://www.institutmaladiesrares.net/encours.html#ao1
 


 

 
International calls for proposals
 
Grants available from US Immunodeficiency Network
 
The US Immunodeficiency Network (USIDNET) is requesting Concept Research Proposals focused on primary immune deficiency diseases. USIDNET will consider Concept Proposals from U.S. and non U.S. citizens. Between 50,000 and 150,000 US dollars are available annually including indirect costs.
 


 

 
Orphan Drug policy issues
 
EMEA Workshop on Orphan Medicinal Products for Patients Representatives and Learned Societies
 
On 4 March 2005, the EMEA hosted the second Orphan Medicinal Product Workshop for Patients Representatives and Learned Societies. Seven representatives of Patients Organisations and twelve representatives of Learned Societies met with members of the Committee for Orphan Medicinal Products (COMP), the European Commission and representatives of the EMEA.

As the EMEA approaches the fifth anniversary of the EU Orphan initiative, this meeting was organised to provide an overview of what has been achieved since the end of April 2000 when EU 'orphan' legislation entered into force and to propose a forum for discussion on the experience acquired to date. The meeting was designed to facilitate the exchange of views and expectations on development and access to orphan medicinal products.

In June 2005 the COMP will report to the European Commission on the experience acquired as a result of the application of the Orphan Regulation and the public health benefits that have been obtained. To prepare for this report, the views of Patients Representatives and Learned Societies are of utmost importance. The COMP report will feed into the upcoming European Commission review of the Orphan Regulation in January 2006.

It was agreed that the following proposals will be taken forward by the EMEA for further consideration:

- to improve communication, and provide more targeted and expanded access to information on orphan medicinal products
- to implement additional measures to facilitate clinical trials in rare diseases such as expert networking, guidance, etc.
- to increase visibility of those medicinal products authorised for rare diseases prior to April 2000 when the Orphan legislation was implemented in the EU.

A full report of the meeting will be made available on the EMEA website

 
Industry issues White Paper on Orphan Medicinal Products
 
Emerging Biopharmaceutical Enterprises (EBE) and the European Association of Bioindustries (EuropaBio) have issued a White Paper entitled Towards an optimal Orphan Medicinal Products (OMP) Framework in Europe.

The White Paper puts forwards suggestions for the optimisation of the European Orphan Medicinal Products Regulation (EC 141/2000).

 


 

 
New designations & authorisations in Europe
 
April/May 2005
 
In April and May 2005, the European Medicines Agency Committee on Orphan Medicinal Products (COMP) adopted the following positive opinions on orphan designation for medicinal products for the following indications:

April
Treatment of cystic fibrosis
Treatment of Duchenne muscular dystrophy
Treatment of cutaneous T-cell lymphoma
Treatment of B-cell chronic lymphocytic leukaemia
Treatment of acute lung injury
Treatment of idiopathic pulmonary fibrosis
Treatment of acathamoeba keratitis
Treatment of idiopathic thrombocytopenic purpura
Prevention of radiation proctitis

EMEA COMP opinions for April

May
Treatment of Huntington's disease
Treatment of pancreatic cancer
Treatment of acute sensorineural hearing loss (acute acoustic trauma, sudden deafness and surgery induced acoustic trauma)
Prevention of recurrent hepatitis C virus induced liver disease in liver transplant recipients
Treatment of Hodgkin’s lymphoma
Treatment of Ep-CAM-positive squamous cell carcinoma of the head and neck
Treatment of multiple myeloma
Treatment of acute lymphoblastic leukaemia
Treatment of hepatocellular carcinoma
Prevention of oral mucositis in head and neck cancer patients undergoing radiation therapy

EMEA COMP opinions for May

In addition, four applications for marketing authorisations for orphan medicinal products were submitted to the EMEA in April and May 2005:

- recombinant human monoclonal antibody to hsp90 for treatment of invasive fungal infections
- rufinamide for treatment of Lennox-Gastaut syndrome
- stiripentol for treatment of severe myoclonic epilepsy in infancy
- 4-(3,5-bis-(hydroxyphenyl)-1,2,4)triazol-1-yl)-benzoic acid for treatment of chronic iron overload requiring chelation therapy

Currently these applications are under review by the CHMP (Committee for Human Medicinal Products).

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
 
April 2005
 
In April 2005, the US Food & Drug Administration awarded orphan designation to 14 medicinal products. A full list of all US designations and marketing approvals can be found here
 


 

 
Genetic professionals' reports of nondisclosure of genetic risk information within families
 
Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. In a prospective study of 12 UK and two Australian regional genetic services investigating the frequency with which genetics professionals become concerned about the failure of clients to pass on such information to their relatives,professionals reported clients' reasons for withholding information as complex, more often citing concern and the desire to shield relatives from distress rather than poor family relationships. In most cases, the professionals took further steps to persuade their clients to make a disclosure but in no instance did the professional force a disclosure without the client's consent.

Read the PubMed Summary

 
Newborn genetic profiling is not yet affordable, says UK report
 
The UK's Human Genetics Commission (HGC) and National Screening Committee (NSC) have published a joint report on the potential testing of newborn babies to detect genetic variations with health implications. The document, entitled 'Profiling the newborn', concludes that routine newborn genetic profiling is not likely to be affordable for at least another 20 years. It also cautions that newborn profiling raises important social, legal and ethical issues, which need to be addressed before such a scheme is launched.
 
New European journal on genomics, society and policy
 
A new peer reviewed online journal “Genomics, Society and Policy” was launched earlier this year. It provides an outlet for interdisciplinary research on the social, ethical and legal aspects of genomics and related emergent technologies such as stem cell research. Submissions are encouraged from a wide range of perspectives, including sociological, philosophical, anthropological and historical. The journal, an initiative of the UK’s ESRC Centre for Economic and Social Aspects of Genomics (CESAGen), the ESRC Genomics Network and the Dutch Centre for Society and Genomics will be published three times a year.
 


 

 
Eurordis update
 
Eurordis: an expanding community
 
Building a community for rare diseases was the theme chosen by Eurordis for its annual general assembly and membership meeting in Venice on 8th and 9th April. Four discussion topics - improved access to diagnosis, the designation of rare disease centres of reference, the law on patient mobility and finding validated rare disease information on the agenda - encouraged representatives from national health agencies and patient organisations and healthcare professionals to share their experiences. The meeting demonstrated that where there is a will to radically improve rare disease patient health care, there is a way.

Read more in the Eurordis newsletter

 
Guidelines for involving patients' organisations in decision-making processes
 
A policy statement and guidelines on patient involvement published by the International Alliance of Patients' Organizations (IAPO) calls on politicians and healthcare and related industry professionals to face the facts. "There is a common need for more coordinated and valued involvement" in the partnerships between patients and policy-makers, notes Jo Harkness, IAPO's Policy & External Affairs Director.

"A simple declaration of intention is not sufficient grounds to claim the patients' assent, particularly where poorly- understood rare diseases are concerned" argues Flaminia Macchia, Eurordis' European Public Affairs Officer. The global policy statement - the first of its kind - delivers a clear message: there are rights and obligations on the part of all parties concerned.

Read more in the Eurordis newsletter

 
Patient representatives ranked as European experts
 
The achievements of the Working Group of the European Medicines Agency (EMEA) and the Committee for Human Medicinal Products (CHMP) with Patients’ Organisations (WGPO) are exemplary. The WGPO has agreed recommendations on pharmacovigilance, information on medicines and transparency of health agency practices to be rolled out on an EU and national level from 2005. This pioneer project, set up in 2002 following the appointment of patient representatives in 2000 to the COMP (Committee for Orphan Medicinal Products), paves the way for further representation by patient collectives on many other issues.

Read more in the Eurordis newsletter

 


 

 
Zoom on...
 
European Marfan Support Network
 
The European Marfan Support Network (EMSN) supports and encourages organisations within Europe by exchanging and sharing information and by working for the benefit of people with Marfan Syndrome (MFS) or related disorders and their families.

The EMSN was established in 1991 by the representatives of the Association Belge du Syndrome de Marfan, the Association Française du Syndrome de Marfan, the Marfan Hilfe Deutschland, the Contactgroep Marfan Nederland, the Marfan Foundation (Switzerland) and the Marfan Association UK. Since then, the Kontaktgroep Marfan (Flemish Belgium), the Danish Marfan Association, the Finnish Marfan Association, the Marfanforeningen (Norway), the Slovak Marfan Association and the Asociacion de Afectados Sindrome de Marfan (Spain) have joined the EMSN as full members. Normally one organisation that is officially recognised in its own country is admitted, but in exceptional cases (e.g. different ethnic groups/organisations in one country) a maximum of two organisations per country can join. The EMSN is funded by its members through a modest membership fee.

EMSN members hold an annual meeting in a different country each year, which is hosted by the local Marfan Association. In exceptional cases, like this year, it will be held in connection with the Seventh International Symposium on the Marfan Syndrome in Ghent, Belgium. on the 14-17 September.

During its existence, the EMSN has seen many changes for the better. Whereas 15 years ago, information on MFS was hard to come by, today's members have access to the latest information on research and treatment through the Internet. In spite of better diagnosis and treatment now being available, which extends the average life span of people with MFS, living with this complex genetic disorder affecting many organ systems is still a major daily challenge.

The success of the EMSN lies in exchanging experiences and information under our motto 'TOGETHER WE CAN' and depends on our close liaison and collaboration to make a real difference to the lives of those affected and their families.

If you would like to contribute news about a European-wide rare disease association or network, please write to Orphanews Europe

 


 

 
Courses
 
Clinical trials in children with rare diseases
 
The course, organised by Orphan Europe Academy in collaboration with the Mario Negri Institute for Pharmacological Research, is aimed at paediatricians with 2 – 5 years of clinical experience in general paediatrics and particularly for those specialised in metabolic diseases.

Deadline for registration: 1 July 2005
Date: 13-14 October, 2005
Venue: Mario Negri Institute for Pharmacological Research, Ranica (BG) Italy

 
Genetic Counselling in Practice
 
Course organised by the European School of Genetic Medicine

Date: 25th- 30th September, 2005
Venue: Bertinoro di Romagna, ITALY

 
Genetics and Health Policy
 
Intensive two-part course organised by the UK Public Health Genetics Unit

Closing date for registration: 8 September 2005
Date: 29 November - 2 December 2005 and 21-23 March 2006
Venue: Wellcome Trust Conference Centre, Hinxton Hall, Cambridge, UK

 


 

 
Educational resources & materials
 
Gen.ethix: a new bioethics teaching resource
 
Gen.ethix is a freely available interactive online game concerning ethical issues raised by advances in biomedicine. Gen.ethix is a joint project of the German Research Group on Bioethics and Science Communication, the German Human Genome Project and the University of Applied Sciences in Potsdam. It is aimed at teachers and students of bioethics and is available in both German and English.
 


 

 
In July
 
8th Annual Nail-Patella-Syndrome Worldwide Conference
 
Grovesnor Resort, Orlando Florida

7-10 July 2005

 
http://www.functionalgenomics.org.uk/sections/activitites/2005/Livshits/Personalized_medicine.pdf
 


 

 
In August
 
26th International Epilepsy Congress
 
Paris, France

28 August – 1 September, 2005

 
http://www.epilepsyparis2005.org/
 


 

 
In September
 
33rd Annual Conference of the European Teratology Society
 
Haarlem, The Netherlands

3 – 7 September 2005

 
http://www.etsoc.com/ets2005/index.htm
 
4th European Meeting of the International Society for Neonatal screening
 
What are the best strategies for the screening of clinically relevant diseases?

Paris, France

September 5-6, 2005

 
http://www.isns-neoscreening.org/Paris/ISNSParis2005Info.htm
 
42nd Annual Symposium of the Society For The Study Of Inborn Errors Of Metabolism
 
The theme chosen for 2005 is “Treatment of Inborn Errors of Metabolism” with plenary sessions on Cell and Organ transplantation, Genetic therapy, Enzyme and Substrate deprivation therapies, and Nutrition therapy and medication.

Paris, France

6-9 September 2005

 
http://www.ssiem2005.com/
 
International Conference On Confidentiality And Privacy In Healthcare In Europe
 
Brussels, Belgium

8-9 September 2005

 
http://www.eurosocap.org/eurosocap-conference.aspx
 
7th International Research Symposium on the Marfan Syndrome
 
Ghent, Belgium

14-17 September 2005

 
http://www.medicongress.com/marfan
 
Harnessing the Potential of Human Population Genetics Research
 
Cambridge, UK

20th – 22nd September 2005

Abstract deadline for posters: 1st July 2005

 
http://www.wellcome.ac.uk/doc_WTX024498.html
 


 

 
In October
 
Epposi Sixth Workshop On Partnering For Rare Disease Therapy Development
 
London,UK

25-27 October 2005

 
http://www.epposi.org/
 


 

 
In 2006
 
11th International Congress of Human Genetics
 
Brisbane, Australia

August 6-10 2006

Deadline for submission of abstracts is 31 January 2006

 
http://www.ichg2006.com/
 


 
OrphaNews, newsletter of the rare disease community
Orphanews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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