10 October 2006 print
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EC Update of EU Incentive Measures Inventory for Orphan Medicinal Products
This state-of-the-art Inventory of the Regulation on orphan drugs adopted in 2000 is "required" reading for the European rare disease community. The report represents the second update in six years based on fresh data collected by Member States at the end of 2005 and completed by the EMEA and Orphanet, the first update having been carried out and published in 2001. Learned societies, patients’ organisations, industry organisations and other relevant stakeholders were contacted and asked to provide information on incentives for rare diseases at the national level. Additional data concerning Community measures was also requested from the relevant services at the European Commission.

The resulting 28-page inventory initially traces the European history of Orphan Medicinal Products (OMPs) and their progressive development, promotion and availability. It explains how during the 1990’s, orphan medicinal products (still officially termed "uneconomic" drugs in Member states’ legislation) were considered as an unviable proposal, rather than a necessity for an expanding and increasingly demanding patient market. It is only in recent years that real headway has been made in terms of tangible results, following the development of a clear European incentives policy designed to lighten and accelerate the hitherto laborious and prohibitive marketing authorisation procedure.

Read the full Editorial ...

Key statistics

No. of applications for OMP designations granted between 2000-2005

Year No. of designations submitted No. of designations granted by EC
2000 72 14
2002 80 49
2005 118 88

2000-2005 >80 protocol assistance procedures completed
Dec. 2005 24 designated OMPs received marketing authorisations
by Dec. 2005 350 experts for European database nominated



RDTF's views presented in Working Group on Centres of Reference of the High Level Group
The views of the RDTF were presented to the Working Group on Centres of Reference of the High Level Group on health services and medical care. In the last edition of OrphaNews Europe we reported on the main conclusions of the RDTF workshop held in Paris on 1 September about Centres of Reference in Europe. On 14 September, these conclusions were presented in Brussels to the Working Group on Centres of Reference of the High Level Group on Health Services and Medical Care (HLG). The RDTF Working Group is preparing a report for the HLG due to be presented to the Health Ministers Council in November this year, providing that translations have been made on time. The discussion led to a consensus on the adoption of the concept of "European Reference Networks" of Centres of expertise as the working concept for Europe. The Working Group of the HLG decided to ask the RDTF to examine methods in order to assess the added value of these European Reference Networks, based on the first pilot projects to be funded by DG Public Health.


E-RARE: Trans-national added value for Rare Disease research
The E-Rare project is now well and truly on track and already looks set to have a real impact on European rare disease (RD) research. This FP6 (the EU Framework Programme for Research and Technological development) coordination action embarked on a 4-year contractual period in June this year.

E-Rare is a project gathering public bodies funding or managing research programmes. It is financially supported through the ERA-Net scheme, a principal means for FP6 to support the networking of research programmes carried out at national or regional level (including their mutual opening, and the development and implementation of shared activities, such as trans-national calls or even joint programmes). E-Rare has a total budget of about 2 million €.

The fundamental precept of the E-Rare project is the firm belief in the ”snowball effect” to be gained from trans-national research on the European level, with the broadening of technological and logistical possibilities for the development of research activity and project expansion through a growing number of nations in partnership.

E-Rare's main objective is to maximize the efficiency and impact of research on rare diseases by providing the environment necessary to bring together clinicians and scientists and gather research infrastructures, patient cohorts and related biological material on a European scale.

One of the first activities scheduled in the work agenda will consist of a survey of national and/or regional research programmes on RDs aiming at identifying common gaps and overlaps in current national initiatives. This survey, together with the common definition of strategic priorities will serve as the basis for the further implementation of joint trans-national actions whilst encouraging a multi-disciplinary approach.

The E-Rare consortium is currently made up of nine full partners, coming from 8 different countries - Belgium, France, Germany, Italy, Israel, the Netherlands, Spain and Turkey ― as well as two affiliated partners from the Russian Federation and the Region of Lombardy in Italy.


…..with Pascale Borensztein & Igor Beitia Ortiz de Zárate, respectively Secretary General & Project Manager of the GIS Maladies Rares, the French Institute for Rare Diseases, responsible for the coordination and financial administration of the E-Rare project.

Orphanews: What are the particular advantages and challenges of a European project such as E-Rare?
PB: This is the first time that so many players from the European RD field have come together on the political research level to exchange and discuss best practices, common strategic issues and joint activities. The RD subject is a difficult one but taking part in the construction of a real RD European movement is an exciting challenge! Of course, we don’t know the precise outcome of this venture, but we’re going for it !

Read the full E-Rare interview with the French Institute for Rare Diseases



Public Health Programme News
Many more applications from the rare diseases (RD) field were received and selected for funding this year than in previous years. At the meeting of the High Level Group, Antoni Montserrat from DG Public Health, presented the main outcomes of the Call for Proposals 2006. It was noted that RD applications received were up to 20 compared to a former annual total of 4 or 5. The evaluation procedures were conducted by the new Public Health Executive Agency. Each project was evaluated by 2 external experts and by a representative from DG Public Health. The moderator was a representative of the Executive Agency with no vote. A list of selected projects was presented to the Public Health Programme Committee made up of Member States representatives. This list includes 10 projects relating to the RD field with a very high success rate (50%) compared to other areas (20%).

The detailed list of projects should be available in time for November's edition of OrphaNews.

New DG SANCO report now online
DG SANCO’s Health Information Unit at the European Commission informs us that its important new report entitled 'Analysing and Reporting on Health' is now available on the DG SANCO website and will soon appear on the EU Health Portal.

This site contains all the health reports produced in DG SANCO, Eurostat and other European Commission DG's as well as links to national systems on health reporting.



Other European news
International Conference on Rare Diseases & Orphan Drugs, Italy
The Italian National Centre of Rare Diseases (Institute of Public Health - Istituto Superiore di Sanità) organised a one-week conference to address major public health issues related to rare diseases and orphan drugs. The one-week conference included 2 international meetings:

  • International Meeting "Rare Diseases and Orphan Drugs" (18 and 19 September)

  • NEPHIRD Conference (20-23 September)

  • Discussing the situation of rare diseases in Italy and in other European and non-European countries, the conference provided a useful framework to identify gaps, priorities and emerging issues. Twenty-two countries attended the meeting including Albania, Armenia, Australia, Bulgaria, Czech Republic, Denmark, France, Hungary, Norway, USA, U.K.

    The conference dealt with the importance of epidemiological registration and surveillance of rare diseases, the diagnostic tests currently available and the need of appropriate counselling and risk communication. In addition, a full day was dedicated to orphan drugs. The USA experience, the EU legislative framework and the COMP-EMEA activities were discussed and specific activities and call for orphan drug research were presented.

    Read the full article...

    2nd Eastern European Conference on Rare Diseases & Orphan Drugs in Plovdiv, Bulgaria
    The 2nd Eastern European Conference on Rare Diseases and Orphan Drugs “FOSTERING RESEARCH ON RARE DISEASES IN EASTERN EUROPEAN COUNTRIES” took place in Plovdiv on 8-9 September 2006. The conference was organized under the auspices of the Bulgarian Ministry of Health with the Mayor of Plovdiv.

    The main aim was to gather researchers and teams from Eastern Europe to present their research on rare diseases and orphan drugs by oral presentations and posters. The Scientific Committee consisted of prominent scientists with extensive experience on the topic. A special panel session with invited speakers from leading institutions from the EU and USA contributed to increasing the knowledge of attendees and presented best standards and practices on rare diseases research. About 180 participants from 21 countries attended the conference, with 16 key speakers from USA, the EU and Bulgaria, 30 oral scientific presentations and 98 posters. A conference book with full text articles of presented research papers will be published soon. Significant support was provided to participants from Eastern European countries, encountering financial difficulties by a fellowship programme.

    A satellite meeting for representatives of patient organisations and patients was organized within the framework of the conference as a joint activity of ICRDOD in collaboration with EURORDIS. The idea of this initiative was to give a chance to people with rare diseases and patient organization representatives from different countries in Eastern and Central Europe to meet each other, to share experience and ideas on how to improve the quality of life of the patients with rare diseases themselves, as well as their families. The meeting also gave a wonderful opportunity to initiate joint projects and activities in this field in the future.



    Conticanet : a European network for rare connective tissue cancers
    Conticanet (CONnective TIssue CAncers NETwork) has recently been launched with the aim of improving care provision for these rare cancers (representing 1%-2% of all cancers). Coordinated by the Claude Bernard University in Lyon, France, and supported by funds of more than 9 million Euros through the EU's FP6 (contract number LSHC CT-2005-18806), the network brings together 20 partners (universities, clinical and industrial partners from 9 European countries (Germany, the UK, Belgium, Spain, France, Ireland, Italy, the Netherlands and Slovenia). Targets include the improvement of the comprehension, diagnostic and clinical management of rare connective tissue cancers, as well as the development of new therapies, data collection, the improvement of researchers' mobility and better integration of methods and legislation at the European level.

    For more details or contact: Simon Baconnier



    New diseases & syndromes
    Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study

    A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features



    New genes
    Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

    Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

    A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

    Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis

    Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

    CRYBA4, a Novel Human Cataract Gene, Is Also Involved in Microphthalmia

    Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness

    Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer

    SUMO1 haploinsufficiency leads to cleft lip and palate

    Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome



    New fundamental research
    Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors

    In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy

    The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells

    CFTR regulates phagosome acidification in macrophages and alters bactericidal activity

    The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

    Laminin {alpha}1 chain improves laminin {alpha}2 chain deficient peripheral neuropathy

    Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport

    Human embryonic stem cell lines derived from single blastomeres



    New clinical research
    Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa

    Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome

    A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness

    Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

    Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%

    Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

    Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer

    Aneurysm syndromes caused by mutations in the TGF-beta receptor

    Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

    Acute health events in adult patients with genetic disorders: the Marshfield Epidemiologic Study Area

    New Clinical Trials
    An international multi-centre test in Germany for Oral Suberoylanilide Hydroxamic Acid in Combination with Bexarotene in patients with advanced cutaneous T-cell Lymphoma.

    An international multi-centre test in Germany for Stable Type 1 Gaucher disease.

    An international multi-centre Italian trial for Juvenile Dermatomyositis (PRINTO JDM Trial).

    The Alliance Sanfilippo Association and PTC Therapeutics have collaborated to launch a proof of concept trial in MPS III.
    The trial was initiated and promoted by the Alliance Sanfilippo association.



    New databases
    POSSUM WEB is launched !
    For those not yet familiar with this service, POSSUM is a computer-based system designed to help clinicians diagnose syndromes based on their patients’ traits. With a team led by Professor Agnes Bankier at the Murdoch Children’s Research Institute in Melbourne, Australia, the system includes information on more than 3000 syndromes, including multiple malformation chromosomal and metabolic conditions and skeletal dysplasias. The POSSUM mediabase includes a wide range of x-rays, diagrams, and histopathology slides which, besides being a diagnosis aid, can also be used as an effective teaching tool.

    The service is currently used by about 500 centres around the world and has recently been re-developed as a web-based programme, POSSUM WEB.

    This new service is being developed for PC and Mac users and beta testing is taking place internationally at several sites. It is expected to be available as a paying subscription service at a cost ranging from US$ 300-1,000 for existing licensees and US$ 2,000 for new licensees, for a single-user site license. Subscribers will be issued with a DVD containing the image database and website links with access to the data on the web. Annual updates will then be charged (cost unspecified, but guaranteed less than US$1000). Website data will be uploaded every two months. The final product is scheduled for release in early 2007.

    Syndrome commentaries provide detailed information about clinical attributes, differential diagnoses, radiology and genetics. Users can link via the internet to OMIM (Online Mendelian Inheritance in Man) for more information about a syndrome. They can also 'snapshot' pictures for a syndrome and organise them on their desktop for useful comparisons. POSSUM software and its 30,000 images are available on CD ROM making it possible to run them on a laptop or notebook computer.

    View a demonstration of POSSUM



    Orphan drug research
    New clinical test results
    The complement inhibitor eculizumab in paroxysmal nocturnal hemoglobinuria



    The Orphanet Report Series
    Orphanet regularly publishes cross-disciplinary papers on rare diseases. To give them greater impact, they are now being published in a collection entitled “The Orphanet Report Series”. An update of the epidemiological data for rare diseases has just been published. The series was devised in partnership with the Alliance Maladies Rares (the Federation of French rare disease patient organisations) and Eurordis. Consult the Orphanet Report series

    Aid and specific services, rare diseases in general and orphan drugs & genetic tests, are expected to feature as subjects of forthcoming reports.

    Journal of Rare Diseases
    New Texts Published:

    Brugada syndrome

    Plummer-Vinson syndrome

    Ollier disease



    Calls for Collaboration
    The following research project leaders would like to hear from readers interested in collaborating on the following projects:

    A Saudi Arabian project on the Scimitar Syndrome

    A project from the Netherlands for dealing with Proteus Syndrome tests.

    Is your research project feeling lonely ? …

    Use OrphaNews Europe’s PartnerSearch if you are looking for partners for your research project, your patients organization, or any other form of collaboration relevant to rare diseases and orphan drugs.

    Simply contact OrphaNews Europe and we will publish your request in next month's edition.



    Rare essentials: drugs for rare diseases as essential medicines
    In this article published in the September issue of the WHO bulletin, Pieter Stolk et al. call for the creation of an Orphan Medicines Model List of drugs for rare diseases, to complement the WHO List of Essential Medicines (EML) compiled in 1977 to provide advice to Member states in their choice of medicines. The fear is that the WHO could lose touch with orphan drugs through too strict an application of their own EML criteria which currently excludes orphan drugs.

    By establishing an Orphan Medicines Model List, argues Stolk, the WHO could explicitly reintegrate this type of medicine into its policy sphere. In addition, developing countries could find this list helpful for the improvement of access to the orphan drugs listed and the stimulation of relevant policies. Stolk concludes that this Orphan Medicines Model List could ultimately lead to the WHO’s implementation of an extensive Orphan Medicines Programme.

    Bulletin of the World Health Organization ; 84 (9) ; Sept. 2006


    New designations & authorisations in Europe
    Five new orphan designations in August 2006
    In August 2006, the COMP (Committee for Orphan Medicinal Products) agreed on an orphan designation for five medicinal substances for the following indications:

  • Treatment for Amyotrophic lateral sclerosis (Charcot’s disease)
  • Treatment for auto-immune myasthenia
  • Prevention for retinopathy in premature babies born before 32 weeks’ gestation
  • Treatment for familial amyloid polyneuropathy
  • Treatment for meningococcal disease

  • Consult the Register of European orphan designations

    Multiple Myeloma (Kahler’s disease) : the FDA authorises Revlimid
    Revlimid (lenalidomide), marketed in the US for the treatment of a form of Myelodysplastic syndrome to be authorised by the FDA for an additional indication: the treatment of the multiple myeloma combined with dexamethasone in patients having already undergone a first treatment.

    Revlimid acquired orphan medicinal product status in Europe in February 2004, and in 2006 Celgene who develop the drug, registered an authorisation application for European marketing purposes for the treatment of relapsed or refractory multiple myeloma.

    Find out more about “Multiple Myeloma”



    Legal questions
    ESHG report on patenting and licensing of genes & genetic tests
    The European Society for Human Genetics (ESHG) wishes to play an active role in current discussions on patenting and licensing of genes, sequences and genetic tests. Together with the different stakeholders, the ESHG is working towards practical solutions to this complex problem. With this aim in mind, a report is currently being prepared by the ESHG’s Patenting and Licensing Committee. ESHG reports are usually sent to a wide variety of experts prior to their publication, in order to incorporate the views of the Community. The experts the ESHG are particularly looking for are mainly lawyers & geneticists familiar with the genetic testing issue, as well as ethicists.

    If you have a particular view on this issue or if you know of any colleagues willing to comment on the preparatory document, send your views



    Social issues
    International draft Convention for disabled rights is adopted
    According to agreements by UN representatives following nearly five years of negociations culminating in a punishing fortnight of talks, a treaty for the rights of disabled individuals will seek to “promote, protect and ensure the full and equal enjoyment of all human rights and fundamental freedoms of all persons with disabilities, and promote respect for their inherent dignity”.

    Signatory states will agree to adopt laws and regulations to guarantee rights and eradicate discrimination in their respective country when the text is officially adopted this autumn at the forthcoming UN General Assembly.

    Consult the draft Convention



    Berliner Signal: German Congenital Immune Deficiency Self-help Group campaign
    Of the 4 million people living with rare diseases in Germany today, around 100,000 are affected by primary immune deficiency, e.g. antibody-deficiency syndromes. To date, only approximately 700 have been diagnosed.

    This patient-led campaign aims to create awareness in political and public spheres about the reality of living with this type of rare disease, improve cooperation and “education” of medical experts as well as encourage early diagnosis and guarantee adequate treatment, through the implementation of legislative and medical measures in Germany.

    Visit the Berliner Signal website (and support their campaign with your electronic signature).



    Eurordis update
    Eurordis takes a stand against Embryonic Stem Cell research ban
    EURORDIS has issued a position paper giving representing patient views on embryonic stem cell research and therapy following the public hearing on the question of innovative therapies which took place at the European Parliament last May.

    The paper sets out its opposition to the banning of ESC research at the national level, which it claims could create inequity between EU citizens due to availability of in certain Member States only. It argues that this would limit patient access to potentially live-saving treatments contrary to the principle of free choice for individuals and points to the latest Eurobarometer (June 2006) which indicates overall public support for ESC research provided it is strictly regulated.

    Read more ...

    More news from Eurordis ...
    A series of workshops on Centres of Expertise for rare diseases is being set up in over 10 European countries.

    In order to collect the opinions and expectations of patients regarding Centres of Expertise for their disease, Eurordis is planning to organise a series of workshops in Belgium, Czech Republic, Slovakia, Denmark, France, Germany, Italy, Luxembourg, Spain, Sweden, the Netherlands and the UK. The participants will be asked to address the same questions:

    - How does the concept of Centres of Expertise apply to their national healthcare system ?
    - What is the status of cooperation between Centres of Expertise in their country?
    - How do they see these centres cooperating at the EU level ?
    - Strengths and weaknesses of their national healthcare system regarding RD: lessons for other countries, etc.

    The reports from each country will be collected in Spring 2007 to serve as a basis for a European approach to the expert centres networking issue. A workshop will be held on 13-14 July 2007 in Prague to discuss the results and draw up conclusions. An interesting approach to be followed up.



    New Article: Hope for patients with rare diseases
    Kuzelova M, Kubackova K, Palagyi M, Smid M.

    Hope for patients with rare diseases - "orphan" drugs (Review in Slovak)
    Cas Lek Cesk. 2006;145(4):296-300.



    New books
    National-Provincial Atlas of Rare Diseases (1999-2003)
    This 382-page reference study of rare diseases in Spain is edited by the Rare Diseases Epidemiological Research Network, REpIER in collaboration with the University of Barcelona. The network has been working under the RETICS (Thematic Networks of Cooperative Research) 2003-2005 programme launched by the Carlos III Institute for Health in 2002. The book/atlas presents a major source of epidemiological information on rare diseases in Spain, which is considered a disease group in its own right. A similar book on mortality in rare diseases is currently being prepared for publication in the near future.

    More details on Pubmed 2006 May-June;80(3):249-57 Repier; 2006; ISBN: 84-611-2106-6

    Health at a Glance OECD Indicators 2005
    This third edition of Health at a Glance – OECD Indicators 2005 “Health at a Glance – OECD Indicators 2005”, providing an update of comparable data and trends for a variety of aspects of the performance of health systems in OECD countries. This edition expands its set of indicators for health promotion and disease prevention. Includes a user-friendly presentation of indicators. Available in English, French & German, the book includes 172 pages, 64 tables & 117 graphs.

    ISBN: 9264012621

    EU Funding : a Guide for the Public Sector
    This book clarifies the situation of more than 300 EU funds for: local authorities, regional authorities, public services, development agencies & States.

    Also : EU Funding : a Guide for International Cooperation
    More than 250 EU funds for project with ACP & Mediterranean countries, the Balkans, South & North America, Oceania, and Developing countries.
    More book details

    Latest edition of the NORD Resource Guide now available
    This fifth edition of the Resource guide published by the USA’s NORD (National Organization for Rare Disorders) is a 740-book reference book providing descriptions and contact information for 1,348 patient organizations, foundations and registries concerned with rare diseases. The guide, which is designed for use as a public information reference book as well as for families seeking assistance, includes brief entries with a brief description of each organisation and its contact details.


    New reports
    Beyond the permissibility of embryonic and stem cell research
    Beyond the permissibility of embryonic and stem cell research : substantive requirements and procedural safeguards

    This report provides an analysis comparing embryo stem cell legislation and research using cloning, in more than 50 countries.

    Human Reproduction; advance online publication; 27 July 2006

    Sickle-cell anaemia report
    Read report on Sickle-cell anaemia

    WHO Secretariat Geneva, 24 April 2006



    Jobs with EMEA...
    The European Medicines Agency wishes to set up a permanent list of scientific candidates interested in a short-term work opportunity as National Expert on Secondment, to enhance and develop the relationship between European public administrations. These are 12-18 month non-renewable contracts for candidates currently working in the Public Sector (university, research institute, hospital or regulatory body).

    For more details: The EMEA is also announcing 24 traineeship placements as part of its in-service training programme this year. The programme gives trainees an understanding of the Agency and its role within the activities of the EU, enables them to acquire practical knowledge in one of the EMEA’s Units and to obtain professional experience in the course of their work. Each traineeship lasts for a period of five months, beginning in March and October.

    Job details:

    The French National Institute for Health Surveillance is recruiting a doctor
    The French National Institute for Health Surveillance (InVS) is seeking a doctor to take up the post of scientific project manager as part of its actions for the French National Rare Disease plan.

    Job details

    The Medical University, Vienna is offering Postdoctoral & PhD positions, EU-FP6 Project at the Max F. Perutz Laboratories
    The Coordinator of the EURO-Laminopathies EU FP6 project, dealing with the rare lamin-linked diseases based at the Max F. Perutz Laboratories at the Medical University, Vienna is seeking to recruit a postdoctorate and a PhD position to work on this project.

    Job details

    ORPHANET is recruiting...
    Orphanet is seeking an English-speaking Assistant to the “Rare Disease Task Force”. Job details


    In October
    7th EPPOSI Workshop on Partnering for Rare Disease Therapy Development
    This important workshop will bring together representatives from key stakeholder groups: patients, regulators, charities, the academic and clinical community, industry and health care providers to discuss the issues involved in positioning rare diseases on the healthcare agenda.

    Besides the title topic, sessions on enabling the appropriate assessment of new therapies, evaluating the benefit of therapies for patients and their families, facilitating the development of orphan indications of marketed drugs, and ensuring patient access to optimal treatment will be featured.

    Date: 26-27 October, 2006
    Venue: Madrid Spain
    Register now !

    Manchester Stem Cell Meeting
    This meeting aims to provide an overview of the current status of stem cell research and developments, their applications to current and future therapeutic interventions and related issues such as the potential of the UK human tissue bank and the intricacies of GMP manufacture.

    Date: 25 October 2006
    Venue: Geoffrey Manton, Building, Manchester, UK
    More details

    First European Conference of Young People with Lymphoedema: Support-treatment therapies & social adaptation
    This conference and 10th anniversary meeting, organised by ADELPRISE, aims to provide information and to help young people escape isolation.

    Date: 27-29 October 2006
    Venue : Vitoria, Spain
    For more information



    In November
    1st Jerome Lejeune Clinical Conference : Genetic Mental Deficiences: Current Care and Therapeutic Perspectives
    International conference aiming to update information on genetic diseases resulting in mental retardation, emphasizing application of scientific advancement in clinical care.

    Date: 20-21 November 2006
    Venue: Institut Pasteur, Paris, France

    14th Annual Congress of the European Society of Gene Therapy
    International conference on basic and clinical research in gene therapy, cell therapy and genetic vaccines to promote education and the exchange of information and technology. The conference intends to provide professional advice to the community as well as to European regulatory bodies concerned.

    Date: 9-12 November
    Venue: Athens, Greece



    In December
    Symposium on Orphan Drugs in Belgium
    This European symposium aims to evaluate and compare orphan drugs in Belgium with those of France & the Netherlands and is addressed at all those directly concerned, from patients & carers, to researchers, pharmacists, governmental authorities, politicians, etc.

    Date: 7 December 2006
    Venue: Belgium Federal Parliament, Brussels, Belgium
    Programme details in French & Flemish



    In 2007
    2007 International Joint Ethics Conference
    This 18th Canadian Bioethics Society Conference will be held in conjunction with the 3rd International Conference on Clinical Ethics and Consultation, and aims to explore the importance of ethics in health care across different philosophies, disciplines, cultures, and methodologies.

    Date: 30 May - 3 June 2007
    Venue: University of Toronto, Joint Centre for Bioethics, Canada


    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: Kathy Beuzard-Edwards
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Jordi Llinares-Garcia, Annie Olry, Jérôme Parisse-Brassens, Claire Scharf-Kroener, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, John F. Ryan, Domenica Taruscio
    For more information on the Rare Diseases Task Force
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