21 November 2005 print
Task Force Update
Spotlight on...
National Policy News
Research in Action
Orphan Drugs
Patients Associations
Press & Publications
What's on?
Subscribe / Unsubscribe

Creative partnerships - the key to an innovative future for rare disease therapy
One of the key messages to come out of last month’s EPPOSI international workshop on Partnering for Rare Disease Therapy Development, held in London, was that partnership between stakeholders in the field needs to be proactive. Speakers and participants – researchers, clinicians, industry representatives, patients, regulators, and decision-makers – made it clear that to move forward towards the common goal of delivering for patients, more effort needs to be made to understand each others’ needs, experiences, challenges and constraints.

A speaker from the US spoke of patients being 'the glue that holds everything together'. It became clear that understanding the needs of patients and the risks they are willing to take is an important driver for many of those working in the field of rare diseases. The importance of providing a diagnosis, for example - putting a name to a disease even if there is currently no hope of a cure or treatment - can be an enormous step forward for a patient and illustrates the necessity to put as much effort into new diagnostic tests as in developing new orphan therapies. And allowing patients with rare diseases to decide themselves whether or not they are willing to accept a higher degree of risk in the hope of securing a new treatment rather than having the decision made for them by proxy could influence the development – and availability - of more innovative therapies.

Listening to speakers from Europe, the USA, India, Tunisia and Russia, participants at the EPPOSI workshop came away from the meeting convinced that a truly global approach to partnership is also vital. Rare diseases don’t respect borders yet researchers in many countries need support from the rest of the world to enable them to contribute to the improvement of the health of their patients. Twinning research and clinical laboratories, and patients associations between countries to promote cooperation and capacity building would be a welcome step forward here. And while Europe celebrates 5 years of successful orphan drug legislation, it has also much to learn from, and to share with, the US which has over 20 years experience in the field. In an interview with OrphaNews Europe (see below), Marlene Haffner of the FDA, a speaker at the workshop, shares her thoughts on the US experience and what can be learned from it.

Above all, many of the experiences reported at the EPPOSI workshop showed that creativity will be the key to ensuring the development of, and access to innovative orphan therapies: creativity to overcome regulatory conservatism, creativity in clinical trial design, in developing research results into products, in working across borders. Without forgetting that whilst patients’ needs often provide the glue necessary for partners to work together, they also provide the human face fronting many of the issues.

A full report of the EPPOSI workshop will be published in due course.

Deadline for submissions

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

The next edition will appear in mid-December.
Deadline for the next edition is
12 December 2005.

OrphaNews Europe is recruiting!
The position of editor of OrphaNews Europe and assistant to the Rare Diseases Task Force is vacant.

For further details, please read the job description.


Task Force Update
Fourth meeting of the RDTF
The fourth meeting of the Rare Diseases Task Force will take place in Luxembourg on 14 December 2005.

Members of the Task Force will discuss the future work programmes of the three working groups - on standards of healthcare, on public health indicators and on coding and classification for rare diseases - and on future funding opportunities for European rare disease research.

Meeting agenda

Working groups
Public health indicators expert group gets to work
The second RDTF working group, dedicated to Public Health Indicators for rare diseases, will meet for the first time on 30 January 2006, in Paris. This working group of European experts is being led by Juliette Bloch of the French national institute for public health surveillance (InVS). Members of the group will discuss the selection of rare diseases with high priority for epidemiological surveillance. The group will also determine the definition of rare diseases which can be identified in mortality certificates and develop a European-level feasibility study for using mortality data as public heath indicators.

Spotlight on...
...the US Orphan Drug Act
The US Orphan Drug Act (ODA) was passed in 1983 with the aim of stimulating the development of drugs for rare diseases, defined as those affecting fewer than 200,000 people in the United States. The law provides 7-year marketing exclusivity to sponsors of approved orphan products and a tax credit of 50 percent of the cost of conducting human clinical testing. Exclusive marketing rights begin on the date that the marketing application is approved by FDA for the designated orphan drug, and applies only to the indication for which the drug has been designated and approved. Other companies must prove clinical superiority before they are allowed to market another version of the same drug. Since 1997, companies developing orphan products also benefit from an exemption from the usual user fees charged by the Food and Drug Administration (FDA). Applications for orphan drug designation are handled by the Office for Orphan Product Development (OOPD), part of the FDA.

The OOPD also provides research grants for phase 1, 2, or 3 clinical testing of new therapies to treat orphan diseases prior to approval. In financial year 2006, over 14 million dollars will be made available for this programme. So far 39 orphan products have been granted marketing approval following funding of clinical studies through the scheme.

The US ODA in figures:

Since 1983:

  • 2175 applications for orphan drug designation have been received by the OOPD
  • 1024 orphan products have been give orphan drug designation
  • 272 orphan products have been given marketing authorisation
  • 224 products were withdrawn by sponsors before marketing authorisation was granted

  • Transatlantic cooperation

    Since the beginning of this year, companies wishing to apply for orphan designation in both Europe and the USA have the possibility of applying for parallel scientific advice from the European Medicines Agency (EMEA) and the FDA through a pilot programme initiated as part of a confidentiality agreement between the two agencies. The goal of this pilot is to provide a mechanism for EMEA and FDA assessors and sponsors to exchange their views on scientific issues during the development phase of new medicinal products with the expected advantage of increased dialogue between the two agencies and sponsors from the beginning of the lifecycle of a new product, a deeper understanding of the basis of scientific advice, and the opportunity to optimise product development and avoid unnecessary replication of testing or unnecessary diversity of testing methodologies.

    The confidentiality arrangement between the two agencies has been extended for five more years, following the positive experience gained since the initial arrangements were signed in September 2003. As well as covering parallel scientific advice, the confidentiality arrangements allow the agencies to exchange other types of information as part of their regulatory processes, including legal and regulatory issues, scientific advice, orphan drug designation, inspection reports, marketing authorisation procedures, and post-marketing surveillance. An exchange programme for staff of both agencies is also envisaged as part of the arrangement, with the aim of installing a culture of increased staff awareness.

    ...with Marlene E Haffner, Director of the FDA's Office for Orphan Products Development
    Marlene E Haffner, MD, MPH, has been director of the Office of Orphan Products Development (OOPD) at the U.S. Food and Drug Administration (FDA) since 1987, a responsibility she finds exciting, challenging and worthwhile. 'The work that I and my staff do everyday has a significant positive impact on the lives of people in the US and beyond', says Dr Haffner.

    OrphaNews Europe asked her about the main lessons learnt from over 20 years of orphan drug legislation in the USA and the challenges still remaining:

    OrphaNews Europe: Looking back over the last 22 years since the US Orphan Drug Act came into effect, what are the main learning points that you have taken on board from this experience?

    MH: I guess the first thing that has been learned from the US Orphan Drug Act is that - IT WORKS! I have no idea what success the initial crafters of the programme envisioned, but to have 272 products serving 14 million in the US is a fantastic achievement. And as further testament to the success of the programme in the US, it has been adopted or imitated in Japan, Australia, the EU and beyond. But beyond the fact that the programme works, some of the other lessons learned include:

    - Most orphan diseases are serious/life threatening diseases. Most are chronic. They are not treated within a week - 10 days worth of drugs and are forever better. This means that if a drug is given chronically, the sponsor has a greater chance to make a profit in time.

    - Many (about 50%) of orphan diseases occur in children - our most vulnerable population.

    - A large percentage of rare diseases are of genetic origin, 'personalised' pharmacogenetic drug development will find fertile ground in the study and treatment of rare diseases.

    Read the full interview with Marlene Haffner


    National & International Policy Developments
    Policy developments in EU member states
    10.5 million euros for German gene therapy programme
    The German Research Foundation (DFG), the central research organisation promoting research at universities and other publicly financed research institutions in Germany, is to support a Priority Programme in gene therapy from the beginning of 2006.

    The programme entitled 'Mechanisms of gene vector entry and persistence' will attempt to systematically investigate and improve the foundations of somatic gene therapy using state of the art methods. Gene vectors can deliver genes into cells undamaged and in a targeted way, making them an attractive tool for the treatment of hereditary diseases. Their benefits are undisputed, but their potential undesirable side effects remain largely unexplored. This international project, which is deliberately open-ended with regard to its findings, will focus on problems such as dosage, persistence and integration of gene vectors. It may also help to consolidate Germany's role as a location for gene therapy research. The DFG is contributing 10.5 million euros to the programme which will initially run for three years but may be continued for a further three years.

    For further details contact the programme coordinator, Pr. Dr Christopher Baum, at the Paediatric Department of Haematology and Oncology of Hannover Medical School.

    New Irish Disability Act regulates genetic testing
    In June 2005, Ireland's new Disability Act passed into law. The new Act provides a statute-based right for people with disabilities to an assessment of disability-related health, personal social service and educational needs.

    The new Act notably includes a section on genetic testing, requiring that consent of the person being tested is obtained before processing of any genetic data derived from the test and prohibiting the processing of genetic data in relation to employment of a person (except in certain circumstances), or the taking out of life insurance, health insurance or general insurance policies. In addition, the processing of genetic data is prohibited unless 'all reasonable steps have been taken to provide the data subject with all appropriate information concerning the purpose and possible outcomes of the proposed processing, and any potential implications for the health of the data subject which may become known as a result of the processing'. The law relating to genetic testing will come into effect on 31 December 2005.

    35 new rare disease projects funded in France
    The French Institute for Rare Diseases (GIS-Institut des Maladies Rares) has announced the results of its latest call for projects in rare disease research. 35 new research projects, targeting a wide range of rare diseases, will be jointly financed by the French National Research Agency (ANR) and the French Association for Muscular Dystrophy (AFM). The successful projects including both basic and applied research projects, were chosen out of a total of 160 proposals, after evaluation by the joint scientific committee of the Institute and the ANR, along with other external experts. The 35 projects will share a global budget of just over 11 million euros over a period of two to three years.

    The Institute’s call for projects in rare diseases is one of the priority initiatives outlined in the French National Plan for Rare Diseases, launched in November 2004, to boost and support rare diseases research in France. Further calls for proposals are planned for next year.

    Spanish version of French National Rare Disease Plan now available
    The French National Plan for Rare Diseases, launched in November 2004 by the French Ministries of Health and of Research, has now been translated into Spanish. French, English, German and Italian versions are also available and can be accessed on the RDTF website. Please distribute the translated version of the Plan in your own language to your country's public health decision-makers and any other interested parties.
    Success for Spain's first national meeting on rare diseases
    The first Spanish national meeting on rare diseases took place in Madrid on 11-12 November 2005. It was organised jointly by FEDER, the Spanish federation of rare diseases, with IMSERSO, the state social services secretariat. The meeting was opened by Mrs Amparo Valcarce Garcia, state secretary to social affairs. She expressed the interest of the government in improving the quality of life of patients. Mr Moisés Abascal Alonso, president of FEDER, responded by suggesting that Spain adopt an action plan for rare diseases as France did last year. Well attended by patients organisations and professionals, the meeting provided a forum to discuss the various models of organisation in favour of patients with rare diseases developed in Denmark, France, Italy, Sweden and Spain. The overall quality of the organisation and of the presentations demonstrated the capacity of FEDER to gather all the Spanish stakeholders and to mobilise key players in Europe.
    UK: Inequity for childhood orphan lung diseases?
    In an article in the November issue of Thorax, Dr Alex Jaffé argues that despite recent initiatives, the UK is failing to address the inequities in healthcare provision for children with rare lung disease. He reviews a number of successful initiatives and incentives for rare diseases in Europe, and beyond and concludes that in the UK there is an urgent need for a unified approach at a national level to address inequity and provide solutions for rare disease patients.
    Thorax ; 60(11):892-4 ; November 2005
    International policy
    UNESCO adopts Universal Declaration on Bioethics and Human Rights
    At its 33rd Session on 19 October 2005, the General Conference of UNESCO adopted the Universal Declaration on Bioethics and Human Rights.

    The Declaration was drafted in response to the growing need to develop universally applicable ethical guidelines within a context of the cultural pluralism inherent in bioethics, particularly with the rise in international collaboration in scientific activities. It aims to establish the conformity of bioethics with international human rights law. The Declaration focuses strongly on the issue of informed consent and on equitable access to medical, scientific and technological developments.

    UNESCO’s member states will not be bound by the Declaration. Instead it provides principles that may serve as contours for legislation, regulation, and policy decisions within the Member States but each country’s lawmakers are left to decide between different positions, guided by the principles expressed in the Declaration. It invites Member States to take appropriate measures, to encourage the establishment of ethics or bioethics committees, and to create processes for risk assessment.

    Member States will, however, be required to provide reports every five years to the Director-General of UNESCO with the aim of disseminating information on the implementation of the principles contained in the Declaration: in terms of legislation, regulation, and jurisprudence, as well as in the decisions of national ethics or bioethics committees and other ethics or similar commissions. The Declaration will be examined after five years in the light of scientific and technological development and will, if necessary, be revised in accordance with UNESCO’s statutory procedures.

    Other international news
    FDA approves neural stem cell transplant trial for Batten disease
    The US Food and Drug Administration has approved the first transplant of foetal stem cells to cure Batten disease (or infantile and late-infantile neuronal ceroid lipofuscinosis) a group of rare, fatal genetic disorders that affect the central nervous system of children.

    The Phase I trial will be conducted by Stem Cells Inc., a company based in California. Affected children will receive injections of human neural stem cells into their brains with the hope that these cells will spread throughout the brain and produce both of the lysosomal enzymes missing in the subtypes of Batten disease being studied in the clinical trial. Children enrolled in the study will be evaluated with standardised measures of development, cognition, behaviour and language for one year following transplantation. Trial patients will also be asked to commit to a four-year follow-up study.

    This is the first-ever FDA-approved clinical trial to use a purified composition of human neural stem cells as a potential therapeutic agent in humans. Stem Cells Inc. must now seek Institutional Review Board approval from the medical institutions where the trials will take place, including the Stanford University School of Medicine.

    To read more about "Ceroid lipofuscinosis, neuronal"


    Research in Action
    EU project focus
    Geneskin: advancing diagnosis, management and awareness of rare skin diseases
    Nearly 300 different diseases and syndromes affecting the skin are known to be of genetic origin. The Geneskin project, launched in July 2005 and funded for three years under the European Commission’s Sixth Framework Programme (contract LSHM-CT-2005-512117) with over 1.2 million euros, was set up to coordinate and structure the dispersed expert knowledge linked to rare genetic skin diseases that currently exists across Europe by building a European Consortium of multidisciplinary experts in clinical and molecular diagnosis, management and innovative therapy...

    ...Read more about Geneskin

    New diseases & syndromes
    New diseases and syndromes on PubMed in October and November 2005
    Bilateral acute depigmentation of the iris
    Graefes Arch Clin Exp Ophthalmol. ; 1-5 ; October 2005
    Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
    Nature Genetics ; 37(10):1035-7 ; October 2005
    Association of palmoplantar keratoderma, cutaneous squamous cell carcinoma, dental anomalies, and hypogenitalism in four siblings with 46,XX karyotype: a new syndrome
    J Am Acad Dermatol. ; 53(5 Suppl 1):S234-9 ; November 2005
    New genes
    New rare disease genes published on PubMed in October and November 2005
    Mutations in dynamin 2 cause dominant centronuclear myopathy
    Nature Genetics ; 37(11):1207-9 ; November 2005
    Mutations in SEPT9 cause hereditary neuralgic amyotrophy
    To read more about "Parsonage-Turner syndrome"

    Nature Genetics ; 37(10):1044-6 ; October 2005
    Sequence variants in SLITRK1 are associated with Tourette's syndrome
    To read more about "Tourette syndrome"

    Science ; 310(5746):317-20 ; 14 October 2005
    Severe expressive-language delay related to duplication of the Williams-Beuren locus
    N Engl J Med ; 353(16):1694-701 ; 20 October 2005
    Stiff child syndrome with mutation of DYT1 gene
    To read more about "Stiff-man syndrome"

    Neurology ; 65(9) : 1465-1466 ; November 2005
    Congenital glutamine deficiency with glutamine synthetase mutations
    N Engl J Med ; 353(18):1926-33 ; 3 November 2005
    New clinical research
    New clinical trials on Orphanet
    Study of environmental, lifestyle, medical, family history, and genetic risk factors involved in amyotrophic lateral sclerosis in a homogeneous population (Quebec) and a diverse population (France)

    An international multi-centre trial

    Molecular epidemiology of Usher Syndrome in France

    An international multi-centre trial

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

    New clinical research published on PubMed in October and November 2005
    Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
    To read more about "Progeria"

    Proc Natl Acad Sci U S A ; 102(36):12879-84 ; 6 September 2005
    Humanized anti-interleukin-6 receptor antibody treatment of multicentric Castleman disease
    To read more about "Castleman disease"

    Blood ; 106(8):2627-32 ; 15 October 2005
    Response criteria for myelofibrosis with myeloid metaplasia: results of an initiative of the European Myelofibrosis Network (EUMNET
    To read more about "Myelofibrosis with myeloid metaplasia"

    Blood ; 106(8):2849-53 ; 15 October 2005
    New therapeutic & diagnostic approaches
    New therapeutic & diagnostic approaches published on PubMed in October and November 2005
    Aminoglycoside suppression of nonsense mutations in severe hemophilia
    To read more about "Hemophilia"

    Blood ; 106(9):3043-8 ; 1 November 2005
    Stable transmission of targeted gene modification using single-stranded oligonucleotides with flanking LNAs
    To read more about "Retinitis pigmentosa"

    Nucleic Acids Res ; 33(12):3733-42 ; 7July 2005
    Normal growth and regenerating ability of myoblasts from unaffected muscles of facioscapulohumeral muscular dystrophy patients
    To read more about "Facioscapulohumeral muscular dystrophy"

    Gene Ther. ; 12(22):1651-62 ; November 2005
    Caudate volumes in childhood predict symptom severity in adults with Tourette syndrome
    To read more about "Tourette syndrome"

    Neurology ; 65(8):1253-8 ; 25 October 2005
    Natural variation in toxicity of wheat: potential for selection of nontoxic varieties for celiac disease patients
    To read more about "Celiac disease"

    Gastroenterology ; 129(3):797-806 ; September 2005
    Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha
    To read more about "Erdheim-Chester disease"

    Blood ; 106(9):2992-4 ; 1 November 2005
    Left ventricular synchronization by biventricular pacing in Becker muscular dystrophy as assessed by tissue Doppler imaging
    To read more about "Muscular dystrophy, Duchenne and Becker types"

    Heart Lung. ; 34(5):317-20 ; Sep-October 2005
    Genetic testing
    Public consultation on bloodspot use and storage
    The University of London's Institute of Education has launched a public consultation to gather information on the public's attitudes to the storage and use of newborn babies' blood spot cards. The blood spots, taken from babies within the first week of life, and stored on cards are used to screen for rare but serious disorders such as phenylketonuria, a metabolic disorder. The consultation aims to gauge public attitudes to the various uses of stored blood spot cards and how the UK newborn blood spot bank is managed to serve the interests of the public and keep personal information private.

    The consultation process involves a web-based consultation and interviews and focus groups with members of the public running through Autumn 2005 and a working group made up of members of the public which will meet in Spring 2006. The group will help draft a report of the public's views on the uses and management of the UK newborn blood spot card bank which will be considered by the consultation's advisory group. This advisory group will then make recommendations to researchers, policy-makers and practitioners about what the UK newborn blood spot bank should be used for and how it should be managed.

    The web-based consultation can be downloaded here and replies will be accepted until 6 January 2006.


    Orphan Drugs
    New designations & authorisations in Europe
    COMP orphan drug designations in October and November 2005
    At its meetings on 19 October and 9/10 November 2005, the EMEA's Committee for Orphan Medicinal Products (COMP) adopted 11 positive opinions on orphan designation for medicinal products for the following indications:

  • Human Staphylococcus aureus polyclonal immunoglobulin and human Staphylococcus epidermidis polyclonal immunoglobulin for the prevention of late onset sepsis in premature infants of less or equal than 32 weeks gestational age
  • 1,2-bis(methylsulphonyl)-1-(2-chloroethyl)-2-[(methylamino)carbonyl]hydrazine for the treatment of acute myeloid leukaemia
  • Human immunoglobulin G1 constant region - human ectodysplasin-A1 receptor-binding domain fusion protein for the treatment of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome)
  • Eptacog alfa (activated) for the treatment of diffuse alveolar haemorrhage
  • Brostallicin for the treatment of soft tissue sarcoma
  • Dasatinib for the treatment of acute lymphoblastic leukaemia and chronic myeloid leukaemia
  • Denufosol tetrasodium and Heparin sodium (inhalation use)for the treatment of cystic fibrosis
  • Enzastaurin for the treatment of glioma
  • Imatinib mesilate for the treatment of myelodysplastic/myeloproliferative diseases
  • Imexon for the treatment of ovarian cancer

  • EMEA COMP opinions in October 2005

    EMEA COMP opinions in November 2005

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

    New designations & authorisations in USA
    FDA orphan drug decisions in October and November 2005
    In October and November, the FDA's Office of Orphan Products Development granted orphan drug designation for medicinal products for the following indications:

  • Interleukin 21 (IL-21) for the treatment of melanoma patients with advanced or aggressive disease
  • Brivaracetam for the treatment of symptomatic myoclonus
  • ZD6474 for the treatment of follicular, medullary, anaplastic, and locally advanced and metastatic papillary thyroid cancer
  • lucinactant for the treatment of bronchopulmonary dysplasia in premature infants
  • .

    In addition, the agency has granted marketing authorisation in the United States for a new drug to treat adults and children with T-cell acute lymphoblastic leukemia (T-ALL) and T-cell lymphoblastic lymphoma (T-LBL). Arranon (nelarabine) will be used to treat patients whose disease has not responded to or has relapsed following at least two chemotherapy regimens. Arranon is the first drug to treat this limited population of patients.

    Arranon was approved under the FDA's accelerated approval programme, which allows the FDA to approve products for cancer and other serious or life-threatening diseases based on early evidence of a product's effectiveness, and it has also received orphan drug designation.

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

    Orphan drugs and the NHS: should we value rarity?
    In this BMJ article the authors argue that the cost effectiveness of orphan drugs should be treated in the same way as for other healthcare technologies in the context of the UK's National Health Service.
    BMJ ; 331:1016-1019 ; 29 October 2005
    Commissioning for rare diseases: view from the frontline
    A second article in the BMJ describes how a national decision in the UK to provide therapies for a group of rare disorders prevented local funding for other vital services in the West Midlands region of the country.
    BMJ ; 331:1019-1021 ; 29 October 2005

    News from the Patients Associations
    Eurordis update
    Highlights from the Eurordis newsletter
    In the November issue of the Eurordis newsletter, Fide Mirón, a young Spanish woman suffering from Günther’s disease, tells a moving story of her will to live and her battle for recognition.
    Eurordis position on NGO transparency
    Eurordis has recently published its position on the legitimacy and transparency of non governmental organisations (NGOs) calling for a better distinction between lobbying activities by stakeholders with a financial interest, and advocacy activities by groups of individuals or associations voicing citizens’ needs and views on critical issues such as health and human rights.

    Press & Publications
    Two new journals on clinical trials to launch in 2006
    In a context where both clinicians and regulators are becoming more open-minded in their attitudes to alternative clinical trials methodology for the small populations represented by rare disease patients, the launch of two new journals devoted to clinical trials is a welcome development.

    BioMed Central is to launch its journal Trials in January 2006. The new journal will be an open access, peer-reviewed, online-only journal which aims, according to its publishers, to experiment with, and then refine, innovative approaches to improving communication between trialists. It will consider manuscripts on any aspect of the design, performance, and findings of randomised controlled trials in any discipline related to health care, and will also encourage the publication of protocols, as well as commentaries and critiques on any aspect of a published trial”.

    The Public Library of Science (PloS) will launch an international, peer-reviewed, open-access journal entitled PloS Clinical Trials in March 2006.

    PloS Clinical Trials aims to broaden the scope of clinical trials reporting by publishing the results of randomised trials in humans from all medical and public health disciplines. Trials may investigate aspects of treatment or prevention, including drug or non-drug interventions. Non-drug studies may include (but not necessarily be restricted to) investigations of devices, surgical therapies, health service delivery, behavioural, lifestyle, psychological or educational interventions. Publication decisions will not be affected by the direction of results, size or perceived importance of the trial.

    Submissions to both new journals are already being accepted.

    New books
    Non-Viral Gene Therapy: Gene Design and Delivery
    Authors: T. Kazunari, K. Kazunori, N. Takuro
    Published by Springer-Verlag; 30 November 2005

    Cardiovascular Development and Congenital Malformations: Molecular and Genetic Mechanisms
    Authors: M. Artman, D. Woodrow Benson, D. Srivastava, M. Nakazawa
    Published by Blckwell/Futura; 2005

    Genetics of Developmental Disabilities
    Authors: M. Butler, J. Meaney
    Published by Marcel Dekker Ltd; 2005

    Adult Congenital Heart Disease: A Practical Guide
    Authors: M. A. Gatzoulis, L. Swan, J. Therrien, G. A. Pantely
    Published by BMJ Publishing Group; 2005

    New reports
    Genomics and Population Health 2005
    The Centers for Disease Control and Prevention (CDC) of the US Office of Genomics and Disease Prevention has published its second report on genomics and population health.

    Two chapters of the 2005 edition are of particular interest for rare diseases: Chapter 7 discusses recommendations for adding cystic fibrosis to the newborn screening panel in state public health programmes while Chapter 8 focuses on GeneTests, a publicly-funded information resource on genetic testing and its use in clinical practice which aims to enhance availability, access and quality of genetic testing for rare diseases.


    What's on where?
    In December
    Telethons across Europe
    Telethons are annual fund-raising events linked to marathon television shows which aim to raise both money for and the profile of rare and genetic diseases. Four European countries will be holding Telethons in December.

    2-3 December, 2005: Telethon Belgium; Telethon France; Telethon Switzerland

    16,17 and 18 December, 2005: Telethon Italy

    European Patients Conference on Stem Cells
    A European conference organised by the European Federation of Neurological Associations focussing on what patients think about stem cell research and therapy.The Conference will be conducted as an open and interactive forum. 75% of the audience will be patients from Europe, whose conditions could be improved, or are already being improved, by stem cell therapies and treatments

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

    In 2006
    Genomics and Public Health
    An international conference to explore the potential of genomics to improve the health of populations, its impact on society and the implications for specialists in public health and genetics.

    Date: 26 January 2006
    Venue: London, UK

    A one day symposium on intersex conditions

    Date: 1 May, 2006
    Venue: Istanbul, Turkey

    38th European Human Genetics Conference
    This conference will cover the latest developments in the fields of human genetics and genomics that are of interest to both clinicians and research scientists.

    Date: May 6-9, 2006
    Venue: Amsterdam, The Netherlands

    11th International Congress of Human Genetics
    The foremost meeting of the world human genetics community.

    Date: 6-10 August, 2006
    Venue: Brisbane, Australia


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