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It’s official - the EU Committee of Experts on Rare Diseases is established - the call for expressions of interest now open

The European Commission decision of 30 November 2009, published in the Official Journal of the European Union, formally establishes a European Union Committee of Experts on Rare Diseases. This new structure, evoked in Point 7 of the Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe’s Challenges, adopted on 11 November 2008, recommends that the European Commission be assisted by a European Union Advisory Committee on Rare Diseases:

"The preparation and implementation of Community activities in the field of rare diseases require close cooperation with the specialised bodies in Member States and with the interested parties. Therefore, a framework is required for the purpose of regular consultations with those bodies, with the managers of projects supported by the European Commission in the fields of research and public health action and with other relevant stakeholders acting in the field."

Thus, “the Committee acting in the public interest shall assist the Commission in formulating and implementing the Community’s activities in the field of rare diseases, and shall foster exchanges of relevant experience, policies and practices between the Member States and the various parties involved”.

Specifically, the European Union Committee of Experts on Rare Diseases is charged with the following responsibilities:

  • assist the Commission in the monitoring, evaluating and disseminating the results of measures taken at Community and national level in the field of rare diseases;
  • contribute to the implementation of Community actions in the field, in particular by analysing the results and suggesting improvements to the measures taken;
  • contribute to the preparation of Commission reports on the implementation of the Commission Communication and the Council Recommendation;
  • deliver opinions, recommendations or submit reports to the Commission either at the latter’s request or on its own initiative;
  • assist the Commission in international cooperation on matters relating to rare diseases;
  • assist the Commission in drawing up guidelines, recommendations and any other action defined in the Commission Communication and in the Council Recommendation;
  • provide an annual report of its activities to the Commission.

  • The new Committee will consist of 51 members, including one representative coming from the ministries or government agencies responsible for rare diseases to be designated by the government of each Member State; four patient organisation representatives; four pharmaceutical industry representatives; nine representatives of ongoing and/or past Community projects in the field of rare diseases financed by the programmes of Community action in the field of health, including three members of the pilot European Reference Networks on rare diseases; six representatives of ongoing and/or past rare diseases projects financed by the Community Framework Programmes for Research and Technological Development; and one representative of the European Centre for Disease Prevention and Control. The Committee will elect a chairperson and three vice-chairpersons, with a one-year term of office, from different categories of members of the Committee. The new Committee may establish temporary Working Groups consisting of external experts for specific missions.

    A call for expressions of interest has been published for the patient organisation, industry, rare diseases research projects under Framework Programmes for Research and Technological Development , and rare diseases projects under Health Programmes representatives of the new Committee. The deadline for submitting an expression of interest for any of these representative roles is 21 December 2009. The calls for expression of interest can also be consulted in the Official Journal of the European Union and on the Commission website (in the What’s New column located on the right side of the page).

    The European Union Committee of Experts on Rare Diseases replaces the European Commission’s Rare Diseases Task Force (RDTF) established via Commission Decision 2004/192/EC of 25 February 2004 on the programme of Community action in the field of public health (2003 to 2008). For a summary of the activities and accomplishments of the RDTF over the past six years, consult the spotlight article appearing in this newsletter.

    Spotlight on...
    The end of an era...
    For 6 years, the Rare Disease Task Force played a pivotal role instigating key collaborative rare disease initiatives in Europe

    The European Commission Public Health Directorate established the Rare Diseases Task Force (RDTF) from January 2004. According to the RDTF mandate, the overarching aims of the task force were to: advise and assist the European Commission Public Health Directorate in promoting the optimal prevention, diagnosis and treatment of rare diseases in Europe, in recognition of the unique added value to be gained for rare diseases through European co-ordination; and provide a forum for discussion and exchange of views and experience on all issues related to rare diseases.

    From the beginning, the RDTF was chaired by Orphanet director and medical geneticist Dr Ségolène Aymé, and with a bevy of European stakeholders as members - including current and former rare disease research project leaders, elected experts from Member States, and representatives from relevant international organisations (DG Research, DG Enterprise, EuroStat, EMEA, WHO, OECD) - the task force was well-equipped to meet its numerous goals and challenges over the years.

    The scientific activity of the RDTF was funded from 2005, particularly the publication of OrphaNews Europe, the official newsletter of the Rare Diseases Task Force. Published every two weeks, this newsletter has served as a vital communication tool, bringing news on policy developments, medical and scientific findings, orphan drugs, research projects, patient activities, events and new relevant publications to the global rare disease community – including patients, healthcare professionals, researchers, industry professionals and health policy makers.

    To fulfil the specific objectives of the RDTF, several working groups were identified and constituted. The Standards of Care working group was divided into two sub-working groups, one on European Networks of Centres of Reference and another on Orphan Drugs, established to contribute knowledge concerning expectations in the field in coming years. The Orphan Drugs sub-WG included RDTF representatives, as well as representatives from the European Commission, the European Medicines Agency, Orphanet, and industry professionals with market authorised orphan drug products in Europe. Their deliberations resulted in the publication of How Many Drugs for How Many Patients? Recommendations of the Rare Diseases Task Force (July 2007). The European Networks of Centres of Reference sub-WG took stock of the Centres of Expertise and European Reference Networks in the field of rare diseases. Its work fed into a more general reflection on these structures that was undertaken by the EC’s High Level Group on Health Services and Medical Care. Three key works were produced by this group: Overview of current Centres of Reference on rare diseases in the EU (2005); Centres of Reference for rare diseases in Europe: State-of-the-art in 2006 and Recommendations of the Rare Diseases Task Force (2007); and Assessing the added-value of European Reference Networks in the Field of Rare Diseases (2008). The group also contributed its expertise to topics relating to genetic testing, genetic screening, and orphan drugs.

    Meanwhile, the Public Health Indicators working group set out to explore rare disease-specific health indicators and identify existing documentable indicators relevant to rare diseases. One goal of the group was to determine rare diseases with high priority for epidemiological surveillance. This group also created a feasibility study using mortality data as public heath indicators. Publications from the working group include Health Indicators for Rare Diseases (published 2008); and Patient Registries and Databases in the Field of Rare Diseases: Technical, Legal and Ethical Issues (published 2008).

    The Coding, Classification and Data Confidentiality working group collaborated with the World Health Organization (WHO), and more recently with Orphanet, which has been commissioned to contribute its rare disease expertise to the revision of the WHO’s International Classification of Diseases (ICD). This immense project is expected to render rare diseases more visible in the WHO classification system (Learn more).

    All of the recommendations, reports and scoping papers produced by the Working Groups of the RDTF are available online.

    With two meetings per year, the RDTF as a whole met 12 times over the course of its mandate. During these busy and fruitful meetings, many key topics were brought forward and discussed in relation to rare disease research, policy and actions. Each meeting brought together RDTF members, representatives from the Directorate Generals of the European Commission, members of the European Medicines Agency, and various observers. The three RDTF working groups also met regularly for workshops geared specifically to propel their various initiatives.

    Perhaps the most notable contribution of the RDTF was its pivotal role between June and October 2007 in drafting the Communication Rare Diseases: Europe’s Challenges, in close collaboration with the European Commission. The process, which utimately culminated in the adoption of the European Council Recommendation on an Action in the Field of Rare Diseases in June of this year, has proven itself to be well worth the effort. The RDTF, through vigorous campaigning at the national and European levels, played an important role in convincing Member States to include rare diseases in their health policy agendas, and national strategies are starting to unfurl in more and more Member States across Europe, while collaboration and coordination increase in the fields of research, drug development, and patient care. This process is supported by the Europlan project, which has been designed to help Member States define their rare disease strategies.

    The RDTF was officially replaced on 30 November 2009 under the European Commission Communication Rare Diseases: Europe’s Challenges, which stipulates that “The Commission should be assisted by an EU Advisory Committee on Rare Diseases to advise on implementation of this Communication”. While this new Committee, named the European Committee of Experts on Rare Diseases, effectively replaces the present structure of the RDTF, many of the existing experts are expected to carry over into the new organisation. As a legal entity, the new Committee carries more clout, and is able to make recommendations to the EU Member States (concerning national rare disease plans, for example), as well as to the EU Parliament, the European Medicines Agency, the Committee for Orphan Medicinal Products and the United Nations. It is hoped that the new Committee will be as proactive, efficient, dedicated and enterprising as the RDTF has been.


    National & International Policy Developments
    Netherlands invests €22.5 million in national biobank infrastructure
    The Netherlands Organisation for Scientific Research has bequeathed via the Dutch Ministry of Education €22.5 million to a consortium including eight Dutch university medical centres and other research institutes and universities, in order to establish a national biobanking infrastructure. The Biobanking and Biomolecular Resources Research Infrastructure Netherlands (BBMRI-NL) will integrate clinical materials and data gathered over many years with the goal of improving access to human samples. Such samples are especially critical to rare disease and orphan medicinal product research, which suffers from small and scattered sample pools.

    In a press release appearing on the Leiden University website, Gertjan van Ommen, Professor of Human Genetics at the Leiden University Medical Center, qualified the subsidy as “an enormous impetus for epidemiological and biomedical research.” The consortium seeks to harmonise the procedures by which data are described and stored, render the information and materials more accessible for future biomedical research, and make improvements via “modern, large-scale research methods, including DNA research”. Guidelines for the protection of privacy are also to be harmonised. In an independent news article, the initiative was defined as “part of a wider … network that will eventually link European biobanks and related information resources to connect researchers across the continent”. Indeed, in February 2008, the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI) was launched in order to create a broadly accessible pan-European network of existing and de novo biobanks and biomolecular resources for global biomedical research. It is estimated that there are over one hundred biobanks sprinkled throughout Europe. Many experts are hoping that other Member States will follow the lead the Netherlands is setting and develop a national structure.

    New study reveals conflict between EU regulations encouraging orphan drug development and health technology assessment policies
    The London-based Office of Health Economics (OHE) provides independent research, advisory and consultancy services on policy implications and economic issues within the pharmaceutical, health care and biotechnology sectors. As part of a study sponsored by a research grant from the United Kingdom-based Orphan Diseases Industry Group, a new report has been compiled by the OHE that compares the pricing and reimbursement schemes and specific orphan drug policies of France, Germany, Italy, the Netherlands, Spain, Sweden and the UK. Via a review of existing literature, consultation with national experts and an examination of data on the coverage decisions taken concerning the first 43 orphan medicinal products (OMP) that the European Medicines Agency authorised following the adoption of EU Regulation EC 141/2000 on orphan medicinal products, certain conclusions were able to be drawn. The report finds that “Criteria informing coverage decisions vary substantially across countries. However, the most recurrent factors deemed important when making decisions on OMPs were the severity of the illness and the lack of an adequate alternative treatment.”

    Decision-makers from the different countries share concerns over the “limited evidence base available for OMPs at the time of their evaluation and the high cost per patient associated with OMPs”. Encouragingly, the study showed that in almost all of the countries, the “large majority (or all) of the EMEA-designated OMPs were considered eligible for reimbursement or prescribed within the National Health System”. However, in the countries that employ a formal health technology assessment (HTA), “OMP deliberations were varied. Within the UK, a large proportion of the Scottish HTA body’s decisions were either rejections (46%) or involved some restricted use (11%)”.

    Other country-specific findings from the report include the observation that “Sweden is the country with the highest rate of rejection where almost 30% of the OMPs launched in the country were not reimbursed. Specific policies for the implementation of postlaunch studies for OMPs were identified in all countries but Germany. However, Italy and the Netherlands were particularly active in adopting innovative schemes to allow early access and evidence generation in real-world settings”.

    The study reveals the conflict between regulations geared toward accelerating orphan medicinal products to the marketplace and Health Technology Assessment policies that can effectively hinder access to such products. The report concludes with certain recommendations: more cooperation and networking at the European and international level are required in order to develop more reliable evidence after marketing authorisation. It is crucial that all key stakeholders, including clinicians, are involved in the development of Europe-wide registries and processes for data collection around treatment pathways. To address the potential conflicts between data requirements for licensing and for reimbursement purposes, an early engagement between licensing bodies, HTA bodies and companies should be facilitated in order to identify the potential evidence issues and to explore possible ways forward. In many cases there is no “second chance” to conduct an additional clinical study if the available data prove inadequate due to the limited number of patients and ethical considerations of further randomisation. It might be appropriate to develop common guidelines for setting an “acceptable minimum dataset” for licensing and reimbursement to be considered as a benchmark by developers/manufacturers and decision-makers at the European level. Access Mechanisms for Orphan Drugs: A Comparative Study of Selected EU Countries can be consulted and/or downloaded via the OHE website

    Other European news
    Spain’s Biomedical Network Research Centre on Rare Diseases CIBERER emphasises collaboration at third annual meeting

    The third Annual Scientific Meeting of the Biomedical Network Research Centre on Rare Diseases (CIBERER) took place in late October in Madrid, gathering in one spot the principal researchers on rare diseases in Spain. During the two-day meeting, over 70 presentations detailed the efforts of various research groups. The meeting highlighted the two principal elements that CIBERER wants to foster: the development of collaborating projects within the CIBERER groups; and the promotion of translational research and technology transfer. One presentation developed by research institute Ingenio (CSIC-Universidad Politécnica de Valencia) demonstrated the excellence of the articles written by CIBERER research groups. “An article written by a CIBERER group is quoted 22 times on average. On the contrary, the rest of the Spanish biomedical research groups’ works are quoted 8-12.5 times”.

    Myeloma UK clinical trial network provides innovative model for conducting rare disease studies
    Multiple myeloma is a bone marrow cancer arising from plasma cells. Myeloma UK last month launched a national Clinical Trial Network that will transform the procedures for testing and accessing myeloma medicinal products in the United Kingdom. The Clinical Trial Network will for the first time gather expert clinicians, researchers, the pharmaceutical industry and NHS regulatory bodies in order to “conceive, design and manage a portfolio of early phase trials of novel myeloma drugs in the UK”. Eight established research centres have been recruited to undertake the trials in the portfolio. These centres, located around the country, will receive support from a coordinating office based at the University of Leeds. In a press release, Eric Low, chief executive of Myeloma UK, commented, “This is the first properly coordinated early-phase trial network for myeloma in the UK and the first of its kind in the world. The model could also apply beyond myeloma and have huge implications for the way other rare disease communities trial new drugs.”
    The annual European Health Forum Gastein once again makes room on the agenda for rare diseases
    The eleventh European Health Forum that took place in Gastein, Austria in October 2008 marked the first time the annual health forum featured a segment devoted specifically to rare diseases. This year’s event has now repeated what is hoped will become a long-standing tradition. The twelfth European Health Forum Gastein (EHFG) again offered a workshop exclusively dedicated to issues concerning rare diseases and orphan drugs. How do we organise treatment of rare diseases in Europe: national activities and cross-border scientific and health policy perspectives? was the question posed this year, following the historical adoption of the Council Recommendation on an Action in the Field of Rare Diseases in June. To furnish a response, invited speakers presented Regional and national reference centers as guarantor for structural quality in the treatment of rare diseases; The Bulgarian National Plan for Rare Diseases-genetic disorders, congenital malformations and nonhereditary diseases (2009-2013); The Development of an Austrian National Plan for Rare Diseases - comparison with other European countries; Treatment of rare diseases: national and European implications from the patient’s point of view; and Research on rare disease: a European challenge. The speaker presentations are available on the EHFG website.

    EU Project Follow-up
    Health-e-Child project develops (rare) disease-matching tools that search and compare patient hospital data
    The Health-e-Child project, funded in part by the European Commission under the Sixth Framework Programme’s ICT strand, has as its aim “developing an integrated healthcare platform for European paediatrics, providing seamless integration of traditional and emerging sources of biomedical information. The long-term goal of the project is to provide uninhibited access to universal biomedical knowledge repositories for personalised and preventive healthcare, large-scale information-based biomedical research and training, and informed policy making”. Such a goal is highly relevant to the field of rare diseases of which an estimated 80% affect paediatric populations and which often have a scarcity of data. An interesting Health-e-Child product under development is the CaseReasoner, a tool that “enables clinicians to search thousands of disease diagnoses, treatments and outcomes to find a child similar to their own patients”. With CaseReasoner clinicians can determine their own parametres, including ordered and unstructured information – genetic markers, clinical information, and even CAT and MRI imagery. According to an article on the ICT Results website, results could then be displayed “as a ‘network’ with cohorts of anonymised patients with similar diagnoses clustered together and colour-graded accorded to the level of similarity. Clinicians can then dive into the detailed data on any of the patients or clusters to better understand their diagnoses and the success of the procedures the patients have been through”. The highly secured Health-e-Child system links “anonymised databases of patient information at hospitals in Paris, Genoa, Rome and London. There are plans to extend the network to 25 hospitals”. According to the ICT Results article, “researchers are working on tools for three complex paediatric diseases with at least partly unknown causes: heart diseases resulting from an overload of the right ventricle, juvenile idiopathic arthritis, and brain tumours (gliomas)”. Another tool the project is working on is called AITION. Developed by researchers at the University of Athens, AITION “will use semantic tools to search medical literature and interviews with clinicians as well as patient data. Drawing on well-established causal-probability algorithms, AITION will suggest probable disease development. Doctors using AITION will then be able to test their hypotheses on optimal treatment”. The project has to tackle “fundamental data sharing infrastructural problems as well as ethical and data protection questions, data analysis and data mining issues”. The Health-e-Child consortium has some fifteen partners from eight European Member State countries, including industrial partners Siemens, Maat G Knowledge and Lynkeus.

    Orphanet News
    New Texts
    New Orphanet Report Series captures patient registries in Europe

    A new Orphanet Report Series from the Rare Diseases Collection offers data on patient registries and databases established in Europe and surrounding countries and which are open to collaboration with researchers. This work-in-progress cannot be considered exhaustive as data gathering is an ongoing process. However, the report offers a list of key registries organised by country, by type (regional, national, European or international), and by institution(s), as well as a list of network registries. Consult Patient Registries in Europe. Further informaton on these registries is also available from the Research and Trials tab on the Orphanet homepage.

    Prevalence listed in alphabetical
    order of disease
    Diseases listed by decreasing prevalence

    Meanwhile, another Orphanet Report Series has recently been brought up to date. Prevalence of Rare Diseases: Bibliographic Data features prevalence data for 1892 rare diseases, organised in two formats: by alphabetical order and by decreasing prevalence. The prevalence reports are available in five European languages (French, English, German, Italian and Spanish.


    New Syndromes
    Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay
    Combined immunodeficiency can be isolated or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems The authors report a new syndrome in sisters born to consanguineous parents, presenting with combined immunodeficiency, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies.
    Read the PubMed abstract

    Clin Genet ; 449-457 ; November 2009
    Spinocerebellar ataxia type 31: a new disease form associated with inserted penta-nucleotide repeats containing (TGGAA)n
    The authors describe a new spinocerebellar ataxia disease entity. Spinocerebellar ataxia type 31 is an adult-onset autosomal-dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly affecting Purkinje cells and caused by the insertion of a microsatellite sequence (TGGAA)n between the genes TK2 and BEAN.
    Read the PubMed abstract

    Am J Hum Genet ; 544-557 ; November 2009
    Confetti-like macular atrophy: A new entity
    The authors describe two female patients with diffuse, hypopigmented, atrophic, shiny macules on the upper limbs and upper trunk. Histopathological examination revealed an atrophic epidermis with disorganised, hyalinised and coarse collagen bundles in the middle and lower dermis. Elastic fiber loss and fragmentation were detected. Histopathological findings in these cases showed features of both atrophoderma and anetoderma. These two cases are interesting because they may represent a clinicopathological entity which has not been described before.
    Read the PubMed abstract

    J Dermatol ; 592-597 ; November 2009
    Impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development with LTBP4 mutations
    The authors report recessive mutations in the gene for the latent transforming growth factor-beta binding protein 4 ( LTBP4) in four unrelated patients with a human syndrome disrupting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial, and dermal development. All patients had severe respiratory distress, with cystic and atelectatic changes in the lungs complicated by tracheomalacia and diaphragmatic hernia. Craniofacial features included microretrognathia, flat midface, receding forehead, and wide fontanelles. All patients had cutis laxa. Four of five identified LTBP4 mutations led to premature termination of translation and destabilization of the LTBP4 mRNA.
    Read the PubMed abstract

    Am J Hum Genet ; 593-605 ; November 2009

    New Genes

    Congenital stationary night blindness: TRPM1 mutations a common cause
    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterised by nonprogressive impaired night vision and variable decreased visual acuity. Two studies appearing in the American Journal of Human Genetics show that mutations in TRPM1, a retinal transient receptor potential cation channel gene, are at cause in the autosomal recessive form of the disorder.
    Read the first PubMed abstract
    Read the second PubMed abstract

    To read more about "Night blindness, stationary, congenital"

    Am J Hum Genet ; 720-729 ; November 2009
    Am J Hum Genet ; 730-736 ; November 2009

    Sensory and autonomic neuropathy type II: FAM134B mutations at cause
    Hereditary sensory and autonomic neuropathy type II (HSAN II) leads to severe mutilations because of impaired nociception and autonomic dysfunction. The authors show that loss-of-function mutations in FAM134B, encoding a newly identified cis-Golgi protein, cause HSAN II.
    Read the PubMed abstract

    To read more about "Hereditary sensory and autonomic neuropathy, type 2"

    Nat Genet ; 1179-1181 ; November 2009
    Chronic mucocutaneous candidiasis: dectin-1 deficiency at cause
    Chronic mucocutaneous candidiasis may be manifested as a primary immunodeficiency characterised by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant and autosomal recessive inheritance have been described. Two studies appearing in the New England Journal of Medicine identify new mutations linked to the disorder. One study describes patients with mutations in CARD9, the gene encoding the caspase recruitment domain-containing protein 9. The other study describes a family with mutations in the beta-glucan receptor dectin-1.
    Read the first PubMed abstract
    Read the second PubMed abstract

    To read more about "Chronic mucocutaneous candidiasis"

    N Engl J Med ; 1727-1735 ; 29 October 2009
    N Engl J Med ; 1760-1767 ; 29 October 2009

    Amelogenesis imperfecta, hypomaturation type: mutations in the beta propeller WDR72
    Amelogenesis imperfecta (AI) is a collective term for failure of normal dental enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is characterised by near-normal volumes of organic enamel matrix but with weak, creamy-brown opaque enamel that fails prematurely after tooth eruption. Mutations in genes critical to enamel matrix formation have been documented, but current understanding of other key events in enamel biomineralisation is limited. The authors investigated autosomal-recessive hypomaturation AI in a consanguineous Pakistani family, identifying a point mutation in the poorly characterised WDR72 gene. Screening of WDR72 in a panel of nine additional hypomaturation AI families revealed the same mutation in a second, apparently unrelated, Pakistani family and two further nonsense mutations in Omani families.
    Read the PubMed abstract

    To read more about "Amelogenesis imperfecta, hypomaturation type"

    Am J Hum Genet ; 699-705 ; November 2009
    Pitt-Hopkins-like syndrome: CNTNAP2 and NRXN1 are mutated
    Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated with a wide spectrum of neuropsychiatric disorders, such as developmental language disorders, autism spectrum disorders, epilepsy, and schizophrenia. The authors have now identified homozygous and compound-heterozygous mutations in CNTNAP2 and NRXN1 in four patients with severe intellectual deficit and variable features, such as autistic behaviour, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.
    Read the PubMed abstract

    To read more about "Pitt-Hopkins syndrome"

    Am J Hum Genet ; 655-666 ; November 2009
    Desbuquois dysplasia: identification of CANT1 mutations
    Desbuquois dysplasia is a severe condition characterised by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, the authors identified seven distinct mutations in the calcium-activated nucleotidase 1 gene (CANT1), which encodes a soluble UDP-preferring nucleotidase belonging to the apyrase family. These findings demonstrate the specific involvement of a nucleotidase in the endochondral ossification process.
    Read the PubMed abstract

    To read more about "Desbuquois syndrome"

    Am J Hum Genet ; 706-710 ; November 2009
    Autism: deregulation of EIF4E presents a novel mechanism
    Autism is a common childhood onset neurodevelopmental disorder, characterised by severe and sustained impairment of social interaction and social communication, as well as a notably restricted repertoire of activities and interests. Its aetiology is multifactorial with a strong genetic basis. The EIF4E gene is the rate limiting component of eukaryotic translation initiation, and plays a key role in learning and memory through its control of translation within the synapse. The authors present evidence that directly implicates EIF4E, and more specifically control of EIF4E activity, in autism.
    Read the PubMed abstract

    To read more about "Autism"

    J Med Genet ; 759-765 ; November 2009
    Retinitis pigmentosa: two new genes implicated
    Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterised by retinal pigment deposits visible on fundus examination. Two new genes have been implicated in the disorder, described in two studies appearing in the American Journal of Human Genetics. Mutations in the BEST1 gene, encoding bestrophin-1, cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. Here, the authors describe four missense mutations in bestrophin-1 in patients diagnosed with autosomal dominant and recessive forms of retinitis pigmentosa. In another study, the authors report the identification of a missense mutation in the SNRNP200 gene in a family.
    Read the first PubMed abstract
    Read the second PubMed abstract

    To read more about "Retinitis pigmentosa"

    Am J Hum Genet ; 581-592 ; November 2009
    Am J Hum Genet ; 617-627 ; November 2009

    Weill-Marchesani syndrome: ADAMTS17 mutations cause recessive form
    Weill-Marchesani syndrome (WMS) is a rare condition characterised by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. Autosomal-recessive and autosomal-dominant forms of WMS are caused by mutations in ADAMTS10 and FBN1 genes, respectively. Here the authors report two families and a sporadic case with phenotypes best described as WMS-like with homozygous mutations in the closely related ADAMTS17 gene. The clinical and genetic findings suggest that ADAMTS17 plays a role in crystalline lens zonules and connective tissue formation and that mutations in ADAMTS17 are sufficient to produce some of the main features typically described in WMS.
    Read the PubMed abstract

    To read more about "Weill-Marchesani syndrome"

    Am J Hum Genet ; 558-568 ; November 2009
    Dilated cardiomyopathy: nexilin mutations destabilize cardiac Z-disks
    Dilated cardiomyopathy is a heart muscle disease characterised by ventricular dilatation and impaired systolic function. PZ-disks, the mechanical integration sites of heart and skeletal muscle cells, link anchorage of myofilaments to force reception and processing. The key molecules that enable the Z-disk to persistently withstand the extreme mechanical forces during muscle contraction have not yet been identified. Here the authors isolated nexilin (encoded by NEXN) as a novel Z-disk protein. Loss of nexilin in zebrafish led to perturbed Z-disk stability and heart failure. To evaluate the role of nexilin in human heart failure, the authors performed a genetic association study on individuals with dilated cardiomyopathy and found several mutations in NEXN associated with the disease. Nexilin mutation carriers showed the same cardiac Z-disk pathology as observed in nexilin-deficient zebrafish. Expression in zebrafish of nexilin proteins encoded by NEXN mutant alleles induced Z-disk damage and heart failure, demonstrating a dominant-negative effect and confirming the disease-causing nature of these mutations.
    Read the PubMed abstract

    To read more about "Familial isolated dilated cardiomyopathy"

    Nat Med ; 1281-1288 ; November 2009
    Carbohydrate-deficient glycoprotein syndromes: COG5 deficiency causes a moderate form
    Carbohydrate-deficient glycoprotein (CDG) syndromes are a group of glycoprotein synthesis disorders characterised by neurological manifestations that can be associated with multivisceral involvement. To date, mutations in COG1, COG4, COG7 and COG8 genes have been associated with diseases, which range from severe multi-organ disorders to moderate forms of neurological impairment. In the present study, the authors describe a new type of COG deficiency related to a splicing mutation in the COG5 gene. Sequence analysis in the patient identified a homozygous intronic substitution leading to exon skipping and severely reduced expression of the COG5 protein. This defect was associated with a mild psychomotor retardation with delayed motor and language development. This case demonstrates that COG deficiency and thereby CDG must be taken into consideration even in children presenting mild neurological impairments.
    Read the PubMed abstract

    To read more about "CDG syndrome"

    Hum Mol Genet ; 4350-4356 ; 15 November 2009

    Research in Action

    A winning paper shows that when it comes to translating research into orphan drug development, disease matters
    A new paper appearing in the December issue of Drug Discovery Today was elected “best paper of the month” in PubMed’s BioWizard Drug Discovery section. And for good reason. The paper, Translation of rare disease research into orphan drug development: disease matters written by researchers from the Netherlands, presents a compelling argument for the need of other mechanisms in addition to the existing orphan drug regulation in order to spur orphan product development for those diseases with very low prevalence. The authors compared rare disease prevalence, class and scientific output with orphan drug designation in the USA and the EU and found that "a disease with a prevalence between 10 and 50 per 100,000 had a more than threefold higher chance of obtaining at least one product with a designation than a disease with a prevalence of 0.1–0.9 per 100,000".

    The authors explain the association between prevalence and orphan drug development as stemming from the conditions of drug development: "According to various sources, drug development is risky and costly. Moreover, conducting a clinical trial for a rare disease results in many practical limitations, such as finding sufficient patients and statistical challenges. These factors, combined with an intrinsic small market, make a favourable decision to develop a drug for less prevalent rare diseases unlikely, despite the incentives provided by current orphan drug legislation". Other factors playing a decisive role include disease class (oncology takes the lead amongst rare disease groups with orphan products while congenital malformations were associated with a “significantly lower chance to obtain at least one product with an orphan designation in comparison with all other disease classes”). This can be explained by the observation that “Successful translation of disease research into drug development consists of sufficient understanding of disease to discover the necessary drug targets and drug leads, which in turn can generate sufficient interest from sponsors to initiate a drug development programme". Scientific output is also a factor: “A disease for which more than 600 publications have been published had a twofold higher likelihood for obtaining at least one product with an orphan designation than a disease with less than 200 publications”. Thus, the authors point out that “rare disease research really paves the way for new treatments that might provide a benefit to patients with a rare disease. Moreover, the observed close link between rare disease research and orphan drug development seems to substantiate the view … that industry needs academia and academia needs industry in future (orphan) drug discovery and development programmes”. If the current legislation for orphan drugs is not sufficient for lower prevalence disorders, what other incentives and/or initiatives could serve to spur translational research for these diseases? The authors name pharmacy preparations, which have proven their added value in exceptionally rare disease management; public–private partnerships such as the European Innovative Medicines Initiative or the European Rare Diseases Therapeutic Initiative; and “patient-initiated crowd-sourcing or open-source research, such as LAMsight". Furthermore, a "strong transnational research agenda on rare diseases is required to provide the necessary input for more orphan drug development programmes. This agenda should not merely focus on stimulating rare disorder research in general but should also focus on the specific needs at disease class level, in close interaction with patient organisations and learned societies. In this respect, the disease class of oncological diseases can serve as a valuable role model for other disease classes. The first step in Europe, which is already underway, will be to link national efforts within a common European strategy for rare disease management with the aim of levering national research resources on rare diseases through synergistic cooperation and preparation of joint strategic activities". The E-Rare project is an example of such coordination.
    Read the PubMed abstract

    Fundamental Research
    Arrhythmogenic right ventricular cardiomyopathy: myocyte necrosis underlies progressive myocardial dystrophy
    Arrhythmogenic right ventricular cardiomyopathy/dysplasia is a heart muscle disease clinically characterised by life-threatening ventricular arrhythmias. The authors demonstrate that myocyte necrosis is the key initiator of myocardial injury, triggering progressive myocardial damage, including an inflammatory response and massive calcification within the myocardium, followed by injury repair with fibrous tissue replacement, and myocardial atrophy.
    Read the PubMed abstract

    To read more about "Arrhythmogenic right ventricular dysplasia"

    J Exp Med ; 1787-1802 ; 3 August 2009
    Congenital muscular dystrophy: Ku70 regulates Bax-mediated pathogenesis
    The severely debilitating disease congenital muscular dystrophy type 1A (MDC1A) is caused by mutations in the gene encoding laminin-alpha2. Bax-mediated muscle cell death is a significant contributor to the severe neuromuscular pathology seen in the Lama2-null mouse model of MDC1A. The authors analysed molecular mechanisms of Bax regulation in normal and laminin-alpha2-deficient muscles and cells, including myogenic cells obtained from patients with a clinical diagnosis of MDC1A. In mouse myogenic cells, they found that, as in non-muscle cells, Bax co-immunoprecipitated with the multifunctional protein Ku70. These results identify Ku70 as a regulator of Bax-mediated pathogenesis and a therapeutic target in laminin-alpha2-deficiency.
    Read the PubMed abstract

    To read more about "Congenital muscular dystrophy type 1A"

    Hum Mol Genet ; 4467-4477 ; 1 December 2009
    Clinical Research
    Phenotypic and genotypic analyses of genetic skin disease via the Online Mendelian Inheritance in Man (OMIM) database
    Despite unprecedented gains in genomic technologies and genotype resolution, there remain tremendous challenges in the ability to capture disease "phenomes". The authors propose a previously unreported method for deconvolving human disease into elemental features, thereby creating a third space that interacts with both the disease and genotypic spaces. Using cutaneous and noncutaneous clinical findings available through Johns Hopkins University’s Online Mendelian Inheritance in Man (OMIM) database, they set out to deconstruct genetic skin disease (GSD) into its various components, to more fully explore the relationship between these features within the complex phenotypic space and to characterise the genotypic space within which these disorders exist. Using OMIM, they defined the current state of GSD as including 560 distinct disorders associated with 501 unique protein-encoding genes. Functional analyses among GSD loci were mapped back to skin features, providing insights into pigmentary and auditory features. Phenotypic deconvolution provides a framework for analysing medical disorders and can aid in the organisation and elucidation of biological mechanisms related to human disease.
    Read the PubMed abstract

    J Invest Dermatol ; 2628-2636 ; November 2009
    Long-QT syndrome: distinguishing pathogenic mutations from benign variants
    Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. Hundreds of causative mutations in 12 known LQTS-susceptibility genes have been identified. Genetic testing that includes the 3 most commonly mutated genes is available clinically. Distinguishing pathogenic mutations from innocuous rare variants is critical to the interpretation of test results. The authors quantify the value of mutation type and gene/protein region in determining the probability of pathogenicity for mutations. Mutations in regions such as the transmembrane, linker, and pore of KCNQ1 and KCNH2 may be defined confidently as high-probability LQTS-causing mutations. These findings will have implications for other genetic disorders involving mutational analysis.
    Read the PubMed abstract

    To read more about "Long QT syndrome, familial"

    Circulation ; 1752-1760 ; 3 November 2009
    Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    The authors report a method for whole-exome sequencing coupling Roche/NimbleGen whole exome arrays to the Illumina DNA sequencing platform. They demonstrate the ability to capture approximately 95% of the targeted coding sequences with high sensitivity and specificity for detection of homozygous and heterozygous variants.
    Read the PubMed abstract

    PNAS USA ; 19096-19101 ; 10 November 2009
    Congenital limb malformations: genetic screening of 202 individuals reveals four priority genes
    Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. The authors aimed to characterise causative mutations in an unselected cohort of 202 patients with CLMs requiring reconstructive surgery. Based on higher mutation prevalence the authors propose four genes that should be prioritised for introduction into molecular genetic testing programmes for CLM. The authors have developed simple criteria that can refine the selection of patients by surgeons for referral to clinical geneticists.
    Read the PubMed abstract

    To read more about "Congenital limb malformation"

    J Med Genet ; 730-735 ; November 2009

    Patient Management and Therapy

    Prader-Willi syndrome: efficacy and safety of long-term continuous growth hormone treatment
    Children with Prader-Willi syndrome (PWS) have abnormal body composition and impaired growth. Short-term GH treatment has beneficial effects. This study shows that for children with PWS, four years of continuous GH improves body composition by decreasing fat percentage, stabilises head circumference and normalises height without adverse effects. Thus, long-term continuous GH treatment is an effective and safe therapy for children with PWS.
    Read the PubMed abstract

    To read more about "Prader-Willi syndrome"

    J Clin Endocrinol Metab ; 4205-4215 ; November 2009
    Nonimmune foetal goitrous hypothyroidism: intraamniotic thyroxine treatment safe and feasible
    Nonimmune foetal goitrous hypothyroidism is a rare condition that can induce obstetrical and/or neonatal complications and neurodevelopmental impairments such as those still seen in some patients with congenital hypothyroidism. Prenatal treatment to prevent these adverse outcomes is appealing, but experience is limited and the risk to benefit ratio controversial. To evaluate the feasibility, safety, and effectiveness of intrauterine l-thyroxine treatment in a large cohort with nonimmune fetal goitrous hypothyroidism, a retrospective study of 12 prenatally treated foetuses diagnosed between 1991 and 2005 in France was conducted. The data confirm the feasibility and safety of intraamniotic l-thyroxine treatment for nonimmune foetal goitrous hypothyroidism. Although goiter size reduction is usually obtained, thyroid hormone status remains deficient at birth. Amniocentesis seems inadequate for monitoring foetal thyroid function. Further studies are needed to determine the optimal management of this disorder.
    Read the PubMed abstract

    To read more about "Hypothyroidism, congenital"

    J Clin Endocrinol Metab ; 3731-3739 ; October 2009
    Acromegaly: effects of somatostatin analogs on growth hormone and insulin-like GF-I levels, tumor shrinkage, and heart disease
    The authors evaluated the efficacy of five years of depot somatostatin analogs (SSAs) as first-line therapy in acromegaly. In patients with severe comorbidities and those who refuse surgery, five years of exclusive somatostatin analogs therapy induce successful control of growth hormone and insulin-like growth factor-I levels; tumor shrinkage and improvement of hypertension, cardiac performance; and dyslipidemia. These data suggest that first-line SSA treatment may be safely continued in patients with acromegaly.
    Read the PubMed abstract

    To read more about "Acromegaly"

    J Clin Endocrinol Metab ; 3746-3756 ; October 2009
    Acromegaly: ACTH deficiency, higher doses of hydrocortisone replacement, and radiotherapy are predictors of mortality
    A number of retrospective studies report that patients with acromegaly have increased morbidity and premature mortality. Many patients with acromegaly develop hypopituitarism as a result of the pituitary adenoma itself or therapies such as surgery and radiotherapy. In this study, the authors report that radiotherapy and adrenocorticotropic hormone (ACTH) deficiency are significantly associated with increased mortality in patients with acromegaly. In ACTH-deficient patients, a daily dose of more than 25 mg hydrocortisone is associated with increased mortality compared to lower doses. These results have important implications for the treatment of patients with acromegaly and also raise issues as to the optimum hydrocortisone treatment regimens for ACTH-deficient patients.
    Read the PubMed abstract

    To read more about "Acromegaly"

    J Clin Endocrinol Metab ; 4216-4223 ; November 2009
    Wilson disease: long-term exclusive zinc monotherapy more successful in neurologic disease
    Wilson disease is an autosomal recessive disorder characterised by the toxic accumulation of copper, mainly in the liver and central nervous system. Exclusive monotherapy with zinc in symptomatic Wilson disease is controversial. Seventeen symptomatic patients with Wilson disease were treated with zinc only. The mean age at diagnosis and start of treatment was 18 years with approximately half presenting as adolescents. The median follow-up was 14 years. The outcome of exclusive zinc therapy is generally good in cases of neurologic disease. A less satisfactory outcome in hepatic disease may relate to less efficient decoppering.
    Read the PubMed abstract

    To read more about "Wilson disease"

    Hepatology ; 1442-1452 ; November 2009

    Orphan Drugs
    An innovative model from Australia to evaluate the long-term cost effectiveness of orphan drugs
    A study appearing in the Journal of Medical Economics describes the Bosentan Patient Registry (BPR), a risk-sharing model developed by a “precedent-setting collaboration” of stakeholders working together to provide clinical evidence that would support modelled predictions by linking registry survival outcomes to future prices of orphan and highly specialised medicinal products. Bosentan (bosentan monohydrate) has orphan designation in Australia, Japan, the USA and Europe for the treatment of idiopathic and/or familial pulmonary arterial hypertension. The Bosentan Patient Registry gathered medication, health and vital status data from clinicians, government health departments and death registries. The model identified several operational issues needing attention, particularly in the areas of “registry governance, ethics and patient privacy, and the collection of timely and accurate data.”
    Consult the PubMed abstract

    FDA and Genzyme issue warning for products Cerezyme, Fabrazyme, Myozyme, Aldurazyme, and Thyrogen
    The USA’s Food and Drug Administration along with Genzyme Corporation last month issued a warning to healthcare professionals concerning potential foreign particle contamination in several products indicated for rare disorders including Gaucher, Pompe and Fabry diseases and mucopolysaccharidosis I. The foreign particles include “stainless steel fragments, non-latex rubber from the vial stopper, and fiber-like material from the manufacturing process” and could potentially cause serious adverse events in patients. Cerezyme, Fabrazyme, Myozyme, and Thyrogen are supplied as lyophilized powders requiring reconstitution before administration; Aldurazyme is supplied as a liquid solution. Healthcare professionals are advised to “visually inspect the powder in the vial for the presence of particles, before reconstitution” and to "visually inspect the reconstituted powder (in solution) and the Aldurazyme solution for the presence of particles". For further information

    ERA-NET PRIOMEDCHILD issues first joint call for multinational research projects on priority medicines for children

    ERA-NET PRIOMEDCHILD brings together European national programmes, policy makers and programme managers in the field of public medical research aiming at innovative research programmes and the utilisation of research results on Priority Medicines for Children. Over 50% of the medicines used in children may not have been studied in this age group - including products for rare disorders. The PRIOMEDCHILD Joint Call is now open. This initiative seeks to enable effective multi-national collaboration on common transnational research projects based on complementarities and sharing of expertise, focusing on two particular topics: “The development or use of innovative methodology in medicines for children research;” and “Innovation of paediatric formulations and drug delivery systems”. Each proposal must involve a minimum of three participants from at least three countries of which two should be from Funding Partner countries (Estonia, Finland, France, Great Britain, Italy, Latvia, the Netherlands, and Poland). The deadline for submission of pre-proposals is 7 January 2010. Consult the call text


    What's on Where?

    2010 Neuromuscular Disorders Conference: Toward a Better Future
    Date: 26-27 February 2010
    Venue: Sydney, Australia

    Featuring a stimulating and progressive programme disseminating the most recent research in the field of neuromuscular conditions, this conference will provide an exciting poster session where up and coming researchers will have an opportunity to present their research to the neuromuscular community.
    For further details

    3rd International Rare Disease Day
    Date: 28 February 2010
    Venue: Worldwide

    This year’s theme: “Patients and Researchers: Partners for Life!” Further details soon available

    2nd Pan-European Conference on Haemoglobinopathies
    Date: 13-14 March 2010
    Venue: Berlin, Germany

    This conference aims to further strengthen the national and regional support networks for thalassaemia patients in Europe, and increase awareness among European medical professionals and national health authorities of the disorder, its proper management and prevention.
    For further details

    6th International Conference on Rare Diseases and Orphan Drugs
    Date: 18-20 March 2010
    Venue: Buenos Aires, Argentina

    The 6th International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) for the first time will be convened in the southern hemisphere in agreement with its aim of globalisation of rare disease research and orphan products development activities.
    For further details

    Clinical Molecular Genetics Society - Spring conference
    Date: 12-14 April 2010

    Venue: Oxford, United Kingdom
    Topics include new technologies, molecular pathology, pharmacogenetics, bioinformatics, and more. Deadline for abstract submission: 21 December 2009
    For further details

    Sickle Cell: The Next 100 Years
    Date: 14-16 April 2010
    Venue: Leicester, United Kingdom

    Sickle Cell: The Next 100 Years will mark the 100th anniversary since Dr James Herrick published his first observations on ‘peculiar elongated cells’, what is now known as sickle cell disease. This three day conference will bring together a selection of papers offering delegates the chance to explore the social research currently being carried out around the world. Deadline for abstract submission: 15 February 2010.
    For further details

    ESH-EHA Conference: Innovative Therapies for Red Cell and Iron Related Disorders
    Date: 16-18 April 2010
    Venue: Cascais, Portugal

    Sessions include: hematopoietic stem cell therapies; molecular switching in erythroid differentiation; gene therapy; iron regulatory pathway for therapies; innovative therapies for red cell disorders, and more.
    For further details

    18th International Workshop on Vascular Anomalies
    Date: 21-24 April 2010
    Venue: Brussels, Belgium

    Topics will include clinical and basic research in the pathophysiology, diagnosis and management of vascular anomalies, as well as the psychosocial challenges faced by the patients.
    For further details

    Birt-Hogg-Dubé Syndrome Symposium 2010
    Date: 22 April 2010
    Venue: Washington, DC USA

    A symposium for reviewing the latest developments for Birt-Hogg-Dubé syndrome.
    For further details

    5th European Conference on Rare Diseases 2010
    Date: 13-15 May 2010
    Venue: Crakow, Poland

    “From policy to effective services for patients”, this conference will look at national plans and strategies for rare diseases, European reference networks and centres of expertise, information and medical education, science from bench to bedside, rare diseases in central and Eastern Europe, and much more. Deadline for abstract submission: 31 December 2009
    For further details

    22nd Annual Meeting of the European Academy of Childhood Disability
    Date: 27-29 May 2010
    Venue: Brussels, Belgium
    This year’s event - Measures of Progress – Evaluating management outcome in childhood disability - will update and clarify the multidimensional model of disablement specifically applied to management of children with neurodevelopmental disability. Emphasis is on the need for reliable measurement of management outcomes through new findings, from functional imaging to quality of life assessment. Deadline for abstract submission: 1 February 2010
    For further details

    First International Workshop on Oesophageal Atresia
    Date: 27-28 May 2010
    Venue: Lille, France

    Amongst the topics covered will be: molecular embryology of the foregut; environmental factors in the etiology of esophageal atresia; genetic factors in isolated and syndromic esophageal atresia; ultrasound and MRI prenatal diagnosis of OA: impact on management; Outcomes of esophageal atresia beyond childhood; multidisciplinary clinics: how to improve the follow-up of the patients?; and family support groups: an essential contribution to follow-up care.
    For further details

    European Human Genetics Conference 2010
    Date: 12-15 June 2010
    Venue: Gothenburg, Sweden

    In conjunction with the European Meeting on Psychosocial Aspects of Genetics. Deadline for Abstract Submission: 19 February 2010.
    For further details

    14th International Conference on Behçet Disease
    Date: 8-10 July 2010
    Venue: London, England

    Presenting new developments in basic and clinical science to bear on the specific issues of Behçet Disease (BD). Topics to be covered will include immunology of BD, vasculitis in BD, genetic basis of BD, regional inflammation and paediatric BD. The programme will also include debates on topics of current interest or controversy.
    For further details

    MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
    Date: 16-18 September 2010
    Venue: Viareggio, Italy

    This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
    For further details


    Press & Publications
    British and International Paediatric Surveillance Units issue annual reports detailing rare and uncommon disorder surveillance

    The British Paediatric Surveillance Unit (BPSU) was established in 1986 to allow paediatricians to contribute to the epidemiological surveillance and further study of disorders affecting children. The BPSU has now published its 23rd annual report. This study typically undertakes surveillance of rare childhood disorders and/or rare complications of common diseases. This year’s report includes a surveillance study of congenital adrenal hyperplasia, congenital rubella, and medium chain acyl CoA dehydrogenase deficiency, amongst other conditions.

    Following the establishment of the BPSU, other countries have developed similar methodologies, including Australia, Canada, Cyprus, Germany, Greece, Latvia, the Netherlands, New Zealand, Portugal, and Switzerland. Argentina and Italy have also expressed interest in developing units. The combined activities of the International Network of Paediatric Surveillance Units (INoPSU) over the past ten years include surveillance of more than 180 rare conditions covering a child population of over 50 million and involving some 100,000 clinicians. The 2008 annual report of the INoPSU activities has also recently been released. Surveillance activities from 12 different countries is presented, each focusing on different specific rare and uncommon conditions including haemolytic-uraemic syndrome, Kawasaki Disease, neural tube defects, craniosynostosis, Langerhans cell histiocytosis, inborn errors of metabolism, juvenile idiopathic arthritis, and many others. The INoPSU annual report also gives an account of various conferences, events and publications that took place in the year.
    Consult the BPSU annual report
    Consult the INoPSU annual report


    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: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Helen Dolk, Anders Fasth, Laura Fregonese, Benjamin Guesdon, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the Rare Diseases Task Force
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