1 June 2011 print
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By popular demand ….Orphadata!
New Orphanet service provides the scientific community with a free access dataset for rare diseases and orphan drugs

Inspired by the growing number of requests for data from its database, Orphanet, the pan-European rare disease and orphan drug information portal, decided to create a comprehensive, high-quality and freely-accessible dataset related to rare diseases and orphan drugs that would be available in a reusable format. Launched last week, Orphadata was developed within the context of the RD Portal and the new Orphanet Europe joint action contracts funded by DG Sanco. Additional support is also provided by GSK. The dataset is a partial extraction of the data stored in Orphanet and will be updated monthly. For user convenience, the date of the last data release will be provided. Freely accessible in six languages (English, French, German, Italian, Portuguese and Spanish) the Orphadata dataset encompasses:
  • An inventory of rare diseases, cross-referenced with OMIM, ICD-10 and with genes in HGNC, OMIM, UniProtKB and Genatlas
  • A classification of rare diseases established by Orphanet, based on published expert classifications
  • Epidemiology data related to rare diseases in Europe (class of prevalence, average age of onset, average age at death) extracted from the literature
  • A list of signs and symptoms associated with each disease, with their frequency class within the disease

  • It is also possible, on request, to access other types of Orphanet data, including:
  • An inventory of Orphan Drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorisation, cross-linked with diseases
  • Summary information on each rare disease in six languages (English, French, German, Italian, Spanish, Portuguese)
  • URLs of other websites providing information on specific rare diseases
  • A directory of specialised services, providing information on centres of expertise, medical laboratories, diagnostic tests, research projects, clinical trials, patient registries, mutation registries, and patient organisations in the field of rare diseases, in each of the countries in Orphanet’s network
  • Learn more

    Orphadata provides a guide for users that defines and describes the elements of the dataset. Orphanet hopes that this latest offer will contribute to furthering research toward better understanding and treating rare diseases.

    EUCERD update
    National plans for rare diseases: what is your country doing?

    As the European Union Committee of Experts on Rare Diseases (EUCERD) prepares the new State of the Art of Rare Disease Activities in Europe, a comprehensive report of all the national- and EU-level activities in the field of rare diseases and orphan drugs, to be released this summer, it is a good time to take stock of the national plans for rare diseases that each Member State is encouraged to develop and implement under the Council Recommendation on an action in the field of rare diseases (2009/C151/02). Calling on the Member States to “elaborate and adopt a plan or a strategy … aimed at guiding and structuring relevant actions in the field of rare diseases, within the framework of their health and social systems” the Council Recommendation, adopted in June 2009 and endorsed unanimously by the EU Member States, urges the Member States to take action by the end of 2013 at the latest.

    The EUCERD State of the Art report will capture all the activities each Member State has going for rare diseases and orphan drugs – including the progress of meeting the Council Recommendation for developing a national strategy. The guidelines and recommendations developed in the framework of the Europlan project, including a guidance document recently issued entitled Recommendations for the development of national plans for rare diseases and a list of indicators designed to assess national initiatives on rare diseases are geared to help countries get the process underway.

    The EUCERD, composed of representatives from all the EU Member States as well as leading rare disease/orphan drug stakeholders from all activity strands (health professionals, regulatory agencies, research, patient organisations, information networks, and the biopharmaceutical industry), is also available to assist in achieving this important health policy objective and strongly urges each Member States to take action in compliance with the political commitments made at the Council level. The EUCERD encourages each country to take the steps necessary to put in place a national plan or strategy in the field of rare diseases, which is supported by good governance, with the involvement of all national stakeholders and adequate resources. This important health policy objective is crucial to millions of rare disease patients and their families throughout the EU.
    Learn more about the EUCERD report on the state of the art of rare diseases activities in Europe


    EU Policy News
    DG Research
    European Commission - DG Research and Innovation Call for Experts
    A European Commission call for the establishment of a database of independent experts to assist the Commission's services for tasks in connection with the Seventh Framework Programme (FP7) is open. Candidates wishing to express interest in participating in future FP7 evaluation, review and/or monitoring tasks, are invited to register.
    For further information

    For the forthcoming evaluation of proposals to be submitted in answer to the next Health Theme call for proposals (expected publication: July 2011), it is expected that rare diseases expertise will notably be needed in the following areas: preclinical development of orphan drugs (pharmacological, pharmacodynamics, pharmacokinetics and toxicological), clinical development of orphan drugs (bioavailability, bioequivalence, in vitro-in vivo correlation studies, human pharmacokinetic and pharmacodynamic studies, human efficacy and safety studies, clinical trials), clinical management of rare diseases patients (definition of outcome measures, evaluation of effectiveness and adverse events to treatments, best practice and knowledge sharing), -omics approaches, diagnostics tools, phenotyping of patients, in silico, in vitro and in vivo models, databases, biobanks, bioinformatics, statistics methods.

    Article reflects on past experience and future perspectives for the Committee for Orphan Medicinal Products

    The Committee for Orphan Medicinal Products (COMP) and the European Medicines Agency Scientific Secretariat have produced an article for Nature Reviews: Drug Discovery that details the progress made since the adoption of European Commission (EC) Regulation Number 141/2000, commonly referred to as the Orphan Drug Regulation (ODR) in 2000. The first decade of the ODR yielded more than 850 positive opinions for orphan product designation, adopted from 1235 applications reviewed since 2000. The authors note that “distribution of the prevalence of conditions for which the designations have been adopted to date shows that the most frequently designated conditions have been those that affect fewer than 1 in 10,000 patients (that is, ~50,000 patients in the EU)”. The number of applications has increased steadily each year during the first decade of the ODR. The authors cite the economic climate and the growing collaborations between the EMA and the Food and Drug Administration (FDA) in the USA as possible contributing factors to the increase in applications. This perspective article reviews the designation criteria and the incentives available under the ODR. Other interesting statistics concern the number of designated products that have received authorisation. Sixty-three designated products had received marketing authorisation by the end of 2010, of which oncology is by far the most common therapeutic area (41%). Interestingly, the average time span between designation and authorisation is only 2.8 years, indicating that designated products were at an advanced developmental stage. Some of the incentives of the ODR, however, are geared to support the developmental process.

    The article discusses other areas in which the COMP is active, including an advisory role to the EC “established in the EC Regulation Number 141/2000, Article 4(1) (b) — the COMP strongly supported the proposal from the EC Directorate-General for Research (DG Research) to fund the preclinical and clinical development of medicines for the treatment of rare diseases in the Seventh Framework Programme. Before this, the COMP had been regularly liaising with the DG Research and identifying areas in which research into rare diseases is particularly needed, taking into account the number of designations and the lack of development, or failures seen by regulators”. The COMP also is involved with the World Health Organization revision of the ICD 11 for rare diseases. The COMP also liaises internationally – particularly with the FDA in the USA. The two regulatory bodies are streamlining many procedures in a bid to accelerate the availability of rare disease products on both sides of the Atlantic.

    Finally, the paper considers future challenges and opportunities, speculating on the possible role the COMP and the EMA might play to help get authorised products distributed to patients across Europe – a procedure that presently is the responsibility of the Member States. The paper looks at some ways to address the existing unmet medical needs of patients with rare diseases and gives a “resounding yes” to the question of whether the orphan drug incentives will be needed ten years from now. The paper concludes that “the needs of many patients with rare diseases are far from fulfilled, and so continued committed efforts are required from the EU, its institutions and member states”.
    Consult the PubMed abstract


    National & International Policy Developments
    Other European news
    Nature Medicine reports on France’s second rare disease plan
    A highly desirable bi-product of forward-moving actions such as the Council Recommendation on an Action in the Field of Rare Diseases and the creation of an International Rare Disease Day is the increased attention rare diseases and orphan drugs are receiving in the media. Many big-league publications, such as those from the Nature Publishing Group, are regularly devoting more news space to rare disease and orphan drug issues. Thus the 28 February unveiling of the second French national plan for rare diseases – considered a model around the world – was the subject of a news article in the April issue of Nature Medicine. The article describes the main components of the second French plan, which had its first official meeting on 19 May, gathering the various members of the working committees to elaborate and delineate the objectives of the strategy. Learn more about the first meeting of the second French National Rare Disease Plan (in French)
    Other International News
    Process to “repurpose” existing products to extend indications to rare conditions underway
    In a press release, the National Institutes of Health (NIH) in the USA has announced that the screening of approved drugs for potential clinical utility for rare and neglected conditions has commenced. Coordinated by the NIH Chemical Genomics Center (NCGC), a definitive collection of approved drugs for screening has been assembled based on information gleaned from the NCGC Pharmaceutical Collection (NPC) browser. Providing “...complete information on almost 27,000 active pharmaceutical ingredients including 2,750 small molecule drugs that have been approved by regulatory agencies from the United States, Canada, Europe and Japan, as well as all compounds that have been registered for human clinical trials”.

    What’s in a name?
    An article appearing in the 27 April 2011 issue of Science Translational Medicine delineates the three main uses of the NPC: repurposing drugs for the treatment of rare and neglected conditions; refining the understanding of the toxicology of drugs; and improving the predictability of the general principles by which small molecules interact with their biological targets. The article describes the semantic and lexical complexities involved in compiling the NPC from the various regulatory sources, including the inconsistencies found in the meaning for terminology such as “molecular entity,” “active pharmaceutical ingredient,” “drug,” and drug product”. Detail is given to the manner by which the researchers undertook a “…rigorous process of definition, enumeration, and redundancy elimination” in order to determine a definitive number of the molecular entities, active pharmaceutical ingredients, drugs, and drug products for the NPC.

    A collaborative instrument
    The NPC is described as “a collaborative instrument” intended to allow the community, including disease foundations, industry, and academic investigators, to “…realize the full potential of these drugs for human health, addressing the many devastating and untreatable diseases for which therapeutics are so urgently needed”. According to the NIH press release, the NCGC has already “screened the approved drug collection against more than 200 cell-based models of disease. In every screen, NCGC characterizes the pharmacology of each compound over a wide range of concentrations using its signature quantitative high-throughput screening approach. All of the data from NCGC screens will be published and made publicly available”.

    The NPC browser allows users to explore drugs by name, chemical structure, approval status and indication. Groups interested in developing their own screening collections can “leverage the supplier and catalog information provided in the browser.” The browser also includes entries on investigational drugs. “The ultimate goal is to collect all of the more than 7,500 compounds that have been tested in man and which present potential jump-start development of treatments for rare and neglected diseases”.
    Consult the NIH press release
    Consult the PubMed abstract for the Science Translational Medicine article

    ThalInd: a model for country-specific, disease-centric bioinformatics resource
    The disease-centric and country-specific ThalInd database has been designed to operate at the national level in India, providing information across a wide spectrum of areas related to inherited haemoglobin disorders. A recent article in Human Mutation explores the features of this resource and demonstrates its utility for diverse stakeholders. Designed to go beyond the limits of a Locus-Specific Database to serve as a tool for clinical and population-based research and for the formulation and implementation of a public health approach to β-thalassaemia, ThalInd can be managed by a group or a consortium of researchers and clinicians engaged in the diagnosis, management or research of thalassaemia in various parts of India. Designed and currently hosted at the Centre for Comparative Genomics server at Murdoch University (Australia), the database contents can be loosely grouped into four categories: molecular genetics; population genetics; clinical phenotype-genotype correlations; and “a clutch of parameters to assess the disease burden, infrastructure and services”. Using the popular, platform-independent, free-access Leiden Open Variation Database system (LOVD), installed on an HTTP server, ThalInd offers a central web-based curatable database of unique β-globin gene variants, derived from the entry records of patients carrying a pathogenic mutation on one or both alleles. The β-globin gene, located on chromosome 11p15.5, has some 240 mutations reported. Expression of the β-globin gene is, however, influenced by secondary and tertiary genetic modifiers of the disease phenotype, resulting in extensive phenotypic diversity. National and ethnic mutation databases can help optimise molecular diagnostic services as well as contributing toward raising awareness among clinicians, scientists and the general public for genetic disorders prevalent to specific populations and communities Disease-specific national resources that could accommodate the requirements of information on disease burden, treatment options and existing facilities for diagnosis and tracking utilisation of these services, could be considered “the next critical phase in the evolution of web-based informatics resources on genetic disorders”. As genetic diseases become increasingly amenable to prevention, diagnostic and management strategies, informatics resources “…need to be extended and up-scaled to provide relevant information to a wide range of potential users, including clinicians, patients, genetic epidemiologists, health administrators and policymakers”. This is especially true in developing countries that struggle to provide resources for genetic disease patients. In India, the stem cell treatment for thalassaemia is beyond reach for the majority of patients, due to low donor availability, high costs associated, and a limited number of specialist centres equipped to carry out the procedure. Consequently, patients are reduced to burdensome (for the patient, family, and health system) management regimens involving transfusions and chelation. India is a rich, diverse country with multiple religious and marital practices. Prevalence of recessive mutations in some populations could stem from marital and reproductive practices. These considerations must be explored and acknowledged in order to optimise an informatics resource for thalassaemia and other inherited monogenic conditions. The ThalInd database could be adapted for different disease groups and different countries.
    Consult the PubMed abstract

    Interactive teaching software functioning as a virtual clinic for rare diseases: the example of the Hunter disease eClinic
    Providing education for the thousands of rare diseases identified to date is an ongoing challenge. Computer-based teaching is frequently cited as an area of promise for this field. An article appearing in the journal BMC Medical Education describes the Hunter disease eClinic, billed as “a self-training, user-friendly educational software programme”. Available on the Lysosomal Storage Research Group website in both English and Japanese languages, the Hunter disease eClinic functions via an Adobe Flash multimedia platform to provide “a realistic, interactive virtual clinic and instantaneous access to supporting literature on Hunter disease” (mucopolysaccharidosis type II). Designed specifically to facilitate independent learning about the management of Hunter disease, the eClinic concept “provides a useful model for independent learning about rare diseases in general, with specific applicability to lysosomal storage diseases and other inborn errors of metabolism. It provides the user with comprehensive, accurate and up-to-date information, which would normally take a great deal of time and effort to access and acquire through conventional means. While development of the program was both time consuming and costly, over the long-term and with broad use, this system offers significant advantages to learners faced with unusual and challenging clinical situations”. The eClinic is accompanied by an eBook, which “was developed in response to the need for readily accessible high-quality, resource information to fill in gaps in knowledge. This amounts to an electronic substitute for a textbook, but more easily accessible, comprehensive, relevant and user-friendly”. The potential for extending this methodology to other rare genetic diseases is evoked.
    Consult the BMC Medical Education article

    Learning about the brain and behaviour from looking at rare diseases
    A recently published paper in an issue of Behavior Genetics devoted to rare genetic diseases that affect the brain and behaviour, gives emphasis to the compelling argument that research into rare diseases can further understanding of common disorders, too. The authors “…bring together a range of papers where rare diseases were used as models to delineate specific aspects of learning and memory, or behaviour". There are many rare diseases that include manifestations of intellectual disability, developmental disorder and other behavioural anomalies. Included in this special issue are tuberous sclerosis, chromosome 8p inverted duplication-deletion syndrome, trisomy 21, Noonan and LEOPARD syndromes (both associated with dysregulation of RAS/MAPK signalling), neurofibromatosis, Williams-Beuren syndrome and DiGeorge syndrome. The article explores how diseases may share common pathophysiological mechanisms and thus a discovery in one can “… have direct relevance to many others”. Going further, the authors show how the exploration of rare diseases paves the way for understanding the causes and mechanisms of more common diseases, citing an article in the issue on the relationship between trisomy 21 and Alzheimer disease. Also evoked is the lesson that “rare diseases have helped to clarify that individual gene products may have multiple different functions…; Thus different mutations in a single gene may have a range of functional consequences, both at a biochemical and phenotypic level. Tierney et al. (Behav Genet 2011) clearly illustrate the variability of phenotypic expression in a group of normally-intelligent adults with tuberous sclerosis in spite of the fact that the majority had a mutation in the same gene". Finally, the article discusses how rare diseases “point out a number of factors to consider when using animal models to study human disease” and shows how rare diseases shed new light on the strengths and weaknesses of animal models in the study of behavioural phenotypes".
    Consult the PubMed abstract

    Informatics systems offer a solution for many aspects of rare disease management
    An article published in the European Journal of Medical Genetics considers how to organise adequate care for patients with very rare disorders. While individual disorders with a very low prevalence are by definition extremely uncommon, taken collectively they account for a considerable part of the total group of persons with rare disorders in Europe. The author calls for “virtual” centres of expertise, Wiki-like sites for information gathering, and email-based consultation facilities for the very rare diseases. Many stakeholders, however, are wary of splintering off policies and services for very low prevalence rare diseases, fearing it could dilute the momentum of actions geared toward the entire spectrum of rare diseases in Europe and abroad. Experts and policy makers have never determined a definition for the term “ultra-rare”. Furthermore, many high-prevalence rare diseases are rare in certain geographic regions, and vice-versa, low-prevalence rare conditions can have clusters of concentration. Finally, many of the interesting informatics-based options suggested for managing low-prevalence diseases could be applicable to all rare disease groups, especially in countries and regions troubled by financial constraints.
    Consult the PubMed abstract


    Ethical, Legal & Social Issues

    Granting march-in rights for Fabrazyme could ultimately end up hindering drug access
    Genzyme Corporation has been in the spotlight a lot lately. Manufacturing problems, takeover bids, contaminated products – these have been challenging times for the world’s leading orphan drug biotech - and anxious ones for the patients who rely on Genzyme’s products – mostly enzyme replacement therapies indicated for a clutch of different rare, genetically inherited lysosomal storage disorders which can have devastating effects on patient health. Genzyme’s latest woes come in the guise of potential legal action launched by patients with Fabry disease who fear they will have to sustain reduced treatment rations – currently half of the full dose - indefinitely. Also petitioning are recently diagnosed patients who cannot access the product at all. There is no approved alternative to Fabrazyme available in the USA.

    Because Fabrazyme was developed and patented via public funding by the National Institutes of Health (NIH), the Bayh-Dole Act of 1980 (35 U.S.C. 203 march-in rights) allows patients to petition to permit other manufacturers to produce the biologic. An earlier march-in petition for Fabrazyme has already been rejected by the NIH in part because it would be unlikely to increase the supply of alpha-galatadosidase during the term of the patent in question because of the time it would take for a manufacturer to gain approval and bring a product to market. Meanwhile, the Genzyme manufacturing delay, which was supposed to be resolved in early 2011, is expected to be cleared up later this year. Another citizens’ petition also called for Genzyme to give priority to USA-based patients. Genzyme sends a portion of its existing Fabrazyme stock to European patients, even though an alternate product (Replagal by Shire) is available in Europe. Replagal, in contrast, is not approved for use in the USA. Despite the effects on patient health caused by the shortage, a news article appearing in the May issue of Nature Medicine neatly explains how winning the right to “march in” and strip Genzyme of its exclusivity rights to Fabrazyme could have even more dire consequences in the long run: “If the NIH chooses to exercise its march-in muscle and strip the company of its patent exclusivity, Genzyme might be dissuaded from bothering to fix its problems and abandon its Fabrazyme development altogether. Such a move would leave patients in the lurch for far longer than the two years they’ve waited so far. Looking beyond this particular incident, a precedent-setting march-in could also have far-reaching ripple effects for the entire pharmaceutical industry. If any unexpected production woe is perceived as a threat to patent rights and, thus, profitability, drug companies might simply steer clear of academic-driven intellectual property, particularly in the arena of biologic drugs for rare diseases”. To help remedy the problem, approval for biologic products could be made “contingent on the existence of back-up plans”. However, some industry stakeholders point out that even this could potentially hinder the approval of new biologics as it would add to the costs of conducting trials and getting manufacturing approved. If manufacturers were required to have two or more different manufacturing sites, it could become prohibitively expensive for some, leading to fewer new drug approvals. Thus, this is an issue that remains unresolved at present.


    Orphanet News
    Orphanet Report Series Prevalence report now available in Portuguese; updated in all languages

    The Orphanet Report Series entitled Prevalence of Rare Diseases: Bibliographic Data features prevalence data for over 2000 rare diseases, organised in two formats: by alphabetical order and by decreasing prevalence. The prevalence report has been brought up to date and is now available in Portuguese, in addition to French, English, German, Italian and Spanish.


    New Syndromes

    A lethal congenital epidermolysis bullosa due to lack of plakoglobin
    The authors report the case of a patient born to first cousin parents who suffered from lethal severe congenital skin fragility with generalized epidermolysis and massive transcutaneous fluid loss. An essential component of epidermal adhesive structures, interacting with multiple binding partners, appeared defective, leading to devastating effects on the desmosomes and desmosomal proteins. As plakoglobin is an essential component of both desmosomes and adherens junctions and has a plethora of interaction partners, the authors looked for mutations in JUP (junction plakoglobin, the plakoglobin gene). They found a homozygous nonsense mutation, c.1615C>T, p.Q539X. There was a complete loss of plakoglobin in the patient’s skin, which explained extreme skin fragility causing perinatal death, but was compatible with the development and function of the heart.
    Read the PubMed abstract

    Hum Mol Genet ; 1811-1819 ; 1 May 2011
    Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from congenital erythropoietic porphyria
    Several cases of congenital erythropoietic porphyria (CEP) with adult onset, some of which are associated with myeloid malignancy, had been described previously. Here, the authors describe 3 new patients aged 64-75 years with a preexisting myeloid malignancy who subsequently developed CEP. These patients had lower erythrocyte porphyrin concentrations compared with childhood or adult-onset CEP, and normal erythrocyte UROS (uroporphyrinogen III synthase) activity. The authors found no germline mutations in UROS or GATA1, in contrast to hereditary CEP. Genetic analyses suggested that only a small proportion of circulating red cells were uroporphyric. It seemed probable that this minor clone of cells contained an acquired somatic mutation that led to UROS deficiency. The cause of this deficiency remains to be identified. These three patients bring the total number of reported cases of erythropoietic uroporphyria associated with myeloid malignancy to eight. All were male patients, had a preexisting myeloid disorder, and presented with fragility and blistering in exposed skin after the age of 50 years. None had a family history of CEP. The authors consider these features define a separate condition, which they termed ‘‘erythropoietic uroporphyria secondary to myeloid malignancy’’.
    Read the PubMed abstract

    J Invest Dermatol ; 1172-1175 ; May 2011

    New Genes

    Megalencephalic leukoencephalopathy with subcortical cysts: different phenotypes associated with GlialCAM mutations
    Read the PubMed abstract
    To read more about "Megalencephalic leukoencephalopathy with subcortical cysts"

    Am J Hum Genet ; 422-432 ; April 2011
    Autosomal-recessive congenital ichthyosis: a mutation in LIPN (encoding Epidermal Lipase N) causes a late-onset form
    Read the PubMed abstract
    Am J Hum Genet ; 482-487 ; 8 April 2011
    Warburg micro syndrome: loss-of-function mutations in RAB18 at cause
    Read the PubMed abstract
    To read more about "Micro syndrome"

    Am J Hum Genet ; 499-507 ; 8 April 2011
    Isolated cytochrome C oxidase deficiency: a mutation in c2orf64 is responsible in a family with neonatal cardiomyopathy
    Read the PubMed abstract
    To read more about "Leigh syndrome with myopathy"

    Am J Hum Genet ; 488-493 ; 8 April 2011
    Short-rib polydactyly syndrome: severe forms due to mutations in WDR35
    Read the PubMed abstract
    To read more about "Short rib-polydactyly syndrome"

    Am J Hum Genet ; 508-515 ; 8 April 2011
    Microcephalic osteodysplastic primordial dwarfism type 1: several mutations in U4atac snRNA identified
    Read the PubMed abstract
    To read more about "Microcephalic osteodysplastic primordial dwarfism types 1 and 3"

    Science ; 238-240; 240-243 ; 8 April 2011
    Systemic sclerosis: CD226 Ser(307) variant as a new genetic susceptibility factor
    Read the PubMed abstract
    To read more about "Systemic sclerosis"

    Arthritis Rheum ; 1097-1105 ; April 2011
    Dilated cardiomyopathy: mutations in BAG3 are probably implicated in familial forms of the disease
    Read the PubMed abstract
    To read more about "Familial dilated cardiomyopathy"

    Eur Heart J ; 1065-1076 ; May 2011

    Research in Action

    Fundamental Research
    Hepatocellular carcinoma : MYBL2 activation and Notch1/Snail expression are important and differ according to p53 status
    Read the PubMed abstract
    To read more about "Hepatocellular carcinoma"

    Hepatology ; 1226-1236; 1352-1362 ; April 2011
    Pilocytic astrocytoma: a mouse model shows that the activated BRAF kinase domain is sufficient to induce the disease
    Read the PubMed abstract
    To read more about "Pilocytic astrocytoma"

    J Clin Invest ; 1344-1348 ; 1 April 2011
    Sickle cell anaemia: CXCL1/CXCR2 mediates vaso-occlusion during haemolytic transfusion reactions in a mouse model
    Read the PubMed abstract
    To read more about "Sickle cell anemia"

    J Clin Invest ; 1397-1401 ; 1 April 2011
    Huntington disease: dysregulated brain creatine kinase is associated with hearing impairment in mouse models
    Read the PubMed abstract
    To read more about "Huntington disease"

    J Clin Invest ; 1519-1523 ; 1 April 2011
    Dilated cardiomyopathy: impaired thymic tolerance to alpha-myosin directs autoimmunity to the heart in mice and humans
    Read the PubMed abstract
    To read more about "Dilated cardiomyopathy"

    J Clin Invest ; 1561-1573 ; 1 April 2011
    Dystroglycanopathies: novel animal models with mutation in DAG1 or inhibition of Fukutin family protein activities
    Read the PubMed abstract
    To read more about "Autosomal recessive limb-girdle muscular dystrophy"

    Hum Mol Genet ; 1712-25; 1763-1775 ; 1 May 2011
    Dilated cardiomyopathy: selective deletion of long but not short Cypher isoforms leads to late-onset disease
    Read the PubMed abstract
    To read more about "Familial isolated dilated cardiomyopathy"

    Hum Mol Genet ; 1751-1762 ; 1 May 2011
    Progeria: recapitulation of premature ageing with induced pluripotent stem cells from patient fibroblasts
    Read the PubMed abstract
    To read more about "Hutchinson-Gilford progeria syndrome"

    Nature ; 221-225 ; 14 April 2011
    Duchenne muscular dystrophy: MMP-2 may be essential for growth of regenerated muscle fibers through angiogenesis
    Read the PubMed abstract
    To read more about "Duchenne muscular dystrophy"

    Hum Mol Genet ; 1787-1799 ; 1 May 2011
    Multiple exostoses: compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of exostoses in a mouse model
    Read the PubMed abstract
    To read more about "Multiple osteochondromas"

    Bone ; 979-987 ; 1 May 2011
    Wilson disease: findings on mitochondrial alterations induced by copper in a rat model
    Read the PubMed abstract
    To read more about "Wilson disease"

    J Clin Invest ; Epub ahead of print ; 1 April 2011
    Proximal spinal muscular atrophy: increased IGF-1 in muscle modulates the phenotype of severe SMA mice
    Read the PubMed abstract
    To read more about "Proximal spinal muscular atrophy"

    Hum Mol Genet ; 1844-1853 ; 1 May 2011
    Clinical Research
    Systemic capillary leak syndrome: a case series of 28 patients from a European registry
    Read the PubMed abstract
    To read more about "Capillary leak syndrome"

    Ann Intern Med ; 464-471 ; 5 April 2011
    Hemoglobin H disease: the childhood phenotype varies with the genotype
    Read the PubMed abstract
    To read more about "Alpha-thalassemia"

    N Engl J Med ; 710-718 ; 24 February 2011
    Juvenile dermatomyositis: a case-control study of cardiac dysfunction
    Read the PubMed abstract
    To read more about "Juvenile dermatomyositis"

    Ann Rheum Dis ; 766-771 ; May 2011
    Periodic fever syndrome: long-term clinical profile of children with the low-penetrance R92Q mutation of TNFRSF1A
    Read the PubMed abstract
    To read more about "Periodic fever syndrome"

    Arthritis Rheum ; 1141-1150 ; April 2011
    Sickle cell disease: the rate of hemolysis correlates with the quantity of active von Willebrand factor in the plasma
    Read the PubMed abstract
    To read more about "Sickle cell anemia"

    Blood ; 3680-3683 ; 31 March 2011
    Fucosidosis: a case control study shows increased cerebellar volume in the early stage of the disease
    Read the PubMed abstract
    To read more about "Fucosidosis"

    Neuroradiology ; Epub ahead of print ; 8 March 2011
    Hurler syndrome: effect of haematopoietic stem cell transplantation on the craniocervical junction
    Read the PubMed abstract
    To read more about "Hurler syndrome"

    J Inherit Metab Dis ; Epub ahead of print ; 17 March 2011
    Immune thrombocytopenic purpura: long-term clinical outcomes in a Danish population-based cohort study
    Read the PubMed abstract
    To read more about "Immune thrombocytopenic purpura"

    Blood ; 3514-3520 ; 31 March 2011
    Fanconi anaemia: origin, functional role, and clinical impact of FANCA mutations
    Read the PubMed abstract
    To read more about "Fanconi anemia"

    Blood ; 3759-3769 ; 7 April 2011
    Mediastinal fibrosis: percutaneous vascular stent implantation as treatment for central vascular obstruction
    Read the PubMed abstract
    To read more about "Mediastinal fibrosis"

    Circulation ; 1391-1399 ; 5 April 2011
    Perihilar cholangiocarcinoma: a new staging system and an online-based registry
    Read the PubMed abstract
    To read more about "Klatskin tumor"

    Hepatology ; 1363-1371 ; April 2011
    Pancreatic ductal adenocarcinoma: characterisation of subtypes and their different responses to therapy
    Read the PubMed abstract
    To read more about "Pancreatic carcinoma"

    Nat Med ; 500-503 ; April 2011
    Partial chromosome Y deletion: aberrations in pseudoautosomal regions can be found associated with Y microdeletions
    Read the PubMed abstract
    To read more about "Partial chromosome Y deletion"

    J Clin Endocrinol Metab ; E674-9 ; April 2011
    Congenital insensitivity to pain: loss-of-function mutations in sodium channel Na(v)1.7 cause anosmia
    Read the PubMed abstract
    To read more about "Congenital insensitivity to pain"

    Nature ; 186-190 ; 14 April 2011
    Primary amyloidosis: clinical utility and prognostic value of multiparameter flow cytometry immunophenotyping
    Read the PubMed abstract
    To read more about "Primary amyloidosis"

    Blood ; 3613-3616 ; 31 March 2011
    Inborn errors of metabolism: a review of pathogenesis and treatment of cancers associated with these conditions
    Read the PubMed abstract
    Am J Hum Genet ; 402-421 ; 8 April 2011
    TRAPS syndrome: role of IL-6 and outcomes following treatment with an anti-IL-6R monoclonal antibody in a patient
    Read the PubMed abstract
    To read more about "TRAPS syndrome"

    Arthritis Rheum ; 1151-1155 ; April 2011
    Neonatal hyperparathyroidism: clinical benefit from cinacalcet in a subject with a heterozygous CASR R185Q mutation
    Read the PubMed abstract
    To read more about "Neonatal severe primary hyperparathyroidism"

    J Clin Endocrinol Metab ; E707-712 ; April 2011
    Diffuse lymphangiomatosis: effect of propanolol in an intractable case
    Read the PubMed abstract
    To read more about "Diffuse lymphatic malformation"

    N Engl J Med ; 1380-1382 ; 7 April 2011
    Gaucher disease: neurological manifestations in patients and their relatives
    Read the PubMed abstract
    To read more about "Gaucher disease"

    J Inherit Metab Dis ; Epub ahead of print ; 8 March 2011
    Gaucher disease type 1 and 3: diffusion tensor imaging as a surrogate marker of neuronopathic paediatric disease
    Read the PubMed abstract
    To read more about "Gaucher disease type 1"
    To read more about "Gaucher disease type 3"

    J Inherit Metab Dis ; 549-553 ; April 2011
    Gaucher disease type 1: results of imiglucerase therapy in 14 patients with pulmonary vascular disease
    Read the PubMed abstract
    To read more about "Gaucher disease type 1"

    J Inherit Metab Dis ; Epub ahead of print ; 29 March 2011
    Nelson syndrome: pregnancy does not accelerate corticotroph tumour progression
    Read the PubMed abstract
    To read more about "Nelson syndrome"

    J Clin Endocrinol Metab ; E658-E662 ; April 2011
    Mucopolysaccharidosis type 1: identification and characterisation of 35 novel alpha-L-iduronidase alleles
    Read the PubMed abstract
    To read more about "Mucopolysaccharidosis type 1"

    Hum Mutat ; Epub ahead of print ; 10 March 2011
    Hepatocellular adenoma: accuracy of magnetic resonance imaging and liver biopsy in subtype classification
    Read the PubMed abstract
    To read more about "Hepatocellular adenoma"

    Hepatology ; 1182-1191 ; April 2011
    Amyotrophic lateral sclerosis: ataxin-2 intermediate-length polyglutamine expansions are risk factor in Europeans
    Read the PubMed abstract
    To read more about "Amyotrophic lateral sclerosis"

    Hum Mol Genet ; 1697-1700 ; 1 May 2011
    Stem Cells

    Early-onset sensorineural hearing loss: functional effects of adult human olfactory stem cells in a mouse model
    The authors injected adult human olfactory mucosa-derived stem cells into the cochleae of model mice during the time period in which hearing loss first becomes apparent. One month after transplantation, hearing threshold levels in stem cell-transplanted mice were found to be significantly lower than those of sham-injected mice. Transplanted cells survived within the perilymphatic compartments but did not integrate into cochlear tissues.
    Read the PubMed abstract

    Stem Cells ; 670-677 ; April 2011
    Gene Therapy
    Renal cell carcinoma: a phase-I study with allogeneic gene-modified tumor cells as vaccine in patients with metastatic disease
    10 HLA-A(*)0201(+) patients suffering from histologically-confirmed progressive metastatic clear cell renal cell carcinoma were repetitively immunized over 22 weeks with IL-7/CD80 cotransfected allogeneic HLA-A(*)0201(+) tumour cells. Vaccination was feasible and safe. In all, 50% of the patients showed stable disease throughout the study; the median time to progression was 18 weeks. However, vaccination was not able to induce TH1-polarized immune responses. A TH2 cytokine profile with increasing amounts of antigen-specific IL-10 secretion was observed in most of the responding patients. Interferon-gamma secretion was substantially impaired. This was possibly due to profound tumor-induced immunosuppression, which may have prevented induction of antitumour immune responses by the gene-modified vaccine. Vaccination in minimal residual disease with concurrent depletion of regulatory cells might be one strategy to overcome this limitation.
    Read the PubMed abstract

    To read more about "Renal cell carcinoma"

    Gene Ther ; 354-363 ; April 2011
    Bardet-Biedl syndrome: gene therapy prevents photoreceptor death and preserves retinal function in a mouse model
    The authors developed an adeno-associated viral vector, mediating Bbs4 delivery, that rescued rhodopsin mislocalization, maintained nearly normal-appearing rod outer segments, and prevented photoreceptor death in a Bardet-Biedl syndrome mouse model (Bbs4-null mice). Analysis of the electroretinogram a-wave indicated that rescued rod cells were functionally indistinguishable from wild-type rods.
    Read the PubMed abstract

    To read more about "Bardet-Biedl syndrome"

    PNAS USA ; 6276-6281 ; 12 April 2011
    Therapeutic Approaches
    Niemann-Pick disease type C1: histone deacetylase inhibitor treatment reduces cholesterol accumulation in human fibroblasts
    The authors report the use of a series of small molecule histone deacetylase (HDAC) inhibitors in tissue culture models of Niemann-Pick type C (NPC) human fibroblasts. Some HDAC inhibitors led to a dramatic correction in the NPC phenotype in cells with NPC1 mutation; HDAC inhibitor treatment was ineffective in an NPC2 mutant human fibroblast line. LBH589 (panobinostat), an orally available HDAC inhibitor that crosses the blood-brain barrier and is currently in phase III clinical trials for cancers, rapidly restored cholesterol homeostasis in cultured NPC1 mutant fibroblasts when used at 40 nM. These findings provide the potential basis for treatment options for NPC disease.
    Read the PubMed abstract

    To read more about "Niemann-Pick disease type C"

    PNAS USA ; 5620-5625 ; 5 April 2011
    Diagnostic Approaches

    Haemophilia: noninvasive prenatal diagnosis by microfluidics digital PCR analysis of maternal plasma DNA
    The authors developed a noninvasive test to diagnose whether a foetus has inherited a causative mutation for haemophilia from its mother. The strategy is based on a relative mutation dosage approach, used to deduce whether the foetus has inherited a haemophilia mutation by detecting whether the concentration of the mutant or wild-type allele is overrepresented in the plasma of a heterozygous mother. The authors correctly detected foetal genotypes for haemophilia mutations in all of the 12 studied maternal plasma samples obtained from at-risk pregnancies from as early as the 11th week of gestation.
    Read the PubMed abstract

    To read more about "Hemophilia"

    Blood ; 3684-3691 ; 31 March 2011
    Autoimmune pancreatitis: endoscopic retrograde pancreatography criteria for diagnosis
    This two phase international multicentre study aimed to develop criteria for autoimmune pancreatitis (AIP) by using endoscopic retrograde pancreatography (ERP). The authors found that some specific ERP features are helpful in the diagnosis, but that the ability to diagnose AIP based on ERP features alone is limited. Knowledge of some key features can improve the performance characteristics of ERP. Four key features of AIP identified in phase I were (i) long (>1/3 the length of the pancreatic duct) stricture; (ii) lack of upstream dilatation from the stricture (<5 mm); (iii) multiple strictures; and (iv) side branches arising from a strictured segment. The authors propose an algorithm to diagnose AIP as well as to differentiate it from pancreatic cancer.
    Read the PubMed abstract

    To read more about "Autoimmune pancreatitis"

    Gut ; 666-670 ; May 2011

    Patient Management and Therapy

    Duchenne muscular dystrophy: systemic administration of PRO051 antisense oligonucleotide modestly improved the 6-min walk test
    The authors administered weekly abdominal subcutaneous injections of PRO051 – an antisense oligonucleotide inducing exon skipping during dystrophin mRNA maturation – for 5 weeks in 12 patients (4 dosages, from 0.5 up to 6 mg/kg, each given to 3 patients). After an interval of 6 to 15 months, each patient restarted weekly injections at 6 mg/kg for 12 weeks. There were no serious adverse events. New dystrophin expression was observed between approximately 60% and 100% of muscle fibers in 10 of the 12 patients, as measured on post-treatment biopsy, which increased in a dose-dependent manner to up to 15.6% of the expression in healthy muscle. After the 12-week extension phase, there was a mean (±SD) improvement of 35.2±28.7 m (from the baseline of 384±121 m) on the 6-minute walk test.
    Read the PubMed abstract

    To read more about "Duchenne muscular dystrophy"

    N Engl J Med ; 1513-1522 ; 21 April 2011
    Systemic-onset juvenile idiopathic arthritis: effect of the interleukin-1 receptor antagonist anakinra
    The authors compared the efficacy of a 1-month treatment with anakinra with a placebo between two groups each with 12 patients with active systemic-onset juvenile idiopathic arthritis despite corticosteroid treatment. After month 1 (M1), 8 patients receiving anakinra and 1 patient in the placebo group were responders. 10 patients from the placebo group switched to anakinra; 9 were responders at M2. Between M1 and M12, 6 patients stopped treatment owing to an adverse event, lack of efficacy or a disease flare. Blood gene expression profiling at enrolment and at 6 months’ follow-up showed one set of dysregulated genes that reverted to normal values in the clinical responders and a different set, including interferon-inducible genes, that was induced by anakinra.
    Read the PubMed abstract

    To read more about "Idiopathic juvenile-onset systemic arthritis"

    Ann Rheum Dis ; 747-754 ; May 2011
    Congenital heart disease: best practices in managing transition to adulthood published by the American Heart Association
    Adolescents with congenital heart disease (CHD) constitute a growing population of individuals for whom a well-planned and well-executed “transition process” is essential. The American Heart Association (AHA) presents guidelines for clinicians to promote successful transition of care, with regards to medical as well as psychosocial issues. Important issues discussed are the timing of transition – which should be initiated by the paediatric cardiology provider and greatly engage the adolescent –, the relations with primary care provider, residual surgical issues, genetic, sexuality and reproductive counselling, exercise prescription, education and career choice, health and life insurance, and end of life. The concept of transition should be introduced much earlier than during adolescence, in a pretransition phase. When the patient is mature, the transition can be initiated. AHA experts list a core educational curriculum to ensure that the patients have a good understanding of their diagnosis and medical history, have been taught to recognise signs and symptoms, to understand therapies, and to navigate the adult healthcare system. There should be a policy on timing for transfer of care to adult healthcare system. AHA experts insist on flexibility during the whole process.
    Read the PubMed abstract

    To read more about "Congenital heart malformation"

    Circulation ; 1454-1485 ; 5 April 2011

    Orphan Drugs
    Ten COMP orphan designations for the month of May
    The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted ten positive opinions issued at the May 2011 COMP meeting for the treatment of:

    - focal segmental glomerulosclerosis
    - acute lymphoblastic leukaemia
    - hepatocellular carcinoma
    - multiple myeloma
    - mobilisation of progenitor cells prior to stem cell transplantation
    - prevention of ischaemia/reperfusion injury associated with solid organ transplantation
    - pancreatic cancer
    - post-essential thrombocythaemia myelofibrosis
    - post-polycythaemia vera myelofibrosis
    - primary myelofibrosis

    Consult the European Register of Designated Orphan Medicinal Products
    Consult the Orphanet list of orphan drugs authorised for marketing in Europe

    CHMP adopts positive opinion for extending indication of RoActemra (tocilizumab) to systemic juvenile idiopathic arthritis
    At the May 2011 meeting of the Committee for Medicinal Products for Human Use (CHMP), the Committee adopted a positive opinion for an application for extension of therapeutic indication, adding a new treatment option for RoActemra (tocilizumab), from Roche Registration Ltd, to include the treatment of systemic juvenile idiopathic arthritis in patients from two years of age and older.
    FDA approves treatment for progressive neuroendocrine tumours

    In the USA, the U.S. Food and Drug Administration approved Afinitor (everolimus) to treat patients with progressive neuroendocrine tumours located in the pancreas that cannot be removed by surgery or that have spread to other parts of the body.



    Histiocytosis Association of America accepting proposals for its 2011 Research Grant Program cycle
    The Histiocytosis Association of America is a nonprofit organisation dedicated to raising awareness about histiocytic disorders, providing educational and emotional support, and funding research to lead to better treatments and a cure. Proposals are being accepted for research into the causes, mechanisms, and improved means of treatment for histiocytic disorders. Proposal applications must be received by 1 July 2011.
    Learn more


    Partnersearch, Job Opportunities

    Courses & Educational Initiatives

    Update in Neuromuscular Disorders
    Being held from 13-16 June 2011, at the Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, in London, this established paediatric and adult course is now in its fourth year. Topics to include: What’s new in Duchenne muscular dystrophy?; Cognitive and behavioural profile of Duchenne MD; Psychological effects of participation in clinical trials; Cardiac involvement in neuromuscular disease; Congenital muscular dystrophies; Mitochondrial disorders – classification and genetic basis; and much more.
    For further details

    Mental Retardation: From Clinic to Gene and Back
    Held from 4-8 July 2011 in Braga, Portugal, this course offers a structured review and update on the genetic basis of intellectual deficit, including discussion of the three main groups of genetic causes of intellectual deficit: malformation syndromes, predominantly neuromuscular disorders and metabolic diseases.
    For further details

    Goldrain Courses in Clinical Cytogenetics and in Prenatal Genetic Diagnosis
    The upcoming Goldrain Clinical Cytogenetics course, from 28 August to 3 September 2011 at the Goldrain Castle in South Tyrol (Italy), focuses on phenotypic findings, mechanisms of origin and transmission and correlations of clinical patterns with the chromosomal imbalance. Special attention is paid to an understanding how deletions and/or duplications of chromosomal segments cause developmental defects. The course also addresses the optimal application of the diagnostic possibilities including molecular cytogenetic methods for a precise determination of segmental aneuploidy.
    The Prenatal Genetic Diagnosis course, taking place from 15 to 21 October 2011 also at the Goldrain Castle, is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. TOPICS include Techniques: Amniocentesis and amniocyte examination, chorionic villus sampling and examination, cordocentesis and fetal blood examination, pre-implantation genetic diagnosis, prenatal diagnosis from fetal DNA and cells in maternal blood, QF-PCR and MLPA, DNA-arrays, aneuploidy screening and PGD, QF-PCR as a stand-alone test. Obstetric issues: Obstetric indications for PD, prenatal dysmorphology and assessment of congenital developmental defects, PD in twins and selective fetocide, the fetal heart as a window to detect genetic problems, risk assessment for chromosomal anomalies following non-invasive prenatal testing, prenatal ultrasonic diagnosis: routine screening approach; specific examinations; fetal therapy; prenatal magnetic resonance examination. Genetic issues: genetic counseling in the context of potential prenatal diagnosis, genetic indications for PD, estimation and calculation of recurrence risks, techniques and their indications: conventional cytogenetics; molecular cytogenetics; mutation analysis; biochemical diagnosis; questionable results; mosaicism and chimaerism. Ethical considerations.
    For further details

    4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
    The University of Rostock is organising the 4th International Postgraduate Course on Lysosomal storage disorders: diagnostic background and clinical therapy to take place in Berlin, Germany from 14-15 November 2011. Scientific excellence in talks will be connected with presentations and discussion of real clinical cases embedded into a communicative and inspiring atmosphere.
    For further details

    Master of Science in Haemoglobinopathy
    A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
    For further details

    Orphan Academy 2011 programme
    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details


    What's on Where?

    The 11th Annual International Gene Forum 2011
    Date: 10-11 June 2011
    Venue: Tartu, Estonia

    The 11th Gene Forum 2011 will bring together experts from Europe and US for discussion of the progress in the field of genetics and in particular, on interdisciplinary areas within human genetics, epigenetics, modern population genetics, biomedical informatics and personal medicine. The conference incorporates also an exhibition aimed at the biotechnology-related companies. Sessions specific to rare diseases figure on the agenda.
    For further details

    11th EUROCAT Symposium on Congenital Anomalies
    Date: 17 June 2011
    Venue: Antwerp, Belgium

    The 11th European EUROCAT symposium on congenital anomalies will focus on the prevention, registration and care of congenital anomalies. Main topics include prenatal and preconceptional care; environmental risk; and long term outcome.
    For further details

    9th International Prenatal Screening Group Congress
    Date: 19-21 June 2011
    Venue: Barcelona, Spain

    This congress brings together laboratory providers, researchers, maternal foetal medicine specialists, geneticists and others interested in the provision of prenatal screening. The meeting will expand on the past meetings of the International Down Syndrome Screening Group through the inclusion of screening for disorders with a Mendelian pattern of inheritance and other single gene disorders, identification through maternal serum biochemical markers, foetal nucleic acids in maternal circulation and ultrasound, early detection of pregnancy complications and other conditions.
    For further details

    Eighth European Cytogenetics Conference
    Date: 2-5 July 2011
    Venue: Porto, Portugal

    This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other.
    For further details

    VI Cornelia de Lange Syndrome World Conference
    Date: 27-31 July 2011
    Venue: Copenhagen, Denmark

    Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
    For further details

    Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
    Date: 30 August – 02 September 2011
    Venue: Geneva, Switzerland

    The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
    For further details

    European Conference on Post Polio Syndrome
    Date: 31 August – 02 September 2011
    Venue: Copenhagen, Denmark

    This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
    For further details

    15th International Workshop on Fragile X and Early-Onset Cognitive Disorders
    Date: 4-7 September 2011
    Venue: Berlin, Germany

    Topics include: Everything you always wanted to know about Fra(X); Novel causes of X-linked intellectual disability (XLID); Autosomal dominant and recessive forms of ID; ID syndromes: clinical, neurological and neuro-anatomical findings; Functional studies, animal models, emerging pathways; Population-specific and epidemiological aspects; Diagnosis, carrier detection and therapy; Molecular links between cognitive and behavioural disorders; Genetic determinants of intelligence, and much more. Deadline for abstract submission: 10 June 2011.
    For further details

    3rd International Symposium on Pheochromocytoma and Paraganglioma
    Date: 14-17 September 2011
    Venue: Paris, France

    An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside. Deadline for abstract submission: 28 May 2011
    For further details

    18th Pediatric Rheumatology European Society Congress (PRES2011)
    Date: 14-18 September 2011
    Venue: Bruges, Belgium

    Offering a venue for continued education, the sharing of new research developments, and fostering academic collaboration, for clinicians, trainees, scientists and allied health professionals in the field of paediatric rheumatology. The scope of PRES2011 includes genetics, etiopathogenesis, clinical innovations and recent advances in treatment covering a wide spectrum of both common and rare rheumatic diseases in children. Deadline for abstract submission: 16 May 2011
    For further details

    5th International Conference on Birth Defects and Disabilities in the Developing World
    Date: 24-27 September 2011
    Venue: Lodz, Poland

    The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
    For further details

    Pharmaceutical Pricing and Reimbursement Information Conference 2011
    Date: 29-30 September 2011
    Venue: Vienna, Austria

    The WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies in Vienna invites participants to discuss pharmaceutical policies and their practical implementation in the light of current challenges such as the economic crisis with high ranking experts and policy makers. The main topics of the conference are pricing and reimbursement of medicines in the in- and out-patient sector, interface management and the rational use of medicines from a comprehensive, international and European perspective. Orphan Drugs will be subject to several discussions.
    For further details

    12th International Congress of Human Genetics
    Date: 11-15 October 2011
    Venue: Montreal, Canada

    The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
    For further details

    Tuberous Sclerosis Complex Scientific Day
    Date: 14 October 2011
    Venue: Paris, France

    This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
    For further details

    Rare 2011: The Eurobiomed Meetings on Rare Diseases
    Date: 2-4 November 2011
    Venue: Montpelier, France

    This French-language event features an English-language “European Day” co-hosted by Eurobiomed and the European Union Committee of Experts on Rare Diseases (EUCERD) that will explore shared data to improve healthcare management for rare diseases.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details

    Sanfilippo Foundation Switzerland International Congress
    Date: 8-10 December 2011
    Venue: Geneva, Switzerland

    “Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details


    Press & Publications

    Pachyonychia congenita : review and original articles from the 2010 meeting of the International PC Consortium
    The Journal of Investigative Dermatology presents a collection of papers that detail the major clinical, diagnostic, mechanistic, and therapeutic advances that have emerged in recent years that were presented at the annual meeting of the International Pachyonychia Congenita Consortium (IPCC) in May 2010.
    Read the PubMed abstract

    Birth Defects Research journal highlights the activities of EUROCAT
    EUROCAT, the European network of population-based registries for the epidemiologic surveillance of congenital anomalies, has published a series of papers in a special issue of the journal Birth Defects Research. Amongst the interesting articles are the EUROCAT Public Health Indicators for Congenital Anomalies in Europe and the EUROCAT Data Quality Indicators for Population-Based Registries of Congenital Anomalies.
    Learn more

    Rare Tumors In Children and Adolescents
    This is the first book devoted exclusively to rare tumours in children and adolescents. It provides up-to-date information on diagnosis and clinical management. The authors are a multidisciplinary group of specialists dedicated to rare tumours.
    Title: Rare Tumors In Children and Adolescents
    Authors: DT Schneider, IB Brecht, TA Olson, A Ferrari -Eds
    Publisher: Springer-Verlag, 2011
    ISBN 13: 9783642041969

    What makes a life worth living?
    The April 2011 issue of Current Problems in Pediatric and Adolescent Health Care contains a collection of free-access essays focusing on quality of life for the child with chronic medical problems. The papers gathered for this special issue range from quantitative methods for assessing quality of life to subjective experience, frequently moving, presented by the patients themselves, as well as family members and treating physicians, amongst others.
    View the table of contents


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    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, Kate Bushby, Catherine Berens, Helena Kaariainen, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Christophe Roeland

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
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