21 November 2012 print
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Editorial
 
Spain’s government declares 2013 the Spanish Year of Rare Diseases
 


The Spanish Minister of Health, Social Services and Equality, Ana Mato, has declared 2013 the Spanish Year of Rare Diseases. With this initiative, the government expects to raise knowledge and awareness for rare conditions, and establish stronger ties of mutual support. Promoting the Year of Rare Diseases in Spain will take three main lines of action:

  • The Health perspective: The National Strategy will be implemented, together with the Autonomous Communities, to promote prevention and early detection of rare diseases, as well as improving health care and the use of advanced therapies
  • The Scientific perspective: The research on rare diseases, along with the expert networks, will be promoted
  • The Social perspective: There will be information and awareness campaigns designed to improve the knowledge of rare diseases both for the general public and for health professionals
  • Learn more

     


     
    Spotlight on...
     
    OrphaNews Europe to get a new editor in January
     
    After six years of serving as Editor for OrphaNews Europe, Louise Taylor has to step down, having reached the end of the maximum six-year contract permitted under French law. Louise began working for OrphaNews six months after the newsletter launched, under the auspices of the Rare Disease Task Force, which has since been reformed into the European Union Committee of Experts on Rare Diseases (EUCERD). You have all appreciated her acute sense for picking up the news relevant to our highly diverse community, as well as her incomparable style rendering complex information understandable and interesting. She could be a successful novelist! The EUCERD secretariat team will miss her very much. Louise takes this occasion to address a brief message to the readers of OrphaNews Europe:

    It has been a privilege to serve the rare disease community via the OrphaNews Europe newsletter these past years, reporting on the initiatives of women and men all over the world who devote their talents, energy and time to understanding and treating rare diseases. I have watched stakeholders fight incessantly to improve conditions for patients and their families by drafting and introducing legislation, creating and expanding research networks, building patient organisations, campaigning to raise awareness, and developing treatments. At a time when the world is weary from news of crises and corruption, the rare disease community blows strong like a much-needed breath of fresh air, bringing hope, optimism, transparence and real change to those often unable to fend for themselves. I particularly thank Ségolène Aymé for providing an example of courage, determination and sheer hard work.



    Happily, Louise will not be too far away from her friends at the EUCERD and Orphanet, as she will continue working here at the rare disease platform in Paris, for European rare disease patient organisation alliance EURORDIS. The readers of OrphaNews thank Louise for her outstanding contribution to the better understanding of the field of rare diseases and orphan drugs, and wish her success in her new position.

     


     
    National & International Policy Developments
     
    Assessing health needs for neural tube defects in Argentina using the Born Healthy toolkit
     
    In the 28 March 2012 issue of OrphaNews Europe, the launch of the Born Healthy community portal was announced (learn more). Born Healthy was developed by the UK-based Foundation for Human Genomics and Population Health (PHG Foundation) in response to the need for developing countries to focus on reducing and treating birth defects in their populations and offers a freely available toolkit for gathering knowledge on birth defects and the measures that can prevent or treat them. The Health Needs Assessment toolkit includes conditions such as Congenital Heart Disease; Congenital Hypothyroidism; Sickle cell disease; Thalassemias; Rhesus Haemolytic disease; Glucose-6-phosphate dehydrogenase deficiency; Foetal alcohol spectrum disorder; Teratogens; Congenital rubella; and Congenital syphilis. A new article appearing in the Journal of Community Genetics describes the experience of researchers in Argentina utilising the toolkit for assessing health needs for neural tube defects in the country. Neural tube defects (NTDs) are birth defects involving the central nervous system caused by incomplete closure or malformation of the neural tube. They include spina bifida, encephalocoele, and anencephaly. Through the process of the Health Needs Assessment (HNA), the authors were able to identify several areas for improvement related to NTDs, including increasing coverage of the national congenital anomalies registry to obtain more precise data; improving professional education; implementing universal, free prenatal screening as well as NTD surgery; decriminalising pregnancy terminations in the case of major birth defects; and public awareness activities, including preventive folic acid intake. The authors found the HNA Toolkit effective in that it “brought together people working on the same issue, and it engaged and motivated experts and stakeholders in working to tackle the problem. Also, it allowed collaborative work to be undertaken with people located in Brazil and Uruguay simultaneously on similar goals, providing users of the Toolkit with the unique opportunity to also learn from each other”. Reported drawbacks included the English-language only interface and the amount of time needed to perform the assessment.
    Consult the PubMed abstract
    Learn more about Born Healthy

     
    New UK report asserts that rare diseases are frequently neglected or misdiagnosed and that treatment and services are not evenly available
     
    A new report entitled Forgotten Conditions: Misdiagnosed and Unsupported, How Patients are Being Let Down issuing from a roundtable of stakeholders from government, academia, and medicine held in June 2012, finds that low prevalence disorders are little understood and frequently misdiagnosed in the United Kingdom. The report also evokes the “postcode lottery” rare disease patients face, in which access to service and treatment depends upon the part of the UK in which one resides, with patients in Wales and Scotland enjoying greater access for certain conditions than those in England. The report offers several recommendations to remedy the current state of affairs, including: developing shared care pathways for best practice clinical guidance and expertise; education for medical students that broadens the scope of rare disease diagnostics; harnessing new technology to improve diagnostics; encouraging and supporting self-diagnosis and self-care for patients; and ensuring that the National Commissioning Board takes rarer conditions into account when developing guidance for Clinical Commissioning Groups. Learn more

    In related news, an article appearing in the Orphanet Journal of Rare Diseases applies the Systematic Component of Variation (SCV) in order to look at access to nationally commissioned services in England, particularly for highly specialised healthcare, generally affecting fewer than 500 people in England or involving services where “fewer than 500 highly specialised procedures are undertaken each year”. Centralising specialised services in a few centres ensures a volume high enough to maintain excellence, although there is an obligation to ascertain that patients geographically far from such centres are not disadvantaged. The authors applied the Systematic Component of Variation, taking “access” (measured as “service use”) in order to study access to services commissioned by the National Specialised Commissioning Team (NPCT) in England. The results of this study suggest that “…equity of access can usually be achieved at about five years after establishing a service, and this is not dependent, within the geography of England, on the number of centres designated”. Learn more

     
    Other European news
     
    E-patients, e-parents, e-doctors: web opportunities and risks workshop helps Italian stakeholders use Internet tools for sharing rare disease information
     

    The Italian Telethon Foundation and Orphanet-Italy joined their respective competences and contact networks to help improve meeting patient needs and supporting health professionals via a training course entitled e-patients, e-parents, e-doctors: le malattie rare via web – opportunità e rischi. Suited for all stakeholders of the rare disease community, the event provided an opportunity to discuss web services and social networks as tools for professionals, patients and their families. During the course, health professionals, journalists, and IT experts presented their experiences to guide the community in using the Web as a tool to break the isolation rare diseases can impose. The course was held at the new auditorium of the Bambino Gesù Paediatric Hospital. During the first session, patient organisations shared their experiences. A round table in the second session was animated by communication experts on the responsible use of the Internet. The Telethon scientific director, Pr Lucia Monaco, stressed the importance of collaborating with Orphanet in order to access up-to-date and validated information and to facilitate the work of the helpline operations in answering patient requests.
    Consult the event programme

     
    Perception of rare diseases by Primary Care Physicians in Spain
     
    A Spanish-language study conducted by the rare disease task force of the Spanish Society of Primary Care Physicians (SEMERGEN) between 2008 and 2010 sought to identify the perception that primary health care physicians have towards rare diseases. Some 260 cross-sectional anonymous surveys, completed by primary health care physicians, explored socio-demographic data, health care facilities, manpower, and services, knowledge level, expectations, means of obtaining available information, and training support preferences for rare diseases. The results show that there is limited knowledge of rare diseases amongst general practitioners, despite of a high level of interest. Less than one-fourth of respondents reported having a specific training activity. The survey results emphasise “… primary prevention, the importance of the family environment, genetic counselling and health education”. Primary care physicians overwhelmingly rely on the Internet as a main source of information for rare diseases, and a need for specific continuing education training was noted.
    Consult the PubMed abstract (in English)

     
    Guidance Documents and Recommendations
     
    Family management guide for congenital muscular dystrophy available in Spanish; translations underway in a dozen other languages
     

    A family guide for congenital muscular dystrophy (CMD) treatment summarising an international consensus developed with recommendations from international experts in the areas of pathology, neurology, pulmonary, gastrointestinal, orthopaedics, palliative care and more, was published in English language in December 2011. Following a call from Network of Excellence Treat-NMD and Cure CMD for volunteers to translate the guide, versions are underway in over a dozen languages, including Chinese, Czech, Danish, French, German, Greek, Italian, Japanese, Latvian, Macedonian, Norwegian, Persian, Portuguese, Serbian, Spanish, and Turkish. The first of these, in Spanish, is now available and others are expected soon. The guides can be found on the website of non-profit organisation Cure CMD.
    Learn more

     
    Bioinformatics, Registries and Data Management
     
    Human Mutation focuses on neurogenetics databases
     
    A Special Issue of Human Mutations appearing in September 2012 focuses on databases for neurogenetics. Amongst the open-access articles included in this issue are: Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias; The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics ; ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics; Toward a mtDNA locus-specific mutation database using the LOVD platform; Spinocerebellar ataxias: An example of the challenges associated with genetic databases for dynamic mutations; and Ontological phenotype standards for neurogenetics.
    Consult the table of contents

     
    Controversy in genetic testing: Privately owned genetic databases may hinder diagnosis
     
    In a paper published in the European Journal of Human Genetics, last month, the authors show that Myriad Genetics, providers of the BRCA1/2 genetic test, has amassed vast quantities of clinical data without sharing it. This practice, according to the authors, is denying researchers, physicians and patients access to "basic scientific and medical information" that would improve their knowledge of variants linked to cancer and enable more accurate diagnoses. In response to this publication, Professor Martina Cornel, chair of the European Society of Human Genetics' Professional and Public Policy committee, has expressed concerns:

    "We are very concerned that such important data is being withheld from those who most need it. (…) By not sharing their data on the [variants of unknown significance (VUS)] obtained from individuals undergoing BRCA1/2 testing, where Myriad is the sole commercial provider of a test in the US, geneticists have been unable to develop the up-to-date algorithms that are necessary to best interpret the effects of genetic variants. … We know that, regrettably, medical geographic inequities are common, but what is particularly worrying about this situation is that it is the first time that such inequities have been based on a lack of access to clinical information, rather than lack of a product. Myriad’s stated aim to enter the European market more vigorously may lead to unfair competition with academic institutions for predictive precision. It is vital that progress towards personalised medicine, which holds out so much promise, is not hindered by companies maintaining private genomic databases. Policymakers should take an urgent look at the regulatory and reimbursement issues involved in genomic testing in order for all the data that is essential to understanding the clinical significance of VUS to be made public, to the benefit of patients and healthcare providers alike”.

    Access to genetic data is especially critical to the field of rare diseases, where understanding of diseases already suffers from small, scattered patient populations and a general lack of resources.
    Learn more

     
    Screening and Testing
     
    New website helps healthcare professionals identify early signs of paediatric muscle weakness and neuromuscular disease
     

    The National Task Force for Early Identification of Childhood Neuromuscular Disorders in collaboration with the United States Centers for Disease Control and Prevention (CDC) has developed a web-based diagnostic tool that can assist primary physicians as well as healthcare providers in rehabilitation, physical and occupational therapy to identify, evaluate, and diagnose children between six months and five years of age with motor delay. According to the ChildMuscleWeakness.org website, the average age at diagnosis for conditions such as Duchenne muscular dystrophy is five years, even though parents discern symptoms in their children as early as two years. The ChildMuscleWeakness.org hopes to contribute to earlier diagnostics via online tools for clinical evaluation and for recognising early signs of neuromuscular disease. Learn more


     


     
    Ethical, Legal & Social Issues
     

     
    How to reduce bureaucracy while preserving the necessary ethics processes in rare paediatric disease studies?
     
    An article appearing in the Archives of Diseases in Childhood takes the experience of the Eurofever registry, which collects information on the clinical presentation, outcome and response to treatment of patients affected by autoinflammatory diseases in childhood, and worldwide non-profit network the Paediatric Rheumatology International Trials Organization (PRINTO) to demonstrate how the ethics review process for studying medicinal products in children may, ironically, cause more harm than good. Recently introduced legislation around clinical studies involving children aims to ensure that drugs are adequately formulated for the specific profiles of paediatric populations. The authors of this interesting study describe examples of lengthy and costly bureaucratic problems encountered in implementing an academic clinical trial for rare disease juvenile dermatomyositis involving off-label drugs used in current clinical practice worldwide, as well as a non-interventional registry study that required ethical committee approval for entering patients into the registry. The authors contend that change is needed to overcome excessive bureaucratic hurdles because “from the perspective of the patient it is clear that spending 2 years on getting approval for uncontroversial research, which 97% of the ethics committees authorised without requiring any further information, is a waste of valuable resources. Clinical networks depend on voluntary work by devoted clinicians and have limited funding resources. Their time and resources should not be wasted on an unnecessarily bureaucratic ethics system”.
    Consult the PubMed abstract

     


     
    EU Project Follow-up
     
    CliniBook provides a reference for state-of-the-art gene transfer technology
     
    The CliniGene Network of Excellence, funded under the European Commission’s Sixth Framework Programme, created both critical mass and momentum towards high quality gene transfer research at the level of basic science and its translation into well-designed clinical trials. Now the CliniBook Clinical Gene Transfer: State of the Art has been released. According to the book description, this work, “…provides a reference for state-of-the-art gene transfer technology as of 2012 and the different aspects of its clinical translation with a focus on European-based initiatives. As examples of successful outcomes, recent clinical trials are presented together with ethical, safety and legal issues, which are discussed. The broad range of various technologies is covered whether addressing direct in vivo gene transfer like with AAV, Adeno or non-viral vectors or ex-vivo genetically engineered cells - including induced pluripotent stem cells (iPS) - with integrating vectors such as retrovirus, lentivirus or transposon-derived vectors. The critical path to clinical implementation is covered, describing currently available tools - such as molecular imaging, ex-vivo organ cultures and high-throughput technologies - used for evaluation of criteria towards a go-or-no go decision to move to the clinic; in addition, utmost salient biosafety and immunotoxicology aspects are discussed”.

    Of interest to researchers, clinical investigators, regulators, patients' advocacy groups and policy-makers, this work provides state-of-the-art information as well as emerging prospects - including gene targeting and homologous recombination - for gene transfer intended for clinical translation.
    Learn more

     


     
    Orphanet News
     
    New Texts
     
    Three new rare disease emergency guidelines available in English
     
    Orphanet provides rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. New guidelines are now available in English for:
    Central diabetes insipidus
    Alpha-1 antitrypsin deficiency
    Type 1 autoimmune polyendocrinopathy

     


     
    New Syndromes
     

     
    An autosomal recessive congenital cerebellar ataxia associated with mutations in the metabotropic glutamate receptor mGluR1
     
    The authors described patients from 5 Roma families presenting with an autosomal recessive congenital cerebellar ataxia whose clinical features can be summed up as global developmental delay, infantile onset of moderate to severe gait and stance ataxia, dysarthria, mild dysdiadochokinesia, dysmetria and tremor, intellectual deficit of variable severity, and mild pyramidal signs mostly localized in lower limbs. Different ocular disorders (gaze-induced horizontal nystagmus, hypometric saccades, mild abduction deficits, strabismus, and ptosis), varying from one case to another, are also observed. Brain-imaging notably shows moderate to marked generalized cerebellar atrophy with or without inferior vermian hypoplasia and/or a constitutionally small brain. This cerebellar atrophy seems to be progressive and so is the severity of ataxia. The relationship found between this phenotype and GRM1 mutations implicates the metabotropic glutamate receptor mGluR1in human hereditary ataxia
    Consult the PubMed abstract

     
    Am J Hum Genet ; 553-64 ; 7 September 2012
     
    Early-onset Lafora body disease associated with an excessive sequestration of laforin and malin in nucleus
     
    Examining three siblings the authors identified a new progressive myoclonus epilepsy associated with Lafora bodies that they name early-onset Lafora body disease. It occurs at the age of 5 and is characterized by dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia, and spasticity. The disease progresses in the form of a typical progressive myoclonus epilepsy evolving more slowly than Lafora disease, patients living into the fourth decade. However, there is variability between these three patients. One has a milder presentation. He had early speech difficulties, but developed the rest of the symptoms only in adult age. This phenotype is associated with a PRDM8 mutation resulting in an excessive sequestration of laforin and malin in nucleus and therefore in a deficiency of both proteins in cytoplasm.
    Consult the PubMed abstract

     
    Brain ; 2684-98 ; September 2012
     
    Susceptibility to EV-HPV infections induced by T cell defects
     
    The authors investigated 2 young adult siblings born to first-cousin parents and presenting a phenotype related to but distinct from epidermodysplasia verruciformis. They have since childhood suffered from various infectious diseases like persistent cutaneous lesions due to betapapillomavirus (EV-HPVs) and other clinical manifestations including bronchopulmonary disease and Burkitt lymphoma in one patient. They are homozygous for a RHOH mutation that manifests as T cell defects given that their circulating T cells contain essentially effector memory T cells exhibiting impaired TCR signaling. In addition, very few circulating T cells expressed the β7 integrin subunit which directs T cells to specific tissues.
    Consult the PubMed abstract

     
    J Clin Invest ; 3239-47 ; 4 September 2012
     
    Paraganglioma with polycythemia in two women: may be a new syndrome due to somatic HIF2 mutations
     
    Two novel somatic mutations in HIF2A have been identified by the authors from the examination of two unrelated women. Both received a diagnosis of polycythemia during childhood and both have recurrent paragangliomas. Somatostatinomas were also found in one of them at the time of surgical intervention. The authors think that the clinical features exhibited by these women may represent a syndrome resulting from gain-of-function HIF2A mutations.
    Consult the PubMed abstract

     
    N Engl J Med ; 922-30 ; 6 September 2012
     
    Lateral tibial and distal fibular bowing with short stature in two siblings
     
    The authors report on two siblings with severe lateral tibial bowing, short stature, and mild distal fibular bowing. Bilateral abnormalities of the distal tibial metaphysis, epiphyses, and growth plates are also observed as well as anomalies of ankles and feet including abnormally high arches and dorsiflexion of the calcanea. There are some differences between the two sisters. Tibial and fibular bowing is unilateral in the older sibling while it is bilateral and more severe in the younger one, who had left-sided distal tibial metaphyseal pseudoarthrosis which spontaneously healed with time. The older sibling also has an autism spectrum disorder. The tibial bowing became apparent at 2 years of age in the older sib and later (3-4 years of age) in the younger one. The severity of the bowing together with the other anomalies of distal tibial ends and feet encourage the authors to conclude that these children suffer from an as yet undescribed syndrome.
    Consult the PubMed abstract

     
    Am J Med Genet A ; 2309-16 ; September 2012
     


     
    New Genes
     

     
    Amelogenesis imperfecta: C4orf26 mutations are a major cause and provide new insights into biomineralization
     
    Consult the PubMed abstract
     
    To read more about "Amelogenesis imperfecta"

     
    Am J Hum Genet ; 565-71 ; September 2012
     
    Walker-Warburg syndrome: GTDC2 mutations impair α-dystroglycan glycosylation in zebrafish
     
    Consult the PubMed abstract
     
    To read more about "Walker-Warburg syndrome"

     
    Am J Hum Genet ; 541-7 ; September 2012
     
    Torg-Winchester syndrome: MT1-MMP mutations result in an osteolysis related to but distinct from the condition induced by MMP2 mutations
     
    Consult the PubMed abstract
     
    To read more about "Torg-Winchester syndrome"

     
    Am J Hum Genet ; 572-6 ; September 2012
     
    Achromatopsia: a PDE6H mutation identified in an incomplete form with preserved short-wavelength-sensitive cone function
     
    Consult the PubMed abstract
     
    To read more about "Achromatopsia"

     
    Am J Hum Genet ; 527-532 ; September 2012
     
    Bilateral polymicrogyria: RTTN mutations link primary cilia function to organization of the human cerebral cortex
     
    Consult the PubMed abstract
     
    To read more about "Bilateral polymicrogyria"

     
    Am J Hum Genet ; 533-40 ; September 2012
     
    Familial multiple meningioma: a role for the SUFU gene previously associated with childhood medulloblastoma predisposition
     
    Consult the PubMed abstract
     
    To read more about "Familial multiple meningioma"

     
    Am J Hum Genet ; 520-6 ; September 2012
     
    Autosomal dominant spastic ataxia: a VAMP1 mutation suggests involvement of this gene in ataxia and spastic paraplegia, at least in Newfoundland families
     
    Consult the PubMed abstract
     
    To read more about "Autosomal dominant spastic ataxia"

     
    Am J Hum Genet ; 548-52 ; September 2012
     
    Catel-Manzke syndrome: IMPAD1 mutations identified in a like-form including additional features
     
    Consult the PubMed abstract
     
    To read more about "Catel-Manzke syndrome"

     
    Am J Med Genet A ; 2183-7 ; September 2012
     
    Brown-Vialetto-van Laere syndrome: SLC52A2 mutation found in a delayed, slowly progressive form
     
    Consult the PubMed abstract
     
    To read more about "Brown-Vialetto-van Laere syndrome"

     
    Brain ; 2875-82 ; September 2012
     
    Autosomal recessive nonsyndromic sensorineural deafness type DFNB: TSPEAR mutations identified in a new deafness locus
     
    Consult the PubMed abstract
     
    To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

     
    Hum Mol Genet ; 3835-44 ; 1 September 2012
     
    Isolated punctate palmoplantar keratoderma: identification of a likely causal mutation in COL14A1
     
    Consult the PubMed abstract
     
    To read more about "Isolated punctate palmoplantar keratoderma"

     
    J Med Genet ; 563-8 ; September 2012
     
    Isolated succinate-CoQ reductase deficiency: first example of SDHB involvement into a primary mitochondrial disease
     
    Consult the PubMed abstract
     
    To read more about "Isolated succinate-CoQ reductase deficiency"

     
    J Med Genet ; 569-77 ; September 2012
     
    Autosomal dominant hereditary woolly hair with hypotrichosis: first KRT71 mutation involved in a human familial hair disorder
     
    Consult the PubMed abstract
     
    J Invest Dermatol ; 2342-9 ; October 2012
     
    Usher syndrome: an ABHD12 mutation found in a family with type 3-like form that can be confused with PHARC
     
    Consult the PubMed abstract
     
    To read more about "Usher syndrome"

     
    Orphanet J Rare Dis ; 59 ; 2 September 2012
     
    Porokeratotic eccrine ostial and dermal duct nevus may be caused by mosaic GJB2 mutations coding for the gap junction protein connexin26
     
    Consult the PubMed abstract
     
    To read more about "Porokeratotic eccrine ostial and dermal duct nevus"

     
    J Invest Dermatol ; 2184-91 ; September 2012
     


     
    Research in Action
     

     
    Rare disease research revealing Nature’s secrets
     
    In the Editorial article of the October 2012 issue of Science Translational Medicine, the newest journal from the American Association for the Advancement of Science (AAAS), William A. Gahl, director of the Undiagnosed Diseases Program at the National Institutes of Health (NIH) in the USA, discusses a field in which “uncommon insights are common” and describes how research into the science of rare diseases is providing “a better understanding of common disorders, universal mechanisms, critical pathways, and therapies that are useful for treating more than one disease”.
    Consult the PubMed abstract

     
    Fundamental Research
     
    Distal renal tubular acidosis: Atp6v0a4 knockout mouse recapitulates the loss of H+-ATPase function seen in human disease
     
    Consult the PubMed abstract
     
    To read more about "Distal renal tubular acidosis"

     
    PNAS ; 13775-80 ; 21 August 2012
     
    Duchenne muscular dystrophy: E2F1 deficiency improves muscle performance through increased oxidative metabolism in mouse model
     
    Consult the PubMed abstract
     
    To read more about "Duchenne muscular dystrophy"

     
    Hum Mol Genet ; 3910-7 ; 1 September 2012
     
    Fetal valproate syndrome: acid valproic induces transcriptional deregulation and disturbs neural differentiation in human embryonic stem cells
     
    Consult the PubMed abstract
     
    To read more about "Fetal valproate syndrome"

     
    Hum Mol Genet ; 4104-14 ; 15 September 2012
     
    Muscle filaminopathy: a novel zebrafish model resulting from a nonsense mutation in one of the two zebrafish filamin C homologues
     
    Consult the PubMed abstract
     
    To read more about "Muscle filaminopathy"

     
    Hum Mol Genet ; 4073-83 ; 15 September 2012
     
    Clinical Research
     
    Thalassemia: iron chelator deferasirox significantly reduces iron overload in nontransfusion-dependent patients
     
    Consult the PubMed abstract
     
    To read more about "Beta-thalassemia intermedia"
    To read more about "Alpha-thalassemia"
    To read more about "Hemoglobin E - beta-thalassemia"

     
    Blood ; 970-7 ; 2 August 2012
     
    Acute myeloid leukemia: gemtuzumab ozogamicin as postconsolidation therapy does not prevent relapse in children
     
    Consult the PubMed abstract

     
    To read more about "Acute myeloid leukemia"

     
    Blood ; 978-84 ; 2 August 2012
     
    Anaplastic thyroid carcinoma: pazopanib monotherapy demonstrates minimal activity in cases with advanced disease
     
    Consult the PubMed abstract
     
    To read more about "Anaplastic thyroid carcinoma"

     
    J Clin Endocrinol Metab ; 3179-3184 ; September 2012
     
    Acute lymphoblastic leukemia: complete remission with imatinib associated with intensive chemotherapy in a Philadelphia-chromosome-positive form
     
    Consult the PubMed abstract
    Consult this study on the Orphanet web portal

     
    To read more about "Acute lymphoblastic leukemia"

     
    Lancet Oncol ; 936-45 ; September 2012
     
    Glycogen storage disease due to acid maltase deficiency: the emerging phenotype of long-term survivors with infantile form due to enzyme replacement therapy
     
    Consult the PubMed abstract
     
    To read more about "Glycogen storage disease due to acid maltase deficiency"

     
    Genet Med ; 800-10 ; September 2012
     
    Amyotrophic lateral sclerosis: evidence for an oligogenic aetiology in familial and sporadic forms
     
    Consult the PubMed abstract
     
    To read more about "Amyotrophic lateral sclerosis"

     
    Hum Mol Genet ; 3776-84 ; 1 September 2012
     
    Ataxia-telangiectasia: oral betamethasone could be a promising therapy to relieve ataxia symptoms according to a controlled study
     
    Consult the PubMed abstract
     
    To read more about "Ataxia-telangiectasia"

     
    Mov Disord ; 1312-6 ; 1 September 2012
     
    Stem Cells
     

     
    Congenital tracheal stenosis: airway still functional 2 years after a stem-cell-based tracheal replacement in a patient
     
    Consult the PubMed abstract
     
    To read more about "Congenital tracheal stenosis"

     
    Lancet ; 994-1000 ; 1 September 2012
     
    Proximal spinal muscular atrophy: functional and stable integration of amniotic fluid stem cells into the skeletal muscle of a mouse model
     
    Consult the PubMed abstract
     
    To read more about "Proximal spinal muscular atrophy"
    To read more about "Muscular dystrophy"

     
    Stem Cells ; 1675-84 ; August 2012
     
    Gene Therapy
     
    Stargardt disease: persistent ABCA4 transgene expression with functional and structural improvement in mice using DNA nanoparticles
     
    Consult the PubMed abstract
     
    To read more about "Stargardt disease"

     
    J Clin Invest ; 3221-6 ; 4 September 2012
     
    Kennedy disease: early silencing of CELF2 through miRNA overexpression ameliorates the motor impairment of mice model
     
    Consult the PubMed abstract
     
    To read more about "Kennedy disease"

     
    Nat Med ; 1136-41 ; July 2012
     
    Therapeutic Approaches
     
    Frontotemporal dementia with motor neuron disease: autophagy activators rescue and/or slow down the pathogenesis of mouse model
     
    Consult the PubMed abstract
     
    To read more about "Frontotemporal dementia with motor neuron disease"

     
    PNAS ; 15024-9 ; 11 September 2012
     
    Huntington disease: single-stranded siRNAs inhibit mutant HTT expression in patient-derived cells and model mice
     
    Consult the PubMed abstract
     
    To read more about "Huntington disease"

     
    Cell ; 895-908 ; 31 August 2012
     
    Amyotrophic lateral sclerosis: modulating inflammatory monocytes profile slows disease progression and attenuates neuronal damage in a mouse model
     
    Consult the PubMed abstract
     
    To read more about "Amyotrophic lateral sclerosis"

     
    J Clin Invest ; 3063-87 ; 4 September 2012
     
    Achondroplasia and thanatophoric dysplasia: efficiency of PTH treatment against delayed skeletal development and postnatal lethality in mouse
     
    Consult the PubMed abstract
     
    To read more about "Achondroplasia"
    To read more about "Thanatophoric dysplasia"

     
    Hum Mol Genet ; 3941-55 ; 15 September 2012
     
    Diagnostic Approaches
     

     
    Osteogenesis imperfecta: determination of pigment-epithelium derived factor (PEDF) serum levels helps to diagnose the type VI
     
    Consult the PubMed abstract
     
    To read more about "Osteogenesis imperfecta"

     
    J Clin Endocrinol Metab ; E1550-6 ; August 2012
     


     
    Patient Management and Therapy
     

     
    Congenital heart malformations: an increased risk of neurodevelopmental disorders necessitating a pediatric surveillance
     
    Consult the PubMed abstract
     
    To read more about "Congenital heart malformation"

     
    Circulation ; 1143-1172 ; 28 August 2012
     
    Transthyretin cardiac amyloidosis: an underappreciated contributor to heart failure in elderly patients
     
    Access the article via Pubmed
     
    To read more about "Transthyretin-related familial amyloid cardiomyopathy"
    To read more about "Familial amyloid polyneuropathy"

     
    Circulation ; 1286-300 ; 4 September 2012
     
    Hodgkin lymphoma in adults: a management review with a focus on late effects of treatment
     
    Consult the PubMed abstract
     
    To read more about "Hodgkin lymphoma"
    To read more about "Hodgkin lymphoma, classical"
    To read more about "Nodular lymphocyte predominant Hodgkin lymphoma"

     
    Lancet ; 836-47 ; 1 September 2012
     
    A review of non-Hodgkin lymphoma
     
    Consult the PubMed abstract
     
    To read more about "Non-Hodgkin lymphoma"

     
    Lancet ; 848-57 ; 1 September 2012
     
    Melioidosis: recent developments in pathogenesis, diagnostics, and treatment
     
    Access the article via Pubmed
     
    To read more about "Melioidosis"

     
    N Engl J Med ; 1035-44 ; 13 September 2012
     
    Complex I deficiency: clinical features, biochemistry and molecular genetics
     
    Consult the PubMed abstract
     
    J Med Genet ; 578-90 ; September 2012
     


     
    Orphan Drugs
     

     
    Regulatory News
     
    Two treatments for chronic myelogenous leukaemia approved in the USA
     
    In the USA, the Food and Drug Administration (FDA) recently approved Synribo (omacetaxine mepesuccinate) to treat adults with chronic myelogenous leukaemia. Synribo is intended to be used in patients whose cancer progressed after treatment with at least two tyrosine kinase inhibitors. Synribo (Teva Pharmaceuticals) was approved under the FDA’s accelerated approval programme. In September, the FDA approved Bosulif (bosutinib) to treat patients with chronic, accelerated or blast phase Philadelphia chromosome positive chronic myelogenous leukaemia who are resistant to or who cannot tolerate other therapies. Bosulif is manufactured by Pfizer, Inc.
     
    13 positive opinions recommending orphan designation at the November COMP meeting
     

    The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 13 positive opinions recommending orphan designation at the November 2012 COMP meeting for the treatment of:

    - peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated)
    - acromegaly
    - non-infectious uveitis
    - chronic lymphocytic leukaemia
    - perinatal asphyxia
    - malaria
    - lead toxicity
    - Duchenne muscular dystrophy (2 products)
    - chronic lymphocytic leukaemia
    - malignant mesothelioma
    - long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    - very long-chain acyl-CoA dehydrogenase deficiency

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

     
    Political and Scientific News
     
    A comparison of Health Technology Assessment processes for orphan drugs in five different countries reveals significant variability
     
    As European Union experts seek to facilitate the process of bringing orphan medicinal products to the market, with the most recent contribution being the European Union Committee of Experts on Rare Diseases (EUCERD) Recommendation Improving Informed Decisions Based on the Clinical Added Value of Orphan Medicinal Products (CAVOMP) Information Flow (learn more), a newly-published study appearing in the journal Health Policy reveals a “substantial level of disparity in the [Health Technology Assessment] HTA recommendations issued for pharmaceuticals”. Comparing HTA methods between five countries (Australia, Canada, England, Scotland, and Sweden), the study suggests that HTA methods may be “influenced by different priorities in individual settings, different preferences based on individual settings and therapeutic area, levels of hierarchies in evidence, perceptions of value, tools used to address uncertainty, and the ability and willingness or not to consider and implement risk sharing agreements”. The authors call for more research into the impact of submitted evidence on the assessment processes in different therapeutic areas. The study, which looked at three therapeutic areas – cancer, orphan medicines, and central nervous system treatments - revealed significant disparities in coverage recommendations between the countries examined and a consequent impact on access to treatment.
    Learn more

     
    Do the incentives to develop orphan drugs have undesirable side-effects?
     
    An article appearing in the Annals of Neurology describes possible “unintended effects” of orphan drug legislation introduced to stimulate the development of medicinal products for rare diseases. Stakeholders generally agree that the orphan drug legislation has spurred treatment development for rare diseases in Europe and the USA. The authors cite certain “paradoxical effects” that may, however, hamper access to treatments, including extended market exclusivity, which the authors assert has been associated with “unacceptably high drug costs”.
    Consult the PubMed abstract

     
    A review of the first decade of Europe’s Orphan Drug Regulation identifies areas for improvement
     
    The authors of an article appearing in the European Journal of Clinical Pharmacology review the first decade of Regulation (EC) No 141/2000 (the Orphan Drug Regulation), which was adopted in December 1999 and came into force in the European Union in the year 2000 and seek to understand why more products have not been brought to the market in the past decade. While some 80% of orphan drug designation applications received a positive opinion from the European Medicines Agency's Committee for Orphan Medicinal Products between 2000 and 2010, less than 60% of applications for marketing authorisation were successful. The authors conclude that certain elements in the process of developing orphan medicinal products are frequently inadequate, including the number of patients included in trials, the use of placebos as controls, outcome measures, and follow-up. A call for using public funds to “bridge the gap between designation and approval” is made, along with revision of the criteria used to assess product efficacy and effectiveness.
    Consult the PubMed abstract

     


     
    Grants
     

     
    Rare Disease Science Challenge: Be HEARD offers a unique scheme to boost rare disease research by awarding donated software, reagents and consulting services
     
    An innovative new scheme sponsored by non-profit Rare Genomics Institute and research exchange network Assay Depot, involving $400,000 (€313,370) worth of donations in technology, services and resources from 19 life science companies, in addition to a $10,000 (€7,835) cash prize, seeks to advance rare disease research via the Rare Disease Science Challenge: Be HEARD (Helping Empower and Accelerate Research Discoveries). Open to international participation, the Rare Disease Science Challenge: Be HEARD is accepting research proposals from 15 October until 15 December, 2012.
    Learn more

     


     
    Courses & Educational Initiatives
     

     
    European Cytogeneticists Association Courses
     
    The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2013 course is now available.
    For further details

     
    Online 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

     
    The European School of Haematology distance learning tools
     
    The European School of Haematology (ESH) is a non-profit organisation founded in 1986. Its mission is continuous medical education in Haematology and the fields related to Haematology. ESH organises conferences throughout Europe and on other continents. It also produces distance learning tools of which many are freely available on the ESH website: These include: The Curriculum on Iron Metabolism and Related Disorders: This is a comprehensive curriculum comprising webcasted lectures, videos, interviews, round table discussions etc. The faculty is composed of distinguished international experts in the field. Webcasted conferences are also freely available on the website, including topics such as: Diagnosis and Management of Rare Anaemias; Haemoglobin Disorders: Laboratory Diagnosis and Clinical Management; World Cord Blood Congress, and more.
     
    Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
     
    The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2013 at the Goldrain Castle in South Tyrol (Italy), 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.
    For further details

     
    Orphan Academy 2012 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?
     

     
    3rd Annual World Orphan Drug Congress
     
    Date: 29-30 November 2012
    Venue: Geneva, Switzerland

    The 3rd annual World Orphan Drug Congress provides a forum for the rare disease industry. This commercial event has three dedicated tracks this year: clinical development and R&D; market access, pricing, and reimbursement; corporate development and partnerships.
    For further details

     
    Translating Genomics Conference
     
    Date: 4 December 2012
    Venue: Cambridge, UK

    Topics include: Using genomics to improve population health; Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: from dream to reality; The public health perspective on translating genomics into health benefits: more important than ever; and more.
    For further details

     
    Epposi Conference on an Optimal European Chronic Care Model: Towards Implementation and Benchmarking
     
    Date: 5 December 2012
    Venue: Brussels, Belgium

    This one day multi-stakeholder conference from the European Platform for Patients' Organisations, Science and Industry (EPPOSI) examines a proposed model for the holistic management of chronic conditions, including rare diseases, and which takes into account the medical, socio-economic as well as technology dimensions.
    For further details

     
    10th Asia-Pacific Conference on Human Genetics
     
    Date: 5-8 December 2012
    Venue: Kuala Lumpur, Malaysia

    The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities.
    For further details

     
    Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
     
    Date: 10-11 December 2012
    Venue: Brussels, Belgium

    The Symposium follows up on the recent breakthrough research on Alternating Hemiplegia of Childhood and Rapid-onset Dystonia Parkinsonism. It aims to facilitate further studies and collaborations and is intended for researchers, physicians, health professionals, private and public companies, and patient associations.
    For further details

     
    Epposi Conference on Building a Framework for Societal Benefits Approach to Health Technology Assessment
     
    Date: 4 February 2013
    Venue: Brussels, Belgium

    This one day multi-stakeholder conference from the European Platform for Patients' Organisations, Science and Industry (EPPOSI) considers issues related to building a societal benefits approach to Health Technology Assessment (HTA) and will look at the impact of innovative rare disease HTA processes.
    For further details

     
    5th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
     
    Date: 8-9 February 2013
    Venue: Milan, Italy

    Dedicated to different types of rare pulmonary diseases affecting both parenchymal and vascular structures. Knowledge exchange and dissemination among experts on different areas of clinical and basic research in respiratory medicine, with different specialised pulmonary medicine expertise (from vascular to interstitial lung diseases), is part of the stimulating challenge of providing new insights into science and clinical care, thus helping patients and supporting doctors.
    For further details

     
    3rd Annual World Orphan Drug Congress
     
    Date: 9-11 April 2013
    Venue: Washington DC, USA

    This event brings together industry, patient groups, payers and government seeking to expedite orphan drugs to patients.
    For further details

     
    First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
     
    Date: 14-17 April 2013
    Venue: Paphos, Cyprus

    Proposed topics include: Cognitive disorders (CD): Phenotype-Genotype networks; gene identification, gene networks-complex inheritance; Linking CD genes and behavioural traits to neural networks; Disease mechanisms in CD – the synapse, gene regulation, epigenetic conditions, common pathways; therapeutic intervention.
    For further details

     
    World Federation of Hemophilia 13th International Musculoskeletal Congress 2013
     
    Date: 18-21 April 2013
    Venue: Chicago, USA

    This Congress brings together world-leading orthopaedic surgeons, haematologists, and physiotherapists specialized in the treatment and care of patients with bleeding disorders. Participants will spend three days not only analyzing and discussing new medical developments but also looking at problems and issues in different parts of the world.
    For further details

     
    7th Alstrom Syndrome International Family Conference and Scientific Symposium
     
    Date: 9-13 May 2013
    Venue: Massachusetts, USA

    Medical professionals and scientists will hold Symposia on Thursday, 9 May and Saturday 11 May.
    For further details

     
    Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
     
    Date: 22- 26 May 2013
    Venue: Lausanne, Switzerland

    The meeting will offer a unique opportunity to gather experts from all over the world to discuss the latest scientific and clinical issues on different topics, including the challenges of the new treatments for autoinflammatory diseases such as familial Mediterranean fever; new monogenic autoinflammatory diseases; systemic-onset JIA; Behçet; granulomatous diseases; amyloidosis; and other conditions.
    For further details

     
    4th International DSD (Disorders of Sex Development) Symposium
     
    Date: 7-9 June 2013
    Venue: Glasgow, Scotland

    This symposium should be of interest to health care staff, clinical and basic scientists and parent & patient support groups. Plenary Sessions planned include: Priorities for the Future, Drug-based Therapeutic Interventions, Care & Communication, Navigating the Information Highway, Management of the Retained Gonad.
    For further details

     
    World Orphan Drug Congress Asia
     
    Date: 18 June 2013
    Venue: Singapore

    This one-day event will bring together orphan drug manufacturers and developers to expedite orphan drugs for patients.
    For further details

     
    The 9th European Cytogenetics Conference
     
    Date: 29 June - 02 July 2013
    Venue: Dublin, Ireland

    An opportunity for cytogeneticists to come together to discuss developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
    For further details

     
    8th International Prader-Willi Syndrome Conference
     
    Date: 17-21 July 2013
    Venue: Cambridge, UK

    An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
    For further details

     
    First International Primary Immunodeficiencies Congress (IPIC)
     
    Date: 7-8 November 2013
    Venue: Estoril, Portugal

    The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
    For further details

     


     
    Media, Press & Publications
     

     
    A balanced assessment of consanguinity around the world: Consanguinity in Context
     
    Consanguinity in Context, by Prof. Alan H. Bittles offers the reader a comprehensive, balanced overview of consanguinity - including historical, legal, medical, socioeconomic, religious and geographical perspectives. There are over 1100 million people in the world practicing some form of intra-familial union, and this book treats consanguinity like a prism – turning the subject this way and that to capture different reflections, both positive and negative. There is a chart (Fig. 14.1) in the book, which places consanguinity squarely in the middle, with different consequences of the practice, the perceived benefits and disadvantages presented above and below. Most of the negative consequences are health-related and of special interest to the rare disease community. Consanguinity in Context discusses the occurrence and consequences of autosomal recessive monogenic disorders associated with consanguineous marital practice as well as the related themes of genetic screening, education and counselling. Packed with fascinating facts on the history of consanguinity, and statistics comparing practices and resources between countries, Consanguinity in Context makes for “must read” material on a complex, often controversial, issue.

    Title: Consanguinity in Context
    Author : Alan H. Bittles
    Publisher: Cambridge University Press, 2012
    ISBN-13: 978-0521781862

     
    Manual of Pediatric Neurology
     
    The Manual of Pediatric Neurology address frequently encountered paediatric neurological conditions in all clinical settings, including the management of seizures in the emergency department, treatment of epilepsy in the outpatient setting, acute and chronic management of headaches, tic disorder, neuromuscular illnesses, CNS infections, and more. Emphasis is placed on signs and symptoms, diagnostic tests as needed, as well as practical advice on treatment. Also covered are neonatal neurology and the management of stroke in children, and the care of child neurology patients at the end of life.

    Title: Manual of Pediatric Neurology
    Author: Pedro Weisleder - Ed
    Publisher: World Scientific Publishing, 2012
    ISBN: 978-981-4324-19-9

     
    ISCN 2013: An International System for Human Cytogenetic Nomenclature – updated and extended
     
    This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with the journal Cytogenetic and Genome Research since 1963. Revised and finalised by the ISCN Committee and its advisors at a meeting in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. New features include an update of the microarray nomenclature, more illustrative examples of uses of nomenclature in all sections, definitions including chromothripsis and duplication, and a new chapter for nomenclature that can be used for any region-specific assay.

    Title: An International System for Human Cytogenetic Nomenclature 2013
    Author: LG Shaffer, J McGowan-Jordan, M Schmid -Eds
    Publisher: Karger Publishers 2012
    ISBN: 978-3-318-02253-7

     


     
    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 (EUCERD Joint Action N° 2011-22-01)
    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, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

    INTERNATIONAL CORRESPONDENTS
    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), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (Poland), Alexandre Diniz (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, 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, Stefan Schreck, Kerstin Westermark (EMA-COMP), Jaroslaw Waligora

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