14 September 2011 print
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EUCERD releases state-of-the-art information capturing rare disease and orphan drug activity throughout Europe

An elaborate document detailing the rare disease-related activities throughout Europe has been released. Produced by the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD) through the three-year Joint Action to support the Scientific Secretariat of the former-RDTF/EUCERD (N° 2008 22 91), the 2011 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State (MS) levels up to the end of 2010.

The lengthy report is a hybrid of updated data from the previous report and brand-new information that was carefully selected to enhance understanding of the rare disease activities across Europe. As such, it presents an informed overview of rare disease and orphan drug activities, elaborated in concertation with a wide range of stakeholders from each of the MS and at the EU level. The information has been divided into three principal sections:

  • Part I, available for the first time, presents the Overview of Rare Disease Activities in Europe and Key Developments in 2010

  • Part II delineates the European Commission and Other European Activities

  • Part III outlines Activities in EU Member States and Other European Countries

  • The report outlines the political context that has spawned the growth of rare disease activities across Europe and also summarises the political frameworks of other regions across the world. Amongst the topics examined at both the MS and EU levels are the national strategies for rare diseases either implemented or under elaboration; centres of expertise; registries; newborn screening policies; genetic testing resources and activities; patient organisation activities; information resources; guidelines for best practice; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan drug and device incentives, availability, reimbursement and pricing policies; and specialised social services. New to this year’s edition are the topics of genetic testing, Europlan national conferences, orphan devices, other initiatives to improve access to orphan drugs, and orphan drug pricing policy. Each section of the report finishes with a bibliography of sources used, including a list of any European Commission documents referred to and a list of web addresses organised by country listing national sources of information on rare diseases and links to documents concerning national plans or strategies for rare diseases when appropriate. The report also furnishes a list of contributors, organised by country and with mention of the validating authority for each country.

    The report has met with praise at both the EU and MS levels for providing valuable insight into understanding the current resources and activities in the field of rare diseases across Europe that will help determine future strategies to meet the needs of rare disease patients and their families in Europe and further afield. Its publication comes just in time for the upcoming meeting of the International Rare Disease Research Consortium (IRDiRC) next month in Canada (learn more about the IRDiRC).

    Consult the 2011 Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases

    Spotlight on...
    The IUPHAR database of drug targets
    Anthony Harmar, Professor of Pharmacology, University of Edinburgh, and Chair of the NC-IUPHAR online database

    The International Union of Basic and Clinical Pharmacology (IUPHAR) is a voluntary, non-profit association representing the interests of pharmacologists around the world through the promotion of international cooperation, sponsorship of regional activities, encouragement of the exchange of ideas, and raising public awareness. One component of the IUPHAR is the Committee on Receptor Nomenclature and Drug Classification (NC-IUPHAR), a group of experts from academia and industry whose aims include issuing guidelines for receptor and ion channel classification; classifying the major receptor and ion channel systems; facilitating the interface between the discovery of new sequences from the Human Genome Project and the designation of the derived proteins as functional receptors and ion channels – also designating the receptor polymorphisms which are functionally important; and establishing and maintaining a website with access to data on all known receptor systems, freely available to all scientists, anywhere in the world. OrphaNews Europe spoke with Anthony Harmar, Professor of Pharmacology at the Queen’s Medical Research Institute, University of Edinburgh, and Chairman of the NC-IUPHAR online database (IUPHAR-DB), which lists classes of drug targets and their ligands.

    OrphaNews Europe: What is the significance of nomenclature in the domain of drug targets?

    Pr. Anthony Harmar: As with most fields of science, establishing a consistent nomenclature is crucial to achieving consistency in the literature, allowing for reliable searching and sharing of information. The NC-IUPHAR works to classify the major families of drug targets and to assign nomenclature and functions to new receptors and ion channels identified from genomic sequence data. Creating this nomenclature is a high priority for the NC-IUPHAR.

    OrphaNews Europe: How is the NC-IUPHAR organised?

    Pr. Anthony Harmar: NC-IUPHAR is composed of international experts, chaired by Michael Spedding in Paris, from both academic and industrial sectors, who work with a network of over 60 subcommittees and in liaison with other international bodies. Each subcommittee has 6–20 international experts. Single scientists may also be invited to contribute to receptors for which there is sufficient evidence to indicate a genuine receptor, but where the classification of this receptor is not controversial. Important new initiatives are addressed by working groups, which explore and develop possible future directions for the committee, and for receptor pharmacology.

    OrphaNews Europe: Can you describe the IUPHAR database?

    Pr. Anthony Harmar: The number of human genes that encode potential drug targets, sometimes referred to as the “druggable genome,” is much smaller than the total number of human genes (about 3000 of the total 30 000 human genes). The IUPHAR database (IUPHAR-DB) seeks to offer a complete profile for these possible targets. As such, it has been operating for about six years now, with support from the IUPHAR. Currently, the IUPHAR-DB receives more than 6000 unique visits per month, from over 100 countries. Visitors include scientists both from academic institutions and the commercial sector who are engaged in research relevant to drug discovery and the understanding of drug actions; students, teachers of pharmacology, biology, medicine and allied disciplines, and members of the public, many of whom access the database via Wikipedia, which is extensively linked to the IUPHAR-DB.

    At present we provide information on about 600 genes from the three strategic protein families through which the majority of prescription drugs act. One key question we are considering is how to best prioritise work on the 2400 genes we do not yet cover. The work is quite labour-intensive, involving the skills of three permanent staff and advice from our network of over 700 international experts.

    OrphaNews Europe: What does the IUPHAR database offer visitors?

    Pr. Anthony Harmar: The IUPHAR database is a freely accessible site that offers a one-stop shop of information, taking a particular gene that has potential as a drug target and describing everything relevant about it. It includes curated and peer-reviewed pharmacological, chemical, genetic, functional, process and anatomical information together with “bespoke” data specific to individual classes of drug targets (e.g., the conductances of ion channels). These data are considered highly reliable and the quality is widely regarded as authoritative. The rigorous definition of drug targets at the gene level, which are frequently not single gene products but rather protein complexes, are also highly regarded. We also link out to existing relevant databases, such as OMIM, HUGO, Ensembl and certain rat and mouse gene databases. Our information is vetted by networks of experts from both academia and industry.

    The NC-IUPHAR has recently undertaken collaboration with the British Pharmacological Society (BPS) centering on the provision of cross-referenced data from the BPS Guide to Receptors and Channels (GRAC), and the IUPHAR-DB. We are developing the Guide to Pharmacology, a new, single BPS-IUPHAR online portal that will give access to dynamically updated, searchable versions of GRAC and the IUPHAR-DB, which will be extensively hyperlinked to each other and to other online resources. This initiative, funded jointly by IUPHAR and BPS, should be available in the autumn of 2011.

    OrphaNews Europe: How could the IUPHAR database be useful to stakeholders in the field of rare diseases?

    Pr. Anthony Harmar: From the spectrum of rare diseases, there are about 80 genes in our database that are also listed in Orphanet. But through our work with ion channels, the IUPHAR-DB has been designed to accommodate detailed information on disease-causing mutations in human genes. The G Protein-Coupled Receptors (GPCR) – a family of more than 200 proteins viewed as potential targets for a wide range of diseases – are also strategically important. Certain rare diseases are caused by mutations in the GPCRs. Nephrogenic diabetes insipidus, for example, is usually caused by inactivating mutations in the V2 receptor for vasopressin (AVPR2). It is important to clarify, however, that our work focuses on proteins identified as potential drug targets. Drug treatment of diseases caused by mutations in these proteins presents an extra layer of complexity.

    OrphaNews Europe: What could a collaboration with Orphanet’s rare disease database bring to the table for interested stakeholders?

    Pr. Anthony Harmar: It could be beneficial to explore the scope for collaboration between the IUPHAR-DB team, the NC-IUPHAR international steering committee, and Orphanet, facilitating possible cross-reference of rare diseases with any potential drug targets that could be used to treat these diseases and to document the properties of the genes underlying rare diseases and their cognate orphan drugs.


    EU Policy News
    Deadline nears for submitting comments on concept paper on Duchenne and Becker muscular dystrophy treatment guidelines
    The European Medicines Agency recently published a draft concept paper on the need for a guideline on the treatment of Duchenne and Becker muscular dystrophy. The document is available online for consultation. Comments related to this concept paper should be provided using the template provided. The deadline for comments for this concept paper is 30 September 2011.


    National & International Policy Developments
    Switzerland creates a community of interest to develop a legislative proposal for a national rare disease strategy
    An alliance encompassing patient organisations, the Swiss Medical Association, university hospitals, the rare disease informational portal Orphanet-Switzerland and representatives from the pharmaceutical industry, have joined forces to promote a national strategy for rare diseases in Switzerland. Chaired by National Councillor Ruth Humbel, the newly-formed community of interest is actively engaged in advocating the development of a national action plan for the country’s rare disease patients. In November 2010, Ruth Humbel introduced a parliamentary initiative requesting the Federal Council to develop a national strategy with a specific plan of action for orphan diseases. The Federal Council accepted the claim, and has consequently assigned the Federal Office of Public Health the task of submitting a proposal.
    China's first rare-disease registry under way
    An article appearing in the Lancet in August describes the first rare disease registry currently under development in China. Created by osteogenesis imperfecta patient group China Dolls Care and Support Association, the registry seeks to connect physicians and patients, disseminate information, and gather data. As was reported in the 15 September 2010 issue of OrphaNews Europe, there has been a call for a global registry for rare diseases that would bring together scattered patient populations, resources and expertise in the field. According to the Lancet article, the Chinese registry needs “international collaboration and, particularly, assistance from the USA and the European Union where such registries have already been developed and put into operation” in order to be compatible on a global level. In other news, a Chinese language article was recently published in Sheng Wu Gong Cheng Xue Bao (the Chinese Journal of Biotechnology) expounding the Current Views on Rare Diseases Research and Orphan Drugs Development in China (Learn more).
    Expert consensus statement issued on genetic testing for channelopathies and cardiomyopathies
    The Heart Rhythm Society and European Heart Rhythm Association have released an Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. This valuable document imparts current knowledge on genetic testing for inherited heart diseases, evaluating the role and practice of genetic testing for potentially heritable cardiac conditions and the “diagnostic, prognostic and therapeutic impact of the genetic test result for each entity” . Expertise was taken from existing literature and expert experience.

    Amongst the heritable cardiac conditions included in the document are long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, progressive cardiac conduction disease, short QT syndrome, atrial fibrillation, hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, left ventricular noncompaction and restrictive cardiomyopathy. The document includes guidance on the use and role of genetic testing for out-of-hospital cardiac arrest survivors and post-mortem testing in sudden unexpected death cases. Endorsed by the Heart Rhythm Society and European Heart Rhythm Association in April 2011 and by the American Heart Association in June 2011, the statement was published in the August 2011 issues of the HeartRhythm Journal and Europace and is intended for all health professionals involved with genetic testing for channelopathies and cardiomyopathies.

    In a press release appearing on the website of the Heart Rhythm Society, co-lead author of the statement Dr Silvia G. Priori of Fondazione Salvatore Maugeri University in Pavia, Italy states that “Genetic testing cannot be viewed as a one-size fits all solution, but should be considered for each disease state. … The recommendations outlined in this document can and should be used as guidance on how each potential disease is evaluated with respect to genetic testing, keeping in mind that each patient is different”.
    Consult the Statement

    Two new rare disease legislative measures introduced in the USA this summer
    This summer saw the introduction of two new acts on behalf of rare disease patients in the USA. On 27 July, the H.R.2671: CAL Undiagnosed Diseases Research and Collaboration Network Act of 2011 was introduced in the House of Representatives to amend the existing Public Health Service Act in order to provide for the establishment and maintenance of an undiagnosed diseases network, and for other purposes. The bill has been referred to the House Committee on Energy and Commerce. On the same day, H.R. 2672: Preserving Access to Orphan Drugs Act of 2011 was also introduced in the US House of Representatives. Seeking to “clarify the orphan drug exception to the annual fee on branded prescription pharmaceutical manufacturers and importers,” this motion has been referred to the House Energy and Commerce and the House Ways and Means Committees for consideration.
    Other European news
    Family guides for Duchenne muscular dystrophy now available in more languages

    A collaborative effort involving several muscular dystrophy patient associations and Network of Excellence TREAT-NMD has created a guide for families based upon a two-part consensus article entitled The Diagnosis and Management of Duchenne Muscular Dystrophy published in the journal Lancet Neurology. The Family Guide for the Diagnosis and Management of Duchenne Muscular Dystrophy has since been translated into 18 different languages, thanks to the efforts of volunteers from around the world. Translations include Bulgarian, Chinese, Czech, Danish, English, Finnish, French, German, Hebrew, Hungarian, Lithuanian, Polish, Romanian, Russian, Serbian, Slovenian, Spanish and Turkish. Translation of the guide into Arabic, Greek, Japanese and Swedish are in progress. The Family Guide to SMA Care is also available in 13 languages. Volunteers are sought for both of these guides for translation into additional languages. A Family Guide based on an academic article on CMD care standards will also soon be published.
    Learn more

    Other International News
    Experts in the USA consider strategies for implementing newborn screening for critical congenital heart disease
    In the USA, newborn screening for critical congenital heart disease (CCHD) was recommended by the Health and Human Services (HHS) Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to promote early detection, yet was deemed “not ready for adoption pending an implementation plan from HHS agencies”. A new paper appearing in Pediatrics discusses recommendations for implementing a standardised approach to screening by the use of pulse oximtery monitoring to detect CCHD as well as diagnostic follow-up. The study touches on many practical aspects of implementation, including cost, coordination and quality assurance. Switzerland routinely uses pulse oximtery monitoring in maternity hospitals to detect CCHD, resulting in an estimated 85% of all newborns being screened nationwide, and Germany, Sweden and the UK have all undertaken prospective studies.
    Consult the free-access article

    Dystrophic epidermolysis bullosa: the International Dystrophic Epidermolysis Bullosa Patient Registry
    The International Dystrophic Epidermolysis Bullosa Patient Registry is aimed at worldwide collection and sharing of phenotypic and genotypic information on dystrophic epidermolysis bullosa (DEB). As of May 2011, the registry contained detailed information on 508 published and 71 unpublished patients and their 388 unique COL7A1 mutations, and included all combinations of mutations. According to an article appearing in Human Mutation journal, the registry suggests underreporting of autosomal dominant-DEB in the literature.
    Consult the PubMed abstract


    Ethical, Legal & Social Issues

    Is ethnically targeted screening for genetic disorders ethical?
    An interesting new paper considers ethnically-targeted screening for genetic conditions. Taking as an example the hemoglobinopathies (including thalassaemia and sickle cell disease), which have fluctuations in prevalence based on race or ethnicity, the authors compare ethical and practical considerations surrounding prenatal carrier and newborn screening in the USA and the UK. The issues of “cost” versus “equity” are particularly compelling and the authors compare the UK’s public health programme for prenatal screening with private practices in the USA. Aside from the problematic of ascertaining race/ethnicity, the authors point out that existing newborn screening programmes in both countries support the notion that “…individuals of all ethnic backgrounds are at risk, albeit varying, of carrying a hemoglobin variant…”. Thus, only in private practice for prenatal screening in the USA is race/ethnicity used as a criterion for offering prenatal carrier testing.
    Consult the PubMed abstract

    Improving genetic counselling in the cross-cultural setting
    An article appearing in the Canadian Family Physician journal offers practical strategies for genetic counselling in a cross-cultural context. The author cautions the genetic counsellor to examine their own assumptions, values and beliefs when communicating complex concepts such as “risk”, “disability” or “normalcy” in the prenatal genetic counselling setting in order to reduce misinterpretation and improve quality of care.
    Consult the free-access article


    Orphanet News
    Don’t be a stranger…
    Orphanet will have an exhibition booth at the upcoming 12th International Congress of Human Genetics and hopes to see many old friends … and make lots of new ones too! The Orphanet exhibition booth number is 120 and will be open from 12-14 October between 10:00-16:30.
    Consult the interactive map of conference exhibitors

    New Texts
    New Orphanet Journal of Rare Diseases publications
    Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure

    VACTERL/VATER Association


    New Syndromes

    Acrodysostosis with resistance to multiple hormones caused by a recurrent PRKAR1A mutation
    The authors studied 3 unrelated patients with acrodysostosis and resistance to hormones in the pathway activated by G-protein-coupled receptors and cyclic AMP (cAMP) (notably parathyroid hormone). They found a germline mutation in the gene encoding PRKAR1A, the cAMP-dependent regulatory subunit of protein kinase A; all three patients carried the same heterozygous de novo mutation resulting in the amino acid substitution R368X in PRKAR1A. This novel genetic abnormality results in the resistance of protein kinase A to cAMP stimulation.
    Read the PubMed abstract

    N Engl J Med ; 2218-2226 ; 9 June 2011
    An X-linked moyamoya syndrome, feathering short stature and a stereotyped facial dysmorphism, associated with loss of BRCC3
    Moyamoya is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. The authors investigated three unrelated families affected with an X-linked moyamoya syndrome characterised by the association of a moyamoya angiopathy, short stature, and a stereotyped facial dysmorphism. Other symptoms included a hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. The authors showed that this syndromic moyamoya is caused by Xq28 deletions removing MTCP1/MTCP1NB. and BRCC3. Their data suggest that BRCC3 is an important player in angiogenesis and that BRCC3 loss-of-function mutations are associated with moyamoya angiopathy.
    Read the PubMed abstract

    Am J Hum Genet ; 718-728 ; 10 June 2011
    Isolated autosomal-recessive nail dysplasia due to mutations in Frizzled 6
    The authors identified two consanguineous families in which some members were affected by isolated nail dysplasia that suggested an autosomal-recessive inheritance pattern and was characterised by claw-shaped nails, onychauxis, and onycholysis. Genome-wide SNP array and DNA sequence analyses revealed homozygous nonsense and missense mutations in FZD6, the gene encoding Frizzled 6.
    Read the PubMed abstract

    Am J Hum Genet ; 852-860 ; 10 June 2011

    New Genes

    Adaptor protein complex 4 (AP4) deficiency syndrome: AP4S1 and AP4B1 mutations identified
    In this paper, the authors report on eight individuals from three consanguineous families who presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. The transmission was autosomal-recessive. In each family, the authors identified a mutation in one of three genes encoding adaptor protein complex 4 (AP4) subunits: AP4S1, AP4B1, or AP4E1. Interestingly, two mutations affecting AP4E1 and AP4M1 (the fourth AP4 complex subunit) had recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these new results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognisable syndrome due to deficiency of the AP4 complex.
    Read the PubMed abstract

    Am J Hum Genet ; 788-795 ; 10 June 2011
    Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome type 2: ZBTB24 mutations are associated
    Read the PubMed abstract
    To read more about "ICF syndrome"

    Am J Hum Genet ; 796-804 ; 10 June 2011
    Hermansky-Pudlak syndrome: PLDN is mutated in type 9
    Read the PubMed abstract
    To read more about "Hermansky-Pudlak syndrome"

    Am J Hum Genet ; 778-787 ; 10 June 2011
    Congenital muscular dystrophy with mitochondrial structural abnormalities: mutations in CHKB are responsible
    Read the PubMed abstract
    Am J Hum Genet ; 845-851 ; 10 June 2011
    Distal myopathy with posterior leg and anterior upper limb involvement: mutations in filamin C at cause
    Read the PubMed abstract
    To read more about "Distal myopathy with posterior leg and anterior upper limb involvement"

    Am J Hum Genet ; 729-740 ; 10 June 2011
    Emery-Dreifuss muscular dystrophy-related myopathy: TMEM43 mutations appear involved in 2 cases
    Read the PubMed abstract
    To read more about "Emery-Dreifuss muscular dystrophy"

    Ann Neurol ; 1005-1013 ; June 2011
    Brittle cornea syndrome: mutations in PRDM5 identify a pathway regulating extracellular matrix development and maintenance
    Read the PubMed abstract
    To read more about "Brittle cornea syndrome"

    Am J Hum Genet ; 767-777 ; 10 June 2011
    Autosomal-recessive congenital cataracts: FYCO1 is a causal gene, frequent in the Pakistani population
    Read the PubMed abstract
    To read more about "Non-syndromic congenital cataract"

    Am J Hum Genet ; 827-838 ; 10 June 2011
    X-linked congenital hypertrichosis syndrome: association with interchromosomal insertions at Xq27.1 (near SOX3)
    Read the PubMed abstract
    To read more about "Congenital generalized hypertrichosis, Macias-Flores type"

    Am J Hum Genet ; 819-826 ; 10 June 2011
    Hairy-cell leukaemia: a somatic BRAF mutation (V600E) detected in 48 tested patients
    Read the PubMed abstract
    To read more about "Hairy cell leukemia"

    N Engl J Med ; 2305-2315 ; 16 June 2011
    Meckel syndrome: B9D1 revealed as a novel mutated gene
    Read the PubMed abstract
    To read more about "Meckel syndrome"

    Hum Mol Genet ; 2524-2534 ; 1 July 2011
    Kawasaki disease: genome-wide linkage and association mapping identifies susceptibility alleles in ABCC4
    Read the PubMed abstract
    To read more about "Kawasaki disease"

    J Med Genet ; 467-472 ; July 2011
    Autosomal recessive nonsyndromic intellectual deficit: the WASH complex member SWIP as a novel candidate gene
    Read the PubMed abstract
    To read more about "Autosomal recessive nonsyndromic intellectual deficit"

    Hum Mol Genet ; 2585-2590 ; 1 July 2011

    Research in Action

    Fundamental Research
    Charcot-Marie-Tooth disease type 2E: hNF-LE397K mice display muscle pathology without severe nerve pathology
    Read the PubMed abstract
    To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2E"

    Hum Mol Genet ; 2535-2548 ; 1 July 2011
    Primary ovarian failure: Dlx5/6+/- mice revealed as a new model, with early follicular depletion
    Read the PubMed abstract
    To read more about "Primary ovarian failure"

    Hum Mol Genet ; 2642-2650 ; 1 July 2011
    Cystic fibrosis: loss of anion transport appears key to airway epithelial dysfunction
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    PNAS ; 10260-10265 ; 21 June 2011
    Joubert syndrome: defective Wnt-dependent cerebellar midline fusion in a mouse model
    Read the PubMed abstract
    To read more about "Joubert syndrome"

    Nat Med ; 726-731 ; June 2011
    Hepatocellular carcinoma: identification of novel disease regulated proteins in a c-myc transgenic mouse model
    Read the PubMed abstract
    To read more about "Hepatocellular carcinoma"

    J Proteome Res ; 3012-3030 ; 1 July 2011
    Clinical Research
    Aneurysmal subarachnoid haemorrhage: lack of effect of clazosentan in patients undergoing surgical clipping in a phase 3 trial
    Read the PubMed abstract
    To read more about "Aneurysmal subarachnoid hemorrhage"

    Lancet Neurol ; 618-625 ; July 2011
    Advanced renal cell carcinoma: temsirolimus/bevacizumab combination cannot be recommended for first-line therapy
    Read the PubMed abstract
    To read more about "Renal cell carcinoma"

    Lancet Oncol ; 673-680 ; July 2011
    Retinoblastoma: intra-arterial and oral digoxin therapy in one child
    Read the PubMed abstract
    To read more about "Retinoblastoma"

    Ophthalmic Genet ; 147-150 ; 29 March 2011
    Short bowel syndrome: teduglutide has the potential to reduce dependency on parenteral support
    Read the PubMed abstract
    To read more about "Short bowel syndrome"

    Gut ; 902-914 ; July 2011
    POEMS syndrome: favorable effects of a combination of melphalan and dexamethasone for newly diagnosed patients
    Read the PubMed abstract
    To read more about "POEMS syndrome"

    Blood ; 6445-6449 ; 16 June 2011
    POEMS syndrome: bone marrow histopathology appears useful for diagnosis
    Read the PubMed abstract
    To read more about "POEMS syndrome"

    Blood ; 6438-6444 ; 16 June 2011
    Chronic lymphocytic leukaemia: autologous stem cell transplantation as a first-line treatment strategy
    Read the PubMed abstract
    To read more about "Chronic B-cell lymphocytic leukemia"

    Blood ; 6109-6119 ; 9 June 2011
    Primary myelofibrosis: recombinant interferon-α may retard progression of early disease
    Read the PubMed abstract
    To read more about "Myelofibrosis with myeloid metaplasia"

    Blood. 2011 Jun 16;117(24): ; 6669-6672
    Lynch syndrome: markedly lower cancer risks with MSH6 mutations than with MLH1 or MSH2 mutations
    Read the PubMed abstract
    To read more about "Hereditary nonpolyposis colon cancer"

    JAMA ; 2304-2310 ; 8 June 2011
    Tuberous sclerosis: delayed presentation also associated with life-threatening pulmonary and renal manifestations in women
    Read the PubMed abstract
    To read more about "Tuberous sclerosis"

    Ann Intern Med ; 806-813 ; 21 June 2011
    Congenital long-QT syndrome types 1 and 2: risk of recurrent cardiac events after onset of menopause for LQT2 genotype
    Read the PubMed abstract
    To read more about "Romano-Ward syndrome"

    Circulation ; 2784-2791 ; 21 June 2011
    Pemphigus and pemphigoid: generating consensus research goals and treatment strategies
    Read the PubMed abstract
    To read more about "Pemphigus vulgaris"
    To read more about "Superficial pemphigus"
    To read more about "Bullous pemphigoid"

    J Invest Dermatol ; 1395-1399 ; July 2011
    Childhood cancers: long-term risks of subsequent primary neoplasms among survivors
    Read the PubMed abstract
    JAMA ; 2311-2319 ; 8 June 2011
    Childhood cancer: long-term increased risk for subsequent leukaemia
    Read the PubMed abstract
    Blood ; 6315-6318 ; 9 June 2011
    Left ventricular noncompaction: is it really a distinct cardiomyopathy?
    Read the PubMed abstract
    To read more about "Left ventricular noncompaction"

    Eur Heart J ; 1446-1456 ; June 2011
    McCune Albright syndrome: gastrointestinal polyps found in 4 patients
    Read the PubMed abstract
    To read more about "McCune-Albright syndrome"

    J Med Genet ; 458-461 ; July 2011
    Stem Cells

    Dyskeratosis congenita: telomere shortening and loss of self-renewal in induced pluripotent stem cells

    Read the PubMed abstract

    To read more about "Dyskeratosis congenita"

    Nature ; 399-402 ; 22 May 2011
    Therapeutic Approaches
    Congenital muscular dystrophy type 1A: peripheral nerve pathology is ameliorated by doxycycline in a mouse model
    Read the PubMed abstract
    To read more about "Congenital muscular dystrophy type 1A"

    Hum Mol Genet ; 2662-2672 ; 1 July 2011
    Cystic fibrosis: GSH monoethyl ester rescues mitochondrial defects in cellular models
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    Hum Mol Genet ; 2745-2759 ; 15 July 2011
    Metachromatic leukodystrophy: intracerebroventricular enzyme infusion corrects CNS pathology and dysfunction in a mouse model
    Read the PubMed abstract
    To read more about "Metachromatic leukodystrophy"

    Hum Mol Genet ; 2760-2769 ; 15 July 2011
    Hypophosphatasia: dose response effect of bone-targeted enzyme replacement in murine disease
    Read the PubMed abstract
    To read more about "Hypophosphatasia"

    Bone ; 250-256 ; August 2011

    Patient Management and Therapy

    Juvenile idiopathic arthritis: a review
    The authors present new developments in genetics, immunology, and imaging which are instrumental to better define, classify, and treat patients with this heterogeneous group of diseases.
    Read the PubMed abstract

    To read more about "Juvenile idiopathic arthritis"

    Lancet ; 2138-2149 ; 18 June 2011
    Three new Clinical Utility Gene Cards available
    EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published three new Clinical Utility Gene Cards for:
    Meckel syndrome
    Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)


    Orphan Drugs

    Getting orphan treatments to patients faster and at less cost
    An article entitled Crafting a Robust Business Model for Orphan Drug Development appearing in Human Gene Therapy identifies "funds for research, together with relationship-building by advocacy groups" as crucial elements "if the number of orphan drugs is ever to catch up to the number of rare diseases they are meant to combat". The author also calls for strengthening existing orphan drug legislation and reforming regulations to let "new therapies … get to patients faster and at less cost”.
    Consult the PubMed abstract

    Purchase versus compounding costs in a subset of orphan drugs
    An author who has already championed pharmaceutical compounding for rare disease treatments (see the 3 February 2010 issue of OrphaNews Europe) once again raises the issue in a research article that looks at purchase versus compounding costs for rare disease treatments. Specifically, the authors compare Belgian hospital purchase prices with hospital compounding production costs for a subset of orphan products that incurred low research and development costs and market-access procedures. The overarching objective of this exercise is to help policy makers set purchase prices “…closer to real costs, thereby containing public and private expenditure on orphan drugs and optimizing the allocation of scarce resources”.
    Learn more

    FDA approves treatments for hereditary angioedema, Hodgkin lymphoma and anaplastic large cell lymphoma
    In the USA, the Food and Drug Administration (FDA) has approved Firazyr (icatibant) Injection from Shire Human Genetic Therapies for the treatment of acute attacks of hereditary angioedema (HAE). Firazyr was approved in the EU for the same indication in 2008. In August, the FDA granted accelerated approval to ADCETRIS (brentuximab vedotin) from Seattle Genetics Inc. for two indications: the treatment Hodgkin lymphoma after failure of autologous stem cell transplant (ASCT) or after failure of at least two prior multi-agent chemotherapy regimens in patients who are not ASCT candidates; and the treatment of patients with systemic anaplastic large cell lymphoma (ALCL) after failure of at least one prior multi-agent chemotherapy regimen.

    News article details growing interest in rare diseases
    Popular science magazine The Scientist reports how growing interest from the troika of biotechnology, big pharma and government is fuelling the development of therapies for rare diseases in the USA and abroad. The article follows the advancements of each of the key elements in recent years that is culminating in a record number of products in the pipeline for rare conditions.
    Consult the article



    Funding opportunities for Erdheim-Chester disease and treatments available
    The ECD Global Alliance has announced that it will be funding grant(s) up to $50,000 (€35,500) in 2012 for the study of Erdheim-Chester Disease and its treatments. Proposals are being accepted until 31 December 2011.
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    Courses & Educational Initiatives

    2nd Course in Eye Genetics-EuroMediterranean University Center of Bologna
    Eye Genetics is a 4-day long postgraduate level course taking place 28 September – 1 October and addressed to both researchers and clinicians seeking an up-to-date introduction to the field of ophthalmogenetics today. It provides an overview of the clinical developments of modern genetics in different fields of ophthalmology. The topics covered in the course are: hereditary retinal diseases, genetics of retinitis pigmentosa, genetics of age related macular degeneration, genetics of myopia, genetics of glaucoma, genetics of corneal pathology, genetics of optic nerve diseases, gene therapy.
    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

    ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
    This two-day ENERCA-ESH training course on rare red blood cell disorders will be held in Paris, France on 3-4 February 2012. The course aims at promoting harmonisation of procedures for clinical and biological diagnosis, as well as management and follow-up of patients with very rare red cell disorders, including red blood cell membrane disorders and enzymopathies, congenital dyserythropoietic anaemias, and other rare disorders of the red blood cell. The course should be of interest for biologists, haematologists, paediatricians and trainees in haematology.
    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?

    International Tuberous Sclerosis Complex Research Conference 2011
    Date: 21-24 September 2011
    Venue: Belfast, Northern Ireland

    Topics include clinical problems, epidemiology & natural history; genetics and molecular biology; neurological aspects of TSC; and a Research Study Day for the patient community.
    For further details

    13th International Conference on Chronic Myeloid Leukemia: Biology and Therapy
    Date: 22-25 September 2011
    Venue: Estoril, Portugal

    Speakers will present new and often unpublished data relating to 1) the biology of CML including the origin of BCR-ABL1, signal transduction, basis of disease progression, action of tyrosine kinase inhibitors and mechanisms underlying resistance to TKI; and 2) treatment aspects including prediction and definition of responses, drugs used in combination, molecular monitoring, targeting residual stem cells and approaches to a cure.
    For further details

    EurokeratoConus II: 2nd European Congress on Keratoconus
    Date: 23-24 September 2011
    Venue: Bordeaux, France

    Sessions will address: Epidemiology and Pathogenesis; Corneal Biomechanics; New treatments and much more.
    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

    Expanding Horizons in Friedreich Ataxia
    Date: 6 October 2011
    Venue: London, UK

    This meeting aims to increase knowledge and improve awareness of Friedreich ataxia including the clinical presentation, variant types and potential complications, disease progression, available therapies and therapeutic trials, molecular pathology and the rationale for potential therapeutic targets, and the social and psychological impact of progressive ataxia.
    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

    US Conference on Rare Diseases and Orphan Products
    Date: 11-13 October 2011
    Venue: Washington, DC, USA

    Bringing together stakeholders focused on rare diseases to gain a common understanding of the previous and emerging challenges and opportunities and strategies for the future. Featuring separate tracks for patients, researchers, companies, and investors, in addition to high-level plenary sessions where leading researchers, company officials, patient organisations and government leaders will discuss how the various interests can collaborate more productively.
    For further details

    European Congress on Myocardial and Pericardial Diseases
    Date: 13- 15 October 2011
    Venue: Lisbon, Portugal

    Focusing on the key contemporary issues in myocardial and pericardial diseases, the meeting includes the current state of the art management of myocardial dysfunction, aetiology and pathogenesis of inherited cardiac disease, and the role of current and merging multimodality imaging.
    For further details

    Genodermatoses in the Mediterranean - Together Against Genodermatoses
    Date: 13- 15 October 2011
    Venue: Paris, France

    Organised by the French national centre of expertise for genetic skin diseases at Necker–Enfants Malades Hospital in Paris, this event gathers specialised nurses, scientists, support-association representatives and others from the Mediterranean, Middle-Eastern, and European countries. Highlights include a satellite training course intended for specialists and paramedics to learn more about the health care of patients with inherited epidermolysis bullosa and/or ichthyosis, genetic counselling and therapeutic education.
    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

    2011 CAGC (Canadian Association of Genetic Counsellors) Annual Education Conference
    Date: 16 October2011
    Venue : Montreal, Canada

    This one-day follows the 12th International Congress of Human Genetics (ICHG). Topics include: Genetic counselling roles in Newborn Screening; The importance of facilitating communication, and more.
    For further details

    27th Annual Meeting of the Histiocyte Society
    Date: 17-19 October 2011
    Venue: Vienna, Austria

    This year’s programme features a presentation on recent publications on Erdheim-Chester disease that have provided important new insights into the pathogenesis, classification and management of this challenging histiocytic disorder. Other sessions include LCH in adults, including a review of lessons learned from the Society’s first adult LCH trial, LCH-A1, as well as other treatment experiences, through which a consensus approach to the treatment of LCH in the adult population will be developed This year’s meeting will also focus on the Society’s soon-to-be-launched International Rare Histiocytic Disorders Registry and the opening of the LCH-IV study.
    For further details

    The 40th ESPC Symposium on Clinical Pharmacy – with a Workshop on Cross-Border Healthcare and Rare Diseases
    Date: 19-21 October 2011
    Venue: Dublin, Ireland

    This year’s programme features a special workshop on Cross-border Healthcare and Rare Diseases that will allow an exchange of ideas on the development of cross-border clinical pharmacy interventions in patients with rare diseases across Europe, considering aspects such as adherence, off-label and unlicensed use, and home treatment.
    For further details

    EPPOSI Advanced Innovation Programming Day
    Date: 20 October 2011
    Venue: Brussels, Belgium

    This event will set the priorities for EPPOSI activities for 2012 in key areas – including rare diseases.br> For further details

    1st CURE-Net International Conference for Congenital Uro-Rectal Malformations
    Date: 21-22 October 2011
    Venue:Heidelberg, Germany

    This conference we will present the preliminary results of the CURE-Net work and explore many interesting and challenging topics concerning congenital uro-rectal malformations.
    For further details

    2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
    Date: 27-28 October 2011
    Venue: Tbilisi, Georgia

    With this year’s theme: Children and Rare Diseases: From Isolation to Integration, the conference will continue the tradition of the previous South Caucasian Conference - providing the most updated information in the field of rare diseases, and giving participants an opportunity of meeting experts from all over the world.
    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

    Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
    Date: 16-18 November 2011
    Venue: Ottawa, Canada

    This event will allow participants to review epidemiological studies on the natural history, diagnosis and treatment of musculoskeletal congenital anomalies, particularly limb deficiencies; highlight maternal and environmental risk factors associated with susceptibility to musculoskeletal congenital anomalies; share up-to-date information on the embryology, molecular mechanisms and classification of musculoskeletal congenital anomalies, as well as key messages on the impact of living with a limb deficiency; and raise awareness of the importance of integrating congenital anomalies surveillance and research into current public health initiatives. .
    For further details

    5th International Workshop on AKU (Alkaptonuria)
    Date: 18-19 November 2011
    Venue: Liverpool, UK

    Topics will include: Building clinical trials for AKU using a disease severity score index; Nitisinone, from weed killer to wonder drug; Metabolomic investigation in AKU and OA; Enzyme replacement therapy for AKU; Gene therapy for AKU; Novel biomarkers of cartilage and bone for AKU; and more.
    For further details

    6th Eastern European Conference for Rare Diseases and Orphan Drugs
    Date: 24-26 November 2011
    Venue: Istanbul, Turkey

    The general objective of the conference Eastern European Conference for Rare Diseases and Orphan Drugs is to discuss the development of policy on Rare Diseases and Orphan Drugs in Eastern European countries in comparison with the EU policy. The following plenary sessions and parallel workshops topics include: European Union Policy for Rare Diseases, Eastern European Countries Policies for Rare Diseases, Best Practices on Rare Diseases, Networks & Centers of Reference for Rare Diseases, Challenges in Diagnosis, Challenges in Treatment, Role of Industry for Orphan Drugs Development and Access to Orphan Drugs, Awareness of Medical Professionals and Health Authorities, Challenges to Patients and Families, Empowerment of Patients, Organising Patients and Families, and Awareness of Patients and the Society.
    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

    International Congress on Research of Rare and Orphan Diseases
    Date: 29 February - 2 March 2012
    Venue: Basel, Switzerland

    The Swiss-based Blackswan Foundation and Gebert Rüf Stiftung Foundation, both active in supporting research activities in Rare Diseases, are preparing an international congress of which the main topics will include Gene and cell therapy; Stem cells; Diagnostics; Therapeutic applications; and Genomic disorders. The congress will be open to scientific researchers, specialized scholars, professionals and officials.
    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

    13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
    Date: 28-31 March 2012
    Venue: London, England

    This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting. Deadline for abstract submission: 30 November 2011.
    For further details

    Fourth International Meeting on Primary Central Hypoventilation Syndromes
    Date: 13-14 April 2012
    Venue: Warsaw, Poland

    The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
    For further details

    First International Symposium on the Ehlers-Danlos Syndrome
    Date: 8-11 September 2012
    Venue: Ghent, Belgium

    Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
    For further details


    Press & Publications

    Intellectual Disability and Ill Health
    People with intellectual disability often have health needs that go unrecognised and untreated; this may be because of difficulties in communication, diagnostic overshadowing, discrimination or indifference. There is concern that public health measures aimed at reducing the main health killers in the population will not address these issues for people with intellectual disability and may preferentially widen the inequality that already exists. This book is a comprehensive and systematic review of physical and mental health co-morbidities in people with intellectual disability. Such an evidence base is vital in shaping public health policy, healthcare commissioning and the development of more effective healthcare systems, as well as supporting better understanding and practice at an individual clinical level.
    Title: Intellectual Disability and Ill Health
    Authors: O'Hara J,McCarthy J, and Bouras N – Eds.
    ISBN: 9780521728898


    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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