8 February 2012 print
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Generation Next: The future is now
Advanced technologies remove the financial hurdle to routine molecular testing for inherited diseases but raise ethical issues

A large majority of rare diseases are monogenic conditions transmitted by Mendelian inheritance. Since Gregor Mendel first observed the patterns of inheritance in his pea plants, the landscape of genetics has changed radically. Indeed, scientific know-how has advanced so fast and so far in its capacity to link specific genotypes to specific phenotypes that health care policymakers are struggling to keep abreast of the ethical implications the new technology raises alongside its breathtaking array of possibilities.

Dr. Stephen F. Kingsmore and colleagues at the Children’s Mercy Hospital and Clinics in Kansas City, Missouri (USA) work with the powerful Next Generation Sequencing (NGS) technology and are determined to use it as efficiently and as ethically responsible as possible. Several recent papers from the Kansas City researchers describe their work, including groundbreaking targeted diagnostic testing involving over 600 childhood recessive diseases conducted on undiagnosed paediatric patients at the Children's Mercy Hospital for the astonishingly low cost of under $800 per patient. One of the most remarkable aspects of the innovative NGS technology is the cost – NGS brings down the price of individual genome sequencing some 1700-fold.

In a recent article from the Kansas City researchers, published in the Expert Review of Molecular Diagnostics Kingsmore and his colleagues describe many benefits the new comprehensive testing has over the three-decade-old gold standard of univariate genetic testing via Sanger sequencing. Noting that Mendelian disorders account for approximately 17% of paediatric hospitalisations, and a greater proportion of healthcare costs, economy is one of the major advantages next-generation sequencing brings. The number of differential diagnoses, for example, could be significantly reduced. This practical aspect of NGS is proving attractive to financially-strapped healthcare systems around the world.

For patients and their families, there are other, life-changing benefits that reach beyond considerations of cost. NGS technology will allow for the diagnosis of hundreds of conditions that have previously been unconfirmed at the molecular level. The implications of this are extensive. Parents receiving a definite diagnosis will be able to seek appropriate specific clinical care, interact with families similarly affected, and be able to have concrete information on the natural history, prognosis and outcome for the disease. Furthermore, NGS permits earlier diagnosis and intervention, ultimately saving lives and improving the quality of life for patients whose diseases have treatment strategies available.

Concrete diagnoses via NGS also facilitate the recruitment to trials for investigational new drugs (INDs), which often suffer from a lack of patients. Presently, diagnosis is too often reached for patients after organ damage has already commenced, thus constraining the use of INDs. Furthermore, as Kingsmore and his colleagues point out, NGS allows for the genotype stratification of patients, thus capturing a refined understanding of INDs efficacy. Other benefits include the improvements or refinements to genetic counselling, the contribution to variant databases, and the socio-psychological aspects that a certain, early diagnosis allows to the patient and family.

For all these benefits, the new technology also raises complex questions that are not easy to answer. The recently-published paper entitled Ethical Considerations Associated with Clinical Use of Next-Generation Sequencing in Children discusses “incidental findings” unrelated to the clinical diagnosis, carrier status, and novel variants of uncertain significance, in the context of offering NGS-based tests for the routine diagnosis of autosomal and X-linked recessive conditions in children who do not have a definite diagnosis for syndromic-like conditions. There are also practical questions to be answered, such as whether certain sequencing procedures fall into the category of research or diagnostics – questions important for regulatory purposes. The authors note that “Technological innovation always builds on scientific development, requires political and moral vision, and catalyzes social changes that reshape the environment”. New genetic technologies will need the input of all relevant stakeholders – including parents and patient groups, clinicians, geneticists, policy makers and medical ethicists – to ensure that they are used in a way that minimises harm while maximising benefit.

As mentioned, colleagues at the Children’s Mercy Hospital and Clinics are launching an economically feasible multiplexed NGS-based test for over 600 recessive and X-linked childhood diseases in undiagnosed children. It is probable that dominant diseases will also be included in future testing. As delineated in the Expert Review of Molecular Diagnostics article, diseases were included in the current exercise based on three central criteria: cost–effectiveness; clinical utility; and optimal patient satisfaction (cases of ‘diagnostic dilemma’, for example, involving diseases with very similar or overlapping phenotypes with locus heterogeneity). The authors predict that “the causal genes for approximately 15,000 Mendelian disorders will be identified in the next 5 years. Genotype–phenotype relationships will be understood for several thousand Mendelian disorders. Ongoing research in Mendelian diseases will also increase…understanding of the function of noncoding variants and their relationship to phenotype. Many epistatic modifier genes for recessive illnesses will be identified, leading us to change our perception of Mendelian disorders from being single-gene conditions to a more nuanced view”.

Besides the Children’s Mercy Hospital NGS programme, the National Human Genome Research Institute at the National Institutes of Health has funded two new centres in the USA, one at Baylor College of Medicine and the other at Yale University, to do similar types of sequencing. The Kansas City team is collaborating closely with Prof Hilger Ropers at the Max Planck Institute in Berlin to introduce similar testing there. NGS technology, powerful and relatively inexpensive, coupled with advanced computational analysis, is changing the landscape for rare inherited diseases and offering fresh hope to patients and their families. The policies guiding its responsible and ethical application must keep pace. The future is now.
Contact Dr. Kingsmore

EU Policy News
European Medicines Agency launches public consultation on a revision of the guideline for the evaluation of human anticancer medicines
The European Medicines Agency has opened a public consultation on the revised guideline on the evaluation of human anticancer medicines. The guideline seeks to provide guidance on all stages of clinical drug development for the treatment of malignancies, including rare cancers and paediatric cancers, all of which are rare. The guideline revision emphasises exploratory studies to properly define the most appropriate target population as well as the role of biomarkers. Also new, the guideline incorporates disease-specific guidance. Comments on the reflection paper can be submitted until 31 May 2012.
Learn more


National & International Policy Developments
In one fell swoop Australian rare disease experts form a partnership with Orphanet and launch the scoping process for a national strategy
Rare disease stakeholders from Western Australia have joined ranks with international rare disease and orphan drug information portal Orphanet, upping the number of countries contributing information to the database to 37. Simultaneous with this action, key players from Western Australia’s Department of Health and Office of Population Health Genomics have begun the process of developing a scoping paper that will analyse the need for a national rare disease strategy in the country. Meanwhile, in Western Australia, the Department of Health is committing to specific actions, including a trials centre for innovative treatments for rare diseases, national registries, screening policies and models, and actions around epidemiology. Western Australia health officials are encouraging other jurisdictions to participate in the Orphanet portal.
For first time, Irish clinic to offer pre-implantation diagnostics
For the first time in Ireland a fertility clinic, in partnership with a UK-based service, will be offering pre-implantation genetic diagnosis (PGD) to parents at risk for transmitting an inherited genetic disorder. Although the move is steeped in controversy, the Irish Times reports that several other clinics are demanding permission from the Irish Medicines Boards to offer PGD, a procedure that prevents the transmission of rare monogenic conditions and is an alternative to prenatal diagnosis. According to the news report, the clinic, which has not yet received authorisation to start PGD, also seeks to offer chromosome screening. Critics fear that the technology could eventually be used for gender selection or for screening out minor defects.
China's commitment to the Human Variome Project expected to be beneficial for the country's patients with genetic diseases
An article appearing in Science (16 December 2011) reports on China's large financial investment in the Human Variome Project and the impact it could have for the country's rare disease patients and their families. China has committed 3 billion yuan (€362 million) to the international project - the largest contribution from any single country. Its involvement in the project is expected to give a much-needed boost to China's educational and service resources in the field of genetics. According to the news article, China is actively seeking to build up genetic services and train professionals. Establishing genetic counselling programmes are amongst the measures mentioned. This comes as good news for China, which presently lacks concrete information on the numbers and types of rare diseases amongst its large, diverse population as well as the resources to diagnose and treat them.
Other International News
This year's Rare Disease Day focuses on solidarity

2012 marks the fifth annual celebration of Rare Disease Day, an international event coordinated by European rare disease patient umbrella group Eurordis. This year's theme - solidarity - evokes the cooperation and collaboration crucial to moving forward awareness, information, services and treatment for rare disease patients and their families worldwide. Take a look at the official Rare Disease Day website to find the activities being organised in your region. Be on the look-out for a special issue of OrphaNews Europe commemorating International Rare Disease Day this 29 February. Together we can make a difference!

Bioinformatics, Registries and Data Management
Cross-referencing Orphanet rare diseases with other medical terminologies
In order to establish interoperability of Orphanet terminology with other medical terminologies, as well as revise data on rare diseases in general medical terminologies such as SNOMED CT, it is crucial to cross-reference Orphanet with them.

A method for creating mappings between the Orphanet terminology of rare diseases and the United Medical Language System (UMLS), in particular the SNOMED CT, MeSH, and MedDRA terminologies, was developed in a joint project with the National Genetics Reference Laboratory Manchester. The method is based on: (i) aggressive normalisation of terms specific to the Orphanet terminology on top of standard UMLS normalisation; (ii) semantic ranking of partial mappings in order to group similar mappings and attribute higher ranking to the more informative ones. A manual assessment of exact mappings has shown a high precision of 94.6%. Assessment of mappings has helped identify errors and inaccuracies (such as wrong disease synonyms) both in Orphanet and in target terminologies.

The results imply that Orphanet rare diseases are still under-represented in the general medical terminologies: SNOMED CT, MeSH, and MedDRA are found to contain only 35%, 42%, and 15% respectively, of the Orphanet rare diseases.

The work on cross-referencing Orphanet rare diseases was presented at the Artificial Intelligence in Medicine 2011 conference in Bled, Slovenia on 4 July 2011. It has been published in the paper Mapping Orphanet Terminology to UMLS by Maja Milicic-Brandt, Ana Rath, Andrew Devereau and Ségolène Aymé available in the Proceedings of the 13th Conference on Artificial Intelligence in Medicine (AIME 2011) (Springer, 978-3-642-22217-7). The results of this cross-mapping exercise will appear soon on the Orphanet website.
Learn more

Using rare coagulation disorders as a model for improving understanding and treatment for rare diseases
Taking rare coagulation disorders (including haemophilia) as an example, a group of authors present ways to improve information-sharing by collaboration across agencies, networks, and countries, citing the positive ramifications collective knowledge sharing could have on diagnostics, research and treatment. The main tool to improve the knowledge base for the rare coagulation diseases is a clinical, genetic and treatment-related web-based data-collecting interface that is harmonised between different countries and systems to maximise its impact and includes a resource library for further sharing of knowledge and methodologies. The authors assert that their model could be applied to other groups of rare diseases as well as to common disorders.
Learn more


Ethical, Legal & Social Issues

Two rare disease families take matters into their own hands when it comes to developing a treatment for Duchenne muscular dystrophy
The Wall Street Journal reports a new twist in patient activism when it comes to obtaining treatments for rare diseases: buying the actual pharmaceutical compound for further drug development. Two families recently did just that, joining forces to purchase halofuginone, a medication for Duchenne muscular dystrophy that was recently abandoned by the Israeli biotech firm that owned the patent. Halofuginone can ease the symptoms of Duchenne, a degenerative disease that affects mostly boys. The families have developed a model, with the help of experts, for development of the molecule, which will be conducted through a newly formed company called Halo Therapeutics. According to the article in the WSJ, after paying around $USD 1 million for the compound, the families will need to raise another $USD 8 million to conduct a Phase II trial (the drug has already undergone preliminary safety testing).
Learn more

Obtaining a diagnosis for a rare disease: parents of children with Rett syndrome in China and Australia experience the same anxiety and frustration
Two articles published in the American Journal of Medical Genetics illustrate that the fight for an accurate, timely diagnosis and information for rare diseases is pretty much the same everywhere, even if the causes for delay vary from country to country depending on social, economic and other factors. Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome families relates the experience of Chinese families seeking a diagnosis for daughters with Rett disease and details some of the hurdles that delay diagnosis. As in many other countries around the world, an "over-burdened healthcare system and limited clinician knowledge" were identified as stumbling blocks to obtaining a diagnosis. The Diagnostic Odyssey to Rett Syndrome: The Experience of an Australian Family in many way echoes the experience of families in China, especially in terms of the anxiety and frustration that parents experience in their struggle to find a name for their child's ailment. The experience from Australia, taking into account the comments from the Chinese experience, culminates in some observations from the authors:
  • Clinicians need to be aware of the range of clinical presentations in Rett syndrome and use this knowledge when considering a diagnosis;
  • Families and clinicians are working partners during the process of reaching a diagnosis and beyond;
  • Family perspectives need to inform the improvement of clinical pathways to facilitate diagnoses in rare disorders;
  • Achieving a diagnosis for a rare disorder can provide many benefits for the family both in the short- and long-term.

  • Read the experience of Chinese Rett syndrome families
    Read the experience of Australian Rett syndrome families


    Orphanet News
    Orphanet texts available in Polish for a number of diseases

    Orphanet, the pan-European information portal for rare diseases and orphan drugs, is currently available in six European languages. Always seeking to improve access to the expert-validated information it offers, Orphanet now has a number of disease summaries available in Polish. Some 60 texts, each one presenting an overview of a specific rare disease, have thus far been translated into Polish, and new texts will be added on a regular basis.

    Orphanet adds therapeutic indication details to its information on rare disease medicinal products
    Orphanet provides information on the medicinal products available or under development to treat the rare diseases listed in its extensive database, including those with and without an orphan designation, and all products approved for marketing in the European Union and further abroad. Details on the therapeutic indication of these products are now available on the Orphanet website. Validated by the appropriate regulatory agency, the therapeutic indication allows users to view the specific condition(s) for which a product has been approved and/or has received an orphan designation. Another tweak to improve the availability of information is the addition of medicinal products to the information provided via a search by disease classification. Thus, users now have a snapshot of all the medicinal products available or under development within a specific classification.
    New Texts
    New Orphanet Journal of Rare Diseases publications
    Chromosome 15q24 microdeletion syndrome
    Congenital Diaphragmatic Hernia


    New Syndromes

    An X-linked intellectual deficit caused by Xq28 duplication distal to MECP2 gene mediated by int22h-1/int22h-2 rearrangements
    The authors identified a novel 0.5 Mb duplication in Xq28 in four cognitively impaired males from three unrelated families who share behavioural abnormalities (hyperactivity and aggressiveness) and characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip). These duplications were inherited from mothers with skewed chromosome X-inactivation (XCI), are located telomeric to the MECP2 gene region and mediated by non-allelic homologous recombination between the low-copy repeat regions int22h-1 and int22h-2 (known to be involved in factor VIII gene inversions in severe haemophilia A cases). A reciprocal deletion was found in a girl and her mother, both of whom exhibit normal cognition and completely skewed XCI. The mother also had two spontaneous abortions, which suggests that the deletion may be lethal for males in utero.
    Read the PubMed abstract

    J Med Genet ; 840-850 ; December 2011
    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
    The authors present three sibs and two unrelated patients with intellectual disability (ID). They detected overlapping 1p21.3 deletions in these patients, with a shortest region of overlap including dihydropyrimidine dehydrogenase (DPYD) and microRNA 137 (MIR137) genes. Several arguments made the authors consider that the patient phenotype is more likely associated with haploinsufficiency of MIR137, although a role for DPYD is not fully excluded. The patients displayed significantly decreased levels of both precursor and mature microRNA-137 (miR-137), as well as significantly increased expression of downstream targets of miR-137. Investigations suggest a role of miR-137 in regulating local synaptic protein synthesis machinery.
    Recently, another publication reported on four patients from three unrelated families with hemizygous deletions at 1p21.3 which involve DPYD. All four patients met diagnostic criteria for autism spectrum disorder with severe speech delay. However, the authors of the more recent publication note that one of the deletions also comprised MIR137 (ID was noted in the patient) and that the identical deletion reported in two siblings (one with ID) might affect expression of MIR137.
    Read the PubMed abstracts

    J Med Genet ; 810-818 ; December 2011
    Clin Genet ; 435-443 ; November 2011

    New Genes

    Hereditary cryohydrocytosis with reduced stomatin: the disease is caused by SLC2A1 mutations
    Read the PubMed abstract
    To read more about "Hereditary cryohydrocytosis with reduced stomatin"

    Blood ; 5267-5277 ; 10 November 2011
    Cerulean cataract: a new locus for autosomal dominant congenital disease (CCA5) maps to chromosome 12q24
    Read the PubMed abstract
    To read more about "Cerulean cataract"

    Eur J Hum Genet ; 1289-1291 ; December 2011
    Ovotesticular disorder of sex development: identification of copy number variations located a long distance upstream of SOX9
    Read the PubMed abstract
    To read more about "Ovotesticular disorder of sex development"

    J Med Genet ; 825-830 ; December 2011
    Hereditary nonpolyposis colon cancer without mismatch repair gene mutation: variants in the netrin-1 receptor UNC5C increase risk of colorectal cancer
    Read the PubMed abstract
    To read more about "Hereditary nonpolyposis colon cancer"

    Gastroenterology ; 2039-2046 ; December 2011

    Research in Action

    MicroRNAs: a review of their role in the biology of rare diseases
    MicroRNAs (miRNAs) are a class of small non-coding RNAs that regulate gene expression at the post-transcriptional level by either degrading or blocking translation of messenger RNA targets. Recently, miRNA expression patterns of body fluids underscored their potential as noninvasive biomarkers for various diseases. After a general review of miRNAs function, role, and potential as biomarkers, the authors present their potential added value in a selected panel of rare diseases: Duchenne muscular dystrophy, amyotrophic lateral sclerosis, Sezary syndrome, Rett syndrome, multiple osteochondromas, Hailey-Hailey disease, and hepatoblastoma.
    Read the PubMed abstract

    Int J Mol Sci ; 6733-6742 ; 2011
    Fundamental Research
    Sickle cell anaemia: a proof-of-principle in adult mice for disease correction by inactivating BCL11A, a repressor of fetal haemoglobin reactivation
    Read the PubMed abstract
    To read more about "Sickle cell anemia"

    Science ; 993-996 ; 18 November 2011
    Dyskeratosis congenita: a zebrafish model of nop10 loss suggests a mechanism for cytopenia
    Read the PubMed abstract
    To read more about "Dyskeratosis congenita"

    Blood ; 5458-5465 ; 17 November 2011
    Atypical Rett syndrome: induced pluripotent stem cells to model CDKL5-related disorders
    Read the PubMed abstract
    To read more about "Atypical Rett syndrome"

    Eur J Hum Genet ; 1246-1255 ; December 2011
    Choreoacanthocytosis: erythrocyte membrane changes are the result of altered Lyn kinase activity
    Read the PubMed abstract
    To read more about "Choreoacanthocytosis"

    Blood ; 5652-5663 ; 17 November 2011
    Qualitative or quantitative defects of fukutin or FKRP: zebrafish models display abnormal vascular development
    Read the PubMed abstract
    To read more about "Qualitative or quantitative defects of FKRP"
    To read more about "Qualitative or quantitative defects of fukutin"

    Hum Mol Genet ; 4879-4890 ; 15 December 2011
    Duchenne muscular dystrophy: expression of the dystrophin isoform Dp116 partially improves the phenotype in mice lacking both dystrophin and utrophin
    Read the PubMed abstract
    To read more about "Duchenne muscular dystrophy"

    Hum Mol Genet ; 4978-4990 ; 15 December 2011
    Congenital muscular dystrophy type 1A: autophagy is increased in muscle, and its inhibition improves muscle morphology in a mouse model
    Read the PubMed abstract
    To read more about "Congenital muscular dystrophy type 1A"

    Hum Mol Genet ; 4891-4902 ; 15 December 2011
    Proximal spinal muscular atrophy: SMN interferes with the Rho-kinase pathway via profilin2a, providing a mechanistic basis to explain axonal defects
    Read the PubMed abstract
    To read more about "Proximal spinal muscular atrophy"

    Hum Mol Genet ; 4865-4878 ; 15 December 2011
    Spinocerebellar ataxia type 1: Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model
    Read the PubMed abstract
    To read more about "Spinocerebellar ataxia type 1"

    Hum Mol Genet ; 4822-4830 ; 15
    Glycogen storage disease type 2: induced pluripotent stem cells are a promising model for the development of novel therapeutic strategies
    Read the PubMed abstract
    To read more about "Glycogen storage disease type 2"

    Hum Mol Genet ; 4851-4864 ; 15 December 2011
    Cystic fibrosis: STAT3, IL1B, and IFNGR1 determine cystic fibrosis disease manifestation
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    Eur J Hum Genet ; 1281-1288 ; December 2011
    Clinical Research
    Huntington disease: no significant benefit of pridopidine on primary endpoint of a phase 3 study, but potential effect on the motor phenotype
    Read the PubMed abstract
    To read more about "Huntington disease"

    Lancet Neurol ; 1049-1057 ; December 2011
    Gaucher disease: safety and efficacy of enzyme replacement therapy with taliglucerase alfa in a pivotal trial
    Read the PubMed abstract
    To read more about "Gaucher disease"

    Blood ; 5767-5773 ; 24 November 2011
    Homozygous familial hypercholesterolaemia: advances in lipid-lowering therapy reduced mortality
    Read the PubMed abstract
    To read more about "Familial hypercholesterolemia"

    Circulation ; 2202-2207 ; 15 November 2011
    Primary sclerosing cholangitis: high-dose ursodeoxycholic acid is associated with the development of colorectal neoplasia in patients with ulcerative colitis
    Read the PubMed abstract
    To read more about "Primary sclerosing cholangitis"

    Am J Gastroenterol ; 1638-1645 ; September 2011
    Chronic myeloid/acute lymphoblastic leukaemia: allogeneic stem cell transplantation is a valuable therapeutic tool for patients with BCR-ABL(T315I) mutation
    Read the PubMed abstract
    To read more about "Chronic myeloid leukemia"
    To read more about "Acute lymphoblastic leukemia"

    Blood ; 5697-5700 ; 17 November 2011
    Eisenmenger syndrome: iron deficiency is associated with adverse outcome
    Read the PubMed abstract
    To read more about "Eisenmenger syndrome"

    Eur Heart J ; 2790-2799 ; November 2011
    Familial long QT syndrome: a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands
    Read the PubMed abstract
    To read more about "Familial long QT syndrome"

    Circulation ; 2187-2194 ; 15 November 2011
    Autosomal recessive retinitis pigmentosa: combining gene mapping and phenotype assessment allows fast mutation finding in non-consanguineous families
    Read the PubMed abstract
    To read more about "Retinitis pigmentosa"

    Eur J Hum Genet ; 1256-1263 ; 19 December 2011
    Rare cancers of the head and neck area: incidence, prevalence and survival rates in Europe
    Read the PubMed abstract
    To read more about "Squamous cell carcinoma of head and neck"

    Eur J Cancer ; Epub ahead of print ; 17 November 2011
    Thrombocytopenia: a missense mutation in filamin A found responsible for the condition in a woman with platelet abnormalities
    Read the PubMed abstract
    To read more about "Rare hemorrhagic disorder due to a constitutional platelet anomaly"

    Blood ; 5928-5937 ; 24 November 2011
    Primary myelofibrosis: EZH2 mutations are independently associated with shorter survival
    Read the PubMed abstract
    To read more about "Myelofibrosis with myeloid metaplasia"

    Blood ; 5227-5234 ; 10 November 2011
    Hereditary breast cancer: CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women
    Read the PubMed abstract
    To read more about "Hereditary breast and ovarian cancer syndrome"

    J Med Genet ; 860-863 ; December 2011
    Gene Therapy
    Wiskott-Aldrich syndrome: a review of gene therapy
    Read the PubMed abstract
    To read more about "Wiskott-Aldrich syndrome"

    Curr Opin Allergy Clin Immunol ; 545-550 ; December 2011
    X-linked chronic granulomatous disease: results from phase 1/2 trial of retroviral gene therapy
    Read the PubMed abstract
    To read more about "Chronic granulomatous disease"

    Mol Ther ; 2092-2101 ; November 2011
    Facioscapulohumeral dystrophy: RNA interference successfully corrected mice over-expressing FRG1
    Read the PubMed abstracts
    To read more about "Facioscapulohumeral dystrophy"

    Mol Ther ; 2048-54;2055-64 ; November 2011
    Cystic fibrosis: N-acetylcysteine enhances sputum penetration and airway gene transfer by highly compacted DNA nanoparticles in model mice
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    Mol Ther ; 1981-1989 ; November 2011
    Glycogenosis due to glucose-6-phosphatase deficiency type a: mouse hepatorenal correction with a double-stranded adeno-associated virus vector
    Read the PubMed abstract
    To read more about "Glycogenosis due to glucose-6-phosphatase deficiency type a"

    Mol Ther ; 1961-1970 ; November 2011
    Haemophilia B: stable human factor IX expression after intrauterine gene transfer of self-complementary adeno-associated viral vectors in macaques
    Read the PubMed abstract
    To read more about "Hemophilia B"

    Mol Ther ; 1950-1960 ; November 2011

    Patient Management and Therapy

    Familial amyloid polyneuropathies: a global review
    Read the PubMed abstract
    To read more about "Familial amyloid polyneuropathy"
    To read more about "Familial amyloidosis, Finnish type"
    To read more about "Familial renal amyloidosis due to Apolipoprotein AI variant"

    Lancet Neurol ; 1086-1097 ; December 2011
    Lambert-Eaton myasthenic syndrome: from clinical characteristics to therapeutic strategies
    Read the PubMed abstract
    To read more about "Lambert-Eaton myasthenic syndrome"

    Lancet Neurol ; 1098-1107 ; December 2011
    Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
    Read the PubMed abstract
    To read more about "Primary dystonia, DYT13 type"
    To read more about "Primary dystonia, DYT2 type"
    To read more about "Primary dystonia, DYT4 type"
    To read more about "Primary dystonia, DYT6 type"
    To read more about "Dystonia-plus syndrome"
    To read more about "Early onset torsion dystonia"

    Lancet Neurol ; 1074-1085 ; December 2011

    Orphan Drugs

    Regulatory News
    2012 kicks off with 16 positive opinions for orphan designation from the COMP
    The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted sixteen positive opinions recommending orphan designation at the January 2012 COMP meeting for the treatment of:

    - soft tissue sarcoma
    - acute myeloid leukaemia
    - Prader-Willi syndrome
    - cutaneous T-cell lymphoma
    - systemic amyloidosis caused by beta-2 microglobulin
    - pulmonary arterial hypertension
    - amyotrophic lateral sclerosis
    - primary hyperoxaluria type 1
    - multiple myeloma
    - congenital hyperinsulinism
    - carbamoyl-phosphate synthase-1 deficiency
    - pneumonia caused by Staphylococcus aureus
    - Cushing syndrome
    - leishmaniasis
    - mucopolysaccharidosis type VII
    - hereditary inclusion body myopathy

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

    CHMP recommends approval of medicine for Cushing disease
    The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) in January adopted a positive opinion recommending the granting of marketing authorisation for Signifor (pasireotide) for the treatment of Cushing disease in patients who cannot have surgery or for whom surgery has not been successful. Cushing disease is a rare, debilitating, life-threatening disease, in which a small tumour of the pituitary gland produces too much adrenocorticotrophin, which in turn stimulates the adrenal glands to both grow and release excessive amounts of cortisol in the blood. Signifor (Novartis Europharm) was designated as an orphan medicinal product in October 2009.
    Political and Scientific News
    One article looks at the benefits of repurposing drugs for rare diseases ...
    An article appearing in Drug Discovery Today: Therapeutic Strategies examines the landscape of drug repurposing. Repurposing refers to the process of taking existing or abandoned molecules and assigning new indications to them. This practice is not designed to replace drug discovery and development but rather to complement existing regulations facilitating orphan drug development as another strategy for increasing the number of available products to treat rare diseases. Besides the obvious benefits to the patient and healthcare provider a larger arsenal of treatment offers, the authors point out the benefits to the sponsor of repurposing existing molecules: "The traditional methods for drug discovery require a large infrastructure while repurposing FDA-approved drugs is relatively inexpensive; repositioning is especially valuable for smaller companies. With repurposed drugs, developers can bypass almost half of the overall cost by eliminating preclinical assessment. Venture capitalists prefer the repositioning over investing in technology platforms".
    Consult the abstract

    ... while Belgian stakeholders question their prices
    A brief commentary appearing in the BMJ queries What price do we pay for repurposing medicines for rare diseases? The short answer from the authors is "too much". While acknowledging the strategic efficacy of repurposing existing medicinal products for the treatment of rare conditions, the authors deplore the high price tags attached to some of these recycled drugs. The authors maintain that ".. the price increases are not warranted for existing medicines which have been repurposed for a rare indication and for which effectiveness evidence was published in the literature prior to the application for an orphan designation, thereby minimising costs of research and development and costs of market access. Although a change in pharmaceutical form between the common disease and the rare indication may justify a price increase, the higher costs of research and development and of market access are unlikely to fully account for the observed price differences between the common disease and the rare indication".
    Consult the article

    The process of obtaining orphan drug designation in the USA
    A recent article in Drug Discovery Today describes the route to orphan drug designation in the USA. Succinctly written, the authors provide an overview of the requirements and processes for successfully obtaining a designation. Using the designations issued in the year 2009 as an example, this article provides insight into the designation process and could be particularly helpful to companies preparing an application for an orphan product designation.
    Consult the PubMed abstract

    The USA faces an unnecessary shortage of essential chemotherapy drugs
    An open-access Perspective article appearing in the 3 November New England Journal of Medicine discusses the shortage of certain, mostly generic, chemotherapy products in the USA. The shortage impacts many different kinds of cancers – including childhood cancers, all of which are rare. Citing economic causes as the primary drivers behind the shortages, including the established practice of oncologists buying chemotherapeutic products wholesale and selling them at a higher price to supplement relatively low salaries, the authors assert that the shortages are escalating the already-expensive costs of cancer care. Solutions proposed include tightening regulations, introducing measures to stimulate the generic cancer drug market, and providing oncologists with incentives to use those generics.
    Consult the article

    What a difference a decade makes!
    The review Science takes a look at the past ten years of gene therapy development, highlighting the successes, revisiting the early failures, and winding up on a note of optimism despite the many hurdles that still remain in the field.
    Learn more


    Courses & Educational Initiatives

    European Cytogeneticists Association Course
    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 2012 course (scheduled from 20-28 February) is now available.
    For further details

    Tenth European Course on the Evaluation of Medicinal Products in Children
    Organized with the European Society for Developmental, Perinatal & Paediatric Pharmacology, and the University Rene Descartes Paris V, and taking place from 21-24 February and 27-30 March 2012, modules for this seminar include: Specific aspects of paediatric pharmacology; Issues relating to trials and drug use in children; Drug development and post-marketing surveillance; Pre/peri-natal drug evaluation and use; Paediatric Investigation Plan design; and more.
    For further details

    Evaluation of Drugs for Rare Diseases Seminar
    Taking place from 1-2 March 2012 in Lyon, France, this Eudipharm seminar includes the following elements: Differentiate between rare and common diseases, and the barriers and opportunities for developing orphan drugs; Describe the role of patient groups in developing new products for rare diseases; Consider the pathophysiology, pharmacological and therapeutic models for rare diseases; Assess whether the preclinical and clinical development models for non-rare disease therapies could be implemented for treatments in rare diseases; Outline the regulatory, legal, and ethical requirements for rare diseases and orphan drugs; Evaluate the specific scientific, financial and administrative support needed for running clinical trials and obtaining marketing authorization in rare diseases; Consider multicenter, randomized controlled trials for rare diseases; Assess the acceptable level of evidence from non-randomized or uncontrolled trials; Explain and implement methodological aspects and innovative methods from phase I clinical trials to post-marketing studies for rare diseases; and Outline pharmacovigilance, pharmacoepidemiology and risk management plans in rare diseases.
    For further details

    The European School of Genetic Medicine celebrates its 25th anniversary with special courses
    The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open, including: Basic and Advanced Course in Genetic Counselling in Practice (14-20 April 2012); Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012); 25th Course in Medical Genetics (20-25 May 2012). All ESGM courses can be followed live on the Internet through webcasting.
    For further details

    OroDysmorphology Course
    The first OroDysmorphology course is being held on 24 May 2012 within the context of the 11th Congress of the European Academy of Paediatric Dentistry. Taking place in Strasbourg, France, this pre-congress course will gather European and world experts in the field of syndrome diagnosis and dysmorphology focusing on the oral cavity. The paediatric dentist can contribute to the dysmorphology approach and analysis of a patient/family affected by a syndrome or a rare disease by analysing carefully dental/orofacial malformations, liaising and interacting with the genetic and other health professionals team managing the patient. This hands-on course will allow participants to present and discuss their own cases in front of the expert panel and to benefit from brainstorming and collegial expertise in syndrome and orodental anomalies diagnosis. Therapeutic management of selected cases will be also discussed.
    For further details

    Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
    The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 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. The 2012 Clinical Cytogenetics course has not yet been announced.
    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 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?

    International Childhood Cancer Awareness Day Multistakeholder Meeting
    Date: 9 February 2012
    Venue: Brussels, Belgium

    On the occasion of International Childhood Cancer Day, Member of the European Parliament Mrs. Glenis Willmott will join a multi-stakeholder audience to raise awareness at EU level of the many challenges of these rare cancers and jointly identify a political pathway to instigate change. Discussions will centre around providing solutions for optimal clinical research through the revision of the EU Clinical Trials Directive, combating differences in outcome across Europe and improved diagnosis at an early stage, particularly for brain tumours.
    For further details

    Rare Cancers Conference: Improving the Methodology of Clinical Research
    Date: 10 February 2012
    Venue: Brussels, Belgium

    The European Society for Medical Oncology and Rare Cancers Europe have joined forces to present the first Conference addressing the scientific and educational needs of relevant stakeholder groups concerning challenges and potential solutions in the field of clinical research on rare cancers.
    For further details

    4th International Tuebingen-Symposium on Pediatric Solid Tumors
    Date: 16-18 February 2012
    Venue: Tuebingen, Germany

    International experts from the fields of pediatric oncology, pediatric surgery, radiooncology, nuclear medicine, immunology, radiology, and genetics will gather to discuss current topics in the area of pediatric neuroblastoma. .
    For further details

    International Meeting on Rare Diseases: Mechanisms and New Therapeutic Approaches
    Date: 22-24 February 2012
    Venue: Freiburg, Germany

    Topics include: New Technologies - New Disease Causes; Molecular Diseases Mechanisms and Therapies; Gene and Protein Therapies; Molecular Diseases Mechanisms; Compensational Therapy Strategies; New Genes and Molecular Diseases Mechanisms; and more.
    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

    European Organisation for Research and Treatment of Cancer (EORTC) 50th Anniversary Conference
    Date: 15-16 March 2012
    Venue: Brussels, Belgium

    The conference offers a unique opportunity to gather all the partners (including national research organizations, health authorities, patient advocacy groups, European Commission, cancer leagues, and the pharmaceutical industry) to celebrate the 50th anniversary of the EORTC network.
    For further details

    Genomic Disorders 2012
    21-24 March 2012
    Cambridge, UK

    Genomic Disorders 2012 presents an exciting blend of genomic science and clinical medicine. The event aims to bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. This year’s meeting will discuss the latest findings relating to the genomic basis of rare disorders, and the role of rare variants in common disease, as these can provide such powerful insights into human biology. Genome wide analyses, including most recently Whole Exome Sequencing, are proving to be of great value in discovering the genetic basis of rare disorders and illustrate the power of humans as a model organism to study. As sequencing technology advances apace, other key aspects of genome science need to develop and grow in parallel.
    For further details

    The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
    28-30 March 2012
    Cincinnati, USA

    Addressing topics relating to the understanding, diagnostics and treatment of Birt-Hogg-Dubé syndrome. Programme to be available soon.
    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.
    For further details

    International Symposium on Hepatic Glycogen Storage Diseases
    Date: 4-6 April 2012
    Venue: Lyon, France

    International experts will review the following topics: Glucose metabolism in neonates; A global overview of glycogen metabolism; Liver pathology: steatosis, fibrosis, hepatocellular adenomas and carcinomas and the role of dietary treatment on pathophysiology; Review of kidney, intestinal and muscle complications; and New advances in gene therapy.
    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

    Myomatrix 2012 Conference
    Date: 22-24 April 2012
    Venue: Nevada, USA

    Myomatrix 2012 is a unique conference dedicated to exploring the junction between muscle and extracellular matrix, the myomatrix, the central starting point of inquiry into underlying disease pathogenesis in the CMDs and muscular dystrophies.
    For further details

    8th International Congress on Autoimmunity
    Date: 9-13 May 2012
    Venue: Granada, Spain

    Updating physicians, immunologists, rheumatologists, researchers and clinicians interested in autoimmune diseases with the latest available diagnostic tools and new therapeutic avenues. Autoimmunity 2012 provides a key platform for those in search of cures to these diseases, to collaborate, exchange information and to network.
    For further details

    CILIA 2012 - Cilia in Development and Disease
    Date: 16-18 May 2012
    Venue: London, UK

    Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
    For further details

    Sixth International Alkaline Phosphatases Symposium
    Date: 16-19 May 2012
    Venue: Huningue, France

    This upcoming symposium will highlight the wealth of clinical data that has been obtained on the management of hypophosphatasia patients, while also discussing new information about other pathophysiological conditions related to alterations in alkaline phosphatases structure and function.
    For further details

    6th European Conference on Rare Diseases & Orphan Products
    Date: 23-25 May 2012
    Venue: Brussels, Belgium

    The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian.
    For further details

    10th International primary hyperoxaluria workshop
    Date: 22-23 June 2012
    Venue: Bonn, Germany

    A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hypyeroxaluria.
    For further details

    European Human Genetics Conference 2012
    Date: 23-26 June 2012
    Venue: Nurnberg, Germany

    A rich programme awaits participants. Symposia include: The molecular basis of facial malformations; Mechanisms and consequences of chromosomal/genetic mosaicism; Primary microcephaly; and much more. Educational sessions include Next-generation sequencing diagnostics; Trinucleotid repeat disorders and more. Plenary sessions include: Targeted pharmacological therapies in genetic disorders (with presentations on Marfan, tuberous sclerosis complex and fragile X); and more.
    For further details

    World Federation of Hemophilia World Congress
    Date: 8-12 July 2012
    Venue: Paris, France

    The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
    For further details

    7th European Elastin Meeting
    Date: 1-4 September 2012
    Venue: Ghent, Belgium

    Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
    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

    3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
    Date: 25–26 October 2012
    Venue: Limassol, Cyprus

    The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
    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

    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


    Media, Press & Publications

    Comic book depicts the experience of living with a genetic form of dwarfism
    Alisa’s Tale: A Short Story is an illustrated story depicting life from the perspective of a young woman with a form of dwarfism. A collaboration involving the artist, a psychologist, 17 teenagers who contributed their experience and expectations of healthcare, treatment and medical research, and a project manager from UK genetics centre Nowgen, Alisa’s Tale seeks to raise awareness of restricted growth conditions and help create a better understanding towards people who are different, reducing the sense of isolation for people with restricted growth.
    Learn more

    An overview of genetics for professionals in the clinical setting
    Genetics for the Health Sciences (Scion Publishing) introduces the general principles of genetics and links these to real world examples, to allow nurses, midwives, genetic counsellors and doctors to apply this knowledge in their routine clinical practice. Based on their extensive experience of clinical work, the authors emphasise the practical issues related to the healthcare of individuals and families. The book takes a holistic approach, from preconception to adulthood. As well as discussing the basic principles, Genetics for the Health Sciences also describes the latest technologies and their application to clinical practice. This text can help those in clinical healthcare understand the genetics they need in their professional roles and can also serve as a coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice.
    Learn more

    An Italian documentary and a French film depict rare genetic disease xeroderma pigmentosum
    The Dark Side of the Sun is an Italian-made English-language documentary focusing on Camp Sundown (Poughkeepsie, NY) a special centre that caters to children with xeroderma pigmentosum, a rare genetic disease that causes severe sun-sensitivity disorders. The documentary made its debut at the Rome Film Festival in November Learn more.
    In France, a film featuring an adolescent with the same disease and depicting the relationship between the patient and his treating physician, entitled La Permission de Minuit was released last year to critical acclaim. Learn more.

    Recently released texts in the field of rare diseases
    Amongst recent texts addressing specific rare diseases or groups of rare diseases are:

  • Inflammatory and Autoimmune Disorders of the Nervous System in Children
    (Mac Keith Press; ISBN-13: 978-1898683667)
  • Atlas of Inherited Metabolic Diseases
    (Hodder Arnold Publishers; ISBN-13: 978-1444112252)
  • The Bleeding Disease: Hemophilia and the Unintended Consequences of Medical Progress
    (The Johns Hopkins University Press; ISBN-13: 978-1421401157)
  • PET-CT: Rare Findings and Diseases
    (Springer; ISBN-13: 978-3642246982)

    Story book helps explain childhood auto-inflammatory diseases

    Hero In Me is a storybook designed for children of all ages to help them to understand more about CAID (Childhood Auto-Inflammatory Diseases), and to help those families suffering with CAID to realise that they are not alone. The story is accompanied by colourful illustrations. The childhood auto-inflammatory diseases are rare conditions with varying clinical manifestations. The book, produced by the international group Stop CAID Now is being made available in English, French, German, Spanish, and Swedish.
    Learn more


    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, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell

    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), Jakub Adamski (Poland), Luis Nunes (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, 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, Stefan Schreck, Kerstin Westermark (EMA-COMP)

    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (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 Sequeiros (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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