20 May 2009 print
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France’s national rare disease plan brings home its first report card

France’s National Plan for Rare Diseases – the first of its kind in the world – has undergone intense scrutiny since its four-year term concluded at the end of 2008. The overarching goal of the evaluation is to provide data that will inform the elaboration of the second version of the rare disease plan, due out in 2010. An Evaluation Committee (Codev) consisting of health, economic and sociology experts, under the authority of the French Council for Public Health, thus measured the initial objectives of the plan against the corresponding actions undertaken during the past four years. An official report of the evaluation was rendered to the French Minister of Health on 7 May. The document provides an analysis of the accomplishments, advances, and shortcomings of each of the ten axes of the plan. A series of propositions and recommendations is also furnished for the elaboration of the future plan.

Throughout the evaluation, the committee underscores the satisfaction of the different stakeholders vis-a-vis the overall results accomplished. The objectives judged most pertinent – the access to information (particularly Orphanet and MRIS, the French rare disease informational service helpline), medical care (centres of reference), research funding, orphan product accessibility, and partnerships with European institutions – have benefited from corresponding actions that have satisfactorily fulfilled these goals. The need to sustain these actions was reiterated in the evaluation. However, certain objectives languished – specifically those concerning epidemiology, professional training for rare diseases, and screening and diagnostic programmes - which were considered insufficiently developed. The strategies to meet these goals need to be reformulated taking stock of the difficulties encountered and defining tactics to overcome obstacles.

The tenth axis of the plan, “Develop national and European partnerships in the field of rare diseases” received an overall favourable evaluation with certain propositions presented to enhance and encourage European collaboration. Furthermore, the evaluating committee proposed the development of measures to bring non-European industrialised and developing countries into the fold. Indeed, throughout the evaluation of the plan, the necessity for European- and international-level coordination and resource-sharing is emphasised.

The evaluation, along with an additional report created by the Ministry of Health containing auto-evaluations from the plan’s pilot committee, and the testimonies of rare disease health professional, industry and patient organisation stakeholders who contributed actions to the first plan, will be discussed at the final meeting of the Follow-up committee for the first French National Plan, scheduled to take place on 28 May.
Consult the evaluation (in French language)

The RDTF meet to discuss a jam-packed agenda
The Rare Disease Task Force met in Luxembourg on 30 April to deliberate a number of issues. The status of the Council Recommendation on a European Action in the field of Rare Diseases was reviewed, along with the Implementation Plan of the Council Recommendation and the Commission Communication. State of the play of the Commission Decision setting up a European Union Advisory Committee on Rare Diseases also figured on the agenda. The Call for Tenders and direct agreements in the framework of the Second Health Programme in 2009 (Newborn screening, Support to repertory activities, and Classification and Codification of rare diseases) were also considered. Also on the agenda was a review of the outcomes of the European Rare Diseases Day in 2009, the state of the play of the Joint Action on support to the Rare Diseases Task Force, and perspectives for the future. The busy day concluded with a status report on the ongoing revision process of the World Health Organization International Classification of Diseases and an update on the EUROPLAN Project. A detailed account of the meeting’s outcomes will appear in the next issue of OrphaNews Europe, and the full report will be available soon on the RDTF website.
Patients with forms of toxic epidermal necrolysis need alternative to standard flu treatments
In the framework of their competence in the area of rare forms of infectious diseases, the RDTF wishes to draw attention to the case of patients with rare disease toxic epidermal necrolysis (including the forms Stevens Johnson syndrome and Lyell syndrome) who are not able to take medications with neuraminidase inhibitors, including Tamiflu (oseltamivir), Relenza (zanamivir), and peramivir. Therapeutic alternatives for these populations should be part of any national protocol to prevent possible pandemics of novel flu. Toxic epidermal necrolysis is an acute and severe skin disease with clinical and histological features characterised by the destruction and detachment of the skin epithelium and mucous membranes. Most cases of the disease are triggered by an allergy to a specific medicinal product compound. Neuraminidase inhibitors pose a significant risk factor to these patients.

The NCL-Foundation ... promoting cooperative research for Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis (NCL) is a metabolic disorder involving the abnormal intracellular accumulation of autofluorescent wax-like lipid materials within neurons of the brain as well as other tissues of the body. It is characterised by progressive loss of sight and motor skills, personality and behavioral changes and worsening seizures. There are distinct subtypes that differ primarily in two main points: age of onset and the speed of disease progression. Batten disease, named after British paediatrician Frederick Batten who first described the disorder in 1903, refers to the juvenile form of NCL, although professionals commonly use the same term to describe all forms of NCL. Unfortunately, all forms of the disease share the trait that they are not curable at present.

The NCL-Foundation is a non-profit organisation located in Hamburg, Germany that is dedicated to Batten disease. The foundation lists its principal goals as:
  • Increasing public awareness of NCL in order to promote the early diagnosis of the disease
  • Building an NCL network of medical specialists and basic science researchers of different disciplines, in order to coordinate national and international expertise
  • Initiating research to develop possible cures

  • The NCL-Foundation is committed to cooperative research funding. To initiate important NCL research projects, the Foundation is continuously on the lookout for suitable cooperation partners from both the profit and non-profit sectors. OrphaNews Europe recently had the opportunity to interview Dr. Frank Stehr, in charge of research for the NCL-Foundation:

    OrphaNews Europe: How has the NCL-Foundation developed since its debut?

    Dr. Frank Stehr: The NCL-Foundation was established in August, 2002 by Dr. Frank Husemann, an economist whose son Tim is suffering from Batten disease. The first years of the foundation were devoted to scientific market analysis in order to determine who was working on what and what research was missing. We then started co-financing NCL-projects, and are now focusing on PhD scholarships, which are potentially available to promising candidates from any country. We are interested in seeding new projects and encourage groups to send in proposals for new research activities. We award an NCL research prize (worldwide) each year to the most promising project. The NCL-Foundation has evolved from national to international funding, and has participation from the USA, Great Britain and Israel.

    We also organise scientific NCL workshops on a regular basis; offer medical training to relevant groups, such as ophthalmologists and (neuro)paediatricians; have a school project (biology up-to-date) that is intended to raise awareness for rare diseases in young people (high school age); organise, host and support a variety of charity events; interact with ACHSE (the German national alliance of patient groups for rare diseases); and present on various NCL-related topics at relevant conferences (such as the recent meeting of lysosomal storage disease consortium Brains for Brain).

    We are interested in collaborating in EU-level projects and would be open to any interesting proposals on this level. We would also be interested in collaborating with any relevant biopharmaceutical industry initiatives.

    OrphaNews Europe: How is the Foundation funded?

    Dr. Frank Stehr: The foundation is funded through a variety of sources including private and company donations, sponsoring, charity events that we organise, and collaborations with other foundations. We also apply for grants.

    OrphaNews Europe: Promoting research initiatives is one major goal of the NCL-Foundation. What kind of research projects is NCL-Foundation funding?

    Dr. Frank Stehr: We are funding initiatives that cover various research needs:
  • Therapy oriented initiatives
  • Projects that address research gaps
  • Collaborations

  • OrphaNews Europe: How do you encourage and establish collaboration between different disciplines and different countries?

    Dr. Frank Stehr: Our scientific board is very helpful with this. We try to bring different researchers together by organising direct contact (visits); via scientific marketing; offering co-funding; and through working with pharmaceutical companies. The NCL-Foundation is interested in collaborating more with industry.

    OrphaNews Europe: Can you discuss further the Foundation’s doctoral fellowship programme?

    Dr. Frank Stehr: Usually we try to match funds; collaborative research funding meaning that the group itself is a partner by providing the “consumables”, overhead costs, laboratory space, supervision etc. and we offer, sometimes together with other partners, a fellowship.

    We want to encourage NCL researchers - and non-NCL researchers - to submit an outline of their proposed project which would first be reviewed to determine whether it makes sense to send in a full proposal (this process saves time for both sides). In some cases we make recommendations to modify a proposal.

    Each proposal is peer-reviewed by two or three external experts in the relevant field and/or the scientific board. The final decision on funding is made by the board of the foundation. After this we create a research contract. We request interim reports from funded projects on a regular basis. We also visit the group punctually to review progress made and to see if we can be of any further help or if additional methods, partners, or patient tissue are needed.
    Read the complete interview with Dr. Frank Stehr
    Contact Dr. Frank Stehr


    Parliament adopts directive facilitating cross-border healthcare and amends text to improve access to rare disease care
    The European Parliament last month adopted a draft directive that facilitates cross-border healthcare in the European Union. The controversial proposal, approved by a majority of 297 votes (120 votes against and 152 abstentions), aims to eliminate obstacles hindering patients from seeking treatment in another Member State. The directive also clarifies patient rights to reimbursement for treatment obtained abroad. The directive has no impact on the rights of each Member State to determine which health benefits they will provide. Thus, if a particular treatment is not reimbursed in a patient’s home country, it will not be reimbursed if accessed in another Member State. Member States would be able to require prior authorisation for “hospital care” – a term that Parliamentarians prefer Member States to define, rather than the Commission - and reimbursement would match the amount that patients would receive in their home country. However, the Parliament amended the text for patients affected by rare diseases. Amendment 66 states that...“Patients affected by rare diseases should have the right to access healthcare in another Member State and to get reimbursement even if the treatment in question is not among the benefits provided for by the legislation of the Member State of affiliation”. Furthermore Amendment 88 stipulates that “Patients with rare diseases shall not be subject to prior authorisation”. Another amendment favourable to rare diseases is Amendment 102: Member States shall facilitate the development of the European reference networks of healthcare providers, in particular in the area of rare diseases. And Amendment 106 refers to the list of specific criteria and conditions that the European reference networks must fulfil, adding a list of rarer disease areas to be covered.
    Consult the directive proposal on the application of patient rights in cross-border healthcare
    Consult the European Parliament amendments to the cross-border draft directive

    Haemophilia consortium calls for disease-sector specific Health Technology Assessment methodology and enhanced cooperation
    The recently-held Sixth European Haemophilia Consortium Round Table meeting focused on Health Technology Assessments (HTAs) and their value for haemophilia treatment. But the observations and concerns voiced by stakeholders could be relevant to any rare disorder. HTAs are supposed to evaluate the medical, social, economic and ethical information of medicinal products in order to contribute useful information that enables countries to develop health policies and budgets. With no EU-level standardised practice for HTAs, comparison between countries is currently not possible. Indeed, some governments rely more on evidence from the biopharmaceutical industry, while others source clinicians or patients for determining the HTA of a product. Using haemophilia prophylaxis as an example, speakers at the meeting evoked both their economic savings and improvement to quality of life. One speaker asserted that HTAs “must answer to the relation between the effects of the treatment with the associated costs to it”. The validity of the QALY (quality-adjusted life year) tool was called into question and experts gave examples of how QALY is not satisfactory for determining the value of haemophilia products. The case of haemophilia care in Romania was evoked, where a lack of adequate treatment translates into over 70% of young haemophiliac patients with locomotor disabilities and thus a poor quality of life. However, HTA can help underscore the fact that though existing care for haemophilia may be expensive, a lack of treatment is ultimately more costly. The meeting concluded with a set of resolutions to further efforts to develop sector-specific HTAs for rare diseases that take these factors into account, are based on enhanced cooperation between industry, clinicians, patient groups and policy makers, and which are more easily accessible between different Member States.
    Read the summary report

    Proposal to harmonise qualifications for clinical genetics as medical specialty adopted by European Union of Medical Specialist
    The European Union of Medical Specialists (UEMS), a non-profit organisation founded in 1958 to determine high quality standards harmonising specialist training for European physicians, represents some 1.5 million European medical specialists in 38 specialist sections throughout 35 national member associations. In April, the UEMS Council adopted the text entitled Description of Clinical Genetics as a Medical Specialty in EU: Aims and objectives for specialist training. The document, which defines educational goals for a specialisation in genetic medicine, has already been endorsed by the European Society of Human Genetics, the UEMS Multidisciplinary Joint Committee for Clinical Genetics, and the UEMS Specialist Sections & European Boards. This is good news for rare disease patients in countries where clinical genetics is not yet recognised: Belgium, Greece and Spain.
    Consult the UEMS document on medical genetics qualifications


    Recommendations for France’s second national cancer plan include proposals for rare cancers

    In order to determine the strategic elements of France’s second National Cancer Plan for 2009-2013, a set of Recommendations was elaborated and forwarded to the President of the French Republic in late February. Notably, and in contrast to the first national plan for cancer, the recommendations include a sub-chapter devoted exclusively to rare cancers. Cancers of childhood and rare tumours: the rarity that requires excellence proposes seven measures and three recommendations designed to specifically enhance research and treatment for this group of cancers. These include the creation of an informational reference guide for paediatric cancers; the establishment of cord blood and stem cell banks for paediatric cancers; the creation of programmes addressing the specific needs of young adult patients; identifying national reference centres for adult tumours; and the development, in collaboration with Orphanet, of a national databank of information destined for patients and families. The formal creation of the new plan, incorporating the recommendations, began in April and is scheduled to be officially presented by President Nicolas Sarkozy in June.
    Consult the recommendations (in French language)


    A guide for professionals on end-of-life care for patients with intellectual deficit
    Mencap, a United Kingdom-based charity with over 500 affiliate member groups, is dedicated to improving conditions for people with intellectual deficit. The group has issued a report on the special issues associated with end-of-life care for this population. The result of a two-year project between the charity and Keele Univeristy, the guide “reflects on the persistent challenges inherent in accessing end-of-life care for [patients with intellectual deficit] with a focus on communication issues”. The guide offers a best practice checklist designed to “promote better end-of-life care for all people with [intellectual deficit]”. A large number of rare diseases include intellectual deficit amongst their clinical manifestations.
    Consult the report

    Rare neuromuscular disease research groups reach out to Russia
    Network of excellence for rare inherited neuromuscular diseases Treat-NMD, the Association Française contre les Myopathies and the Institut de Myologie together organised a round-table event recently with representatives from Russian clinical and research centres and also patient organisations. Aimed at facilitating collaborative efforts, the meeting gave participants the opportunity to learn about research, training, patient diagnosis and current treatment and care in Russia while exploring “training and education opportunities for Russian scientists and clinicians, grant submissions for joint EU-Russia calls, experience sharing between Russian patient organisations and the AFM, and opportunities for integration of Russian centres into TREAT-NMD activities, in particular the patient registries and care and trial sites initiatives.” Follow up joint actions will include training fellowships for Russian and Belarusian physicians and scientists, particularly in the field of non-invasive outcome measures of skeletal muscle in clinical trials, as well as travel grants for participation in the Myology summer school, the organisation of seminars in Russia and Belarus, an active support to fund-raising initiatives in Russia, and collaboration on medical imaging with the Belarusian Academy of Science. Furthermore, Russian and Belarusian patient registries for spinal muscular atrophy and Duchenne muscular dystrophy will be established and feed into the TREAT-NMD patient registries initiative, and Russian and Belarusian clinical centres will join the TREAT-NMD care and trial sites network to improve dissemination of care standards and work towards possible future clinical trials in neuromuscular diseases. In a separate initiative, it is hoped that TREAT-NMD participation in the international neuromuscular conference in the Ukraine on 21-23 May will extend this collaboration to include Ukrainian clinicians with an interest in neuromuscular diseases. The overarching goal of these activities is to establish strong links with a number of Russian, Belarusian and possibly Ukrainian teams and develop joint clinical as well as pre-clinical research protocols in the field of neuro-muscular disorders.
    New EUROCAT survey depicts congenital heart diseases in Europe
    EUROCAT, the European network of population-based registries for the epidemiologic surveillance of congenital anomalies, has issued a new special report that depicts the epidemiology of congenital heart malformations in Europe. As part of the “Global Burden of Disease, Injuries and Risk Factors” (GBDIRF) project 2007-2010, led by the World Health Organization and the Universities of Harvard, Washington, Johns Hopkins and Queensland, the report captures the burden of congenital heart diseases (CHD) in Europe as it pertains to patients, families, and health systems. Based on data from 30 different population-based registries from sixteen countries, the survey finds that CHD encompasses a diverse group of conditions of which 12% involve chromosomal anomalies and some 18% have other malformations of different organ systems. The report breaks down prevalence by country and by specific disorder and also by severity of disorder and by pregnancy outcome (live birth, foetal death, pregnancy termination, perinatal death, surgery). Ventricular septal defect and atrial septal defect are the most frequent CHD subtypes, accounting, along with pulmonary valve stenosis, for approximately three-quarters of non-chromosomal CHD cases. The EUROCAT network surveys some 1.5 million births per year and maintains a database of approximately 400,000 cases of congenital anomaly.
    Consult the report


    New Orphanet Report Series listing medicines available for rare diseases in Europe now online in five languages

    The Orphanet Report Series that itemises all the medicinal products available in Europe with marketing authorisation for rare conditions has been improved and expanded. The Lists of Orphan Drugs in Europe now includes a roster of all medicinal products with a rare disease indication but which have no prior orphan designation in Europe. Another change to the list is the inclusion of the full EMEA Marketing Authorisation indication details. The list has otherwise been re-organised into different categories that allow easier access to desired information. The data on products with orphan designation and marketing authorisation have been broken down into lists categorised by tradename; by date of marketing authorisation; by Anatomical Therapeutic Chemical (ATC) classification; and by marketing authorisation holder. The Lists of Orphan Drugs in Europe report, available in English, French, German, Italian and Spanish, is scheduled to be updated quarterly.


    SeSAME syndrome: seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance
    The authors describe members of 4 kindreds with a previously unrecognised syndrome which they name SeSAME, characterised by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). They found previously unidentified missense or nonsense mutations on both alleles of gene KCNJ10 in all affected subjects. KCNJ10 is expressed in glia in the brain and spinal cord, where it is believed to take up K(+) released by neuronal repolarization, in cochlea, and on the basolateral membrane in the distal nephron.
    Read the PubMed abstract

    Proc Natl Acad Sci USA ; 5842-5847 ; 7 April 2009


    Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3
    The authors identified a consanguineous Pakistani family in which oligodontia, the lack of more than six permanent teeth, is inherited along with short stature in an autosomal-recessive fashion. Increased bone density was present in the spine and at the base of the skull. They identified a homozygous nonsense mutation within LTBP3, the gene for the latent TGF-beta binding protein 3, an extracellular matrix protein believed to be required for osteoclast function.
    Read the PubMed abstract

    To read more about "Hypodontia"

    Am J Hum Genet ; 519-523 ; April 2009
    Escobar syndrome associated with nemaline myopathy: absence of beta-tropomyosin is a new cause
    While TPM2 mutations identified so far in muscular diseases have all been associated with a dominant inheritance pattern, the authors report a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with Escobar syndrome, a non-lethal multiple pterygium disorder. The TPM2 mutation led to a complete absence of the skeletal muscle isoform of beta-tropomyosin not compensated by expression of other beta-tropomyosin isoforms.
    Read the PubMed abstract

    To read more about "Autosomal recessive multiple pterygium syndrome"

    Neuromuscul Disord ; 118-123 ; February 2009
    Distal myopathy with vocal cord weakness associated with a mutation in the gene encoding the nuclear matrix protein matrin 3
    Distal myopathies represent a heterogeneous group of inherited skeletal muscle disorders. One type of adult-onset, progressive autosomal-dominant distal myopathy is frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy). The authors identified in two families a point mutation in the gene MATR3, expressed in skeletal muscle and encoding matrin 3, a component of the nuclear matrix.
    Read the PubMed abstract

    To read more about "Distal myopathy with vocal cord weakness"

    Am J Hum Genet ; 511-518 ; April 2009
    Short-rib polydactyly syndrome: ciliary abnormalities are due to defects in the retrograde transport protein DYNC2H1
    The short-rib polydactyly (SRP) syndromes are a heterogeneous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. The authors describe mutations in the gene DYNC2H1, encoding a dynein implicated in retrograde cilia transport. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth.
    Read the PubMed abstract

    To read more about "Short rib-polydactyly syndrome"

    Am J Hum Genet ; 542-549 ; April 2009
    IFAP syndrome has deficiency in intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
    Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. The authors provide evidence that missense mutations in the gene MBTPS2 exchanging highly conserved amino acids of membrane-bound transcription factor protease are associated with this phenotype. The degree of diminished activity correlated with clinical severity. These findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress.
    Read the PubMed abstract

    To read more about "Ichthyosis follicularis - alopecia - photophobia"

    Am J Hum Genet ; 459-467 ; April 2009
    Brachydactyly type A2 associated with duplications involving a conserved regulatory element downstream of BMP2
    Autosomal dominant brachydactyly type A2 (BDA2) is a limb malformation characterised by hypoplastic middle phalanges of the second and fifth fingers. The authors reveal an additional functional mechanism for the pathogenesis of BDA2, the microduplication of a downstream regulatory element that affects the expression of BMP2, the gene for Bone morphogenetic protein 2.
    Read the PubMed abstract

    To read more about "Brachydactyly type A2"

    Am J Hum Genet ; 483-492 ; April 2009



    Nonsyndromic deafness: a mouse model links hearing loss to defects in tip links of mechanosensory hair cells
    Deafness is the most common form of sensory impairment in humans and is frequently caused by single gene mutations. Interestingly, different mutations in a gene can cause syndromic and nonsyndromic forms of deafness, as well as progressive and age-related hearing loss. The authors provide an explanation for the phenotypic variability associated with mutations in the cadherin 23 gene (CDH23). CDH23 null alleles cause deaf-blindness Usher syndrome type 1D (USH1D), whereas missense mutations cause nonsyndromic deafness (DFNB12). In a forward genetic screen, the authors identified salsa mice, which suffer from hearing loss due to a Cdh23 missense mutation modeling DFNB12. In contrast to waltzer mice, which carry a Cdh23 null allele mimicking USH1D, hair cell development is unaffected in salsa mice. Instead, tip links, which are thought to gate mechanotransduction channels in hair cells, are progressively lost. These findings suggest that DFNB12 belongs to a new class of disorder that is caused by defects in tip links.
    Read the PubMed abstract

    To read more about "Nonsyndromic genetic deafness"
    To read more about "Usher syndrome"

    Proc Natl Acad Sci USA ; 5252-5257 ; 31 March 2009

    Nonacquired combined pituitary hormone deficiency: a novel mutation in the LIM homeobox 3 gene is responsible
    To determine the cause of, and further explore, the phenotype in six patients aged 6 months to 22 years with combined pituitary hormone deficiency, restricted neck rotation, scoliosis, and congenital hearing impairment, the authors applied a candidate gene approach to LHX3, the LIM homeobox 3 transcription factor gene required for development of the pituitary and motor neurons, and also expressed in the auditory system. A novel, recessive, splice-acceptor site mutation was found. The predicted protein encoded by the mutated gene lacks the homeodomain and carboxyl terminus of the normal, functional protein. This study extends both the mutations known to be responsible for LHX3-associated syndromes and their possible phenotypical consequences.
    Read the PubMed abstract

    To read more about "Nonacquired combined pituitary hormone deficiency"

    J Clin Endocrinol Metab ; 1154-1161 ; April 2009
    Idiopathic ventricular fibrillation: haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in the familial form
    Idiopathic Ventricular Fibrillation (IVF) is defined as spontaneous VF without any known structural or electrical heart disease. A family history is present in up to 20% of probands with the disorder, suggesting that at least a subset of IVF is hereditary. A genome-wide haplotype-sharing analysis was performed for identification of the responsible gene in three distantly related families in which multiple individuals died suddenly or were successfully resuscitated at young age. The authors identified a haplotype, on chromosome 7q36, that was conserved in these three families and was also shared by 7 of 42 independent IVF patients. The shared chromosomal segment harbours part of the DPP6 gene, which encodes a putative component of the transient outward current in the heart. A 20-fold increase in DPP6 mRNA levels in the myocardium was found in carriers as compared to controls.
    Read the PubMed abstract

    To read more about "Brugada syndrome"

    Am J Hum Genet ; 468-476 ; April 2009
    Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome
    Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. The authors present phenotypic data on 103 patients, including characteristics of disease onset, medical comorbidities, episode triggers, diagnostic workup, and treatment. Paroxysmal eye movements were the most frequent early symptom, manifesting in the first 3 months of life in 83% of patients. Hemiplegic episodes appeared by 6 months of age in 56% of infants. Background slowing shown by electroencephalography during typical paroxysmal events, including hemiplegic, tonic, or dystonic episodes was frequent (21 of 42 cases). Distinct convulsive episodes with altered consciousness believed to be epileptic in nature were reported in 41% of patients. Ataxia (96%) and cognitive impairment (100%) were frequent nonepisodic symptoms. Empiric pharmacologic treatment approaches offered little benefit in most subjects and resulted in adverse effects in 20% of patients.
    Read the PubMed abstract

    To read more about "Alternating hemiplegia of childhood"

    Pediatrics ; e534-e541 ; March 2009
    Microdeletion/duplication at 15q13.2q13.3: autism and other neuropsychiatric disorders frequently present
    Segmental duplications at breakpoints (BP4-BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with intellectual deficit, epilepsy, and/or electroencephalogram (EEG) abnormalities. The authors describe ten new patients with a spectrum of neuropsychiatric impairments that include autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder, and mood disorder. Cognitive impairment varied from moderate intellectual deficit to normal IQ with learning disability. However, none had epilepsy and two had a normal EEG.
    Read the PubMed abstract

    J Med Genet ; 242-248 ; April 2009
    Hereditary diffuse gastric cancer: germline CDH1 deletions found in families
    Germline CDH1 point or small frameshift mutations can be identified in 30%-50% of hereditary diffuse gastric cancer (HDGC) families. The authors found six (6.5%) previously described CDH1 mutation negative HDGC probands carried genomic deletions. When all mutations and deletions are considered, the overall frequency of CDH1 alterations in HDGC is approximately 46%. CDH1 large deletions occur in 4% of HDGC families.
    Read the PubMed abstract

    To read more about "Familial gastric cancer"

    Hum Mol Genet ; 1545-1555 ; 1 May 2009
    Huntington disease: increased hypothalamic-pituitary-adrenal axis activity
    Huntington disease (HD) is a fatal hereditary neurodegenerative disorder characterised by motor, cognitive, and behavioural disturbances. In this study, the authors found that hypothalamic-pituitary-adrenal (HPA) axis dysfunction hyperactivity is an early feature of HD and may contribute to some signs and symptoms in patients.
    Read the PubMed abstract

    To read more about "Huntington disease"

    J Clin Endocrinol Metab ; 1223-1228 ; April 2009
    Arrhythmogenic right ventricular cardiomyopathy: prevention remains the best strategy
    Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heart-muscle disease that is a cause of sudden death in young people and athletes. Causative mutations in genes encoding desmosomal proteins have been identified and the disease is nowadays regarded as a genetically determined myocardial dystrophy. The authors present the current knowledge of the disease – pathogenesis, diagnostics, and treatment management, which is principally preventive.
    Read the PubMed abstract

    To read more about "Arrhythmogenic right ventricular dysplasia"

    Lancet ; 1289-1300 ; 11 April 2009

    Retinitis pigmentosa: functional cone rescue by RdCVF protein in a dominant model
    In retinitis pigmentosa (RP), a majority of causative mutations affect genes solely expressed in rods; however, cone degeneration inevitably follows rod cell loss. Following transplantation and in vitro studies, the authors demonstrate the role of photoreceptor cell paracrine interactions and identified a Rod-derived Cone Viability Factor (RdCVF), which increases cone survival. In an autosomal dominant rat model of the disease, RdCVF protein injections induced an increase in cone cell number and, more important, a further increase in the corresponding electroretinogram (ERG). These results indicate that RdCVF can not only rescue cones but also preserve significantly their function.
    Read the PubMed abstract

    To read more about "Retinitis pigmentosa"

    Mol Ther ; 787-795 ; May 2009
    Metachromatic leukodystrophy: enzyme replacement improves ataxic gait and CNS histopathology in a mouse model
    To assess the efficacy of long-term enzyme replacement therapy (ERT) in metachromatic leukodystrophy (MLD), a lysosomal storage disease with prevailing nervous system disease, the authors treated immunotolerant arylsulfatase A (ASA) knockout mice with 52 doses of either 4 or 50 mg/kg recombinant human ASA (rhASA). ERT was tolerated without side effects and improved disease manifestations in a dose-dependent manner. Dosing of 4 mg/kg diminished sulfatide storage in kidney and peripheral nervous system, but not the CNS, while treatment with 50 mg/kg was also effective in the CNS in reducing storage in brain and spinal cord by 34% and 45%, respectively.
    Read the PubMed abstract

    To read more about "Metachromatic leukodystrophy"

    Mol Ther ; 600-606 ; April 2009

    22q13 deletion syndrome: intranasal insulin improves developmental delay in children
    The 22q13 deletion syndrome (Phelan-McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features. Intranasal insulin has been shown to improve declarative memory in healthy adult subjects and in patients with Alzheimer disease. To assess if intranasal insulin is also able to improve the developmental delay in children with 22q13 deletion syndrome the authors performed exploratory clinical trials in six children with 22q13 deletion syndrome who received intranasal insulin over a period of 1 year. The children showed marked short-term improvements in gross and fine motor activities, cognitive functions and educational level.
    Read the PubMed abstract

    To read more about "Monosomy 22q13"

    J Med Genet ; 217-222 ; April 2009
    Fragile X syndrome: a pilot open label, single dose trial in adults confirms safety of fenobam
    A pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and females with fragile X syndrome (FXS). Clinically significant adverse effects were not identified across the range of dosages utilised. The positive effects seen in animal models of FXS treated with fenobam or other mGluR5 antagonists, the apparent lack of clinically significant adverse effects, and the potential beneficial clinical effects seen in this pilot trial support further study of the compound in adults with FXS.
    Read the PubMed abstract

    To read more about "Fragile X syndrome"

    J Med Genet ; 266-271 ; April 2009
    Catecholaminergic polymorphic ventricular tachycardia: flecainide prevents the disease in mice and humans
    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited arrhythmia syndrome in which drug therapy is often ineffective. The authors discovered that flecainide prevents arrhythmias in a mouse model of CPVT by inhibiting cardiac ryanodine receptor-mediated Ca(2+) release and thereby directly targeting the underlying molecular defect. Flecainide completely prevented CPVT in two human subjects who had remained highly symptomatic on conventional drug therapy, indicating that this currently available drug is a promising mechanism-based therapy for CPVT.
    Read the PubMed abstract

    To read more about "Catecholaminergic polymorphic ventricular tachycardia"

    Nat Med ; 380-383 ; April 2009
    Prader-Willi syndrome: investigation of growth hormone treatment on paediatric patients with scoliosis
    The prevalence of scoliosis in children with Prader-Willi syndrome (PWS) is 30%-80%, depending on age. Although reports about effects of GH treatment on scoliosis in children with PWS are limited, scoliosis is generally considered a contraindication for GH treatment. The authors studied the effects of GH treatment on the onset of scoliosis and curve progression in children with PWS via a multicenter, randomised, controlled GH study in infants and prepubertal and pubertal children. They found that GH-treated children had similar onset of scoliosis and curve progression as randomised controls. The authors conclude that scoliosis should no longer be considered a contraindication for GH treatment in children with PWS.
    Read the PubMed abstract

    To read more about "Prader-Willi syndrome"

    J Clin Endocrinol Metab ; 1274-1280 ; April 2009
    Lipoid congenital adrenal hyperplasia: first cases of pregnancy and child delivery in a patient
    In lipoid congenital adrenal hyperplasia (LCAH) disorder an impairment of steroid synthesis leads to adrenal and gonadal insufficiencies with a particular female genital phenotype. The authors describe the first cases of pregnancy in a LCAH female patient. Clomiphene stimulation induced the first pregnancy at 25 years of age. Spontaneous abortion occurred after 6 weeks gestation. The second pregnancy (with clomiphene stimulation) was induced at the age of 26. Vaginal delivery of a dichorionic-diamniotic twin pregnancy occurred at 30 weeks gestation (two normal weight male babies). Two years later, again under clomiphene stimulation, the patient underwent another successful singleton pregnancy and delivered a normal weight female baby at 36 weeks. The pregnancies were almost uncomplicated.
    Read the PubMed abstract

    J Clin Endocrinol Metab ; 1333-1337 ; April 2009
    Immune thrombocytopenic purpura: an open-label pilot study of an inhibitor of Syk
    To determine whether inhibition of Syk would be useful in FcgammaR-dependent cytopenias such as immune thrombocytopenic purpura (ITP) or autoimmune hemolytic anemia, sixteen adults with chronic ITP were entered into an open-label, single-arm cohort dose-escalation trial beginning with 75 mg and escalating as high as 175 mg twice daily. Toxicity was primarily GI-related with diarrhea (urgency) and vomiting; 2 patients had transaminitis. Inhibition of Syk was an efficacious means of increasing and maintaining the platelet count in half the patients with chronic refractory ITP.
    Read the PubMed abstract

    To read more about "Immune thrombocytopenic purpura"

    Blood ; 3154-3160 ; 2 April 2009
    Chronic demyelinating neuropathy with IgM monoclonal gammapathy: placebo-controlled trial of rituximab
    The authors report a double-blind, placebo-controlled study of rituximab in patients with anti-MAG demyelinating polyneuropathy (A-MAG-DP). Twenty-six patients were randomised to four weekly infusions of 375 mg/m(2) rituximab or placebo. Rituximab proved to be the first drug that improves some patients with A-MAG-DP in a controlled study. The benefit may be exerted by reducing the putative pathogenic antibodies or by inducing immunoregulatory T cells. The results warrant confirmation with a larger trial.
    Read the PubMed abstract

    To read more about "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"

    Ann Neurol ; 286-293 ; March 2009
    Lynch syndrome: management of extracolonic tumours in patients
    Hereditary nonpolyposis colorectal cancer, or Lynch syndrome, is responsible for 2%-3% of all colorectal cancers. Lynch syndrome is also associated with a high risk of extracolonic cancers, including endometrial, stomach, small bowel, pancreas, biliary tract, ovary, urinary tract, brain, and skin cancer. The authors discuss the risks, surveillance tests, and guidelines for the management of extracolonic tumours associated with Lynch syndrome. For all types of extracolonic cancer, evidence supporting surveillance is scarce. Surveillance is generally recommended for urinary tract and gastric cancer, especially in families with more than one member with these types of cancer. For the other types of cancer, surveillance is typically not recommended. No data show efficacy of chemopreventive drugs in reducing the risk of extracolonic cancers for patients with Lynch syndrome.
    Read the PubMed abstract

    To read more about "Hereditary nonpolyposis colon cancer"

    Lancet Oncol ; 400-408 ; April 2009

    First product for Rett syndrome receives positive opinion at May COMP meeting
    At the May 2009 meeting of the Committee for Orphan Medicinal Products (COMP), a positive opinion on the first product indicated for the treatment of Rett syndrome was issued. In all, five positive opinions were issued during the May meeting for the treatment of:
    - Rett syndrome
    - multiple myeloma
    - neuroblastoma
    - acromegaly
    - amyotrophic lateral sclerosis

    April marked the 100th plenary meeting of the COMP. A bonanza of nine positive opinions marked the occasion, for the treatment of:
    - 5-fluorouracil overdose
    - prevention of the ischemia/reperfusion injury associated with solid organ transplantation
    - corneal graft rejection
    - pancreatic cancer
    - glioma
    - pouchitis
    - pancreatic cancer
    - haemophilia B
    - systemic sclerosis

    The first hundred COMP meetings have generated more than 640 positive opinions adopted from over 900 orphan designation applications reviewed. Applications have an overall success rate of approximately 70% and evaluation is accomplished in around 60 days for some 70% of all applications.

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

    Marketing authorisation recommended for Nymusa for primary apnoea in premature newborns
    At the April 2009 meeting of the European Medicine Agency’s Committee for Medicinal Products for Human Use (CHMP), a positive opinion was adopted recommending marketing authorisation for Nymusa (caffeine citrate), indicated for the treatment of primary apnoea in premature newborns. EMEA review began on 28 May 2008, with an active review time of 204 days. Nymusa, from Chiesi Farmaceutici SpA, is the 54th orphan medicine to receive a positive opinion from the CHMP.

    First rare disease grant programme launches in Switzerland
    For the first time, a grant programme specifically for rare diseases is being launched in Switzerland. Independent foundation Gebert Rüf Stiftung will invest CHF2 million (€1.3 million) per year to researchers based at Swiss universities, university hospitals, federal institutes of technology and universities of applied sciences. The Rare Diseases – New Technologies grant programme is established as a five-year area of activity. The application deadline is 1 September, 2009. Five informational roadshows are being held in early June at the Universities of Lausanne, Geneva, Basel, Bern and Zurich.
    For further details

    USA Office of Orphan Product Development launches grant programme for paediatric devices
    In the USA, the Food and Drug Administration’s Office of Orphan Products Development is soliciting grant applications from domestic non-profit consortia in order to facilitate the development, production, and distribution of paediatric medical devices. Grants will be considered for consortia “whose business model and approach to device development will either result in, or substantially contribute to, market approval of medical devices designed specifically for use in children”. Paediatric medical device development is five to ten years behind the development of devices for adults. The total amount of funding that the agency expects to award through this announcement is $2 million dollars to be distributed on a competitive basis between one to four awards. Application deadline: 15 June, 2009. For further details

    Europe-wide project seeking response to survey on retina patient databases

    Ireland-based research charity Fighting Blindness, on behalf of FP7-funded project EuroVisionNet, is seeking information on Retina patient databases throughout Europe. The results will serve to generate a directory of registries in Europe, making available contact details for each registry. Further information, including results for rare disorders, will be published in a detailed report. Complete the survey

    Rare neuromuscular disease network of excellence TREAT-NMD seeks UK Coordinator
    Treat-NMD seeks a UK Coordinator to manage, develop and coordinate the dissemination and communication of TREAT-NMD activities to the Duchenne Muscular Dystrophy community. The Coordinator will be responsible for facilitating the involvement of UK clinical trial centres in upcoming DMD clinical trials by assisting the principal investigators, identifying funding opportunities and carrying out regulatory document filing and reporting. The Coordinator will also be responsible for enhancing the excellence available in UK trials sites/centres by disseminating the TREAT-NMD standards of care and helping centres implement them, organising training within the framework of TREAT-NMD, where necessary. Application deadline: 29 May 2009.
    For further information


    International Workshop - Genomic Disorders, Disease-Associated Chromosome Rearrangements and Position Effect
    Date: 29-30 May 2009
    Venue: Lisbon, Portugal

    A group of invited European speakers will present data and discuss the latest findings and methodologies in this cutting-edge field.
    For further details

    2th International Congress on Neuronal Ceroid Lipofuscinoses
    1 Date: 3-6 June 2009
    Venue: Hamburg, Germany

    The aim of this meeting is to facilitate and speed up exchange between expert scientists and physicians, but also to confront young researchers with the challenges of the largest group of degenerative brain diseases in young people.
    For further details

    First International Conference on Hyperphagia
    4-5 June 2009
    Venue: Baltimore, MD, USA

    Hyperphagia is the extreme unsatisfied drive to consume food which is a hallmark characteristic of Prader-Will syndrome and several other disorders, including Alstrom syndrome, WAGR syndrome, Fragile X syndrome and Laurence-Moon-Bardet-Biedl syndrome. This conference seeks to explore commonalties among affected rare diseases and open new doors of collaboration.
    For further details

    1st European Congress on Rett Syndrome
    Date: 5-7 June 2009
    Venue: Milan, Italy

    An overview of all aspects - from research to treatment - focusing on new perspectives concerning Rett syndrome.
    For further details

    10th European Symposium: Prevention of Congenital Anomalies
    Date: 10 June 2009
    Venue: Bilbao, Spain

    Organised by EUROCAT and the Basque Government’s Ministry of Health, the symposium will share experience on the prevention of congenital anomalies and exhibit advances in prevention in different contexts. The main topics include environmental risk, prenatal diagnosis, and genetic counselling.
    For further details

    The Fourth Eastern European Conference on Rare Diseases and Orphan Drugs
    Date: 13-14 June 2009
    Venue: Plovdiv, Bulgaria

    “Together for an Integrative Approach to Rare Diseases”. Supported and co-funded by a grant from the European Union in the framework of the Public Health Programme, this conference presents rare diseases as a common issue at the national and European level requiring an integrated approach involving all stakeholders. Deadline for abstract submission: 20 May 2009
    For further details

    Porphyrins and Porphyrias 2009
    Date: 14–18 June 2009
    Venue: Stockholm, Sweden

    The scientific program will cover the latest developments in the field of heme-related disorders. The meeting will include plenary sessions, oral presentations and poster presentations. Contributions will be made from basic scientists, molecular biologists, laboratory and clinical academicians, clinical researchers and physicians working in the field of heme metabolism and heme-related disorders.
    For further details

    EuroGentest symposium
    Date: 18-19 June 2009
    Venue: Leuven, Belgium

    Topics include: accreditation according to ISO 15189, accreditation bodies in Europe and the world, External Quality Assessment schemes, IT solutions to support your quality management system, and experiences from people working in an accredited laboratory or preparing for accreditation.
    For further details

    5th International Congress on Shwachman-Diamond Syndrome
    Date: 19-20 June 2009
    Venue: Amsterdam, Netherlands

    The 5th International Congress on Shwachman- Diamond Syndrome provides a unique opportunity for clinicians, researchers, and patient organisation representatives from around the world to meet.
    For further details

    Balkan Congress for Rare Diseases
    Date: 26-27 June 2009
    Venue: Cluj-Napoca, Romania

    This conference will address issues in diagnosing and managing rare diseases in the region and will explore ways to increase European collaboration.
    For further details

    2nd ELA Research Foundation Congress
    Date: 26-27 June 2009
    Venue: Luxembourg

    “Therapeutic challenge in white matter diseases” is the theme of this congress that will bring together leading international experts in leukodystrophies, myelin biology, neuroimaging, stem cell research and gene therapy to share and discuss recent advances and cutting-edge science in these fields with the ultimate goal to fight and eventually find a cure for the disabling leukodystrophies and myelin diseases.
    For further details

    Treatment Options in Phenylketonuria and Related Pediatric Neurotransmitter Disorders
    Date: 29 August 2009
    Venue: San Diego, California

    Key Topics include challenges in the pharmaceutical treatment of PKU and treatment of paediatric neurotransmitter disorders.
    For further details

    Genetics and Genomics of Vascular Disease Workshop
    Date: 13-16 September 2009
    Venue: Hyannis, MA

    The programme will present cutting edge research in areas like genome wide association studies in human populations, mouse QTL mapping of vascular phenotypes, and pathogenesis of vascular and developmental diseases using human patients and mouse models.
    For further details

    European Working Group on Rett Syndrome – 2009 Meeting
    Date: 17-18 September 2009
    Venue: Stresa, Italy

    An opportunity to discuss Rett syndrome-related science, to find collaborators for grant applications, and to exchange reagents and ideas. Moreover, the close contact with the parents associations should also help to focus better on the scientific problems that need to be resolved to find a cure for patients. Abstract deadline: 15 June 2009.
    For further details

    British Paediatric Neurology Association: Rare Disorders Symposium
    Date: 29 September 2009
    Venue: Harrogate, England

    A stand-alone satellite symposium on rare disorders will take place as part of the 8th Paediatric Neurology Conference. Further information to appear shortly.
    For further details

    Fourth International Conference on Birth Defects and Disabilities in the Developing World
    Date: 4-7 October 2009
    Venue: New Delhi, India

    The theme of the Fourth International Conference is "Translating Research into Cost-effective Services for the Care and Prevention of Birth Defects, Preterm Birth and Consequent Disabilities".
    For further details

    EPPOSI: 10th Workshop on Partnering for Rare Disease Therapy Development
    Date: 26-27 October 2009
    Venue: Brussels, Belgium

    The topic of this year’s workshop of the European Platform for Patients’ Organisations, Science and Industry is “10 years after the adoption of the EU Orphan Medicines Regulation: Where do we go? Three key themes will be addressed: “What is the impact of the economic crisis on the field of rare diseases – and what is the vision on further progress in R&D, diagnosis and patient care? Building on the public policy base of the last 10 years: how to advance policies in the next five years? Rare cancers: specific challenges within rare diseases.
    For further details

    TREAT-NMD/NIH International Conference
    Date: 17-19 Nov 2009
    Venue: Brussels, Belgium

    The aim of the meeting is to share progress in the area of translational medicine in inherited neuromuscular diseases and set the future collaborative agenda. This conference will build on achievements of the NIH and TREAT-NMD. It will be a highly interactive meeting with a strong focus on the key issues surrounding "trial readiness" in the neuromuscular field.
    For further details

    Rare Diseases II: Hearing and Sight Loss
    Date: 22-27 November 2009
    Venue: Sant Feliu de Guixols, Spain

    Details to follow.
    For further details

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

    The programme for this workshop will be available soon.
    For further details


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews Europe is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (Poland), Alexandre Diniz (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP), Jaroslaw Waligora

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