21 September 2012 print
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Czech National Rare Disease Plan 2012-2014 officially adopted!

On 9 June, 2009, the European Council adopted the Recommendation on an Action in the Field of Rare Diseases, calling on each European Union (EU) Member State (MS) to elaborate and adopt a strategy for their rare disease patients by the end of 2013. The Council Recommendation defines seven strategic areas for rare disease care, of which the first - Plans and strategies in the field of rare diseases – urges the MS to develop actions that encompass the elements of the following strategic areas: Adequate definition, codification and inventorying of rare diseases; Research; Centres of expertise and European reference networks; Gathering expertise on rare diseases at European level; Empowerment of patient organisations; and Sustainability.

A ten-year Czech National Strategy for Rare Diseases was approved by the Czech government in 2010 for the country's rare disease patients, estimated to be roughly 20,000 out of 10.5 million habitants. The Czech strategy outlines existing efforts and proposes major targets and measures for improving the situation in the Czech Republic, to be subsequently specified in more detail in the context of a three-year national action plan that establishes sub-tasks, instruments, responsibilities, dates and indicators for fulfilling individual tasks.

On 29 August, the Czech government adopted via Decree 633 the Czech National Plan for Rare Diseases for 2012-2014, which delineates actions identified in the 2010-2020 Czech National Strategy. Specific areas include: Improving information; Education; Prevention; Improving screening and diagnosis; Improving the availability and quality of care; Improving quality of life and social inclusion; Support for rare disease science and research; Unification and development of data collection and rare disease biological samples; Supporting and strengthening patient organisations; Interdepartmental and interdisciplinary collaboration; and International cooperation. Only available in Czech language for the moment, a request has been made to translate the Czech National Plan for Rare Diseases for 2012-2014 and make it available on the website of the European Commission DG Health & Consumers Public Health Rare Diseases section, which includes a section specifically for the EU national plans for rare diseases.

Consult the plan (in Czech language)


Spotlight on...
NoTube online Internet coaching for feeding-tube dependent children offers an example of how cross-border e-health care can reduce patient costs

There are many rare paediatric disorders which, at some point, following organ transplantation or other surgical interventions, require the use of a feeding tube in order to supply adequate nutrition to the patient. While inserting a nasogastric or percutaneous endoscopic gastrostomy tube is technically easy, there exists little guidance on when and how to remove feeding tubes. Long-term complications of tube feeding have been documented, including gastroesophageal reflux, speech delay, and psychosocial issues, yet adequate techniques for weaning children who have become tube-dependent have been lacking. Existing behavioural treatments, using flooding techniques, can wean about 45% of patients, but are not applicable to severely ill children.

In this context, a new e-health start-up spun off from the University Hospital of Graz (Austria) provides Internet-based help for tube-dependent children and their care givers. Using a unique online “Netcoaching” method, the creators of NoTube connect parents and professionals caring for tube-dependent children worldwide with an expert medical team from the University Hospital in Graz. The goal of the team is to teach tube-dependent children how to eat. Thus far, the Netcoaching programme has treated 150 children over a two-year period. The programme reports a 94% success rate and children treated are frequently able to feed without their tube within four weeks.

The NoTube strategy for weaning tube-dependent children was developed by Prof. Dr. Marguerite Dunitz-Scheer and colleague Dr. Peter Scheer at the University Hospital Graz. The method, documented in the scientific literature (learn more) involves a specialised therapeutic intervention individually adapted to the medical history and condition of the individual child. NoTube has two major strands – one for working with parents, and the other for training professionals. The programme is conducted entirely online, eliminating the need for travel abroad, and ultimately reducing overall treatment costs for parents. Insurance coverage has been granted by state and private insurance firms in Europe for the Netcoaching programme, which is available in six languages. NoTube also offers onsite training courses for medical professionals working with children who suffer from tube dependence and related disorders.
Learn more about NoTube


EU Policy News
European Commission adopts three texts promoting access to publicly funded scientific research

Access to scientific data is especially crucial in the field of rare diseases, an area suffering from a lack of knowledge and resources, fragmentation, and duplication of effort. In August 2008, the European Commission launched the Open Access Pilot in the Seventh Framework Programme (FP7) with the aim of providing improved Internet access to EU-funded research results, particularly peer-reviewed articles published in the scientific literature. Under the pilot scheme, articles produced via research funded under FP7 become freely accessible following a specific embargo period. Pushing the momentum to improve access to published scientific research results further, two key documents were adopted by the European Commission on 17 July 2012. The first, a Communication, entitled Towards better access to scientific information: Boosting the benefits of public investments in research delineates actions that the European Commission intends to take “to improve access to scientific information and to boost the benefits of public investment in research”. Policies to be implemented under Horizon 2020, the next Framework Programme for Research and Innovation (2014-2020), are described. The second document, accompanying the Communication, is a Commission Recommendation on access to and preservation of scientific information. This document recommends that EU Member States (MS):

  • Define clear policies for the dissemination of and open access to scientific publications resulting from publicly funded research
  • Ensure that research funding institutions responsible for managing public research funding and academic institutions receiving public funding implement the policies
  • Define clear policies for the dissemination of and open access to research data resulting from publicly funded research
  • Reinforce the preservation of scientific information
  • Further develop e-infrastructures underpinning the system for disseminating scientific information
  • Ensure synergies among national e-infrastructures at European and global level
  • Participate in multi-stakeholder dialogues at national, European and/or international level on how to foster open access to and preservation of scientific information
  • Designate by the end of the year a national point of reference
  • Inform the Commission 18 months from the publication of this Recommendation in the Official Journal of the European Union, and every two years thereafter, of action taken in response to the different elements of this Recommendation, in accordance with formalities to be defined and agreed.

  • Together with the Communication and Recommendation, the Commission also adopted a Communication on A reinforced European Research Area partnership for excellence and growth in which it sets out the key priorities for completing the European Research Area, one of which is the optimal circulation, access to and transfer of scientific knowledge.
    Learn more about Open Access and consult the Commission Communications and Recommendation


    New leadership at the Committee for Orphan Medicinal Products
    The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) elected Professor Bruno Sepodes as Chair, succeeding Professor Kerstin Westermark. Lesley Greene was named Vice Chair, succeeding Birthe Byskov Holm. Prof Sepodes (University of Lisbon) is a member of the Evaluation Board of Medicines of the Portuguese National Authority of Medicines and Health Products and has been a COMP representative since 2008. New Vice Chair Lesley Greene has been a member of the Committee since 2009. As the mother of a patient with a rare metabolic disease, she brings over two decades’ experience as a patient advocate. Kerstin Westermark, who completed the maximum two mandates (6 years) as Chair of the COMP will continue with the Committee as the Swedish representative. Birthe Byskov Holm also continues at the COMP, in the role of Patient Organisation representative, as a volunteer of the European Organisation for Rare Diseases (Eurordis). OrphaNews Europe takes the occasion to welcome the incoming Chair and Vice Chair and to thank the outgoing officers for their exemplary efforts on behalf of the rare disease community.
    Learn more about the COMP

    Consultation launched on inventory of paediatric cardiovascular medicines
    The European Medicines Agency Paediatric Committee (PDCO) is developing an inventory process aiming to identify areas in which further research and development specific to paediatric medicinal products are needed. Such an inventory could assist industry in identifying opportunities, provide a source of information for healthcare professionals and patients, and aid various PDCO assessment processes. The first inventory, in the area of cardiovascular medicines for use in children, has been released for public consultation and is open for comments until 30 October 2012.
    Learn more


    National & International Policy Developments
    Appraisal of medicinal products for very rare conditions moves to England’s National Institute for Health and Clinical Excellence
    Health Ministers in England have announced that from April 2013 the National Institute for Health and Clinical Excellence (NICE) will take on the role of appraising drugs for ultra-rare conditions. Ultra-rare is defined as fewer than 500 patients in England, equating to a prevalence of 1 in 100 000 or fewer. This function is currently carried out by the Advisory Group for National Specialised Services. A Letter published in the BMJ on 24 August evokes the risk of fragmentation of care of rare diseases by moving expensive, ultra-rare disease treatments to NICE.
    New article describes Australia’s progress in creating a national rare disease plan
    Picking up on the momentum created in Europe to establish national strategies addressing the needs of rare disease patients and their caregivers, Australian stakeholders are eyeing ways to develop a plan in their country. To get the ball rolling, a symposium on the topic was held in April of last year. The outcomes of this meeting, which brought together various strands of the rare disease and orphan drug community, have been documented in a paper newly published in the Orphanet Journal of Rare Diseases. Essentially, Australia can build upon existing components in many areas, tailoring them to rare diseases. The authors call for an audit of the country’s current situation in order to identify gaps in knowledge, resources and services.
    Consult the article

    Dutch government debates reimbursement policies for expensive lysosomal storage disease products
    In the Netherlands, a controversy is brewing over a leaked report from the Dutch Health Care Insurance Board (CvZ) addressed to the country’s Minister of Health concerning the reimbursement of two rare disease products deemed “too expensive”. Both products target lysosomal storage disorders: a treatment for Pompe disease with an annual price tag of between €400 000 and €700 000 and a Fabry disease treatment costing some €200 000 per year. According to various news reports, Health Minister Edith Schippers has been advised to cut public funding for the treatments, although babies diagnosed with Pompe disease would continue to have their treatment supported by State funding under the proposal. The news of the proposed funding cut has unleashed protest from stakeholders across the country and beyond. In a news article appearing in the BMJ, experts, including Professor of Inherited Metabolic Diseases at the Academic Medical Centre in Amsterdam, Dr Carla Hollak, called for European-level policies to help determine fair pricing and reimbursement methods for orphan drugs, as well as a Europe-wide mechanism for capturing outcome data, citing national registries as lacking sufficient numbers of patients to yield meaningful results.
    Other European news
    French website now available in English language could serve as a source of inspiration

    The French Muscular Dystrophy Association (AFM), created in 1958, is a dynamic non-profit organisation composed of patients, their families, and other stakeholders affected by neuromuscular and other rare diseases. A leading engine in France for galvanising the rare disease community, one of the crowning achievements of the AFM is its Telethon, an annual national event that raises significant donations - almost €100 million annually - for research while promoting awareness. Now the AFM has developed an English-language version of its website. The new site presents the mission and projects of the association as well as information on rare diseases and resources. The AFM can be seen as a model for other countries seeking ways to raise funds and awareness for rare diseases and the English-language website renders the array of AFM activities more visible.
    Learn more

    New publication maps the rare disease resources available in Madrid
    The Rare Disease Research Institute of Spain’s Instituto de Salud Carlos III has released a study identifying rare disease research and treatment resources located in the Madrid region. This document is the result of collaboration between the Autonomous Community of Madrid, the Spanish rare disease patient association foundation Feder (Fundación FEDER -Federacion Espanola de Enfermadades Raras) and pharmaceutical company Merck, which provided some funds through the FEDER Foundation to develop the study. The Council Recommendation of 2009, which calls on the EU Member States to develop a plan for their rare disease patients, includes the recommendation to identify or create and accredit centres of reference and of expertise. Spain has developed a strategy for rare diseases in the national health system. The new report does not specifically identify reference centres, but it provides the most comprehensive mapping of the rare disease research and care expertise available to date in the Madrid region. Data were gathered from hospital units, research centres, patient organisations and scientific societies. Amongst the findings, the document maps resources for 28 diseases that cause rare tumours, 62 blood diseases, 112 rare endocrinal, nutritional and/or metabolic disorders, 109 rare diseases of the central nervous system, 37 genito-urinary disorders and 168 congenital ailments. The information contained in the document can be useful for both policy makers and patients, for policy making and informational purposes.
    Learn more (in Spanish)

    New funding mechanism in the Netherlands seeks to bridge gap between fundamental research and therapies for rare diseases
    Three promising projects were each awarded a € 3 million grant under the ZonMw Priority Medicines for Rare Diseases and Orphan Drugs (PM Rare) research programme in the Netherlands. The projects involve research that could potentially lead to new therapies for rare diseases and are to be carried out by public-private partnerships. Those selected are: Antisense therapy for several major rare diseases; Gene-corrected stem cells for curative treatment of severe combined immunodeficiency; and Towards treatment of MELAS syndrome: drug development based on newly identified compounds. ZonMw, the Netherlands Organisation for Health Research and Development, funds health research and stimulates use of the knowledge developed to help improve health and healthcare in the Netherlands. ZonMw’s main commissioning organisations are the Ministry of Health, Welfare and Sport and the Netherlands Organisation for Scientific Research. The PM Rare research programme has two objectives: to promote translational research to develop therapies for rare diseases, and to encourage the establishment of national and international networks and participation in international initiatives.
    Learn more

    Other International News
    International haemophilia congress enjoys a record turnout as participants gather to celebrate the fiftieth anniversary of the World Federation of Hemophilia
    The World Federation of Hemophilia, made up of over 120 organisations from around the world, celebrated its fiftieth anniversary with a landmark conference in Paris in July. With over 5400 participants registered, the event showcased the solidarity and strength of the global bleeding disorders community. A dynamic medical programme delivered by experts in the field was complemented by a multidisciplinary agenda addressing related topics such as psychosocial issues, family perspectives and more. Importantly, the theme of access to treatment figured prominently, reminding attendees that 75% of people with coagulopathies around the world do not receive optimal treatment.
    Learn more

    Centers for Mendelian Genomics apply next-generation sequencing and computational approaches to identify the genes and variants underlying Mendelian conditions
    In the United States of America, the National Institutes of Health (NIH) has established three interrelated Centers for Mendelian Genomics. Located at the University of Washington, Yale University and Baylor-Johns Hopkins Center for Mendelian Genomics, the three centres will use the latest approaches to accelerate the identification of the genes responsible for Mendelian conditions. The centres invite the international clinical and scientific community to collaborate by submitting cases of Mendelian phenotypes that have not had a causal gene identified.
    Learn more

    Prenatal and neonatal screening practices increasing in low- and middle-income countries
    An article appearing in the Bulletin of the World Health Organization reports that prenatal and neonatal screening practices are increasing in low- and middle-income countries. In countries where infectious diseases are a leading cause of newborn and infant mortality, screening for congenital diseases has not been viewed as a priority. In 2010 the World Health Assembly approved a resolution on the prevention and care of birth defects. This was followed in 2011 with the publication of the first global report on genetics services in low- and middle-income countries.
    Consult the article

    Guidance Documents and Recommendations
    Society for Inherited Metabolic Disorders issues statement on investigational new medicines for rare diseases
    In an issue of Molecular Genetics and Metabolism, the Society for Inherited Metabolic Disorders (SIMD) issued a statement concerning investigational new medicines for rare diseases, including approved drugs used for non-indicated conditions, investigational new drugs, or unapproved compounds that have variable levels of previous experience in humans. Citing that the “ gold standard for testing new drugs has evolved into a set of highly expensive procedures” and that it is difficult to garner statistically significant evidence from small patient populations, the Society promotes the ethical principle of comparing risks with benefits for any proposed therapy, pointing out that for many rare diseases, “the benefit constitutes the possible avoidance of death, neurological damage or permanent disability” which “raise the threshold for risks deemed acceptable by affected parties”. The Society thus proposes that “… the emphasis for evaluation of new drugs needs to be shifted from unattainable and possibly harmful adherence to current standards to a model of best available evidence plus adequate patient informed consent. The SIMD emphatically believes that expert opinion must be weighed heavily when evaluating applications for the investigational use of drugs to treat patients with rare diseases. A rare disease expert is an internationally recognized authority in the field whose knowledge of the natural history of the disease allows her/him to predict the likely outcome if no therapy is attempted. Experts can also gauge the likelihood that standard preclinical testing, which requires a huge investment not available to rare disease patients, can be practically performed. The SIMD is able and willing to provide rare disease experts for the evaluation of these considerations, which should be balanced against the risks of the proposed intervention, rather than uniformly imposing rigid requirements for assurance of safety”.
    Learn more

    Haemophilia: guidelines from the World Federation of Hemophilia
    Consult the PubMed abstract
    To read more about "Hemophilia"

    Haemophilia ; Epub ahead of print ; 6 July 2012
    International consensus statement on standard of care for congenital myopathies
    Consult the PubMed abstract
    To read more about "Congenital myopathy"

    J Child Neurol ; 363-82 ; March 2012

    New Syndromes

    A new primary immunodeficiency associated with STK4 mutations
    Two publications report on a new primary immunodeficiency clinically characterized by recurrent bacterial and viral infections and autoimmune manifestations. Blood tests and molecular studies respectively reveal lymphopenia and mutations of the STK4 gene encoding the MST1 protein. Given that MST1 deficient lymphocytes poorly express transcription factors of the FOXO family and overexpress apoptotic agents, the underlying mechanism of this immunodeficiency might be an increased cell death of lymphocytes whose maintenance and homing are probably controlled by MST1 via FOXO proteins. However, if these STK4 mutations manifest largely by a loss of naive T cells in both studies, one of them also mentions a significant decrease in B-cell numbers that may be simply related to defective T-cell function or an intrinsic B-cell anomaly. Furthermore, the three patients of one study and one patient of four in the other were found to have cardiac abnormalities.
    Consult the PubMed abstracts

    Blood ; 3450-7; 3458-68 ; 12 April 2012
    A progressive polyepiphyseal dysplasia with arthropathy distinct from the genetic inflammatory/rheumatoid-like osteoarthropathies known to date
    The authors describe two boys from different families with severe chronic arthralgia, motor weakness and progressive joint contractures. Absence of clinical and biological inflammation, severe evolution under anti-inflammatory and immunosuppressive drugs, symmetrical skeletal abnormalities and no destructing lesions rule out idiopathic juvenile arthritis. Similarly, absence of WISP3 mutation and the lack of vertebral abnormalities and typical metaphyseal enlargement of the phalanges eliminate the diagnosis of pseudorheumatoid dysplasia. Given that the authors also think they are not facing a multiple epiphyseal dysplasia, the Stickler syndrome or the camptodactyly-arthropathy-coxa vara-pericarditis syndrome, they suggest that these patients suffer from a disease distinct from the genetic inflammatory/rheumatoid-like osteoarthropathies known to date. They don’t exclude the hypothesis that the two boys do not share the same unique entity.
    Consult the PubMed abstract

    Am J Med Genet A ; 1754-8 ; July 2012
    Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin causing visceral amyloid deposits
    The authors report on four members of a family with autosomal dominant hereditary β2-microglobulin amyloidosis characterized by altered bowel habits, with an onset in middle age, caused by both direct gastrointestinal amyloid deposition and autonomic neuropathy, accompanied by a sicca syndrome. After a very slow clinical course, the disease culminates in extensive, widespread visceral amyloid deposition. All four patients carry an heterozygous mutation in the B2M gene resulting in a Asp76Asn variant β2-microglobulin remarkably fibrillogenic in vitro under physiological conditions, and that is the sole component of the amyloid deposits. Unlike patients with dialysis-related amyloidosis caused by sustained high plasma concentrations of wild-type β2-microglobulin, they have normal renal function, normal circulating β2-microglobulin values and no osteoarticular amyloid deposits.
    Consult the PubMed abstract

    N Engl J Med ; 2276-83 ; 14 June 2012
    A 5q31.3 microdeletion syndrome characterized by hypotonia, feeding difficulties, respiratory distress, developmental delay and distinctive facial features
    An article dated June 2012 describes three unrelated patients presenting with severe hypotonia, early feeding difficulties, respiratory distress, severe developmental delay, and characteristic facial features, i.e. narrow forehead, metopic prominence, lateral sparseness of the eyebrows, hypertelorism, depressed nasal bridge, open and tented mouth, marked philtrum and micrognathia. Each of these patients has a microdeletion at 5q31.3. These microdeletions overlap each other and with the deleted regions identified in two patients mentioned in a publication dated March 2011 and exhibiting the same clinical features. However the myelination delay noted in these two patients is less evident in the three cases reported in June 2012. These data argue in favor of a clinically recognizable syndrome linked with microdeletions at 5q31.3, within a critical region encompassing clustered PCDHs, NRG2 and PURA genes, all good candidates for the phenotype observed here.
    Consult the PubMed abstracts

    Am J Med Genet A ; 732-6 ; April 2011
    Am J Med Genet A ; 1891-6 ; Aug 2012
    Facial palsy, hearing loss, and dysmorphic features due to a human HOXB1 mutation inducing the Hoxb1-/- mice phenotype
    Seeking mutations responsible for Moebius syndrome and congenital facial paralysis in families with members diagnosed with these and related disorders, the authors have identified a founder missense mutation in HOXB1 in four individuals of two families. The resulting phenotype observed in these four cases includes congenital bilateral facial palsy, sensorineural hearing loss, dysmorphic features such as midface retrusion, upturned nasal tip, low-set and posteriorly rotated ears, smooth philtrum, and probably strabismus. This phenotype recapitulates the clinical features of the Hoxb1-/- mice, further supporting the loss of HOXB1 function suggested by the experiments performed in this study.
    Consult the PubMed abstract

    Am J Hum Genet ; 171-9 ; 13 July 2012

    New Genes

    PIK3CA mutational spectrum at cause in several diseases with various tissues overgrowth
    Consult the PubMed abstracts
    To read more about "CLOVE syndrome"
    To read more about "Macrocephaly - capillary malformation"
    To read more about "Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus"
    To read more about "Hemimegalencephaly"

    Am J Hum Genet ; 1108-15 ; 8 June 2012
    Nat Genet ; 928-33; 934-40; 941-5 ; Aug 2012
    Cantu syndrome: dominant missense mutations in or near the transmembrane domains of ABCC9 result in a KATP channel opening
    Consult the PubMed abstract
    To read more about "Cantu syndrome"

    Nat Genet ; 793-6 ; July 2012
    IMAGe syndrome: mutations in the PCNA-binding domain of CDKN1C inhibit growth through loss of interaction between these two genes
    Consult the PubMed abstract
    To read more about "IMAGe syndrome"

    Nat Genet ; 788-92 ; July 2012
    Familial glucocorticoid deficiency: knockdown of NNT highlights its primary importance for ROS detoxification in adrenocortical cells
    Consult the PubMed abstract
    To read more about "Familial glucocorticoid deficiency"

    Nat Genet ; 740-2. ; July 2012
    Nevus sebaceus syndrome due to postzygotic HRAS and KRAS mosaic mutations
    Consult the PubMed abstract
    To read more about "Linear nevus sebaceus syndrome"

    Nat Genet ; 783-7 ; July 2012
    3-methylglutaconic aciduria type 4: SERAC1 mutations impair mitochondrial function and intracellular cholesterol trafficking
    Consult the PubMed abstract
    To read more about "3-methylglutaconic aciduria type 4"

    Nat Genet ; 797-802 ; July 2012
    GATA1 mutations impair erythropoiesis and expand the genetic basis of Blackfan-Diamond disease
    Consult the PubMed abstract
    To read more about "Blackfan-Diamond disease"

    J Clin Invest ; 2439-43 ; July 2012
    Rare hereditary thrombophilia: a prothrombin mutation induces thrombosis through antithrombin resistance
    Consult the PubMed abstract
    To read more about "Rare hereditary thrombophilia"

    N Engl J Med ; 2390-6 ; 21 June 2012
    Mutations in MBD5, MLL3, SMARCB1, and NR113, all epigenetic regulators interacting directly or not with EHMT1, involved in the Kleefstra syndrome spectrum
    Consult the PubMed abstract
    To read more about "Kleefstra syndrome"

    Am J Hum Genet ; 73-82 ; 13 July 2012
    Spinal muscular atrophy associated with progressive myoclonic epilepsy: ASAH1 mutations inducing moderate reduction of acid-ceramidase activity at cause
    Consult the PubMed abstract
    To read more about "Hereditary myoclonus - progressive distal muscular atrophy"

    Am J Hum Genet ; 5-14 ; 13 July 2012
    Pityriasis rubra pilaris : the familial form associated with mutations in CARD14, a regulator of NF-κB also mutated in familial psoriasis
    Consult the PubMed abstract
    To read more about "Pityriasis rubra pilaris"

    Am J Hum Genet ; 163-70 ; 13 July 2012
    Congenital myasthenic syndromes: DPAGT1 mutations disrupt glycosylation and export of acetylcholine-receptors and cause a limb-girdle type
    Consult the PubMed abstract
    To read more about "Congenital myasthenic syndromes"

    Am J Hum Genet ; 193-201 ; 13 July 2012
    Infantile neuronal ceroid lipofuscinosis associated with a mutation in KCTD7 that might alter protein-degradation systems
    Consult the PubMed abstract
    To read more about "Infantile neuronal ceroid lipofuscinosis"

    Am J Hum Genet ; 202-8 ; 13 July 2012
    PIGO mutations strengthen the role of GPI-anchor in hyperphosphatasia intellectual deficiency syndrome
    Consult the PubMed abstract
    To read more about "Hyperphosphatasia intellectual deficiency syndrome"

    Am J Hum Genet ; 146-51 ; 13 July 2012
    Distal hereditary motor neuropathy type 5: a mutation found in REEP1 broadens the spectrum of motor neuron diseases linked to defects in this gene
    Consult the PubMed abstract
    To read more about "Distal hereditary motor neuropathy type 5"

    Am J Hum Genet ; 139-45 ; 13 July 2012
    CDG syndrome: TMEM165 mutations causes Golgi glycosylation defects
    Consult the PubMed abstract
    To read more about "CDG syndrome"

    Am J Hum Genet ; 15-26 ; 13 July 2012
    Juvenile idiopathic arthritis: identification of novel susceptibility loci conferring also rheumatoid arthritis risk
    Consult the PubMed abstract
    To read more about "Juvenile idiopathic arthritis"

    Ann Rheum Dis ; 1117-21 ; July 2012
    Familial isolated hypertrophic cardiomyopathy: FHL1 mutations suggest a mechanism of toxic mutants accumulation due to proteasome impairment
    Consult the PubMed abstract
    To read more about "Familial isolated hypertrophic cardiomyopathy"

    Hum Mol Genet ; 3237-54 ; 15 July 2012
    Mutations in ST18, involved in apoptosis, predispose to Pemphigus vulgaris in a population-specific manner
    Consult the PubMed abstract
    To read more about "Pemphigus vulgaris"

    J Invest Dermatol ; 1798-805 ; July 2012
    EXOC8 gene associated with Joubert syndrome and GFM2 with Wolcott-Rallison syndrome
    Consult the PubMed abstract
    To read more about "Joubert syndrome"
    To read more about "Wolcott-Rallison syndrome"

    Sci Transl Med ; 138ra78 ; 13 June 2012
    A de novo homoplasmic mitochondrial tRNA mutation involved in a fatal neonatal lactic acidosis due to severe respiratory chain deficiency
    Consult the PubMed abstract
    Pediatr Res ; 90-4 ; July 2012

    Research in Action

    Clinical study recruits alkaptonuria (AKU) patients to evaluate new medicine
    The developAKUre clinical study is evaluating the safety and efficacy of a new drug, Nitisinone, for patients with alkaptonuria (AKU), a rare genetic condition caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. Clinical trial participants may be from anywhere in Europe (excluding the United Kingdom) and must be aged 18 or over with a diagnosis of AKU and documented increase in urine or plasma HGA. Patients must be able to travel to be seen at the Liverpool Centre for AKU, UK (expenses will be covered). To receive further information, please contact patientrecruitment@akusociety.org and reference ‘developAKUre’.
    Fundamental Research
    WHIM syndrome: proper desensitization of CXCR4 required for lymphocyte development and peripheral compartmentalization in mice
    Consult the PubMed abstract
    To read more about "WHIM syndrome"

    Blood ; 5722-30 ; 14 June 2012
    Acquired thrombotic thrombocytopenic purpura: prophylactic and therapeutic effects of a recombinant human ADAMTS13 in a mouse model
    Consult the PubMed abstract
    To read more about "Acquired thrombotic thrombocytopenic purpura"

    Blood ; 6128-35 ; 21 June 2012
    Charcot-Marie-Tooth disease type 1B: a mouse model with a MPZR98C mutation suggests a link between MpzR98C accumulation in ER and myelination delay
    Consult the PubMed abstract
    To read more about "Charcot-Marie-Tooth disease type 1B"

    Brain ; 2032-47 ; July 2012
    Myophosphorylase deficiency: a new knock-in mouse model replaces the wild-type allele of Pygm with a modified allele carrying the common human mutation, p.R50X
    Consult the PubMed abstract
    To read more about "Myophosphorylase deficiency"

    Brain ; 2048-57 ; July 2012
    Hutchinson-Gilford progeria syndrome: protection of neural cells appears to derive from a specific miR-9 expression reducing prelamin A presence
    Consult the PubMed abstracts
    To read more about "Hutchinson-Gilford progeria syndrome"

    Cell Rep ; 1-9 ; 26 July 2012
    PNAS ; E423-31 ; 14 February 2012
    Huntington disease: overexpression of Rab11, a key actor of endosomal recycling, reverses signs of early synaptic dysfunction
    Consult the PubMed abstract
    To read more about "Huntington disease"

    Hum Mol Genet ; 2912-22 ; 1 July 2012
    Lyme disease: spirochete antigens persist near cartilage after treatment in mouse and could contribute to antibiotic-refractory Lyme arthritis
    Consult the PubMed abstract
    To read more about "Lyme disease"

    J Clin Invest ; 2652-60 ; July 2012
    Acrodermatitis enteropathica, zinc deficiency type: knockout of ZIP4 in mouse disrupts the intestinal stem cell niche and the villus enterocyte integrity
    Consult the PubMed abstract
    To read more about "Acrodermatitis enteropathica, zinc deficiency type"

    PLoS Genet ; e1002766 ; June 2012
    Lysosomal ARSG sulfatase deficiency results in heparan sulfate storage and mucopolysaccharidosis type 3 phenotype in mice
    Consult the PubMed abstract
    To read more about "Mucopolysaccharidosis type 3"

    PNAS ; 10310-5 ; 26 June 2012
    Clinical Research
    Takayasu arteritis: TNF inhibitors induce remission in cases refractory to immunosuppressants but with some relapses and adverse effects
    Consult the PubMed abstract
    To read more about "Takayasu arteritis"

    Arthritis Care Res (Hoboken) ; 1079-83 ; July 2012
    Immune thrombocytopenic purpura: 25% of adults and children maintain their platelet count at least 5 years after rituximab therapy
    Consult the PubMed abstract
    To read more about "Immune thrombocytopenic purpura"

    Blood ; 5989-95 ; 21 June 2012
    Follicular lymphoma: nonmyeoloablative stem cell transplantation following chemotherapy induces complete long-term response after relapse
    Consult the PubMed abstract
    To read more about "Follicular lymphoma"

    Blood ; 6373-8 ; 28 June 2012
    Higher proportion of Upshaw-Schulman syndrome cases with pregnancy-onset thrombotic thrombocytopenic purpura than in adult-onset
    Consult the PubMed abstract
    To read more about "Thrombotic thrombocytopenic purpura"

    Blood ; 5888-97 ; 14 June 2012
    Pixantrone is an efficacious and tolerable single-agent salvage therapy for patients with relapsed or refractory aggressive non-Hodgkin lymphoma
    Consult the PubMed abstract
    To read more about "Non-Hodgkin lymphoma"

    Lancet Oncol ; 696-706 ; July 2012
    Temozolomide alone as good as radiotherapy alone for elderly patients with malignant glioma but MGMT promoter methylation status has to be taken into account
    Consult the PubMed abstract
    Consult this study on Orphanet

    To read more about "Anaplastic astrocytoma"
    To read more about "Glioblastoma"

    Lancet Oncol ; 707-715 ; July 2012
    Arginine supplementation improves cognitive and linguistic capacities in children with X-linked creatine transporter deficiency
    Consult the PubMed abstract
    To read more about "X-linked creatine transporter deficiency"

    Orphanet J Rare Dis ; 43 ; 19 June 2012
    Ciclosporin A is safe and may partially reverse the clinical deterioration in patients with early and/or progressive tropical spastic paraparesis
    Consult the PubMed abstract
    To read more about "Tropical spastic paraparesis"

    PLoS Negl Trop Dis ; e1675 ; June 2012
    Beneficial effect of pioglitazone in mice with amyotrophic lateral sclerosis not observed when combined with riluzole in a study in humans
    Consult the PubMed abstract
    Consult this study on Orphanet

    To read more about "Amyotrophic lateral sclerosis"

    PLoS One ; e37885 ; 2012
    Stem Cells
    Autosomal recessive limb-girdle muscular dystrophy type 2D: genetically corrected IPSC-derived mesangioblasts enhance motor capacity in mice
    Consult the PubMed abstract
    To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2D"

    Sci Transl Med ; 140ra89 ; 27 June 2012
    Gene Therapy
    Duchenne muscular dystrophy: gene transfer of claudin-5 can prevent or improve cardiomyopathy in mouse
    Consult the PubMed abstract
    To read more about "Duchenne muscular dystrophy"

    Mol Ther ; 1378-83 ; July 2012
    Therapeutic Approaches
    Infantile neuronal ceroid lipofuscinosis: a gene therapy combined with bone marrow transplantation increases lifespan and improves motor function in mice
    Consult the PubMed abstract
    To read more about "Infantile neuronal ceroid lipofuscinosis"

    Ann Neurol ; 797-804 ; June 2012
    Fragile X-associated tremor/ataxia syndrome: allopregnanolone can mitigate burst firing patterns in a concentration-dependent and reversible manner in mouse
    Consult the PubMed abstract
    To read more about "Fragile X-associated tremor/ataxia syndrome"

    Hum Mol Genet ; 2923-35 ; 1 July 2012
    Friedreich ataxia: IFNγ increases frataxin expression in DRG neurons, protects them and improves sensorimotor functions in a murine model
    Consult the PubMed abstract
    To read more about "Friedreich ataxia"

    Hum Mol Genet ; 2855-61 ; 1 July 2012
    Tuberous sclerosis: prevention of associated neurodevelopmental abnormalities by perinatal rapamycin treatments
    Consult the PubMed abstract
    To read more about "Tuberous sclerosis"

    Hum Mol Genet ; 3226-36 ; 15 July 2012
    Niemann-Pick disease type C: ryanodine receptor antagonists ameliorate lipid storage in patients fibroblasts
    Consult the PubMed abstract
    To read more about "Niemann-Pick disease type C"

    Hum Mol Genet ; 3205-14 ; 15 July 2012
    Hemophilia B: a short course of immunosuppression results in eradication of anti-human F IX after a therapeutic gene transfer in macaques
    Consult the PubMed abstract
    To read more about "Hemophilia B"

    Mol Ther ; 1410-6 ; July 2012
    Huntington disease: transient huntingtin mRNA silencing provides sustained phenotype reversal in mice and monkeys
    Consult the PubMed abstract
    To read more about "Huntington disease"

    Neuron ; 1031-44 ; 21 June 2012
    Osteogenesis imperfecta type 4: a proteasome inhibitor ameliorates both osteoblast differentiation in vitro and bone properties in mice
    Consult the PubMed abstract
    To read more about "Osteogenesis imperfecta type 4"

    Stem Cells ; 1465-76 ; July 2012
    Duchenne muscular dystrophy: recombinant human MG53, an actor of cell membrane repair, decreases muscle pathology in a murine model
    Consult the PubMed abstract
    To read more about "Duchenne muscular dystrophy"

    Sci Transl Med ; 139ra85 ; 20 June 2012
    Fibrodysplasia ossificans progressive: silencing targeting ALK2 mutants restores normal levels of osteogenic differentiation in stem cells of patients
    Consult the PubMed abstracts
    To read more about "Fibrodysplasia ossificans progressiva"

    Gene Ther ; 781-5; 786-90 ; July 2012
    Diagnostic Approaches

    Screening of immunodeficiency with factor I anomaly should be performed for patients with low C3 fragments levels and recurrent bacterial infections
    Consult the PubMed abstract
    To read more about "Immunodeficiency with factor I anomaly"

    Orphanet J Rare Dis ; 42 ; June 2012
    A cost-effectiveness analysis in favor of implementation of newborn screening of medium chain acyl-CoA dehydrogenase deficiency in France
    Consult the PubMed abstract
    To read more about "Medium chain acyl-CoA dehydrogenase deficiency"

    BMC Pediatr ; 60 ; 8 June 2012
    Pulse oximetry screening for congenital heart malformations in asymptomatic newborns
    Consult the PubMed abstract
    Lancet ; 2459-64 ; 30 June 2012

    Patient Management and Therapy

    Cushing disease: a review summarizing potential pathophysiological mechanisms, diagnostic approaches, and therapies
    Consult the PubMed abstract
    To read more about "Cushing disease"

    Orphanet J Rare Dis ; 41 ; 18 June 2012
    Four standardized consensus treatment plans intended to optimize effectiveness of systemic-onset juvenile idiopathic arthritis management
    Consult the PubMed abstract
    To read more about "Systemic-onset juvenile idiopathic arthritis"

    Arthritis Care Res (Hoboken) ; 1001-1010 ; July 2012
    Autosomal dominant optic atrophy: a review on clinical aspects, genetics, diagnosis and prognosis
    Consult the PubMed abstract
    To read more about "Autosomal dominant optic atrophy"

    Orphanet J Rare Dis ; 46 ; 9 July 2012
    X-linked adrenoleukodystrophy: a review on phenotypes, diagnosis, and management
    Consult the PubMed abstract
    To read more about "X-linked adrenoleukodystrophy"

    Orphanet J Rare Dis ; 51 ; 13 August 2012
    Primary amyloidosis: a review on clinical description, diagnosis, and management
    Consult the PubMed abstract
    To read more about "Primary amyloidosis"

    Orphanet J Rare Dis ; 54 ; 21 August 2012
    Guillain-Barre syndrome: a review
    Consult the article via PubMed
    To read more about "Guillain-Barré syndrome"

    N Engl J Med ; 2294-304 ; 14 June 2012
    Cholera: from causative agent to prevention
    Consult the PubMed abstract
    To read more about "Cholera"

    Lancet ; 2466-76 ; 30 June 2012
    Babesiosis: an emerging health risk in several parts of the world
    Consult the article via PubMed
    To read more about "Babesiosis"

    N Engl J Med ; 2397-407 ; 21 June 2012
    Three new Clinical Utility Gene Cards available
    EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published three new Clinical Utility Gene Cards for:
    Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)
    Familial Hypobetalipoproteinaemia (APOB)


    Orphan Drugs
    Regulatory News
    14 positive opinions recommending orphan designation in July and 12 more in September from the COMP

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

    - traumatic spinal cord injury
    - acute lung injury
    - fragile X syndrome
    - ovarian cancer (two products)
    - cystic fibrosis
    - of peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated)
    - haemophilia A
    - pancreatic cancer
    - chronic lymphocytic leukaemia
    - lecithin cholesterol acyltransferase deficiency
    - acute myeloid leukaemia

    At the July 2012 meeting, the COMP adopted fourteen positive opinions recommending orphan designation for the treatment of:

    - Alagille syndrome
    - primary biliary cirrhosis
    - prevention of cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
    - glioma
    - sickle cell disease
    - Fabry disease
    - peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated)
    - inclusion body myositis
    - multiple myeloma
    - Cushing syndrome
    - cutaneous T-cell lymphoma
    - familial chylomicronaemia
    - haemophilia A
    - haemophilia B

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

    Political and Scientific News
    America takes the gold when it comes to review times for novel therapeutics
    A free-access article in the New England Journal of Medicine compares the review times for novel therapeutics between three different regulatory agencies: the USA’s Food and Drug Administration (FDA), the European Medicines Agency (EMA), and Health Canada. Novel therapeutics are of critical interest to rare disease stakeholders, as a majority of these conditions lack a specific treatment and innovative medicines offer potential hope for a variety of rare disorders. The review finds that for the period studied (2001-2010) the FDA reviewed novel therapeutic applications faster (taking 15% less time than Europe and Canada) and that “the vast majority of these new therapeutic agents were first approved for use in the United States”. Indeed, of 289 unique novel therapeutic agents, 190 were approved in both the United States and Europe (either by the EMA or through the mutual recognition process) of which 121 (63.7%) were first approved in the United States, with the drugs available a median of 96 days earlier in the United States. The study does not take into account unapproved novel products or “attempt to compare the quality of regulatory decisions among the agencies with respect to safety or effectiveness”.
    Consult the article


    The European Clinical Research Infrastructures Network (ECRIN) issues call supporting multinational extension of rare disease clinical trials

    The European Clinical Research Infrastructures Network (ECRIN) is a European network dedicated to improving the health of patients and citizens across the world through clinical research. The Work Package 4 of the ECRIN Integrated Activity (2012-2015), funded by the Seventh Framework Programme, is dedicated to structuring a European rare diseases clinical research network. Now, ECRIN is issuing a call for proposals aimed at facilitating the conduction of multinational trials. Eligible projects include Investigator-initiated, multinational, randomised clinical trials with secured public or charity funding for conduction of the trial in the sponsor’s country and targeting rare diseases, medical devices, or nutrition.
    The deadline for submitting a preliminary proposal is 15 December 2012.
    Learn more


    Courses & Educational Initiatives

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

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

    Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
    The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2013 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination.
    For further details

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

    Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
    Date: 26-27 September 2012
    Venue: London, UK

    The aim of this conference is to discuss paediatric drug development in Europe, offering open discussion between academics, clinicians, regulatory authorities, patient associations and the pharmaceutical industry.
    For further details

    15th Biennial Meeting of the European Society for Immunodeficiencies
    Date: 3-6 October 2012
    Venue: Florence, Italy

    The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects. The XIIth Biennial Meeting of the International Patient Organisation for Primary Immunodeficiencies (IPOPI) is also being held in partnership with the European Society for Immune Deficiency (ESID), and the International Nurses Group for Immune Deficiency (INGID).
    For further details

    Mechanisms of Intellectual Disability: From Genes to Treatment
    Date: 3-7 October 2012
    Venue: Roscoff, France

    The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID ; and Towards a cure: lessons from animal models.
    For further details

    EpiRare International Workshop: Rare Disease and Orphan Drug Registries
    Date: 8-9 October 2012
    Venue: Rome, Italy

    The International Workshop “Rare Diseases and Orphan Drug Registries” is organised in the framework of the EpiRare project (“European Platform for Rare Disease Registries”, co-funded by EU Commission, DG SANCO). Open to scientists, clinicians, patient associations, policy makers and enterprises, the workshop aims to share different experiences of rare disease registration in Europe and beyond; highlight the strengths and opportunities of linking rare disease registration activities, orphan drug post-marketing surveillance, etc; promote the sustainability and networking of registration activities; and more.
    For further details

    Second International Conference on Esophageal Atresia: From the Fetus to the Adult
    Date: 8-9 October 2012
    Venue: Montreal, Canada

    In addition to bringing together experts from various disciplines, the theme of the conference will create important links between paediatric and adult medicine, reflecting the need for a continuum of care, which this increasingly numerous population requires. Inherent morbidity related to this condition also underlines the need for long-term monitoring.
    For further details

    Orphan Drugs & Rare Diseases Conference
    Date: 8-9 October 2012
    Venue: London, UK

    This commercial event will present briefings from opinion leaders, including those with hands-on experience of regulating new drug discoveries, companies who have already developed advanced orphan drugs and been granted orphan designation, and selected experts in the field. Speakers will offer insights into expanding the reach of medicine to previously untreatable and unreachable patients with rare diseases; different regulatory and policy environments; new drug discoveries; innovative business strategies and funding models, and the importance of partnerships with patient groups and those at the point-of-care.
    For further details

    Days of Molecular Medicine 2012 Conference: The Translational Science of Rare Diseases - From Rare to Care
    Date: 8-10 October 2012
    Venue: Vienna, Austria

    The conference brings together experts working on a broad spectrum of rare diseases to discuss new insights made possible by improved technologies such as next generation sequencing and the possibilities for translating these advances into new treatment approaches and therapies for patients.
    For further details

    15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
    Date: 11-13 October 2012
    Venue: Leuven, Belgium

    The theme of this year's conference is "Social Phenotypes in Genetic Disorders" and the focus will be on the development, phenotype, genetics and brain basis of social cognitive skills, and on molecular targeted therapy in genetic syndromes.
    For further details

    FDA/EMA Orphan Product Designation and Grant Workshop
    Date: 12 October 2012
    Venue: Silver Spring, MD USA

    The FDA Office of Orphan Products Development along with the European Medicines Agency (EMA) Orphan Medicines Section are holding this one-day workshop designed to provide valuable information about the EMA and FDA Orphan Drug Designation programs, the FDA Humanitarian Use Device (HUD) Designation program, the FDA Orphan Products Grant program, and European Union (EU) rare disease research programs to participants representing pharmaceutical, biotechnology, and device companies, as well as to academics. The workshop is being held in partnership with the European Organisation for Rare Diseases (EURORDIS), Genetic Alliance and the National Organization for Rare Disorders (NORD). There will be no registration fee for the workshop.
    For further details

    2nd Annual U.S. Conference on Rare Diseases and Orphan Products
    Date: October 22-24 2012
    Venue: Washington DC, USA

    Of interest to: researchers from academia and drug and device companies; patient organizations and those interested in creating one; senior managers from drug and device companies interested in rare diseases; investors focused on the future of orphan product development ; policy experts who are concerned about federal or state policies that affect patients with rare diseases; providers of services to the rare disease community, including insurance providers and healthcare professionals; government officials responsible for rare disease research and orphan product oversight.
    For further details

    3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
    Date: 24–26 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

    The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
    Date: 26–27 October 2012
    Venue: Ede, Netherlands

    Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
    For further details

    41st European Society of Clinical Pharmacy Symposium: Personalised and Safe Therapy
    Date: 29-31 October 2012
    Venue: Barcelona, Spain

    Featuring a session on Cross-border Healthcare and Rare Diseases. Other topics include Orphan drugs and ultra orphan drugs; European perspective of the clinical trials; Modeling and simulation in the development of new drugs by the pharmaceutical industry; Pharmacogenetics and pharmacists; Advances in personalized therapy in oncology; Approach to the polymedicated patient; Cost containment measures in hospital pharmacy services: the role of the hospital pharmacy services in the rational use of drugs, and more.
    For further details

    International Ataxia Research Conference
    Date: 1-3 November 2012
    Venue: London, UK

    Topics will include emerging therapeutic strategies for the ataxias; genetic and molecular analysis of the frataxin gene and protein; episodic ataxias and non-inherited ataxias; ataxia clinical research from trials to clinic – biomarkers and clinical trials; and more.
    For further details

    8th International Society for Newborn Screening European Regional Meeting
    Date: 4-6 November 2012
    Venue: Budapest, Hungary

    Topics will include: To screen or not to screen - setting up screening panels; Congenital adrenal hyperplasia; Cystic fibrosis; Severe combined immune deficiencies; Lysosomal storage disorders; and more. .
    For further details

    6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
    Date: 7-9 November 2012
    Venue: Prague, Czech Republic

    Topics will include Refractory Cytopenia of Childhood, advanced MDS; Juvenile Myelomonocytic Leukemia; Ph-negative Myeloproliferative Disorders; Therapy-related myeloid neoplasia; Severe Aplastic Anemia; Congenital Bone Marrow Failure; Morphology and Classification; Stem cell biology; Molecular aberrations and potential targets; Novel therapeutics, and Hematopoietic Stem Cell Transplantation.
    For further details

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

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

    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

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

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

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

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

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

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

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

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

    First International Primary Immunodeficiencies Congress (IPIC)
    Date: 7-8 November 2013
    Venue: Estoril, Portugal
    The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
    For further details


    Media, Press & Publications

    A new book provides a comprehensive overview of the paraneoplastic syndromes
    Paraneoplastic Syndromes is a recent text providing an overview for this group of disorders, including classification, clinical approaches to their diagnosis and treatment, and identification of pathogenesis. Chapters are dedicated to each of the neurologic syndromes along with a chapter discussing nonneurologic syndromes such as endocrine, cutaneous, and rheumatologic paraneoplastic disorders. Autoantibodies that characterise individual paraneoplastic syndromes are discussed. The final section of the book discusses the paraneoplastic syndromes associated with individual cancers.
    Title: Paraneoplastic Syndromes
    Authors: RB Darnell and J. Posner, -Eds.
    Publisher: Oxford University Press, 2011
    ISBN: 9780199772735


    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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