30 September 2009 print
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Editorial
 
Orphanet forms a publishing partnership with Thieme Medical Publishers to offer more quality review articles on rare diseases
 

The Orphanet encyclopaedia of rare diseases has further enriched the information it provides by forming an exciting new collaboration with the international scientific and medical publisher Thieme. This valuable collaboration allows Orphanet to offer direct and free access to key articles featuring authoritative information on rare diseases that are published as part of Thieme’s high quality series including Seminars in Liver Disease, Seminars in Neurology, Seminars in Respiratory and Critical Care Medicine and The Thoracic and Cardiovascular Surgeon. Articles thus far available include Inborn Errors of Bile Acid Metabolism; Neonatal Hemochromatosis: A Congenital Alloimmune Hepatitis; Budd-Chiari Syndrome; Acute Disseminated Encephalomyelitis: Current Understanding and Controversies; An Approach to the Diagnosis of Acute Transverse Myelitis; Dominantly Inherited Ataxias: Lessons Learned from Machado-Joseph Disease/Spinocerebellar Ataxia Type 3; Guillain-Barré Syndrome; Wilson Disease; Pulmonary Aspergillosis; Clinical Features, Diagnosis, and Management of the Antiphospholipid Syndrome; and MYH9-Related Platelet Disorders. Thieme is the second publishing house, after Lancet Neurology, to take up the opportunity of better serving the rare disease community by increasing the visibility of its articles through a direct link in the Orphanet encyclopaedia. Orphanet also collaborates with the European Journal of Human Genetics (Nature Publishing Group) to co-produce the journal’s free-access Practical Genetics series. Orphanet is hoping that other publishing houses will follow this exciting lead that makes scarce and difficult-to-find information on rare diseases readily accessible.
 


 
Spotlight on...
 
The Norwegian Way…to managing rare disorders
 
According to an article published earlier this year by the SINTEF Group, the largest independent research organisation in Scandinavia, there exist some 30,000 people in Norway with rare hereditary or congenital disorders. With a total population of around five million in Norway, a rare disease is defined as affecting less than one person in ten thousand, which means that to be considered rare, a disorder will affect less than 500 of the country’s population.

Norway’s specialised healthcare is divided into four regions. There are 16 different state-financed resource centres established for the country’s rare disease patients. In order for a service to be established for a disorder at one of the resource centres, the condition must meet the criteria of being “congenital and complex/compound and there must be a need for multidisciplinary and cross-institutional services”. To date, services have been established for over 300 diseases, resulting in (in 2006) about 16,000 registered users at the resource centres. The Norwegian Directorate of Health, Helsedirektoratet, the country’s competent authority, responsible for technical functions as well as certain administrative roles, coordinates and monitors the services for rare disease patients in Norway. The centres contribute to the process of enabling patients to access the same work, educational and social opportunities as all Norwegians. The centres take up the needs for various forms of support unmet by standard services available. The centres also facilitate the development and dissemination of expertise. Monies for the centres are established via the state budget.


Helsedirektoratet maintains a free help-line for rare conditions available to patients, family members and professionals. Since the establishment of this service in 1999, enquiries have been received concerning over 700 rare disorders. Their website offers publications available to the public that directly and/or indirectly address rare disorders. One such publication, entitled Children and young people with disabilities – what are the family’s rights? discusses health care, education, housing, and service resources for persons with disabilities. Specific resources for rare diseases are outlined. Caregivers, for example, of patients with rare disabilities are permitted a training allowance in Norway. These are designated for parents to attend courses at a resource centre for rare disabilities, and include travel expenses. Furthermore, for families of children with rare diseases, support may be available to cover the cost of taking part in courses abroad, conditional on there being no resource centre or expert group for the rare disease in Norway. Another document available on the Helsedirektoratet website entitled Having children when the parents are blood relatives specifically discusses the risk for rare inherited disorders in consanguineous marriage. The Directorate of Health also contributes to international efforts. Collaboration with Rarelink, a Nordic website that offers a compilation of electronic links furnishing rare disease information and contact details compiled by organisations commissioned by the governments of Norway, Sweden, Denmark and Finland, is an example of cooperation at the international level.

At present, neonatal screening is routinely performed for PKU and congenital hypothyroidism. A working group established by the Directorate of Health in 2008 has recommended expanding the existing screening programme to include 23 disorders. Genetic counselling is offered free of charge as part of the public health services.

The Norwegian Medicines Agency (NOMA) determines which medicines can be reimbursed by the government from a predefined list. There are several criteria to be fulfilled before NOMA is allowed to add a medicine to the list. If a medicinal product does not have Norwegian Marketing Authorization, it cannot be placed on this predefined list. In such situations, the physician must apply for individually-based reimbursement. Officially, of the 58 orphan products that have received marketing authorisation from the European Medicines Agency, only one is systematically reimbursed in Norway. Inovelon, indicated for Lennox-Gastaut, a rare and severe form of epilepsy, has received approval for full reimbursement in Norway. For all other orphan drug usage, the treating physician must go through the process of applying for individual reimbursement for the use of a specific medicine for a particular patient. In the case of patients who are hospitalised with rare disorders, the hospital itself is financially responsible for the administration of medicines. In certain cases, home treatment is considered to be a prolongation of a hospital treatment, and the hospital will continue to assume the financial responsibility after a patient is released from hospital. Thus, rare disease medicines can be reimbursed via the official, public reimbursement system, either by meeting the criteria of the predefined list of medicines, by the individual application for a specific patient, or through hospital funding.

The funding of assistive devices has two sources. Short term allotment (less than 2 years) is financed by the municipalities, whereas long term allotment (more than 2 years) is financed by the state (through the assistive devices agency in each county). The allotment of assistive devices is governed by an agreement between the state and the municipalities.

The government contributes financially to many patients organisations. There must be 250 members in an organisation to qualify for government funding. Organisations with less than 250 members must merge with others in order to attain the sufficient number.

In 2008, the regional health authorities undertook a revision of the current cross-regional, national, and over-national resource functions (including the resource centres for rare disorders). The aim of this process is to identify from a five year perspective which centres of excellence/ resource centres are needed and where within the specialist health services they should be placed. The work will be finished in 2010, and will result in expanded services for several rare disorders.

As a user of long-term, coordinated health and/or social services, patients are entitled to an Individual Plan. Particularly relevant to rare diseases patients, and not conditional on any specific diagnosis or age, this plan will contain an outline of objectives, resources and the services the patient requires.

Despite the various mechanisms in place in Norway for rare disease patients, the SINTEF study reveals that, as is the case for every country in the world today, more specialist knowledge is needed, along with an “integrated approach” to health care. Stein Are Aksnes, country coordinator for Orphanet Norway and senior adviser for the Norwegian Directorate of Health, Department for Rehabilitation and Rare Disorders, commented that "Our system, with the national resource centres, has its definite advantages, and we try to expand this to as many users as possible. Still, we must not forget that the resource centres do not cover all rare disorders. About 14,000 people live in Norway with a rare disorder, but with no defined resource centre. Our biggest challenge is to assure the same rights and services to these persons as to the rest of the population”. Consult the SINTEF group studies on rare disorders (in Norwegian)

 


 
National & International Policy Developments
 
Campaign to implement national strategy for rare disease patients at full throttle in the UK
 
In the United Kingdom, the All Party Parliamentary Group (APPG) for Rare Diseases was created to act as a forum in Parliament for patient groups, clinicians, officials, academics and industry to profile the needs of the rare disease community with parliamentarians. Ratcheting up the efforts to obtain a national plan for patients, Rare Disease UK, an alliance of key stakeholders, launched a letter writing campaign lobbying Members of Parliament to develop a strategy for caring for rare disease patients. This effort has borne fruit in the form of an encouraging reply from newly appointed Minister for Public Health, Gillian Merron, who confirms that the Department of Health is moving forward investigations as to how to implement a rare disease strategy in the UK. Nonprofit news digest BioNews gave the topic fresh exposure in their 17 August issue, which featured a commentary by Alastair Kent, Director of the Genetic Interest Group (GIG) and Chair of Rare Disease UK. The case for integrated service delivery in the UK for patients with rare diseases outlines the necessity and benefits of a strategic plan for rare diseases and warns against “slipping behind other EU Member States that are taking action. France has implemented a comprehensive plan, the Netherlands has implemented a national strategy and Italy has adopted regional strategies. Bulgaria and Portugal have also adopted national plans". Rare Disease UK has also established five multi-stakeholder Working Groups to look into various aspects of planning for rare diseases in the UK with the aim of aiding the government to come up with an effective strategy. With the concerted and sustained efforts of so many stakeholders – including policy makers - it seems hopeful that the UK won’t be lagging behind for long.
 
Other European news
 
Scientists in Europe create database for the spinocerebellar ataxia disorders
 
Expert scientists from Portugal, Belgium, the UK and Germany have created a new English-language database for the rare disease group spinocerebellar ataxias. Spinocerebellar ataxias are progressive, degenerative neurological inherited disorders for which multiple types have been identified. The SCAbase is an evidence-based online resource, which stores and provides information, for example, on genes, reference ranges for repeat sizes at the main SCA loci, and primers. The database for this group of rare disorders is mainly directed at professionals in the clinical, molecular diagnostic and research areas. Visit the SCAbase
 


 
Ethical, Legal & Social Issues
 
An ethical framework for the compassionate use of innovative treatments in children
 
A thoughtfully written article appearing in the Archives of Disease in Childhood notes that the “compassionate use of experimental treatments is becoming a necessity in paediatric practice, not least due to the relatively high number of rare, and occasionally unique, diseases”. Defining innovative therapy as “any newly introduced treatment, or a new modification to an existing therapy with unproven efficacy and side effect profile, which is being used in the best interests of a patient, often on an experimental and/or compassionate basis” the authors set out an ethical framework for the practice of administering experimental treatment in paediatric patients. The authors note that “Clinicians, who wish to use truly novel or compassionate treatments, face an increasingly complex system of guidelines, protocols and professional standards before they may embark upon them. … Furthermore, the often lengthy processes of application for research ethics review, with its increasingly laborious paperwork and stages of scientific and ethical review, may also be perceived as acting as a serious brake on innovation". In view of an increasing demand for therapeutic innovation, the authors set out an ethical framework for the use of experimental treatments in paediatric patients that encompasses the following factors:

  • There is a clear clinical need for this particular child
  • There is a realistic and reasonable scientific basis for what is proposed, which may be verified by an independent second opinion or review
  • There is realistic expectation that the child is likely to benefit from the intervention, for example some evidence from adult medicine, laboratory or animal research that this is likely to be the case
  • There is consensus in the team that what is proposed is in the child’s best interests and that there are no other reasonable or feasible or safer alternatives that might achieve the same result
  • The child’s family, and the child if competent or able to understand, actually does understand that the procedure is experimental and what its possible risks, benefits and alternatives are. The information standard should arguably be that which this family need to make the decision in question (consent)
  • Allowing for the pressures produced by the child’s clinical condition, there should be no coercion, and the family should be free to withdraw at any time
  • The resources utilised by offering the treatment must be justified against likely success
  • The results of the use must be reported, whatever the outcome
  • Consult an extract of this article

     


     
    EU Project Follow-up
     
    Following a successful pilot test, DYSCERNE’s Dysmorphology Diagnostic System launches in 26 European countries
     

    The 21 November 2007 issue of OrphaNews Europe reported the debut of a new European network created to improve the diagnosis, management and information dissemination for rare dysmorphic syndromes. DYSCERNE, the European Network of Centres of Expertise for Dysmorphology, kicked off in October 2007. In May of this year, the project successfully launched its electronic Dysmorphology Diagnostic System (DDS). All of the 76 proposed submitting centres have been invited to apply for DDS accounts and at the end of August 2009, 67 centres from 26 European countries have access to the on-line dysmorphology diagnostic system DDS.

    The aim of the DDS is to provide rapid and equitable access for clinicians to expert dysmorphologists’ opinions throughout Europe. The DDS software links 27 expert dysmorphologists from 20 European Centres of Expertise, forming a powerful web-based diagnostic resource. It allows clinicians to submit difficult to diagnose dysmorphic cases for review by this expert panel. A diagnostic report including suggestions for further investigation and clinical management of the case is prepared from the consensus of opinions received and sent to the submitting clinician.

    Prior to the full launch of the DDS, a four-month pilot test of the system was conducted, which involved seven centres (Istanbul, Leuven, Manchester, Marseille, Nijmegen, San Giovanni Rotundo, and Warsaw,) all of which were invited to submit cases for review by the DDS Expert Panel. During the pilot phase, 20 cases were reviewed by an average of five expert panel members with seven cases receiving between 6-10 reviews. All the cases could be described as complex phenotypes with combinations of dysmorphic features, varying congenital abnormalities affecting different body systems and a range of neurocognitive disabilities. Diagnoses (an average of 2.5 per case) and further investigations (an average of 3 per case) were suggested for all the cases, with molecular or cytogenetic tests being suggested for 19 of the 20 cases. Summary reports of the expert opinions on each case were prepared an average of six weeks after case acceptance onto the system. The traditional route for these difficult to diagnose dysmorphic cases would be presentation at national and international dysmorphology meetings - a process which can take many months and still not result in a diagnosis. Feedback on one of the pilot cases has already confirmed a suggested DDS diagnosis at the molecular level (Coffin Lowry Syndrome with a RSK2 mutation). Another case on the system is a possible new recessive condition that will be published in the near future as a case report.

    These promising early results, coupled with positive feedback from the pilot participants, indicate that the DDS provides a rapid and effective diagnostic service. Since the full launch of the DDS in May 2009, case submissions have averaged over five per month with summary reports of the expert opinions on the majority of cases being produced within 30 days of case acceptance. The DYSCERNE Coordinating Centre, based at Manchester University, UK, is anticipating that case submissions will steadily increase over the next few months as the centres with DDS accounts familiarise themselves with the system and incorporate it into their clinical practice. For more information on the DYSCERNE Network and the DDS visit the DYSCERNE website or contact Pam Griffiths, Project Manager.

     


     
    Orphanet News
     
    Orphanet website unveils expanded Research & Trials resources
     

    The Orphanet website’s Research and Trials section has undergone a major overhaul, vastly enhancing the functionality of the search engine and allowing users to effortlessly find the specific information they are seeking. Amongst the ameliorations, Clinical Trials and Research Projects now each have their own distinct sub-tab and another sub-tab has been added for Registries and Biobanks. Research projects that have produced a patent and offer a license though an institutional Office of Technology Transfer (OTT) will now have extra visibility via the new Licensing Offers sub-tab. The new Registries & Biobanks and Technology & Know-How sub-tabs permit users to explore key rare disease research resources and technological expertise. The site’s search engine has been streamlined to permit multi-criteria searches. Searches can now be conducted by institution or laboratory, by professional, by financial source, or by type of partnership, in addition to the existing search possibilities (by project name, by disease, by gene and by project type). This exciting new development is the fruit of a year of dedicated labour on the part of Orphanet’s information scientists and informatics team and has been possible due to funding from the European Commission (DG Research RD Platform HEALTH-F2-2008-201230).

     


     
    New Genes
     


     
    Joubert and MORM syndromes: INPP5E mutations destabilise the cilia
     
    Two separate research teams have identified mutations in the gene INPP5E in patients with MORM syndrome and with Joubert syndrome, respectively. These two syndromes belong to the same growing family of ciliopathies but present distinct characteristics. MORM syndrome is characterised by Mental retardation (intellectual deficit), truncal Obesity, Retinal dystrophy and Micropenis while Joubert syndrome is marked by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. The INPP5E gene is implicated in the stability of the primary cilium.
    Read the first PubMed abstract
    Read the second PubMed abstract

     
    To read more about "MORM syndrome"
    To read more about "Joubert syndrome"

     
    Nat Genet ; 1027-1031 ; September 2009

    Nat Genet ; 1032-1036 ; September 2009

     
    Paraganglioma: SDH5, required for flavination of succinate dehydrogenase, is mutated
     
    Starting with yeast as a model system, the authors investigated an uncharacterised but highly conserved mitochondrial protein (named here Sdh5). Both yeast and human Sdh5 interact with the catalytic subunit of the succinate dehydrogenase (SDH) complex, a component of both the electron transport chain and the tricarboxylic acid cycle. Sdh5 is required for SDH-dependent respiration and for Sdh1 flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene segregate with disease in a family with hereditary paraganglioma, a neuroendocrine tumour previously linked to mutations in genes encoding SDH subunits.
    Read the PubMed abstract

     
    To read more about "Hereditary pheochromocytoma-paraganglioma syndrome"

     
    Science ; 1139-1142 ; 28 August 2009
     
    Pleuropulmonary blastoma: DICER1 mutations at cause in the familial form
     
    Pleuropulmonary blastoma (PPB) is a rare paediatric lung tumour that is often part of an inherited cancer syndrome. PPBs consist of mesenchymal cells that are susceptible to malignant transformation and cysts lined by epithelial cells. In a subset of patients, overgrowth of the cysts by mesenchymal cells leads to sarcoma formation. Here, the authors show that 11 multiplex PPB families harbour heterozygous germline mutations in DICER1, a gene encoding an endoribonuclease critical to the generation of small noncoding regulatory RNAs. Expression of DICER1 protein was undetectable in the epithelial component of PPB tumours but was retained in the malignant mesenchyme (sarcoma). The authors hypothesise that loss of DICER1 in the epithelium of the developing lung alters the regulation of diffusible factors that promote mesenchymal proliferation.
    Read the PubMed abstract

     
    To read more about "Pleuro-pulmonary blastoma"

     
    Science ; 965 ; 21 August 2009
     
    Congenital dyserythropoietic anemia type II: mutations affecting the secretory COPII coat component SEC23B at cause
     
    Congenital dyserythropoietic anemias (CDAs) are phenotypically and genotypically heterogeneous diseases. CDA type II (CDAII), the most frequent CDA, is characterised by ineffective erythropoiesis and the presence of bi- and multi-nucleated erythroblasts in bone marrow, with nuclei of equal size and DNA content, suggesting a cytokinesis disturbance. Individuals with CDAII show progressive splenomegaly, gallstones and iron overload potentially with liver cirrhosis or cardiac failure. The authors show that the gene encoding the secretory COPII component SEC23B is mutated in CDAII. Short hairpin RNA-mediated suppression of SEC23B expression recapitulates the cytokinesis defect. Knockdown of zebrafish sec23b also leads to aberrant erythrocyte development.
    Read the PubMed abstract

     
    To read more about "Dyserythropoietic anemia, congenital, type II"

     
    Nat Genet ; 936-940 ; August 2009
     
    Atypical hemolytic-uremic syndrome has thrombomodulin mutations
     
    Hemolytic-uremic syndrome is characterised by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. The common form of the syndrome is triggered by infection with Shiga toxin-producing bacteria and has a favourable outcome. The less common form of the syndrome, called atypical hemolytic-uremic syndrome, (accounting for about 10% of cases) has a poor prognosis. The authors describe here mutations in the thrombomodulin gene (THBD) in 7 unrelated patients and conclude that mutations impairing the function of thrombomodulin occur in about 5% of patients with atypical hemolytic-uremic syndrome.
    Read the PubMed abstract

     
    To read more about "Atypical hemolytic uremic syndrome"

     
    N Engl J Med ; 345-357 ; 23 July 2009
     
    Dilated cardiomyopathy: identification of cardiac troponin I in the autosomal dominant form
     
    Idiopathic dilated cardiomyopathy (DCM) is inherited in approximately one third of cases, usually as an autosomal dominant trait. One contractile protein gene well known as a hypertrophic cardiomyopathy disease gene, but with no reported mutation in autosomal dominant DCM, is TNNI3 which encodes cardiac troponin I. The authors report two novel TNNI3 missense mutations, each associated with severe and early onset familial DCM. These are the first reported autosomal dominant DCM-causing mutations in TNNI3, expanding the spectrum of disease-causing genes that lead to DCM.
    Read the PubMed abstract

     
    To read more about "Cardiomyopathy, familial dilated"

     
    Circ Res ; 375-382 ; 14 August 2009
     


     
    Research in Action
     

     
    Diagnostic Approaches
     
    Inherited predisposition to cancer: acceptability of preimplantation and prenatal genetic diagnosis for management
     
    Preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) practices for inherited predisposition to cancer are heterogeneous in industrialised countries. This French study examined professionals’ attitudes toward the acceptability of PGD and PND for inherited predisposition to cancer. When severe cancer is liable to occur in childhood with a high penetrance and no effective methods of prevention/treatment exist, high rates of acceptability of PGD/PND were recorded (> 80%). Most respondents agreed that the acceptability of PND/PGD depends on the patient’s family history of cancer and their reproductive history. With the most severe forms of inherited cancer, no differences were observed between the acceptability of PND and PGD, but with late-onset syndromes, there is still much uncertainty. Guidelines would help to standardise the professional practices.
    Read the PubMed abstract

     
    J Clin Oncol ; Epub ahead of print ; 24 August 2009
     
    Cystic fibrosis and haemoglobinopathies: what determines participation in preconceptional carrier couple screening?
     
    The authors explore the determinants of the intention to participate or not and of actual participation in preconceptional ancestry-based carrier couple screening for cystic fibrosis (CF) and haemoglobinopathies (HbPs). A survey was completed by 418 survey participants: 171 who intended to participate in testing, and 247 who refrained from test participation. Preconceptional ancestry-based CF and HbPs carrier screening was evaluated as positive and desirable among Western and non-Western survey participants. The effort and time needed for participation were important reasons for declining participation, which might be overcome by improving access to the screening.
    Read the PubMed abstract

     
    To read more about "Cystic fibrosis"

     
    Eur J Hum Genet ; 999-1009 ; August 2009
     


     
    Patient Management and Therapy
     


     
    Thiopurine s-methyltranferase deficiency is tested more frequently for patients administered azathioprine
     
    Azathioprine, an immunosuppressor used notably following organ transplantation is converted in the body to the active metabolites 6-mercaptopurine and 6-thioinosinic acid. Thiopurine s-methyltranferase deficiency is an enzymatic anomaly that causes a sensitivity to 6-mercaptopurine. Patients with this deficiency who are administered azathioprine present an elevated risk of myelosuppression that can lead to potentially fatal neutropenic sepsis. A European Commission study presents here data from the United Kingdom and Spain that demonstrate that the number of tests for thiopurine s-methyltranferase deficiency have increased considerably in recent years. Further data are needed to determine the cost-effectiveness of routine testing for this deficiency.
    Read the PubMed abstract

     
    To read more about "Thiopurine s-methyltranferase deficiency"

     
    Eur J Hum Genet ; 991-998 ; August 2009
     


     
    Orphan Drugs
     


     
    Mucopolysaccharidosis VI: Expensive drugs for rare disorders - the case of enzyme replacement therapy
     
    Mucopolysaccharidosis VI (MPS VI) is a very rare, chronically debilitating lysosomal storage disorder. The recent introduction of enzyme replacement therapy (ERT) has improved considerably the lives of patients with MPS VI, at an annual cost of treatment between €150,000 and €450,000 per patient. This commentary article addresses the controversial topic of granting reimbursement for expensive treatment options for orphan diseases, such as MPS VI. The discussion reflects clinical, economic and ethical aspects and incorporates insights from the relevant literature, efficacy of ERT, orphan drugs, and the economics and ethics of health-care prioritisation. Although ERT for MPS VI received marketing authorisation in the European Union in January 2006, patient access to therapy varies geographically due to differences between national reimbursement schemes for orphan drugs. Some inclusion and exclusion criteria for treatment of MPS VI patients with ERT appear arbitrary and may contribute to the exclusion from treatment of patients who could benefit in the long term. Reimbursement schemes which rely on proof of short-term treatment effectiveness may discriminate against slowly progressive patients, as health gain can often not be confirmed over a short period of time in these patients. Conventional cost-effectiveness analysis remains silent on crucial issues related to budgetary impact, i.e. opportunity cost from a system perspective, and fair access to treatment. To prevent patients from being deprived of effective treatment, it is suggested that inclusion and exclusion criteria for treatment should be primarily based on a careful individual assessment of expected long-term clinical benefits. Once treatment has been agreed to as the correct option on clinical grounds, it is further argued that the conventional cost-effectiveness criterion currently in widespread use does not offer a sufficient basis for rejecting reimbursement of expensive treatments for exceptionally rare disorders, providing that decisions on reimbursement are intended to reflect public preferences.
    Read the PubMed abstract

     
    To read more about "Mucopolysaccharidosis type 6"

     
    Curr Med Res Opin. ; 1285-1293 ; May 2009
     
    An Australian expert examines whether there is any magic happening in the “Land of Oz” to save the therapeutic orphan
     
    A conference paper published in the journal Pediatric Drugs considers the contribution Australia is making to the global drug market for paediatric patients. Australia represents <1% of the world pharmaceutical market, with the paediatric market being a fraction of this. While Australian prescribers face many of the same issues as those in other developed countries in relation to medicines for children, Australia’s ability to influence the global market has been seen as limited, and it has been hoped that Australian children would benefit from international efforts in the area of medicines for children. This, however, has not occurred and there has been very little change in the availability of medications for children in Australia over the past two decades. A number of studies have examined the issue of medication for children in Australia and what could be done to improve. Recently, two significant events have occurred: the first is the establishment of a paediatric medicines advisory group by the Australian government and the second is the decision to fund the development of a national paediatric dosing reference. While these events represent significant progress, they are the first of many steps required to improve medications for children in the ‘Land of Oz’.
    Consult the PubMed abstract

     


     
    Grants
     


     
    French Muscular Dystrophy Association launches international call for proposals
     
    The French Muscular Dystrophy Association (AFM) has two missions: curing neuromuscular diseases and reducing the disabilities they cause. The AFM is launching an international call for proposals to support research that will lead to a better fundamental understanding of the neuromuscular system, encourage the development of therapies for neuromuscular diseases and rare genetic conditions, and improve the care and quality of life for patients with neuromuscular diseases. Financing is available to support new investigators entering the field of neuromuscular diseases; investigators early in their science careers; established neuromuscular researchers who will propose innovative projects which do not require preliminary data; PhD fellowships; and/or post-doctoral fellowships. The deadline for applications is 02 October 2009 for the first session and 05 March 2010 for the second session.
    Consult the offer

     


     
    What's on Where?
     


     
    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

     
    XXth Congress of International Society of Haematology - European and African Division
     
    Date: 10-13 October 2009
    Venue: Cairo, Egypt

    Including up to date knowledge and the most recent scientific achievements in the field.
    For further details

     
    ESH Conference on Myelodysplastic Syndromes
     
    Date: 22-25 October 2009
    Venue: Mandelieu, France

    Covering diagnostics, overlapping syndromes, treatment approaches and more. Deadline for scholarships and abstracts: 15 September 2009
    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

     
    European Society for Phenylketonuria Annual Conference 2009
     
    Date: 30 October – 1 November 2009
    Venue: Antalya, Turkey

    The conference offers the opportunity to exchange the latest experiences via workshops and presentations. Delegates of member associations will discuss the situation regarding European health politics and European networks. An industrial exhibition will inform on the latest product developments.
    For further details

     
    International Patient Organisation for Primary Immunodeficiencies – First Global Leaders Meeting
     
    Date: 30 October – 1 November 2009
    Venue: London, UK

    Providing a platform for a global collaboration of all stakeholders, this meeting seeks to establish international priorities to improve diagnosis and management of the primary immunodeficiencies through research, advocacy and education.
    For further details

     
    TREAT-NMD/NIH International Conference
     
    Date: 17-19 November 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

     
    OI in motion: Rehabilitation and Physiotherapy in Osteogenesis Imperfecta
     
    Date: 20-22 November 2009
    Venue: Rheinsberg, Germany

    Topics include: Rehabilitation of children; rehabilitation of adults; assessments of motor functions; orthoses/mobility aids; and international experiences.
    For further details

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

    A conference of the European Science Foundation. The meeting will bring together experts in sensory neuroscience, developmental biology, genetics, cell biology, modelling, translational research and therapy. It aims at promoting exchanges between the scientists of the two fields and beyond, at stimulating the emergence of new research projects at the interface between disciplines and at training young researchers in this interdisciplinary field.
    For further details

     
    International Conference on Myasthenia
     
    Date: 1-2 December 2009
    Venue: Paris, France

    The conference will bring together research scientists and clinicians from around the world who specialise in myasthenia, to review the latest developments, exchange experiences and ideas, and broaden knowledge and understanding of this rare disease. A session dedicated to the interaction between clinicians, scientists, and patient associations is also scheduled.
    For further details

     
    2nd Pan-European Conference on Haemoglobinopathies
     
    Date: 13-14 March 2010
    Venue: Berlin, Germany

    This conference aims to further strengthen the national and regional support networks for thalassaemia patients in Europe, and increase awareness among European medical professionals and national health authorities of the disorder, its proper management and prevention.
    For further details

     
    6th International Conference on Rare Diseases and Orphan Drugs
     
    Date: 18-20 March 2010
    Venue: Buenos Aires, Argentina

    The 6th International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) for the first time will be convened in the southern hemisphere in agreement with its aim of globalisation of rare disease research and orphan products development activities.
    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.

     
    5th European Conference on Rare Diseases 2010
     
    Date: 13-15 May 2010
    Venue: Crakow, Poland

    Details will be available soon.

     
    Men 2010: 12th International Workshop on Multiple Endocrine Neoplasia
     
    Date: 16-18 September 2010
    Venue: Viareggio, Italy

    This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
    For further details

     


     
    Press & Publications
     


     
    Genetic Diseases of the Kidney
     
    R. Lifton, S. Somlo, G. Giebisch, D. Seldin –Eds.
    Academic Press, 2008
    ISBN-13: 978-0-12-449851-8

    Genetic Diseases of the Kidney identifies and analyses genetic abnormalities causing renal diseases in human subjects. In many instances renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environment from intrauterine or postnatal influences. These considerations have determined both the organisation of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge.

     
    Pediatric Endocrinology and Inborn Errors of Metabolism
     
    G. Hoffmann, K. Roth –Eds.
    McGraw-Hill, 2008
    ISBN-13: 978-0071439152

    In one practical tutorial, a team of international contributors delivers the latest information and clinical insights to diagnose and manage paediatric patients. This full-colour resource discusses etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatment regimens for each disorder. The text features a chapter on newborn screening that walks the reader through an abnormal screening result to follow-up diagnostic testing, and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines.

     


     
    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the Rare Diseases Task Force
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