15 June 2011 print
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Joint Action launches Orphanet into the next dimension
Orphanet was created in 1997 to address identified problems in the field of rare diseases, including a lack of information, scarce expertise, patient isolation and a lack of collaboration in research. Initially a French organisation, Orphanet began branching out throughout Europe ten years ago and is present today in almost 40 pan-European countries. Orphanet is accessed over 20,000 times per day, by users in more than 200 different countries. The rare disease information portal has now taken another important step forward with the Joint Action, an instrument that combines funding from the European Commission with each of the participating Member States (MS), as well as from Switzerland, a collaborating partner. The three-year €7.2 million Joint Action began on 1 April and the first Kick-Off Meeting, gathering all national country coordinators and MS health representatives to a one-and-a-half-day meeting in Paris took place on 7 and 8 June. The meeting had a rich agenda, which included reviewing the contents and operating procedures of Orphanet, brain-storming to identify priority actions on the national and European levels, and establishing governance.

Orphanet is identified as a strategic instrument for the rare disease national strategies that each MS is encouraged to develop by the end of 2013 under the Council Recommendation on an Action in the Field of Rare Diseases (2009/C151/02) adopted on 9 June 2009. The overriding aim of the Joint Action is to improve and adapt the presence of Orphanet in each participating country. Objectives thus include improving the existing services –including the inventory of rare diseases and the classification being elaborated via a collaboration with World Health Organization expert groups; concentrating on expanding and updating the core encyclopaedia of rare diseases; and annotation with signs and symptoms. Developing new tools and services are also objectives of the Joint Action, including building an Orphanet ontology and developing several new services. Priority initiatives that are natural to the Joint Action include expanding the language availability of the Orphanet database and related documents. Polish and Flemish are amongst languages that could be added soon to the six official existing European languages of the site (English, French, German, Italian Portuguese, and Spanish). The Orphanet Clinical Guidelines were also amongst the documents considered a priority for translation into national languages. Capitalising on the newly developed Orphadata tools (learn more) the Joint Action country partners will be able to customise the popular Orphanet Report Series to feature national data. Orphanet country sites will also be developed under the Joint Action, allowing each country to feature its own special mix of news, publications and events related to rare diseases and orphan drugs in its own language. Orphanet will also become a more interactive site via the activities of the Joint Action. Indeed, the “IT side” of Orphanet was presented and discussed, including the new challenges expanded services and languages engender.

Putting in place appropriate governance is one the biggest changes the Joint Action ushers in, one which will encompass all the partner countries in the Steering Committee, in charge of supervising national activities and formulating future strategies. The Orphanet Joint Action will also have an external International Advisory Board which will report to the Steering Committee and review all the Joint Action activities.

Within the framework of the Joint Action, Orphanet seeks to become more cost-effective, more user-friendly and to achieve sustainability. Despite an immense number of complex challenges and opportunities the Joint Action creates for the Orphanet country partners, the meeting participants moved bravely forward, always keeping their eyes on the ultimate prize: improving conditions for rare disease patients and their families throughout Europe and beyond.

Spotlight on...
European rare disease networks need sustainable funding
Case in point: the Paediatric Hodgkin Network and Dyscerne Network

In the European Union, the Council Recommendation of 8 June 2009 on an action in the field of rare diseases encourages the gathering of national expertise and pooling such expertise with European counterparts in order to support “…the sharing of best practices on diagnostic tools and medical care as well as education and social care in the field of rare diseases”. Furthermore, the Recommendation asserts that the Member States (MS) “…together with the Commission, aim to ensure, through appropriate funding and cooperation mechanisms, the long-term sustainability of infrastructures developed in the field of information, research and healthcare for rare diseases”. European networks in the field of rare diseases can be research networks (sharing data, repositories of biological samples and expertise for research purposes) or public health networks (sharing clinical experience to manage difficult cases, producing clinical guidelines and information and documenting the natural history of diseases). The rationale for developing European networks stems from the recognition that with almost 7000 rare diseases identified to date, it is impossible for most countries to offer expertise and appropriate services to all patients.
The European Paediatric Hodgkin Network launched in August 2008 via a three-year funding contract from the DG Sanco Public Health Programme with goals including the standardisation of diagnostics and treatment for paediatric Hodgkin lymphoma, independent of the socioeconomic background of the patients, the organisation of national health care programmes, or the number of cases newly diagnosed in these countries. Aiming for high cure rates and significant reduction of late effects, other goals included producing fast and secure image data transfer from treating centres to a super-server, and teleconferences/web meetings for knowledge transfer and individual case discussion.

Based in Leipzig, Germany, with partners in 11 countries, the project built a network of some 100 sites in 16 MS countries that could send medical data (typically PET, CT scans, and MRIs) via a highly functional data transfer tool, allowing a second opinion to be elaborated for specific patient treatment protocols. Pinpointing the optimal treatment strategy is crucial for Hodgkin lymphoma in order to avoid unnecessary late effects, including second malignancies, infertility, and diseases of the heart and lungs, all of which can originate from the treatment – specifically, the radiotherapy that follows chemotherapy treatment.

There are an estimated 500 cases of paediatric Hodgkin lymphoma across Europe per year. Presently, about half of all diagnosed patients need the follow-up radiotherapy while in the previous study generations more than 85% of patients had to be irradiated. The second opinion offered by the network allows an expert group to establish the optimal treatment level that will treat the lymphoma thereby possibly side-stepping the late effects. Determined by a reference board that meets weekly to discuss submitted cases, individual treatment protocols are tailored for each patient, based on the data submitted, and are usually delivered in a matter of days. Approximately 35 - 40 cases are evaluated each week. Other activities of the project include a patient registry to conduct further treatment optimisation studies and the publication of treatment protocols.

EC funding is now winding down for the Paediatric Hodgkin Network, and, as has been seen with other efficient EU-funded public health networks of expertise for rare diseases that similarly allow the data to travel, avoiding the expensive and laborious process of requiring a sick patient (and parents) to travel to a foreign country to find adequate expertise, the project leaders find themselves left in the lurch financially.

The Dyscerne project for rare dysmorphologies, which currently operates largely on a volunteer basis, is another example of a successful network that has not been able to identify a long-term fund source. Following the end of EC funding, and an unsuccessful application for an operating grant, there has been no designated funding for Dyscerne. The Dyscerne reviewers and project leader Professor Jill Clayton-Smith have kept things going by continuing to put cases on the system and reviewing them on their own time in evenings and at weekends. This has resulted in a reduced level of service, as there is not enough time to process all the cases received in a timely fashion, but the project partners all feel strongly that Dyscerne provides a much-needed service and don't want to let it go. The home institution's charity funding has been used to pay the software company to keep the system up and going and the European Society of Human Genetics has donated €6000 towards providing site licences for wider access. Despite these problems, interest in the system increases and access has been extended beyond the EU to case submitters as far away as Australia, India and Sri Lanka. The positive feedback received from case submitters upon receiving their final reports spur the project partners to continue, but other demands on time and the continuing need for service costs mean that the network is not sustainable in the long-term. It is a matter of time before it must shut down.

In the case of the Paediatric Hodgkin Network, the national German health insurance scheme is paying for the second opinion for the German patients, but the Network participants do not have the time and resources to obtain a similar agreement with the insurance schemes of other participating countries.

The situation illustrates the urgent need for a mechanism that would allow successful rare disease public health networks to continue operating at the end of their EC funding periods. The maintenance costs for sending, viewing and server storage for data, along with the technical help desk, would run to approximately €50.000 per annum for the Paediatric Hodgkin Network. The project has other operational costs such as staff fees for reference evaluation of each patient’s original data (expert physicians in oncology, radiology, or nuclear medicine) as well as the work of data managers. Further EU co-financing does not look likely: since the project partners are all university clinics, they are not eligible for EU Health Programme Operational Grants. On the other hand, to apply for a new EC project grant would entail adding new elements to the existing structure, something the Paediatric Hodgkin Network is not prepared to do.

How then can individual MS countries and the EC collaborate to ensure the ongoing funding of successful networks for rare diseases? Although the problem faced by European Networks of Reference regarding their financial sustainability is well recognised at the European level, there is no ready answer to this issue. Experts suggest that the best way to ensure that a project can be maintained after the three-year EC funding expires is to include a specification in the eligibility criteria that would require a funding mechanism be identified at the national level(s) at the time of application that would continue supporting the activity post EC-funding.

Others have suggested that the recently adopted Cross-Border Health Directive could be adapted to allow data to travel in such a way that would side-step lengthy permission-seeking procedures. When it comes to rare disease diagnostics and treatments such as paediatric Hodgkin lymphoma, timing is critical to achieve the optimal outcome for patients. Stakeholders fear that the prior approval required at the MS level by the new Directive could thwart the possibility of getting patients optimal treatment in a timely manner.

The rare disease public health networks allow patients from financially strapped countries in Europe equal access to existing expertise and thus offer all patients a shot at the same treatment protocols. With all the talk of equality for rare disease patients, it would be a waste of money to let such networks develop and operate for a short period, only to see them fall by the wayside when their EC funding terminates. But the for Paediatric Hodgkin Network, the future of the project looks precarious as there will be no main source of financial support to ensure the network’s survival, if the MS do not step up to cooperate in supporting these vital rare disease instruments.


EU Policy News
EMA faces scrutiny at the bid of the European Parliament
According to several news sources, the European Parliament has ordered the European Court of Auditors to investigate the European Medicines Agency (EMA), citing concern around the independence of experts and staff evaluating medicinal products, amongst other issues. Health Action International and Corporate Europe Observatory sent an open letter to the Members of Parliament in early May urging the audit. Pending the investigation, the Parliament has postponed signing off the agency’s financial account for 2009. Increasing transparency has been identified as an urgent measure needed to eliminate conflict-of-interest in the evaluation process of medicinal products. On 1 June the EMA, with the Heads of Medicine Agencies, released a guidance document concerning the potential release of “commercially confidential” information within the structure of the marketing-authorisation dossier. This draft document is open for comment until 1 September 2011. In the meantime, the European Court of Auditors will be assessing the EMA


National & International Policy Developments
Other European news
Rare diseases in the country of Georgia
Georgian Medical News (GMN) is a peer-reviewed Georgian-Russian-English-German-language monthly devoted to diverse medical topics. The April 2011 issue, freely available online, provides a window into the country’s rare disease activities, including a summary of the International Conference on Rare Diseases that took place in Tbilisi, Georgia in September - the first event dedicated to rare diseases in the Southern Caucasus. The special issue of GMN opens with an Editorial comment from Karaman Pagava, Professor of Child and Adolescent Medicine at the Tbilisi State Medical University, who evokes the impact the Georgian Alliance of Rare Diseases has had on stimulating activity in the country, which in 2009 launched the project “Management Optimization of Rare Diseases in Children and Adolescents”. Several of the activities of this project are described within this issue of GMN, alongside contributions from international experts from Spain, Bulgaria, Italy and other countries. Article titles include “Management Options for Rare Diseases in Children and Adolescents in Georgia (Experience of the Country with Transitional Economy); Purposefulness of Using Fuzzy Logic Approach in the Rare Disease Clinical Trials; and other studies that discuss aspects of individual rare diseases (including cystic fibrosis, osteogenesis imperfecta, Marfan syndrome, thalassaemia,; and Hallermann-Streiff-Francois syndrome).
In Italy, the UNIAMO Fantàsia restaurant is a tool for patient empowerment

Empowerment of rare disease patients has been identified as a concrete priority by UNIAMO, the Italian Federation for Rare Diseases. In 2009, this association set up a social enterprise, UNIAMO–GOLDIN, whose aim is to foster, realise and manage social projects. One of its first goals was to invest in social tourism, capitalising on the attraction of Venice, where the social enterprise has its offices. The result is the creation of Fantàsia, the restaurant where dreams come true. Fantàsia is located in central Venice, close to the San Marco square, at Castello 3911, in the Bragora district. The restaurant opened on 21 May in the presence of the representatives of the Veneto region, the Italian Minister of Health, the UNIAMO board and several federate patient organisations.

The Fantàsia restaurant is named after the parallel world of The Never-Ending Story, the well-known tale by Michael Ende. In the magic world of Fantàsia, it is possible to go beyond space-time limits, physical boundaries and mental barriers, imaging the future and rewriting the past, and, most importantly, reinventing the present in order to surmount human indifference. With the Fantàsia restaurant initiative, UNIAMO intends to contribute to the integration and professional training of disabled and/or disadvantaged individuals affected by rare diseases, to change them from a so-called social burden into a resource for the community. Fantàsia intends to cooperate in the promotion of cultural events and social and accessible tourism. The UNIAMO-GOLDIN enterprise plans to open similar restaurants in other Italian cities such as Rome and Naples.

Informal UK study gives an idea of how much one rare condition costs per year
A volunteer for the UK-based Alkaptonuria Society has produced a study calculating the average cost of an alkaptonuria (AKU) patient to the National Health Service. AKU is characterised by the accumulation of homogentisic acid and its oxidised product benzoquinone acetic acid, leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix, and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). Annual AKU patient costs can be steep (as much as £100,000 [€112,481] per patient per year in some cases) but the study shows that costs could be reduced via consistent, timely access to proper treatment. Such access would also improve the health and well-being of patients, as delayed diagnosis is expensive and detrimental to patient outcome. The study also discusses the off-label usage of nitisinone, a product granted orphan designation in 2002 in Europe for the treatment of alkaptonuria and which has marketing authorisation for the treatment of hereditary tyrosinemia type 1. In off-label use involving two AKU patients, nitisinone showed significant potential with annual costs between £3000-£6000 [€3369-€6749] per patient. The study suggests that if prescribed early enough in life, nitisinone “… could significantly reduce or prevent the debilitating clinical symptoms of AKU, wiping out any need for joint surgery and other interventions”.
Consult the AKU cost study

Other International News
First World Primary Immunodeficiencies Week increases recognition
The first World Primary Immunodeficiencies Week (WPIDW) was held from 22-29 April this year. Primary immunodeficiencies (PID) are a group of over 200 rare life-threatening disorders affecting the immune system. Without early diagnosis and appropriate treatment, people living with PID are vulnerable to infection caused by viruses and bacteria. WPIDW seeks to build on the success of the Day of Immunology launched on 29 April 2005 by the European Federation of Immunological Societies (recognised internationally since 2007) to raise awareness amongst the public, media, and policy-makers of the importance of the immune system in everyday life. The PID stakeholder community decided to create a global movement - one week that would raise global awareness for issues affecting the PID community such as the need for early diagnosis and optimal treatment. Thus a steering committee composed of organisations including the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the Jeffrey Modell Foundation (JMF), the European Federation for Immunodeficiencies (EFIS), the European Society for Immunodeficiencies (ESID), the International Nursing Group for Immunodeficiencies (INGID), the African Society for Immunodeficiencies (ASID), the Latin American Society for Immunodeficiencies (LASID) and the Clinical Immunology Society (CIS) worked on the preparation of the first WPIDW.

In Europe, successful awareness and advocacy campaigns took place in Austria, France, Germany, Greece, Spain, and the UK, amongst other countries. While the campaigns varied from country to country, they all shared common objectives:
  • Driving the recognition of PID as an increasingly important public health priority
  • Increasing the recognition of PID among parents, school teachers, day care centre employees, physicians, researchers and nurses, to increase the understanding of the disease and promote early diagnosis
  • Demonstrating how available resources can help government agencies to promote the timely diagnosis and treatment of PID patients
  • Promoting a model combining international awareness and physician education with an infrastructure to diagnose and treat PID
  • Stimulating efforts to improve the recognition, diagnosis, treatment and quality of life of persons with PID world-wide

  • The first World Primary Immunodeficiencies Week was a success story for the PID community, following in the footsteps of other successful developments such as the European Consensus Conference on Primary Immunodeficiencies in 2006 and the recently released EU Expert Recommendations for Better Management of Primary Immunodeficiencies.

    A look at the USA's Undiagnosed Diseases Program yields some lessons taken from the first three years
    A brief commentary appearing in the Journal of the American Medical Association recounts the “lessons learned” since the National Institutes of Health Undiagnosed Diseases Program launched in mid-2008. These lessons include the observation of how crucial diagnosis is to patients and their entourage and should ideally come with “an understanding of disease pathogenesis, linking genetic and clinical findings and informing prognosis and therapy”. Diagnosis for rare disease patients is often delayed due to the unavailability or high cost of the technology involved. Or, “uncertain diagnoses” are made for billing reasons. Another lesson, gleaned from the large percentage of patients with neurologic findings (nearly half of all cases, almost equalling the total number of patients from all other specialties combined), is the role of the brain as the “next frontier for medicine”. Some 20%-25% of patients admitted into the Undiagnosed Diseases Program received a diagnosis via “clinical, biochemical, pathologic, or molecular grounds”. Two new disorders have been described, several others “are in the process of being defined and approximately 25 ultrarare and rare diseases were identified. New constellations of findings have been recognized to represent potentially novel diseases”.
    Consult the PubMed abstract


    Ethical, Legal & Social Issues
    The value of orphan drugs: a pharmaco-economic perspective
    A thought-provoking article appearing in the Journal of Clinical Pharmacy and Therapeutics considers the current strategies via which countries determine the cost-effectiveness of medicines. Such cost-effectiveness formulas inform policy making for pricing and reimbursement. Using orphan medicines for cancer as a model, the authors ask how can a high cost-effectiveness ratio, weak clinical data, and absence of an alternative therapy be aggregated in the decision process of whether to cover a medicine for an orphan disease? With more products coming on the market for orphan diseases, health technology assessment for rare disease treatments is an increasingly important issue for patients and policymakers alike. This article, which sifts through the literature to identify “illustrative examples”, adds to what is known about current strategies for determining decisions on the funding of expensive medicines, including pricey biotechnology medicines and highlights certain challenges and considerations. As the authors point out, “Economic evaluation rephrases the question of how much the life of a cancer patient is worth into the question of how much society is willing to pay per quality-adjusted life year (QALY) of the cancer patient”. Cost-effectiveness thresholds representing the maximum cost per QALY that society is willing to pay for a health technology are used to inform pricing and reimbursement decisions in several countries – including certain European countries.
    Read the PubMed abstract


    New Syndromes

    Intellectual disability, motor dysfunction and multiple joint contractures due to a mutation of ERLIN2
    The authors present a family with an autosomal recessive disease characterised by progressive intellectual disability, motor dysfunction and multiple joint contractures. They identified a homozygous frameshift mutation in ERLIN2, predicted to lead to a truncated protein.
    Read the PubMed abstract

    Hum Mol Genet ; 1886-1892 ; 15 May 2011
    A severe lipodystrophic phenotype potentially associated with cardiac conduction disturbances caused by mutated prelamin-a
    Seven women were referred for a severe partial lipodystrophic syndrome with diabetes and/or acanthosis nigricans, liver steatosis, hypertriglyceridaemia, and low serum leptin and adiponectin levels. Three probands also had severe cardiac rhythm and conduction disturbances. The authors identified in all probands a homozygous LMNA p.T655fsX49 mutation leading to expression of a mutated prelamin-A which could not be posttranslationally farnesylated and matured. Heterozygous relatives were asymptomatic or partially affected, in favour of a codominant transmission of the disease with incomplete penetrance in heterozygotes.
    Read the PubMed abstract

    J Clin Endocrinol Metab ; E856-E862 ; May 2011
    A familial Alzheimer disease-like tau pathology associated with a rare PRNP mutation
    The proband, like her deceased mother, presented with a history of progressive short-term memory impairment and depression. Both were diagnosed with Alzheimer disease. Neuropathologic evaluation revealed immunopositive neurofibrillary tangles, with multiple tau antibodies, but the neuritic plaques were immunonegative for Aβ, whereas immunostaining for prion protein was positive. Genetic analysis revealed that both subjects had a rare nonsense mutation (Q160X) of the prion gene (PRNP) that resulted in the production of truncated prion protein.
    Read the PubMed abstract

    Ann Neurol ; 712-720 ; April 2011
    A familial syndromal form of omphalocele with facial dysmorphism reminiscent of Robinow syndrome
    The authors describe a family with facial dysmorphism somewhat reminiscent of Robinow syndrome observed in 3 generations. Four sibs in the second generation had large omphaloceles. One child had ectrodactyly. Genomic rearrangements and WNT5A or ROR2 mutations (the two genes previously found associated with Robinow syndrome) were excluded in this family. The authors feel it is reasonable to consider this family as expressing a “new” syndrome related but different from Robinow syndrome, associating facial dysmorphism and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out.
    Read the PubMed abstract

    Eur J Med Genet ; 337-340 ; May-June 2011

    New Genes

    Idiopathic interstitial pneumonia and idiopathic pulmonary fibrosis: association with a polymorphism in the MUC5B promoter
    Read the PubMed abstract
    To read more about "Idiopathic interstitial pneumonia"
    To read more about "Idiopathic pulmonary fibrosis"

    N Engl J Med ; 1503-1512; 1576-1577 ; 21 April 2011
    Perrault syndrome: mutations in mitochondrial histidyl tRNA synthetase HARS2 at cause
    Read the PubMed abstract
    To read more about "Perrault syndrome"

    PNAS ; 6543-6548 ; 19 April 2011
    Steroid resistant nephrotic syndrome with sensorineural deafness: a disease due to mutations in COQ6
    Read the PubMed abstract
    To read more about "Coenzyme Q 10 deficiency"

    J Clin Invest ; 2013-2024 ; 2 May 2011
    Fatal autosomal recessive infantile hypertonic muscular dystrophy: a myofibrillar myopathy caused by CRYAB mutation
    Read the PubMed abstract
    Ann Neurol ; 866-871 ; May 2011
    Familial short QT syndrome: identification of a loss-of-function mutation in a calcium channel subunit gene, CACNA2D1
    Read the PubMed abstract
    To read more about "Familial short QT syndrome"

    Eur Heart J ; 1077-1088 ; May 2011
    Autosomal dominant optic atrophy: a clinically complex form maps on chromosome 16q21–q22
    Read the PubMed abstract
    To read more about "Autosomal dominant optic atrophy"

    Hum Mol Genet ; 1893-1905 ; 15 May 2011
    Familial dilated cardiomyopathy: association of mutations in the mitochondrial thioredoxin reductase gene TXNRD2
    Read the PubMed abstract
    To read more about "Familial dilated cardiomyopathy"

    Eur Heart J ; 1121-1133 ; May 2011
    Chronic mucocutaneous candidiasis: mutations identified in IL-17 receptor A and IL-17F genes
    Read the PubMed abstract
    To read more about "Chronic mucocutaneous candidiasis"

    Science ; 65-68 ; 1 April 2011
    Hydrolethalus and acrocallosal syndrome: KIF7 is a causal gene
    Read the PubMed abstract
    To read more about "Hydrolethalus"
    To read more about "Acrocallosal syndrome, Schinzel type"

    Nat Genet ; Epub ahead of print ; 8 May 2011

    Research in Action

    Fundamental Research
    Marshall syndrome with periodic fever: a disorder of innate immunity and Th1 activation responsive to IL-1 blockade
    Read the PubMed abstract
    To read more about "Marshall's syndrome with periodic fever"

    PNAS ; 7148-7153 ; 26 April 2011
    Sickle cell anaemia: insight into molecular mechanisms via which sickle Hb confers host tolerance to severe forms of malaria
    Read the PubMed abstract
    To read more about "Sickle cell anemia"

    Cell ; 398-409 ; 29 April 2011
    Nemaline myopathy: changes in cross-bridge cycling underlie muscle weakness in patients with TMP3 mutations
    Read the PubMed abstract
    To read more about "Nemaline myopathy"

    Hum Mol Genet ; 2015-2025 ; 15 May 2011
    Juvenile neuronal ceroid lipofuscinosis: lack of CLN3 function appears to lead to a failure to manage the response to oxidative
    Read the PubMed abstract
    To read more about "Juvenile neuronal ceroid lipofuscinosis"

    Hum Mol Genet ; 2037-2047 ; 15 May 2011
    Late-onset retinal degeneration: a CTRP5 gene S163R mutation knock-in mouse model

    Read the PubMed abstract

    To read more about "Late-onset retinal degeneration"

    Hum Mol Genet ; 2000-2014 ; 15 May 2011
    Anaplastic thyroid carcinoma: TWIST1 plays a pleiotropic role in determining malignant features of the phenotype in vitro
    Read the PubMed abstract
    To read more about "Anaplastic thyroid carcinoma"

    J Clin Endocrinol Metab ; E772-E781 ; May 2011
    Clinical Research
    Inherited cardiomyopathies: a review of mechanisms to inform clinical practice and guide the search for therapeutic targets
    Read the PubMed abstract
    To read more about "Familial isolated hypertrophic cardiomyopathy"
    To read more about "Familial isolated dilated cardiomyopathy"
    To read more about "Arrhythmogenic right ventricular dysplasia"

    N Engl J Med ; 1643-1656 ; 28 April 2011
    Familial or sporadic hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management
    Read the PubMed abstract
    To read more about "Familial or sporadic hemiplegic migraine"

    Lancet Neurol ; 457-470 ; May 2011
    Ciliopathies: a review considering the role of the cilium in these diseases
    Read the PubMed abstract
    N Engl J Med ; 1533-1543 ; 21 April 2011
    Idiopathic juvenile-onset systemic arthritis: safety and efficacy of an oral histone deacetylase inhibitor
    Read the PubMed abstract
    To read more about "Idiopathic juvenile-onset systemic arthritis"

    Arthritis Rheum ; 1452-1458 ; May 2011
    Periodic fever syndrome: identification and functional consequences of a recurrent NLRP12 missense mutation
    Read the PubMed abstract
    To read more about "NALP12-associated hereditary periodic fever syndrome"

    Arthritis Rheum ; 1459-1464 ; May 2011
    Rare structural congenital myopathies: 169th ENMC International Workshop
    Read the full text
    Neuromuscul Disord ; 363-374 ; May 2011
    CRLF1-associated disorders: differential secretion of the mutated protein is a major component affecting phenotypic severity
    Read the PubMed abstract
    To read more about "Crisponi syndrome"
    To read more about "Cold-induced sweating syndrome"

    Eur J Hum Genet ; 525-533 ; May 2011
    Bohring-Opitz syndrome (C-like syndrome): clinical study, review of the literature, and discussion of possible pathogenesis
    Read the PubMed abstract
    To read more about "C-like syndrome"

    Eur J Hum Genet ; 513-519 ; May 2011
    Primary sclerosing cholangitis: a systematic review and meta-analysis of incidence
    Read the PubMed abstract
    To read more about "Primary sclerosing cholangitis"

    Hepatology ; 1590-1599 ; May 2011
    Huntington disease: HTT haplotypes contribute to differences in prevalence between Europe and East Asia
    Read the PubMed abstract
    To read more about "Huntington disease"

    Eur J Hum Genet ; 561-566 ; May 2011
    Distal monosomy 1p36: a new presentation with severe lysosomal storage disease of liver
    Read the PubMed abstract
    To read more about "Monosomy 1p36"

    Eur J Med Genet ; 209-213 ; May-June 2011
    Gene Therapy
    Multiple sulfatase deficiency: efficacy of a combined intracerebral and systemic gene delivery approach
    The authors used a mouse model of multiple sulfatase deficiency (SUMF1 knockout mice). Preliminary results indicated that injection of a recombinant adeno-associated virus serotype 9 (rAAV9) vector into the cerebral ventricles of neonatal mice resulted in efficient and widespread transduction of the brain parenchyma. The authors then tested combined, intracerebral ventricles and systemic, administration of an rAAV9 vector encoding SUMF1 gene. This resulted in the global activation of sulfatases, near-complete clearance of glycosaminoglycans and decrease of inflammation in both the central nervous system and visceral organs. Furthermore, behavioural abilities were improved.
    Read the PubMed abstract

    To read more about "Mucosulfatidosis"

    Mol Ther ; 860-869 ; May 2011
    Therapeutic Approaches
    Systemic sclerosis: LPA1 as an attractive pharmacologic target to prevent dermal fibrosis in a mouse model
    The authors recently implicated lysophosphatidic acid (LPA) in the pathogenesis of pulmonary fibrosis; LPA1 and LPA2 are two receptors of LPA. In this novel paper, the authors subcutaneously injected wild type and LPA receptor-knockout mice with bleomycin. LPA signaling through LPA1, but not LPA2, was shown critical for the development of bleomycin-induced dermal fibrosis and for both myofibroblast accumulation and TGF-beta/Smad signaling. Pharmacologic antagonism of LPA1 with AM095 (a novel selective LPA1 antagonist) significantly attenuated bleomycin-induced dermal fibrosis when administered according to either a preventive regimen or therapeutic regimens.
    Read the PubMed abstract

    To read more about "Systemic sclerosis"

    Arthritis Rheum ; 1405-1415 ; May 2011
    Systemic sclerosis: positive effects of dabigatran etexilate in a murine model of interstitial lung disease
    Inhibition of thrombin using the oral direct thrombin inhibitor dabigatran etexilate had marked antiinflammatory and antifibrotic effects in a mouse bleomycin model of pulmonary fibrosis. This study provides preclinical information about the feasibility and efficacy of dabigatran etexilate as a new therapeutic approach for the treatment of interstitial lung disease.
    Read the PubMed abstract

    To read more about "Systemic sclerosis"

    Arthritis Rheum ; 1416-1425 ; May 2011
    Alpha-1 antitrypsin deficiency: wild-type hepatocyte transplantation may be therapeutic for AAT-Z liver disease
    The authors investigated whether transplanted hepatocytes expressing wild-type α1-antitrypsin protein (AAT) might have a competitive advantage relative to mutant AAT (AAT-Z)-expressing hepatocytes, using transgenic mice expressing human AAT-Z. Spontaneous hepatic repopulation with engrafted hepatocytes occurred in the AAT-Z-expressing mice even in the absence of severe liver injury.
    Read the PubMed abstract

    To read more about "Alpha-1 antitrypsin deficiency"

    J Clin Invest ; 1930-1934 ; 2 May 2011
    Ornithine transcarbamylase deficiency: a hyperammonaemic mouse model to develop gene therapy
    Mouse models of ornithine transcarbamylase (OTC) deficiency are inherently limited by the neurotoxicity of ammonia, and limitation of the spfash model is the presence of residual OTC enzymatic activity. The authors developed a model system in which the mild OTC-deficient phenotype of spfash mice is converted to a severe hyperammonaemic phenotype by shRNA-mediated knockdown of residual endogenous OTC mRNA. Using this system, they showed that the dose of an adeno-associated virus (AAV) rescue construct encoding the murine OTC cDNA required to prevent hyperammonaemia is fivefold lower than that required to control orotic aciduria.
    Read the PubMed abstract

    To read more about "Ornithine carbamoyltransferase deficiency"

    Mol Ther ; 854-859 ; May 2011
    Diagnostic Approaches

    Autosomal recessive limb-girdle muscular dystrophy: SNP-array based whole genome homozygosity mapping for diagnosis
    The authors used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in patients from consanguineous families with limb girdle muscular dystrophy (LGMD). For two siblings, homozygous blocks on chromosome 15 corresponding to the LGMD2A locus were found, and direct sequencing of CAPN3 identified a homozygous deletion. In a sporadic LGMD patient, homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP detected a common homozygous mutation. Furthermore, in this patient who had a complete absence of caveolin-3 but no mutation in CAV3, subsequent re-examination of muscle biopsy showed aberrant α-dystroglycan glycosylation, which showed that FKRP mutations may also cause secondary caveolin-3 deficiency.
    Read the PubMed abstract

    To read more about "Autosomal recessive limb-girdle muscular dystrophy"

    Eur J Med Genet ; 214-219 ; May-June 2011

    Patient Management and Therapy

    Systemic sclerosis: concepts of functioning and health important to patients in four European countries
    The authors conducted a multicentre study with focus-group interviews in four European countries (Austria, Romania, Sweden, and Switzerland) to describe the everyday functioning and quality of life of people with systemic sclerosis (SSc) and to link these experiences to the WHO International Classification of Functioning, Disability and Health (ICF). Among 86 identified concepts, most were linked to the ICF components body functions and structures (37%), activities and participation (24%), and environmental factors (30%). 19 concepts were reported in all four countries and included impaired hand function, difficulties with household activities and paid work (activities and participation). Among environmental factors impacting the functioning, climate and coldness were identified as barriers, non-pharmacological treatments, support from others, social security and benefits as facilitators, drugs and experiences with healthcare institutions as both. These concepts could be used for guiding clinical assessment, as well as interdisciplinary team care and rheumatological rehabilitation for patients with SSc. However, people with SSc from multiple countries should be involved in further studies.
    Read the PubMed abstract

    To read more about "Systemic sclerosis"

    Ann Rheum Dis ; 1074-1079 ; June 2011
    Diffuse cutaneous systemic sclerosis: long-term experience of mycophenolate mofetil
    The authors studied a cohort treated with mycophenolate mofetil (MMF) for active diffuse cutaneous scleroderma. They compared the change in mean modified Rodnan skin scores (mRSS) in the cohort at baseline with scores at 3, 6, 9 and 12 months and with those of historical controls from a pooled analysis of three multicentre randomised clinical trials of drugs which had shown no treatment response. Improvement in mRSS after treatment with MMF compared with baseline was seen as early as 3 months and continued through the 12-month follow-up. The mRSS of the MMF cohort was not different from that of the historical controls at 6 months, but was significantly lower at 12 months. General and muscle severity scores and quality of life measures also improved compared with baseline. Pulmonary function remained stable.
    Read the PubMed abstract

    To read more about "Diffuse cutaneous systemic sclerosis"

    Ann Rheum Dis ; 1104-1107 ; June 2011
    Lymphangioleiomyomatosis: sirolimus appears to improve pulmonary symptoms
    The authors conducted a two-stage trial of sirolimus involving 89 patients with LAM who had moderate lung impairment: a 12-month randomized, double-blind comparison of sirolimus with placebo, followed by a 12-month observation period. Adverse events were more common with sirolimus, but the frequency of serious adverse events did not differ significantly between the groups. Sirolimus stabilized lung function, reduced serum VEGF-D levels, and was associated with a reduction in symptoms and improvement in quality of life.
    Read the PubMed abstract

    To read more about "Lymphangioleiomyomatosis"

    N Engl J Med ; 1595-1606 ; 28 April 2011
    Immune thrombocytopenic purpura: the American Society of Hematology 2011 evidence-based practice guideline
    This guideline updates the 1996 American Society of Hematology (ASH) guidance for the management of both adult and paediatric immune thrombocytopenia (ITP). ASH considered all available methodologically rigorous data informing the treatment of ITP to provide evidence-based treatment recommendations in those areas in which such evidence exists. The review identified the need for additional studies in many key areas of the therapy of ITP.
    Read the PubMed abstract

    To read more about "Immune thrombocytopenic purpura"

    Blood ; 4190-4207 ; 21 April 2011
    Chronic thromboembolic pulmonary hypertension: a scientific statement from the American Heart Association
    The American Heart Association (AHA) published a Scientific statement concerning chronic thromboembolic pulmonary hypertension (CTEPH). This statement presents a review on the disease and recommendations for diagnostic evaluation and for medical therapy and pulmonary endarterectomy in patients with CTEPH.
    Read the PubMed abstract

    To read more about "Chronic thromboembolic pulmonary hypertension"

    Circulation ; 1788-1830 ; 26 April 2011
    Acromegaly: a meta-analysis on cabergoline effects
    The authors performed a meta-analysis on cabergoline for acromegaly, both alone and in combination with somatostatin analogs. The study suggests that cabergoline single-agent therapy normalizes IGF-I (insulin-like growth factor-I) levels in one third of patients with acromegaly. When a somatostatin analog fails to control acromegaly, cabergoline adjunction normalizes IGF-I in about 50% of cases. This effect may occur even in patients with normoprolactinaemia.
    Read the PubMed abstract

    To read more about "Acromegaly"

    J Clin Endocrinol Metab ; 1327-1335 ; May 2011
    Three new Clinical Utility Gene Cards available
    EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has now published three new Clinical Utility Gene Cards for:
    Alpha-1-antitrypsin deficiency
    Blackfan-Diamond anemia
    von Willebrand disease


    Orphan Drugs
    FDA approves sunitinib for rare pancreatic cancer
    In the USA, the Food and Drug Administration approved Pfizer's Sutent (sunitinib) to treat patients with progressive neuroendocrine cancerous tumours located in the pancreas that cannot be removed by surgery or that have spread to other parts of the body. This is the second new approval by the FDA to treat this disease; on 5 May, the agency approved Afinitor (everolimus) for the same indication.



    GSK launches competition on the topic Rare Diseases: a Sustainable Model for the Pharmaceutical Industry
    GSK Rare Diseases was set up in 2010 as a dedicated unit to discover, develop and ultimately deliver new and innovative medicines to treat rare diseases, aiming to create a sustainable pipeline and a portfolio of medicines that deliver real value to patients living with often devastating and life-threatening rare diseases. Recent scientific advances, particularly in the field of genetics, has allowed scientists to pinpoint the cause of many rare diseases, making it possible to identify those which could benefit from therapeutic intervention and what mechanisms or approaches have the highest probability of success. However, advancing these innovative medicines will require large investments in research and development. The small numbers of people affected by individual rare diseases make it challenging to recoup this R&D investment. In addition, healthcare systems in many countries are already facing funding challenges. This all contributes to an ongoing debate about the sustainability of R&D and access models for treatments for rare diseases.

    To further understanding of how the pharmaceutical industry can develop and deliver medicines of value for rare diseases, GSK is inviting schools of public health, business schools, students, scholars, health outcome/economics specialists and individuals with an interest, to submit their views and insights on the subject. GSK is opening an international competition inviting external views and strategic perspectives on the following theme: Rare Diseases: a sustainable model for the pharmaceutical industry

    Submissions should take the form of a written report (a maximum 15 pages) and be submitted via the following webpage. Submissions will be selected and assessed by an independent review committee. The last date for submission is 30 September 2011 and from this date, ten research reports will be shortlisted by the independent review committee, by the end of October. Three finalists identified by mid-November will be invited to an oral presentation in London to discuss their strategic recommendations to identify the ultimate winner. The final 10 reports will be published on the website for GSK Rare Diseases in January and a regressive financial reward scheme is planned for these 10 reports. For all information on this initiative, please contact Pierrick Rollet at GSK Rare Diseases.

    Swiss rare disease grant programme launches third call for projects
    A Swiss grant programme specifically for rare diseases has announced its third call for projects. Independent foundation Gebert Rüf Stiftung commits CHF2 million (€1.3 million) per year to researchers based at Swiss universities, university hospitals, federal institutes of technology and universities of applied sciences. The Rare Diseases – New Approaches grant programme, which launched in 2009, is established as a five-year area of activity. The initiative aims at developing and implementing innovative technologies or approaches in the diagnosis and treatment of Rare Diseases. The knowledge gained should lead to a better understanding of the genetic, molecular and biochemical processes underlying these diseases and pave the way towards new forms of treatment or diagnostics. A further aim is to improve the transfer of basic research findings into clinical practice. The focus must be on innovation, feasibility and effectiveness, while attaining high scientific and technological standards. The application deadline for the third call is 29 July 2011.
    For more information


    Courses & Educational Initiatives

    Mental Retardation: From Clinic to Gene and Back
    Held from 4-8 July 2011 in Braga, Portugal, this course offers a structured review and update on the genetic basis of intellectual deficit, including discussion of the three main groups of genetic causes of intellectual deficit: malformation syndromes, predominantly neuromuscular disorders and metabolic diseases.
    For further details

    Goldrain Courses in Clinical Cytogenetics and in Prenatal Genetic Diagnosis
    The upcoming Goldrain Clinical Cytogenetics course, from 28 August to 3 September 2011 at the Goldrain Castle in South Tyrol (Italy), focuses on phenotypic findings, mechanisms of origin and transmission and correlations of clinical patterns with the chromosomal imbalance. Special attention is paid to an understanding how deletions and/or duplications of chromosomal segments cause developmental defects. The course also addresses the optimal application of the diagnostic possibilities including molecular cytogenetic methods for a precise determination of segmental aneuploidy.
    The Prenatal Genetic Diagnosis course, taking place from 15 to 21 October 2011 also at the Goldrain Castle, 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. TOPICS include Techniques: Amniocentesis and amniocyte examination, chorionic villus sampling and examination, cordocentesis and fetal blood examination, pre-implantation genetic diagnosis, prenatal diagnosis from fetal DNA and cells in maternal blood, QF-PCR and MLPA, DNA-arrays, aneuploidy screening and PGD, QF-PCR as a stand-alone test. Obstetric issues: Obstetric indications for PD, prenatal dysmorphology and assessment of congenital developmental defects, PD in twins and selective fetocide, the fetal heart as a window to detect genetic problems, risk assessment for chromosomal anomalies following non-invasive prenatal testing, prenatal ultrasonic diagnosis: routine screening approach; specific examinations; fetal therapy; prenatal magnetic resonance examination. Genetic issues: genetic counseling in the context of potential prenatal diagnosis, genetic indications for PD, estimation and calculation of recurrence risks, techniques and their indications: conventional cytogenetics; molecular cytogenetics; mutation analysis; biochemical diagnosis; questionable results; mosaicism and chimaerism. Ethical considerations.
    For further details

    4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
    The University of Rostock is organising the 4th International Postgraduate Course on Lysosomal storage disorders: diagnostic background and clinical therapy to take place in Berlin, Germany from 14-15 November 2011. Scientific excellence in talks will be connected with presentations and discussion of real clinical cases embedded into a communicative and inspiring atmosphere.
    For further details

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

    Orphan Academy 2011 programme
    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details


    What's on Where?

    9th International Prenatal Screening Group Congress
    Date: 19-21 June 2011
    Venue: Barcelona, Spain

    This congress brings together laboratory providers, researchers, maternal foetal medicine specialists, geneticists and others interested in the provision of prenatal screening. The meeting will expand on the past meetings of the International Down Syndrome Screening Group through the inclusion of screening for disorders with a Mendelian pattern of inheritance and other single gene disorders, identification through maternal serum biochemical markers, foetal nucleic acids in maternal circulation and ultrasound, early detection of pregnancy complications and other conditions.
    For further details

    Eighth European Cytogenetics Conference
    Date: 2-5 July 2011
    Venue: Porto, Portugal

    This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other.
    For further details

    9th East European Scientific-Training Conference: Rare Diseases - Diagnosis, Treatment and Patent Care
    Date: 15-17 July 2011
    Venue: Cedzyna, Poland

    Outstanding scientists in the field of mucopolysaccharidosis and other rare diseases, health professionals treating with enzyme replacement therapies, leaders of patient organisations in the country and abroad and representatives of government will participate in this event.
    For further details and to register

    VI Cornelia de Lange Syndrome World Conference
    Date: 27-31 July 2011
    Venue: Copenhagen, Denmark

    Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
    For further details

    Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
    Date: 30 August – 02 September 2011
    Venue: Geneva, Switzerland

    The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
    For further details

    European Conference on Post Polio Syndrome
    Date: 31 August – 02 September 2011
    Venue: Copenhagen, Denmark

    This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
    For further details

    15th International Workshop on Fragile X and Early-Onset Cognitive Disorders
    Date: 4-7 September 2011
    Venue: Berlin, Germany

    Topics include: Everything you always wanted to know about Fra(X); Novel causes of X-linked intellectual disability (XLID); Autosomal dominant and recessive forms of ID; ID syndromes: clinical, neurological and neuro-anatomical findings; Functional studies, animal models, emerging pathways; Population-specific and epidemiological aspects; Diagnosis, carrier detection and therapy; Molecular links between cognitive and behavioural disorders; Genetic determinants of intelligence, and much more.
    For further details

    3rd International Symposium on Pheochromocytoma and Paraganglioma
    Date: 14-17 September 2011
    Venue: Paris, France

    An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside.
    For further details

    18th Pediatric Rheumatology European Society Congress (PRES2011)
    Date: 14-18 September 2011
    Venue: Bruges, Belgium

    Offering a venue for continued education, the sharing of new research developments, and fostering academic collaboration, for clinicians, trainees, scientists and allied health professionals in the field of paediatric rheumatology. The scope of PRES2011 includes genetics, etiopathogenesis, clinical innovations and recent advances in treatment covering a wide spectrum of both common and rare rheumatic diseases in children.
    For further details

    5th International Conference on Birth Defects and Disabilities in the Developing World
    Date: 24-27 September 2011
    Venue: Lodz, Poland

    The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
    For further details

    Pharmaceutical Pricing and Reimbursement Information Conference 2011
    Date: 29-30 September 2011
    Venue: Vienna, Austria

    The WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies in Vienna invites participants to discuss pharmaceutical policies and their practical implementation in the light of current challenges such as the economic crisis with high ranking experts and policy makers. The main topics of the conference are pricing and reimbursement of medicines in the in- and out-patient sector, interface management and the rational use of medicines from a comprehensive, international and European perspective. Orphan Drugs will be subject to several discussions.
    For further details

    12th International Congress of Human Genetics
    Date: 11-15 October 2011
    Venue: Montreal, Canada

    The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
    For further details

    Tuberous Sclerosis Complex Scientific Day
    Date: 14 October 2011
    Venue: Paris, France

    This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
    For further details

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

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

    Rare 2011: The Eurobiomed Meetings on Rare Diseases
    Date: 2-4 November 2011
    Venue: Montpelier, France

    This French-language event features an English-language “European Day” co-hosted by Eurobiomed and the European Union Committee of Experts on Rare Diseases (EUCERD) that will explore shared data to improve healthcare management for rare diseases.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details

    Sanfilippo Foundation Switzerland International Congress
    Date: 8-10 December 2011
    Venue: Geneva, Switzerland

    “Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
    For further details

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

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

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details

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

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


    Press & Publications

    Special issue of Epilepsia focuses on Dravet syndrome – including the impact of patient groups and internet tools
    An article appearing in a special supplement issue of the journal Epilepsia devoted to Dravet syndrome, a refractory epileptic encephalopathy typically affecting infants in the first year of life, takes the International Dravet syndrome Epilepsy Action League (IDEA League) as an example to demonstrate how advancements in informatics technology - including the internet and the various social networking platforms that have cropped up in recent years - have a “profound impact” on many rare disease activities – not only patient exchange and awareness raising, but also information, education, research, diagnostics, treatment, policy making and legislation. Via the internet and related tools, the IDEA League, the leading patient advocacy organisation for Dravet syndrome and related genetic ion-channel epilepsy disorders, like many rare disease patient advocacy groups, can “disseminate information to large populations within both lay and professional communities without the expense of producing and mailing printed materials”. The special supplement issue of Epilepsia also has articles dedicated to the genetics, phenotype, natural history, diagnosis and treatment of Dravet syndrome.
    Consult the PubMed abstract of the Idea League article
    Consult the table of contents of the Epilepsia supplement

    What bioinformatics can do for rare genetic disease research and care
    In a Human Variome Project special issue of the journal Human Mutation entitled Bioinformatics for Human Genetics, amongst the interesting articles relevant to the field of rare diseases – of which an overwhelming majority are genetic in origin - is an open-access text entitled Bioinformatics for Human Genetics: Promises and Challenges which provides an overview of the contents of the special issue. Anybody who has been daunted by the complex relationship between bioinformatics and human genetics will find an elegant exposition that neatly sets out the “hot” computational developments and demonstrates how they can contribute to furthering both genetic research and clinical services. Next-generation sequencing, bio-ontologies, the Semantic Web, growing hospital information technology systems and electronic health records are spawning masses of information that is becoming difficult for researchers to organise and interpret. However, cutting edge bioinformatics tools can aid both clinicians and scientists to “… analyze these data more efficiently and accurately, with the end result being improved clinical care and research". The authors identify challenges in combining informatics with biomedicine and finish with an assessment of what is required to move forward: “… a healthcare system with electronic health records with systematic coding of clinical/phenotypic as well as genetic/genomic data” which needs “… an ontology for common clinical parameters and lab data, including genetic/genomic data for the individual and related tissues”.
    Consult the open access article: Bioinformatics for Human Genetics: Promises and Challenges
    Consult the table of contents of the special Human Mutation issue on Bioinformatics for Human Genetics

    Diagnostic guidelines for newborns who screen positive in newborn testing
    In the USA, much needed guidelines have been developed for confirming diagnosis following a positive response received during routine newborn screening. The USA has expanded its newborn screening panel to include over two dozen analytes, and amongst the challenges this expansion engenders is a lack of clinical knowledge and experience with certain very rare disorders, along with highly variable clinical features of some conditions. An article appearing in a special supplement issue of Genetics in Medicine dedicated to newborn screening outlines the guidelines that address these issues by presenting specific diagnostic criteria for each disease. Described as “a work in progress” the guidelines will be revised in response to improvements in knowledge. The working group of the New York Mid-Atlantic Consortium for Genetic and Newborn Screening Services developing the guidelines is also planning a project around the availability of the testing recommended in the guidelines. Factors largely involving cost and insurance coverage in the USA mean that some newborns testing positive in routine screening will not be able to obtain the follow-up interventions that would confirm diagnosis. Critics of expanded newborn screening programmes also decry the fact that treatment is also not available for certain conditions and that a positive screen at birth does not always mean that an affected infant will go on to develop the condition.
    Consult the abstract of the Diagnostic Guidelines article
    Consult the table of contents of the Genetics in Medicine supplement


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

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
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