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Editorial
 
Parliament and the European Social & Economic Committee issue opinions on the Council rare disease proposal
 


Both the European Parliament and the European Social and Economic Committee have issued opinions on the Proposal for a Council Recommendation on a European action in the field of rare diseases overwhelmingly supporting the contents of the crucial document that outlines a strategy for organising rare disease research and treatment on both the national and European levels.

The European Social and Economic Committee (ESEC) was the first to weigh in favourably. Formed under the 1957 Rome Treaties to “provide institutional machinery for briefing the European Commission and the Council of Ministers on European Union issues,” the ESEC is a consultative body that issues opinions “forwarded to the larger institutions - the Council, the Commission and the European Parliament”. At the request of the European Council, the ESEC agreed to consult the Proposal for a Council Recommendation on Rare Diseases that delineates a strategy supporting European Member States in diagnosing, treating and caring for citizens with rare diseases. At its 451st plenary session held on 25-26 February 2009, the ESEC adopted an opinion on the Recommendation by 162 votes to 4 (8 abstentions). The opinion, publicly available for consultation, is generously peppered with words such as “supports” "endorses” “agrees with” “welcomes” and “recommends”, reflecting the general support for the overall contents of the Recommendation. However, the ESEC opinion queries the dates furnished in the Recommendation, particularly 2011 for the preparation of national plans, suggesting that more time will likely be needed for detailed plans to be formulated.

The European Parliament also welcomed the Council Recommendation, deeming it “absolutely necessary”. At the same time the Parliament opinion categorises the proposal “insufficient” in its current state because “it does not describe … the necessary funding from EU and the co-funding by EU and Member States or other organisations”. The opinion, issued by the European Parliament’s Environment, Public Health and Food Safety Committee, puts forward some 34 amendments designed to clarify and further specify the contents. Amendment 8 integrates the guidelines adopted in the Pharmaceutical Forum final report geared to enable Member States and the Commission to improve and accelerate access to orphan medicinal products. The Parliament opinion, in contrast to the ESEC opinion, amends the text to compel Member States to "elaborate and adopt a comprehensive and integrated strategy by the end of 2010 (Amendment 11). Parliament recommends that the implementation proposal is provided by the end of 2012 at the latest and that “specific mention should be made for funding…” (Amendment 12) for activities including the “collection of epidemiological data, the creation of expert centres in Member States which lack such centres, the creation of special training courses in the existing centres, the mobilisation of experts and professionals in order to create the necessary conditions for advancing existing knowledge, and research on diagnostic tools and tests on rare diseases and especially on genetic ones”. Amendment 18 addresses resources for treatment. This should be sourced at the national level (rather than being the responsibility of hospitals and other health centres). Securing long-term, sustainable funding is another provision evoked by the Parliament. Other Parliament amendments extend areas of the proposal to include partnering with non-European developing and developed countries.



The Parliament opinion considers the Council Recommendation a “roadmap” that can create helpful conditions in the field of rare diseases, but that to be efficiently and successfully applied, the Proposal needs to be "more precise and definite in the calendar (years) of implementation”. The Parliament’s Committee on Industry, Research and Energy also consulted the Proposal and put forth 13 additional amendments that echo the he Environment, Public Health and Food Safety Committee’s amendments on funding, third country partnership and streamlining Member State access to medicinal products.

The meeting of the Council of Ministers for adoption of the Proposal for a Council Recommendation for a European Action in the Field of Rare Diseases is scheduled for 9 June 2009.
Consult the Opinion of the European Economic and Social Committee
Consult the Opinion of the European Parliament
 


 
National & International Policy Developments
 
A rare disease registry framework makes its debut in the Netherlands
 
In the Netherlands, the Dutch Orphan Disease Registry Consortium has been developed in order to create a system to capture information on rare diseases that will contribute to optimising patient care and furthering drug development. Inborn errors of metabolism are the first group of diseases to be targeted by the registry consortium. In 2007, the Netherlands extended its newborn screening programme to include 14 of these diseases including galactosaemia and maple syrup urine disease. The Dutch Orphan Disease Registry Consortium will optimise the expertise of various partners, in order to develop guidelines for improving treatment and management. Project research coordinator Sonja van Weely of the Dutch Steering Committee Orphan Drugs commented in a news article that "…in depth knowledge of rare diseases is essential for the development of novel therapeutic drugs. This project creates a web-based registry framework in which essential information, such as the incidence of the disease and outcomes of treatment, is brought together. This registry will improve our knowledge of these diseases, enabling us to reduce the ‘time and cost-to-patient’ by facilitating the development of new orphan drugs and as such contributes to the wellbeing of society and patients with rare diseases in particular." The project has a €1.5 million budget for a three-year period. Various partners are co-financing the project. Data gleaned from the initial phase of the registry will contribute to the development of a sustainable plan “of national and international implementation to other rare diseases.” The Consortium is exploiting the resources of TI Pharma, a collaborative framework consisting of industrial and academic research teams, to establish the registry framework.
 
Discussions for a national plan for rare diseases in the UK get off to a promising start
 
Following the European Commission’s Communication last November defining a strategy for EU countries to create and adopt their own plan for rare diseases, a Parliamentary dinner-debate was held in the United Kingdom in mid-February, gathering a range of experts in order to discuss a national rare disease plan for the UK. Co-hosted by Dr. Ian Gibson, a Member of Parliament from the House of Commons, and Genzyme Therapeutics UK & Ireland, the event was attended by patient representatives, clinical experts, members of industry, and Parliamentarians. Key themes included variations in access to quality service; ensuring “a complete package” of care – from diagnosis to treatment; increasing communication between experts and between countries; and the need for a mechanism that ensures sustainability. In the UK, as elsewhere, scarce expertise leads to a “patchy” provision of services. The lack of a national structure engenders late, missed, or incorrect diagnoses – often with severe health consequences. Many rare diseases fall outside the National Commissioning Group’s prevalence threshold, and thus are lost between the two main health bodies (the NCG and NICE). This means that patients must lobby for their treatment. Although some groups have been successful in obtaining the medicinal products they seek, it was agreed that rare disease patients should not have to resort to this practice. National centres of excellence were brought forward as a strategic means to reduce variations in care by grouping together expertise for particular disorders. However, the point was made that such centres would not diminish the need for improved knowledge and communication at the local level. The UK plan would ideally ensure a “complete treatment pathway” in addition to ascertaining that drugs are approved and available. Home nursing and resources for travel were cited as examples of care that many patients need in addition to medicines. Sharing knowledge and improving communication on all levels would need to be addressed in the plan. Finally, ensuring sustainability arose as a factor to be built into a national plan. With funding often dispensed on a short-term basis, the means are needed to make rare disease support “a permanent feature” of the UK healthcare system. The evening was viewed as a promising starting point, and a scheduled steering group meeting of the Rare Disease UK alliance and the Genetic Interest Group is expected to continue the momentum to develop a national plan.
 
Switzerland forms national patient alliance for rare diseases
 
In late March, representatives from some 38 German- and French-speaking patient organisations gathered together at the University Hospital of Geneva to forge a plan for establishing a national patient alliance for rare diseases. Organised by Orphanet Switzerland in tandem with the association Enfance et Maladies Orphelines, participants considered the structure and experiences of the national rare disease alliances of Germany and France. While Switzerland recognises human genetics as a specialised branch of medicine, and care for rare disorders is available in five university hospitals, the country has no designated specialised centres for rare diseases and its insurance policy does not cover many costs linked to rare disease care, such as travel, technical equipment, and care obtained outside of the country. There is no help line available for rare disorders and the only funds specifically earmarked for rare disease and orphan drug research are the monies collected via the Swiss Telethon. With a system of governance diffused over 26 independent cantons, each responsible for its own health, welfare, law, and education, and four official languages, organising a centralised project such as a patient alliance in Switzerland is not without its challenges. Despite this, participants recognised the need for a united front in order to obtain resources for rare diseases, and voted virtually unanimously in favour of creating a national alliance. The first topics the alliance is reported to address encompass national level health issues such as health insurance, genetic testing, and orphan medicinal products. A working group has already been formed to work on a charter, by-laws, and a strategy for the alliance.
 
Other European news
 
A small country reflects on its experiences caring for rare disease patients
 
“In a country like Croatia (population of 4.5 million), most physicians do not see a single patient with a rare disease during their entire career.” Thus begins a freely-accessible article recently published in the Croatian Medical Journal. Rare Diseases in Croatia – Lesson[s] Learned from Anderson-Fabry Disease offers a glimpse of the rare disease scenario in the country: In Croatia, rare diseases are frequently undiagnosed and when diagnosed they are not given special treatment and attention. The awareness of rare diseases remains low among Croatian physicians and health care system organisations. The need for creating an infrastructure that would enable early access to existing treatment by establishing a special fund for expensive therapies has only recently been recognised. A special budget was established on the principle that the society cannot accept discrimination and to counter the fact that certain individuals are denied the benefits of medical progress because the illness they have is rare or costly. The main goal of this fund is to ensure equal access to treatment for all such patients.

The author uses Anderson-Fabry disease to illustrate the management of a rare disease in Croatia. While some patients must see several experts before receiving a correct diagnosis, identification is improving in Croatia and treatment is possible via the “Expensive Drug Fund” of the Croatian Institute for Health Insurance, which also pays for the treatment of other rare diseases, including Gaucher disease and mucopolysaccharidosis. Croatia has formed a coalition: the Croatian Society of Patients with Rare Diseases. This mixture of patient associations and NGOs is expanding as more individual groups join forces to improve the quality of life of rare disease patients and their families. Amongst recent achievements is the launch of a rare disease website and a first meeting on rare diseases gathering patients, families, physicians, NGO representatives and government officials to discuss essential issues. “Give me a hand", a series of public activities, was organised to raise public awareness. With preliminary steps being taken toward building “a health care infrastructure for rare diseases,” Croatia is tentatively demonstrating that a small country can also make a big difference in the lives of patients.
Read the free-access article

 
Other International News
 
Geiser Foundation hosts a different kind of summit meeting for rare diseases
 

Aconcagua, the highest peak in the Americas and in the southern hemisphere was the recent destination targeted by Latin America’s rare disease alliance, the Geiser Foundation. On 14 March, Geiser placed rare diseases on top of the world when Dr. Emilio Roldán and Mr. Gerardo Castillo exhibited the t-shirt from the first Rare Disease Day at the summit of Aconcagua, located in the Andes mountain range. Rare diseases were given this exalted status as a symbolic gesture representing the will of rare disease patients and their entourage to surmount any obstacle in the search for equal access to a improved quality of life for all rare disease patients.

 


 
Ethical, Legal & Social Issues
 
Public consultation open for draft report on the impact of gene patents on patient access to testing
 
In the USA, the Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) has issued a document entitled, Public Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests. As the title implies, public comment is sought on this draft that includes policy options as a “framework within which to gather public input and present a broad range of possible actions” in relation to gene patents. Within the document is a consideration of genetic testing for rare disorders (some of which are only available through research). The paper includes ten case studies, amongst which is the licensing mechanism for the most common cystic fibrosis gene mutation test. Cited as a “demonstration of how patents can be licensed in a manner that avoids many of the controversies associated with sole-source provider models”, the draft admits that it might not be readily applied to other, more rare, conditions. The complex case of genetic testing patenting for variants of spinocerebellar ataxia (SCA) is described in detail. With certain institutions discontinuing testing, considering the sublicense terms of the patent holder to be “unreasonable and not economically viable”, this provides an example of genetic testing “for which the intellectual property rights to the most common variants have been aggregated by a commercial laboratory that serves as the sole provider of testing services”. As the study points out, this has both positive and negative elements. The public consultation also considers the cases of gene patents for Tay-Sachs, Canavan, and Long-QT diseases. The document discusses findings on six key issues:

  • Whether the prospect of a patent encouraged researchers to search for gene-disease associations that could be developed into a genetic test.
  • The role patents play in the development or commercialization of a genetic test based on a discovered gene-disease association.
  • The effect of patent(s) and licensing practices on the price of a genetic test.
  • The effect of patent(s) and licensing practices on the availability of a genetic test.
  • How patent(s) on a genetic test and the related licensing practices affected the ability of others to innovate on the test.
  • The prospect that a patent or licensing practice may cause a particular harm to genetic testing in the future.
  • Consult the draft report

     
    Give them a break! Parents of children with special health needs rank respite care as one of the most needed services
     
    An article appearing in the Archives of Pediatrics & Adolescent Medicine reports that respite for caregivers of children with special health-care needs is hard to come by. The study identifies factors associated with unmet respite care. Ironically, families of children with severe functional limitations – whether physical, cognitive, emotional and/or behavioural - have the greatest unmet respite care needs despite studies that demonstrate that respite care “improves well-being of parents/caregivers”. Respite care is defined as “having someone care for the child so that the caregiver could do other things”. According to the author, families most often assume the role of providers of long-term care for children with disabilities. Although this study focuses on health resources and policies specific to the USA, the information presented concerning respite for parents of children with special health needs is of relevance and interest to all countries striving to identify and develop services for their rare disease patients and care givers. Indeed, a majority of rare diseases affecting children are characterised by chronic physical, developmental, behaviourial and/or emotional manifestations that require special health care needs.
    Consult the PubMed Abstract

     
    He ain’t heavy….. Considering the sibling of the chronically ill child
     
    An article in the Journal of Pediatrics reflects upon the experience of the siblings of seriously ill children. Candles in the Snow: Ritual and Memory for Siblings of Infants Who Died in the Intensive Care Nursery presents a qualitative study of the effects the death of a newborn have on the remaining siblings. The results, often poignant, offer insight into how the medical profession can aid parents to manage the experience of death within the family. Siblings who were allowed to view, touch, and interact with their terminally ill kindred report a better outcome later in terms of psychological adjustment. Communication is also considered key to facilitating the events for siblings in a healthy manner. Families who treat the death secretively risk producing feelings of guilt and fear in healthy siblings, especially those born after the death of the sick infant. Some offspring reported a high level of pregnancy-related anxiety – both for the consequent pregnancies of their mothers and their own future pregnancies as adults. Indeed, the report states that “several participants were considering adoption to avoid pregnancy risks”. Many rare diseases lead to infant or childhood mortality.

    An earlier article, written by the same leading author, presents a psycho-educative pilot project designed to “support the emotional needs of siblings of children with various chronic/serious conditions”. Conceptualised as a developmental (versus psychiatric) model, the programme avoids diagnosing and thus “pathologizing” siblings of chronically sick children. Instead, it seeks to intervene in a meaningful and constructive manner to help siblings avoid destructive behavioural and emotional responses vis-à-vis the sick kindred. The article presents two examples, one concerning a sibling suffering from chronic kidney disorder and the other of a child with a metabolic disorder. The pilot experience revealed a number of useful and concrete recommendations, amongst which, that parents schedule time alone with the well sibling(s). The authors also “urge pediatricians to include siblings of ill children in their models of family-centered care and to develop interventions to avert long-term distress”. Certain health centres do offer resources for siblings. The Queen Silvia Children’s Hospital in Sweden, for example, has a Sibling Coordinator service available to support the brothers and sisters of sick children that offers a venue for communication and also organises outings and other distractions.
    Consult the abstract of the first article
    Consult the abstract of the second article

     


     
    Orphanet News
     
    New Texts
     
    New Orphanet Journal of Rare Diseases publications
     
    Sheldon-Hall syndrome
     


     
    New Syndromes
     
    Dystonia-parkinsonism: a new phenotype associated with PLA2G6 mutations
     
    The authors describe three individuals from two unrelated families who presented with adult-onset levodopa-responsive dystonia-parkinsonism, pyramidal signs and cognitive/psychiatric features, and cerebral and cerebellar atrophy on magnetic resonance imaging but absent iron in the basal ganglia. They identified mutations in the PLA2G6 gene. PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs. The cases described here associate mutations in PLA2G6 with adult-onset dystonia-parkinsonism with absent iron on brain imaging.
    Read the PubMed abstract

     
    Ann Neurol ; 19-23 ; January 2009
     


     
    New Genes
     
    Dravet syndrome: sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 mainly affecting females
     
    Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. To determine whether the gene PCDH19 is responsible for a Dravet-like syndrome, the authors sequenced its coding region in 73 SCN1A-negative patients. Nine different point mutations were identified in 11 unrelated female patients. In addition, they demonstrated that the fibroblasts of a male patient were mosaic for the PCDH19 deletion. Patients with PCDH19 and SCN1A mutations had very similar clinical features, including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression. There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences) in those with PCDH19 mutations.
    Read the PubMed abstract

     
    To read more about "Dravet syndrome"

     
    PLoS Genet ; e1000381 ; February 2009
     
    Pelizaeus-Merzbacher disease: mutations in the thyroid hormone transporter gene MCT8
     
    Pelizaeus-Merzbacher disease is an X-linked recessive inherited leukodystrophy. The authors report mutations in the thyroid hormone transporter gene MCT8 in 12 patients affected by hypomyelinating leukodystrophies of unknown aetiology.
    Read the PubMed abstract

     
    To read more about "Pelizaeus-Merzbacher disease"

     
    Ann Neurol ; 114-118 ; January 2009
     
    Congenital myasthenic syndrome: mutations in LAMB2 cause a severe form of the disease
     
    The authors describe a severe form of congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations caused by two truncating mutations in the gene encoding the laminin beta2 subunit (LAMB2). This case, which represents a new type of synaptic CMS, exemplifies the wide variability of phenotypes associated with LAMB2 mutations and underscores the fundamental role that laminin beta2 plays in the development of the human neuromuscular junction.
    Read the PubMed abstract

     
    To read more about "Congenital myasthenic syndromes"

     
    J Med Genet ; 203-208 ; March 2009
     
    Wolff-Parkinson-White syndrome: a de novo BMP2 deletion found
     
    Wolff-Parkinson-White syndrome (WPW) is a bypass re-entrant tachycardia that results from an abnormal connection between the atria and ventricles. The authors identified five individuals with non-recurrent deletions of 20p12.3. Four of these individuals had WPW syndrome with variable dysmorphisms and neurocognitive delay. With the exception of one maternally inherited deletion, all occurred de novo, and the smallest of these harboured a single gene, BMP2. In two individuals with additional features of Alagille syndrome, deletions of both JAG1 and BMP2 were identified.
    Read the PubMed abstract

     
    To read more about "Wolff-Parkinson-White syndrome"

     
    J Med Genet ; 168-175 ; March 2009
     
    Ichthyosis, follicular atrophoderma, and hypotrichosis: mutations found in a serine protease synthesized in epithelia
     
    The authors analyzed two consanguineous families from the United Arab Emirates and Turkey with an autosomal recessive syndrome of diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and woolly hair. They identified a homozygous splice-site mutation in the Arab patients and a frame-shift deletion in the Turkish patient in the gene ST14, the product of which, matriptase, is a type II transmembrane serine protease synthesized in most human epithelia.
    Read the PubMed abstract

     
    J Invest Dermatol ; 862-869 ; April 2009
     
    SCID and ADHD associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
     
    The authors describe a girl with T-B+NK+ SCID with a deficit of coronin-1A, an actin cytoskeleton regulation protein. Molecular analysis revealed bi-allelic mutations. This genomic region at 16p11.2 is subject to recurrent copy number variations associated with autism spectrum disorders, including attention deficit and hyperactivity, present in the patient. This case highlights the first link between actin cytoskeleton regulation and SCID.
    Read the PubMed abstract

     
    Clin Immunol ; 24-30 ; April 2009
     


     
    Research in Action
     
    Fundamental Research
     
    GENESTAT: an information portal for the design and analysis of genetic association studies
     
    The authors present version 2.0 of the GENESTAT information portal (www.genestat.org) for statistical genetics. GENESTAT guides on statistical methodology related to the broad spectrum of research in genetic epidemiology. GENESTAT 2.0 focuses on genetic association studies. Each entry provides a summary of a topic and gives links to key papers, websites and software. The flexibility of the internet is utilised for cross-referencing and for open editing. Methods and software developers are invited to contribute to the portal, which is powered by a Wikipedia-type engine and allows easy additions and editing.
    Read the PubMed abstract

     
    Eur J Hum Genet ; 533-536 ; April 2009
     
    Autoimmune polyendocrine syndrome type 1: pulmonary autoimmunity as a feature and KCNRG as a bronchial autoantigen
     
    Patients with autoimmune polyendocrine syndrome type 1 (APS-1) suffer from multiple organ-specific autoimmunity with autoantibodies against target tissue-specific autoantigens. Endocrine and nonendocrine organs such as skin, hair follicles, and liver are targeted by the immune system. Despite sporadic observations of pulmonary symptoms among APS-1 patients, an autoimmune mechanism for pulmonary involvement has not been elucidated. The authors report here on a subset of eight APS-1 patients with respiratory symptoms. Severe airway obstruction was found in 4 patients, leading to death in 2. A putative potassium channel regulator (KCNRG) was identified as a pulmonary autoantigen.
    Read the PubMed abstract

     
    To read more about "Autoimmune polyendocrinopathy, type 1"

     
    Proc Natl Acad Sci USA ; 4396-4401 ; 17 March 2009
     
    Down syndrome: insights into the manifestations, outcomes, and mechanisms of leukemogenesis
     
    Children with Down syndrome (DS) show a spectrum of clinical anomalies, including cognitive impairment, cardiac malformations, and craniofacial dysmorphy. Moreover, haematologists have noted that these children commonly show macrocytosis, abnormal platelet counts, and an increased incidence of transient myeloproliferative disease (TMD), acute megakaryocytic leukemia (AMKL), and acute lymphoid leukaemia (ALL). The authors summarise the clinical manifestations and characteristics of these leukaemias, provide an update on therapeutic strategies and patient outcomes, and discuss the most recent advances in DS-leukaemia research.
    Read the PubMed abstract

     
    To read more about "Trisomy 21"

     
    Blood ; 2619-2628 ; 19 March 2009
     
    Clinical Research
     
    Monosomy 22q11: genetic compensation in a human genomic disorder
     
    Cytogenetic studies of the parents of a girl with monosomy 22q11 (also referred to as DiGeorge or velocardiofacial syndrome) revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. This finding has implications for genetic counselling and represents a case of genetic compensation in a human genomic disorder.
    Read the PubMed abstract

     
    To read more about "Monosomy 22q11"

     
    N Engl J Med ; 1211-1216 ; 19 March 2009
     
    Trisomy Xq28 with intestinal and bladder dysfunction and a distinctive facial appearance
     
    Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. The authors identified an Xq28 duplication in families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. In addition to MECP2, these duplications encompassed other genes already known to be associated with diseases including Filamin A (FLNA). This article discusses which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. The authors propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these families.
    Read the PubMed abstract

     
    To read more about "Trisomy Xq28"

     
    Eur J Hum Genet ; 434-443 ; April 2009
     
    Trisomy Xq28: MECP2 duplications in patients with X-linked intellectual deficit and males with severe encephalopathy
     
    Duplications in Xq28 involving MECP2 have been described in patients with severe intellectual deficit, infantile hypotonia, progressive spasticity, and recurrent infections. The frequency of Xq28 duplications including MECP2 has yet to be determined in patients with unexplained X-linked intellectual deficit and (fe)males with severe encephalopathy. In this study, the authors screened 283 patients with X-linked intellectual deficit, identifying three Xq28 duplications including MECP2, which suggests that approximately 1% of unexplained X-linked intellectual deficit may be caused by MECP2 duplications. They found three additional MECP2 duplications in 134 male patients with severe encephalopathy, indicating that the mutation frequency could be as high as 2% in this group of patients. In 329 female patients with severe encephalopathy, no Xq28 duplications were detected. In total, 13 male patients with a MECP2 duplication from six unrelated families were assessed. The majority of the patients also presented with absent speech, seizures, and progressive spasticity as well as ataxia or an ataxic gait and cerebral atrophy, two previously unreported symptoms. The authors propose to implement DNA copy number testing for MECP2 in the current diagnostic testing in all males with moderate to severe intellectual deficit accompanied by (progressive) neurological symptoms.
    Read the PubMed abstract

     
    To read more about "Trisomy Xq28"

     
    Eur J Hum Genet ; 444-453 ; April 2009
     
    Atypical Rett syndrome: a third case described
     
    Only two patients with 14q12 deletion have been reported to date. Here, the authors describe an additional patient with a similar deletion in order to improve the clinical delineation of this new microdeletion syndrome. The emerging phenotype is characterised by a Rett-like clinical course with an almost normal development during the first months of life followed by a period of regression. A peculiar facial phenotype is also present, characterised by mild dysmorphisms such as downslanting palpebral fissures, bilateral epicanthic folds, depressed nasal bridge, bulbous nasal tip, tented upper lip, everted lower lip and large ears. The relationship between this microdeletion syndrome and the congenital variant of Rett syndrome due to point mutations in one of the genes included in the deleted region, FOXG1, is discussed.
    Read the PubMed abstract

     
    To read more about "Atypical Rett syndrome"

     
    Eur J Med Genet ; Epub ahead of print ; 19 March 2009
     
    Noonan syndrome and cardio-facio-cutaneous syndrome: multiple giant cell lesions in patients
     
    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signalling cascade. The NS phenotype is rarely accompanied by multiple giant cell lesions (MGCL) of the jaw. In a cohort of 75 NS patients the authors detected SOS1 mutations in 11 individuals, four of whom had MGCL. To explore further the relevance of aberrant RAS-MAPK signalling in syndromic MGCL, they analyzed the established genes causing CFCS in three subjects with MGCL associated with a phenotype fitting CFCS. Mutations in BRAF or MEK1 were identified in these patients. All mutations detected in these seven patients with syndromic MGCL had previously been described in NS or CFCS without apparent MGCL.
    Read the PubMed abstract

     
    To read more about "Cardiofaciocutaneous syndrome"
    To read more about "Noonan syndrome"

     
    Eur J Hum Genet ; 420-425 ; April 2009
     
    Cystic fibrosis: variability in diagnostics of CFTR gene mutations in European genetic testing laboratories
     
    Cystic fibrosis is the most common potentially fatal genetic disorder among Caucasian children. It is characterised by alterations in the CFTR protein. A study in the European Journal of Human Genetics describes two families, each with a child diagnosed with cystic fibrosis at birth. In both cases, genetic analysis identified a homozygous mutation in the child. However, diagnostic tests performed on both sets of parents at a later time revealed a double heterozygosity in both cases, with the children carrying different mutations on each allele. A second study in the same journal describes how cystic fibrosis (CF)-related DNA diagnostics were used as a model for a pilot survey of the variability in the utilisation of qualitative CE-marked in vitro diagnostic (IVD) assays and the scale of their modification by end users. A structured questionnaire, developed in the context of the EuroGentest project, was distributed within the frame of the 2005 annual CF external quality assessment (EQA) scheme. Its aim was to evaluate the variability in the use of different CE-marked IVD assays in routine CF DNA diagnostics. In total, 125 responses from EQA scheme participants were received. Almost half of the respondents modified manufacturer-recommended protocols. They also reported sporadic and/or recurrent problems with assay performance and genotyping of particular alleles. Results of this survey substantiate the importance of guidelines for proper verification of CE-marked IVD assays in DNA diagnostics, using CF as a model.
    Read the first PubMed abstract
    Read the second PubMed abstract

     
    To read more about "Cystic fibrosis"

     
    Eur J Hum Genet ; 517-519 ; April 2009
    Eur J Hum Genet ; 537-540 ; April 2009

     
    Moyamoya disease: from diagnostics to treatment
     
    Moyamoya disease is an angiogenic disease caused by progressive stenosis of the cerebral arteries located at the base of the brain. The disease remains asymptomatic in many cases. The authors present the epidemiology, clinical presentation, pathophysiology, prognostics, diagnostics and treatment for moyamoya disease.
    Read the PubMed abstract

     
    To read more about "Moyamoya disease"

     
    N Engl J Med ; 1226-1237 ; 19 March 2009
     
    Therapeutic Approaches
     
    Congenital muscular dystrophy: pathology is alleviated by doxycycline in a laminin-alpha2-null model
     
    Congenital muscular dystrophy type 1A is an autosomal recessive disease caused by loss-of-function mutations in the laminin-alpha2 gene, resulting in motor nerve and skeletal muscle dysfunction. To identify a possible pharmacological therapy for laminin-alpha2 deficiency, the authors tested treatment with minocycline or doxycycline, tetracycline derivatives reported to have antiapoptotic effects in mammals, in laminin-alpha2-deficient mice. They found that treatment with either minocycline or doxycycline increased the median lifespan of laminin-alpha2-null mice from approximately 32 days to approximately 70 days. Furthermore, doxycycline improved postnatal growth rate and delayed the onset of hind-limb paralysis. Doxycycline-treated laminin-alpha2-deficient muscles had increased Akt phosphorylation, decreased inflammation, and decreased levels of Bax protein, terminal deoxynucleotidyltransferase-mediated dUTP nick end labeling-positive myonuclei, and activated caspase-3.
    Read the PubMed abstract

     
    To read more about "Congenital muscular dystrophy type 1A"

     
    Ann Neurol ; 47-56 ; January 2009
     


     
    Patient Management and Therapy
     
    Familial hypercholesterolemia: ACAT inhibition and progression of carotid atherosclerosis in patients
     
    The authors evaluated the efficacy and safety of pactimibe in inhibition of atherosclerosis in 892 patients heterozygous for familial hypercholesterolemia conducted at 40 lipid clinics in the United States, Canada, Europe, South Africa, and Israel. In patients with familial hypercholesterolemia, pactimibe had no effect on atherosclerosis as assessed by changes in maximum carotid intima-media thickness (CIMT) compared with placebo but was associated with an increase in mean CIMT as well as increased incidence of major cardiovascular events.
    Read the PubMed abstract

     
    To read more about "Hypercholesterolemia, familial"

     
    JAMA ; 1131-1139 ; 18 March 2009
     
    Acute promyelocytic leukaemia: long-term efficacy and safety of all-trans retinoic acid/arsenic trioxide-based therapy
     
    All-trans retinoic acid (ATRA)/arsenic trioxide (ATO) combination-based therapy has benefitted newly diagnosed acute promyelocytic leukaemia (APL) in short-term studies, but the long-term efficacy and safety remained unclear. From April 2001, the authors followed 85 patients administered all-trans retinoic acid (ATRA)/arsenic trioxide (ATO) combination-based therapy. Eighty patients entered complete remission (CR). The results demonstrate the high efficacy and minimal toxicity of ATRA/ATO treatment for newly diagnosed APL in long-term follow-up, suggesting a potential frontline therapy for de novo APL.
    Read the PubMed abstract

     
    To read more about "Leukemia, promyelocytic, acute"

     
    Proc Natl Acad Sci USA ; 3342-3347 ; 3 March 2009
     
    Cystic fibrosis: preliminary evidence for cell membrane amelioration in children by 5-MTHF and vitamin B12 supplementation
     
    Cystic fibrosis (CF) is one of the most common fatal autosomal recessive disorders in the Caucasian population caused by mutations of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR). New experimental therapeutic strategies for CF propose a diet supplementation to affect the plasma membrane fluidity and to modulate amplified inflammatory response. This study evaluated the efficacy of 5-methyltetrahydrofolate (5-MTHF) and vitamin B12 supplementation for ameliorating cell plasma membrane features in 31 paediatric patients aged from 3 to 8 years old with cystic fibrosis. 5-MTHF and vitamin B12 supplementation increased plasma and RBC folate levels; decreased plasma homocysteine levels; modified RBC membrane phospholipid fatty acid composition; increased RBC K(+) content; reduced RBC membrane oxidative damage and HSP70 membrane association. Thus 5-MTHF and vitamin B12 supplementation might ameliorate RBC membrane features of children with CF.
    Read the PubMed abstract

     
    To read more about "Cystic fibrosis"

     
    PLoS ONE ; e4782 ; March 2009
     
    Leukocyte adhesion deficiency: allogeneic hematopoietic stem-cell transplantation
     
    Leukocyte adhesion deficiency is a rare primary immune disorder caused by defects of the CD18 beta-integrin molecule on immune cells. The condition usually presents in early infancy and is characterised by deep tissue infections, leukocytosis with impaired formation of pus, and delayed wound healing. Allogeneic hematopoietic stem-cell transplantation offers the possibility of curative therapy, and with patient numbers at any individual centre being limited, the authors surveyed the transplant experience at 14 centres worldwide. The course of 36 children with a confirmed diagnosis of leukocyte adhesion deficiency who underwent hematopoietic stem-cell transplantation between 1993 and 2007 was retrospectively analysed. Hematopoietic stem-cell transplantation offers long-term benefit in leukocyte adhesion deficiency and should be considered as an early therapeutic option if a suitable HLA-matched stem-cell donation is available.
    Read the PubMed abstract

     
    To read more about "Leukocyte adhesion deficiency"

     
    Pediatrics ; 836-840 ; March 2009
     
    Central precocious puberty: consensus statement of the use of gonadotropin-releasing hormone analogues in children
     
    Gonadotropin-releasing hormone analogues revolutionised the treatment of central precocious puberty. However, questions remain regarding their optimal use in central precocious puberty and other conditions. The Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology convened a consensus conference to review the clinical use of gonadotropin-releasing hormone analogues in children and adolescents. The efficacy of gonadotropin-releasing hormone analogs in increasing adult height is undisputed only in early-onset (girls <6 years old) central precocious puberty. Other key areas, such as the psychosocial effects of central precocious puberty and their alteration by gonadotropin-releasing hormone analogues, need additional study. Few controlled prospective studies have been performed with gonadotropin-releasing hormone analogues in children, and many conclusions rely in part on collective expert opinion. The conference did not endorse commonly voiced concerns regarding the use of gonadotropin-releasing hormone analogues, such as promotion of weight gain or long-term diminution of bone mineral density. Use of gonadotropin-releasing hormone analogues for conditions other than central precocious puberty requires additional investigation and cannot be suggested routinely.
    Read the PubMed abstract

     
    To read more about "Central precocious puberty"

     
    Pediatrics ; e752-e762 ; April 2009
     
    CADASIL management: what to do when there is little one can do
     
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare disease that leads to migraine, mood disorders, recurrent lacunar strokes and early vascular dementia. This autosomal-dominant condition is caused by mutations in the NOTCH3 gene and is characterised by degeneration of vascular smooth muscle cells. At present, no evidence-based treatment for CADASIL is available and only relief of symptoms can be offered to patients. This review focuses on an update of CADASIL management, based on the recent clinical and basic evidence, and discusses possible new treatment targets for CADASIL.
    Read the PubMed abstract

     
    To read more about "CADASIL syndrome"

     
    Expert Rev Neurother ; 197-210 ; February 2009
     


     
    Grants
     
    National Organization for Rare Disorders issues requests for proposals for five rare diseases
     
    The National Organization for Rare Disorders (NORD) has announced funding opportunities for 2009 through its clinical research program. Grants are available through this international programme for the study of five rare diseases. The deadline for submitting abstracts and letters of intent to NORD is 15 May 2009.

    The NORD Research Grant Program provides seed-money grants to academic scientists for clinical research of diseases for which there are few other sources of funding. In all, seven grants are available at this time for the study of the following five diseases:
  • Arteriovenous Malformation of the Brain and/or Spinal Cord
  • Cat Eye Syndrome
  • Essential Thrombocythemia
  • Olivopontocerebellar atrophy (OPCA) and closely related diseases
  • Psuedomyxoma Peritonei
  • For further details

     
    La Fondation Motrice issues research grant proposal call for cerebral palsy
     
    La Fondation Motrice has issued a research grant proposal for children and adults with cerebral palsy for projects in fundamental, applied or technological research, allowing progress in understanding, preventing, caring for persons with CP, therapy and rehabilitation. Application deadline: 7 May 2009

    For further information

     


     
    Partnersearch, Job Opportunities
     
    Health Informatics Scientist sought for rare disease cross-referencing
     
    The University of Manchester School of Clinical and Laboratory Sciences is seeking a Health Informatics Scientist. The candidate will be responsible for developing and applying methodologies for cross-referencing rare diseases to clinical coding systems including SNOMED-CT, MeSH and MedDRA. This will support the development of the Orphanet rare disease encyclopaedia, revision of the International Coding of Diseases version 10 (ICD-10) to version 11 and revision of coding standards such as SNOMED-CT in the field of rare and genetic diseases.

    A good first degree in a computer science, health informatics discipline, or in a relevant biological discipline or equivalent with demonstrated abilities in health informatics is required. Skills in ontology development and use, experience of ICD-10, SNOMED-CT, MeSH and MedDRA are also needed. Experience or qualifications in health informatics, and experience of clinical genetics or diagnostic genetic services would be a distinct advantage.
    For further details

     


     
    Courses & Educational Initiatives
     
    Training Course on the Clinical Management of Disorders of Iron Metabolism
     
    The European School of Haematology announces a Training Course on the Clinical Management of Disorders of Iron Metabolism. A limited number of scholarships are available to scientists and clinicians (scholarship deadline: 15 May).

    Date: 2-4 July 2009
    Venue: Albufeira, Portugal
    For further details

     


     
    What's on Where?
     
    Eurordis Annual Membership Meeting 2009
     
    Date: 8-9 May 2009
    Venue: Athens, Greece

    The Eurordis Annual Membership Meeting, hosted by the Greek Alliance for Rare Diseases (PESPA), provides an opportunity to learn more about National Plans for rare diseases, to meet with other stakeholders, and to participate in lively seminars.
    For further details

     
    Molecular Mechanisms of Neurodegeneration
     
    Date: 8-10 May 2009
    Venue: Milan, Italy

    Addressing the most important issues involved in protein toxicity in neurons, providing participants with updated information that could be useful to researchers in the field of neurodegenerative disorders.
    For further details

     
    7th World Congress on Melanoma
     
    Date: 12-16 May 2009
    Venue: Vienna, Austria

    A joint meeting with the 5th Congress of the European Association of Dermato-Oncology. Clinicians and researchers will focus on the state of the art in prevention, recognition, and treatment of cutaneous neoplasms covering melanoma and non melanoma skin cancer as well as lymphomas and rare skin tumours.
    For further details

     
    Symposium on Standards of Care for Children with Cancer
     
    Date: 13 May 2009
    Venue: Warsaw, Poland

    The results and future possible actions will be discussed following a survey of 25 European countries on state regulations concerning standards of care in paediatric oncology. This survey provides evidence of the disparity in European standards of care and highlight the need for greater attention to be paid towards creating standards in paediatric oncology/haematology wards, particularly in EU member states.
    For further details

     
    22nd Annual Meeting of the European Musculo-Skeletal Oncology Society
     
    Date: 13-16 May 2009
    Venue: Stuttgart, Gemany

    Including findings and research activities from the Sarcoma Groups of the German Society for Pediatric Oncology and Hematology. Session on rare bone and soft tissue tumours, and on paediatric and adolescent sarcomas.
    For further details

     
    8th Balkan Meeting on Human Genetics
     
    Date: 14-17 May 2009
    Venue: Cavtat, Croatia

    "Rare diseases – public policy, research, diagnosis and management" is one of the topics featured in this conference.
    For further details

     
    Conference on Recent Standards in Diagnosis, Treatment and Medical Care for Some Rare Neuromuscular Diseases
     
    Date: 21-23 May 2009
    Venue: Kharkiv, Ukraine

    The agenda will include: Spinal muscular atrophy - modern and newest approaches to diagnostics and treatment; Duchenne muscular dystrophy - modern and newest approaches to diagnostics and treatment; other rare neuromuscular pathologies - latest approaches to diagnostics and treatment; management of respiratory system; orthopaedic aspects; organisation of medical service for rare neuromuscular disorders (diagnosis, registering, conducting of clinical trials and research in compliance with principles of GMP); and more.
    For further details

     
    12th International Congress on Neuronal Ceroid Lipofuscinoses
     
    Date: 3-6 June 2009
    Venue: Hamburg, Germany

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    Details to follow.
    For further details

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

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

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

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

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

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

     


     
    Press & Publications
     
    Two new workshop reports from EPPOSI provide insight on sharing strategies and resources for rare diseases
     

    The European Platform for Patients’ Organisations, Science and Industry EPPOSI has issued two workshop reports that provide insight on how to share strategies and resources across Europe for diagnostics, treatment, and managing chronic conditions. The report of the Ninth EPPOSI Workshop on Partnering for Rare Disease Therapy Development is entitled: Partnering Along the Chain and Across the Borders: Sharing Strategies and Tools for Access to Diagnosis and Treatment. Recounting the proceedings that took place in Paris last October under the French Presidency of the European Union, the report compiles the key messages presented in each of the five sessions that made up the two-day event and lists a series of recommendations culled from each. Consult the report

    The second report is a summary of the EPPOSI Workshop on Chronic Conditions, which took place in December 2008 in order to reflect upon a European strategy for chronic illnesses. Amongst the key issues considered were: What is currently understood by the term “chronic conditions”? How can stakeholders work together to produce a harmonised definition? What should a European strategy for chronic conditions look like? What are the potential roles of the different stakeholders - patient groups, industry, academia - in developing such a strategy, including the identification of potential partnerships to facilitate this process? What are possible ways to improve the education of patients, citizens, medical staff and other stakeholders - from MEPs to trade unions - about chronic conditions? The workshop brought forward a set of conclusions and recommendations, some of which were geared to 1) deepen the understanding of issues relating to chronic conditions, 2) improve equity for patients with chronic conditions, and 3) define best practice in the field. Consult the report

     


     
    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, Manuel Posada de la Paz, Charlotte Rodwell, Claire Scharf-Kroener, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: 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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