5 June 2015 print
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Editorial
 
Consensus process towards prioritisation of genetic tests
 

Next generation sequencing has thrown open the doors for the proper diagnosis and testing of several genetic diseases. Due to the considerable progress in this field over the past years, the cost to sequence an individual genome or exome has reduced substantially as well. However, the decrease in the laboratory costs per test is not reflected in the overall savings in health-care systems as the "cost of data analysis and storage, interpreting the test results, counselling services and follow-up care could lead to an increase in the overall health-care costs associated with genetic testing". The European health-care system works with a limited budget due to which it has become necessary to determine the criteria to decide which genetic services will be funded from the public budgets. The decision on which genetic services will be funded in the next decade from public funds, as all of them cannot be funded has to be based on ethically and economically reflected prioritisation criteria.

A paper published in European Journal of Human Genetics describes how the prioritisation of genetic tests can be formulated. According to the authors "the challenge for prioritising genetic tests is to determine a set of criteria that can be applied to rank order different tests according to their relative priority". Since the authors also note that reasonable people can still disagree about which criteria should be applied, these issues have to be resolved in a fair decision procedure to obtain legitimate guidance. The authors utilise the principles of accountability for reasonableness (A4R) in order to initiate a decision process about health-care prioritisation on a European level. They describe the A4R process followed to develop the prioritisation criteria which involved identifying relevant prioritisation criteria to develop a theoretical framework before applying tentative weights or ranks to each criteria. A good part of these activities took place at the two-day stakeholder and expert workshop (from 28 to 29 November 2012), which was part of the activities conducted within EuroGentest (www.eurogentest.org).

From this extensive exercise, the authors identified the crucial elements for the decision making process which included: "evidence of clinical benefit for the individual being tested, benefit for planning one’s life, benefit for other persons and timing to obtain the benefit, the likelihood of disease or benefit, severity and progression of the disease and the costs of the test". Nonetheless, the authors also emphasise that these criteria should not be seen as fixed or final, but rather as a starting point for further discussions toward a more harmonised and considered approach to priority setting for genetic services across the EU. The authors believe that “the results from this study provide important points to consider for prioritising genetic tests and highlight issues that need further development.”
Read the open access article
 


 
National & International Policy Developments
 
Marketing exclusivity provisions for rare disease drugs reintroduced in a legislative bill of the United States
 
An updated draft of the House Energy and Commerce (E&C) Committee's 21st Century Cures Act in the United States (US) reintroduced a provision which would extend marketing exclusivity for some drugs repurposed to treat rare diseases or conditions by six months. The inclusion of the legislative language in this Act comes after it was withdrawn from a previous draft of the legislation. An outcry from rare disease advocacy groups, led to the re-introduction of the provision into the latest draft of the bill. The committee has now approved this legislative initiative and the introduction of the OPEN Act in the US Senate which contain provisions that aim to significantly help the rare disease community. According to NORD “it also puts the patient at the centre of drug approval, strengthens the FDA’s ability to streamline clinical trials, reauthorizes a critical program for rare paediatric disease drug development and further incentivises development of orphan products.”.
For further information

 
Other European news
 
Company conducting clinical trials goes to court to stop advances towards greater transparency
 
Due to the current appetite for increased transparency over the clinical trial process, the Health Research Authority, which authorises trials in the United Kingdom (UK) and works to ensure the safety of patients taking part in these trials, has proposed that all drug trials must in future be registered. A judicial review has now been brought by a leading clinical trials company in the UK called Richmond Pharmacology, challenging the plans for reform. This company which conducts clinical trials on behalf of major pharmaceutical firms, has received permission to bring a judicial review of the HRA’s plans. Campaigners for greater transparency towards the drug development process are dismayed as they believe that “it is shocking that a company is using court action to try to stop transparency.”
For further information

 
Other International News
 
Assessment of the joint ICD-11 Revision process
 
Although the ICD-11 Revision Process is underway since 2009, many member states and interested organisations have raised concerns regarding the process and timelines. In fact a recent article published in the Orphanet Journal of Rare Diseases noted that, at least in the context of rare diseases, the means available for the work carried out during the past years for the ICD-11 Revision Process were very limited considering the scope, ambition and strategic significance of the project. The authors remarked that the contrast between the initially declared goals and the currently foreseen final product is disappointing even if they were satisfied to see that most rare diseases will have a specific code. (Read the article in OrphaNews)

Prompted by these concerns, World Health Organization (WHO) commissioned a review of the ICD Revision Process in October 2014, in order to obtain an independent view of current progress on contents and process of the revision. For this review, initiated by the Director of the Department of Health Statistics and Information Systems at WHO, inputs were solicited from a broad range of stakeholders, which were collected in the form of structured questionnaires and interviews. Findings from a survey of stakeholders are detailed in a report now accessible on the WHO website.

The report, like the article mentioned above, also apprise the issues related to limited resources to carry out a massive project and identify “project and resource management, communication with stakeholders and rebuilding of trust from the stakeholder community” as some of main obstacles with the Revision Process. The report also makes several recommendations to try to complete the ICD Revision Process without further delay than already anticipated. The recommendations provided in the report are for the following:
-Timeline for implementation by 2018
-Communication, marketing, outreach, transparency
-Planning
-Project Management
-Governance
-Education
-Trust. Work on gaining trust of ICD community

WHO has welcomed the counsel provided by the Report of the ICD-11 Revision Review and have published a response to the report with their proposed mode of action for the recommendations suggested by the report. WHO has declared that a revised workplan will be formulated before the end of June 2015, which will be then submitted for approval to the Revision Steering Group-Small Executive Group.
Access the report on the WHO website
Read the WHO response here
 
Guidance Documents and Recommendations
 
Leukodystrophy: consensus statement on preventive and symptomatic care
 
Consult the Pubmed abstract
 
Mol Genet Metab. ; 114(4):516-526 ; April 2015
 
Bioinformatics, Registries and Data Management
 
A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
 
An article published in Cell describes the value of the Drosophila as an efficient invertebrate model system to study human disease, especially since 93% of the Drosophila genes are conserved in humans. This study utilised a two pronged approach to demonstrate this. The authors performed a chemical mutagenesis screen on the Drosophila X chromosome which helped identify 165 genes many of whose function were not known. These mutations are available through the Bloomington Drosophila Stock Center. Furthermore, the authors merged this data with a database from a Mendelian disease resource of patients with rare diseases prioritising a subset of human rare variant alleles for segregation analysis leading to the “(identification) of six families with distinct diseases in which the variants segregate and are likely responsible for causing the associated Mendelian disease.”

The authors believe that this methodology “provides a valuable resource to study the function of many disease genes in different tissues (and) propose that the screen strategy be expanded to the autosomes, and a number of guiding principles should be considered based on this study.”
Read the PubMed abstract

 
PharmacoGenomic Mutation Database: a comprehensive manually curated pharmacogenomic database
 
The Pharmacogenomics Journal has published an article describing a unique resource, developed by BIOBASE Corporation - a United States based company, which has compiled literature on drug response in patients into one easily accessible knowledgebase called PharmacoGenomic Mutation Database (PGMD). To achieve this the authors aggregated data from peer-reviewed articles, FDA and EMA drug labels to "capture information on exact genomic location and sequence changes, on resulting phenotype, drugs administered, patient population, study design, disease context, statistical significance and other properties of reported pharmacogenomic variants which are annotated into functional categories on the basis of their influence on pharmacokinetics, pharmacodynamics, efficacy or clinical outcome."

The article mentions that "over 117 000 unique pharmacogenomic observations, covering all 24 disease superclasses and nearly 1400 drugs" with over 2800 genes have associated pharmacogenomic variants have been released so far. The authors emphasise the user-friendly attributes of the database as well as the fact that it is optimised for use in annotating next-generation sequencing data by providing genomic coordinates for all covered variants. According to the authors this approach provides "meaning to a patient’s genome in a clinical context, helping guide both clinical trials and potential treatment of possibly harmful drugs on an individual basis."
Read the PubMed abstract

 
Lessons from the Parelsnoer Institute in the Netherlands for biobanking and translational medicine
 
An opinion piece based describes the experiences and observations of, the neurodegenerative component of a clinical biobanking initiative in the Netherlands called the Parelsnoer Institute (PSI). Published in the European Journal of Human Genetics describes how the PSI was developed with the thought to "integrate standardised data and biomaterial collection processes into routine care of each of these conditions in a harmonised manner" within and across all eight University Medical Centers (UMCs) in the Netherlands. The article then focuses on how the coordinated data and tissue collection processes – specifically within the neurodegenerative component of the PSI – have worked "to increase the quality of neurodegenerative patient care across all eight of the UMCs."
Read the PubMed abstract

 
Screening and Testing
 
Exome sequencing for endocrine disorders: past present and future
 
A review published in Nature Reviews Endocrinology provides an overview of the new insights and discuss the role that exome sequencing play in endocrine research as well as in future clinical practice in light of the major advancements in the understanding of many rare genetic syndromes with prominent endocrine involvement. The authors believe that “use of WES in clinical endocrinology will continue to expand, but will be primarily focused on patients with undiagnosed rare conditions.”
Read the PubMed abstract

 
Two decade old newborn screening in the United States sparks privacy fears
 
Research on the blood spots collected as part of the newborn screening program in the United States, which tests for more than 30 rare and serious diseases that are treatable if caught early in life, is now vulnerable. According to an article published in Science, although the Newborn Screening Saves Lives Reauthorization Act of 2014 was due to be updated, an outcry from a coalition of privacy advocates and conservative politicians in the US has led to mandating informed consent when newborn blood spots were used in federally funded research. The author emphasises that until now, studying such samples, which carry no names or addresses and are not linked to an individual’s health records recommended informed consent but did not require it. However, the author believes that this law is turning that "recommendation into a national requirement, at least for blood spots while other samples, like tumour tissue or deidentified blood samples from adults, could be next." The Department of Health and Human Services is rewriting its “Common Rule” governing human subject research and an upcoming draft will reveal whether it wants consent for all de-identified samples.
Access the article

 


 
Ethical, Legal & Social Issues
 
Discussing off-label uses of drugs with doctors: a constitutional right or sidestepping the United States FDA authority?
 
A Dublin based pharmaceutical company - Amarin Pharma, is currently in the process of suing the Food and Drug Administration of the United States for the right to talk about unapproved uses for their products as long as it is an honest depiction of the products capabilities. Even though some lower courts have agreed to this practice, the federal government in the United States have levied huge fines to some companies for talking to patients about off-label use for their medications. AmarinPharma is arguing that it has a right under the First Amendment (free speech) of the constitution of the United States to share certain information about its product with doctors. According to the lawyers for the company this is the first time a manufacturer had pre-emptively sued the agency over the free speech issue, before being accused of any wrongdoing. According to them “If you tell the truth — if you’re not misleading — then the First Amendment protects you when you provide this sort of information,”. But critics point out that this practice sidesteps the authority of the FDA, which is responsible for making sure that only safe and effective drugs reach the marketplace and that the constitution does not guarantee the First Amendment as an absolute right.
For further information

 
Development and validation of questionnaires to assessing the effect of dietary treatment of phenylketonuria on patients and caretakers
 
A study published in Orphanet Journal of Rare Diseases describes the development and validation of the first set of phenylketonuria (PKU)-specific Health-related Quality of Life (HRQoL) questionnaires. These questionnaires were developed for patients with PKU and their parents. They cover the physical, emotional, and social impacts of PKU and its treatment on patients’ lives, are age specific (Child PKU-QOL, Adolescent PKU-QOL, Adult PKUQOL). They will also enable the evaluation of the HRQoL of children by their parents (Parent PKUQOL), and have been cross-culturally adapted for use in seven countries (i.e. France, Germany, Italy, The Netherlands, Spain, Turkey and the UK). The authors believe that these are very promising tools to explore how patients’ perceptions evolve with age, to increase knowledge of the impact of PKU on patients and parents in different countries, and to help monitor the effect of therapeutic strategies.
Read the PubMed abstract

 
Ethical management in the constitution of a European database for leukodystrophies rare diseases
 
A review published in European journal of paediatric neurology analyse how ethical issues were identified and handled at project management level when setting up an ethics committee for the EU LeukoTreat program. This program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain in which ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations whose overarching goal is to apply core ethics principles to specific project needs and ensure patient rights and protection in research addressing the context of these rare diseases. The committee acts as the forum for tackling specific issues tied to data sharing and patient participation: the thin line between care and research. This work led to a number of recommendations for ensuring transparency and optimizing the partnership between scientists and patients. Recommendations provided by their analysis involve the need for a charter establishing the commitments binding health professionals and the information items to be delivered. They also recommend ongoing feedback on the database, including delivering global results in a broad-audience format, emerged as a key recommendation and that information should be available to all patients in the partner countries developing the database and should be scaled to different patient profiles.
Read the PubMed abstract

 
Effective communication between investigators and parents during paediatric clinical trials
 
An article published in Seminars in Pediatric Neurology addresses the ethical issues arising while conducting research to find more effective treatments and potential cures of childhood illnesses. The authors believe that ethical conduct of research requires "minimising the inherent risks of research, especially when it involves vulnerable populations like children" and provide the example of DMD - a progressive and fatal disease with no FDA-approved treatment to elucidate the ethical complexities of conducting research on children.

The authors note that gene therapies are viewed by many in the DMD community with great promise and therefore many parents have hope for direct medical benefits even though the goal of research could be to explore or discover generalisable knowledge especially in early-phase gene therapy trials. This raises the concern for the therapeutic misconception if it is not properly communicated to the parents. Therefore the authors believe that "effective communication by physician-investigators is a prerequisite to enable adequate and fully informed decision-makers in these cases wherein they refrain from confusing language that conflates clinical care and research and avoid suggestions of direct benefit."
Access the article

 


 
EU Project Follow-up
 
CORBEL cluster project funded by the European Union
 
The European Union has awarded €14.5 million to support efforts to facilitate access to data, medical and biological facilities for life science research which will be coordinated by ELIXIR. The award will be spent over a four year period to establish and support a new model for biological and medical research in Europe by harmonising user access to resources, unifying data management and creating common ethical and legal services. This project involves ‘CORBEL’ (Coordinated Research Infrastructures Building Enduring Life-Science Services) building on existing efforts within BioMedBridges to develop the tools, services and data management required by cutting edge European research projects. CORBEL aims to establish a collaborative framework of shared services between the ESFRI Biological and Medical Research Infrastructures that will transform the European research community from discovery of basic biological mechanisms to applied medical translation – through the provision of a unified interface, aligned services and coordinated user access to a range of advanced technology platforms. CORBEL will act as a joint platform that will visibly reduce redundancy and simplify project management, transforming the ability of users to deliver advanced, cross disciplinary research in Europe.

Data management Work Package, EMBL-EBI will work on implementing the necessary data standards, management, deposition and access to unite all of Europe’s lifescience research infrastructures. Apart from being coordinated by ELIXIR CORBEL, the ESFRI Research Infrastructures involved are: BBMRI, EATRIS, ECRIN, EMBRC, EUOPENSCREEN, EuroBioImaging, INFRAFRONTIER, Instruct, ISBE and MIRRI.
For further information

 


 
Orphanet News
 
Now online: updated lists of medicinal products for rare diseases in Europe
 
Orphanet has published the list of all orphan medicinal products that have received a European Marketing Authorisation (MA) at the date stated in the document.The orphan medicinal products list in Europe, with orphan designation and European marketing authorisations, is determined by cross-referencing the list of medicinal products that have been granted an orphan designation with the list of medicinal products that have been granted a marketing authorisation. Both lists are available on the website of the DG health and consumers (DG Sanco) of the European Commission.

 


 
New Syndromes
 


 
Fetal brain arrest: a novel autosomal recessive developmental brain malformation phenotype
 
The authors described five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern, loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem. Fetal magnetic resonance imaging of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. The authors proposed the term fetal brain arrest to distinguish them from other familial patients diagnosed as fetal brain disruption sequence.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 167(5):1089-99 ; May 2015
 
Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene
 
The authors reported on four patients (two families) with craniofacial abnormalities including cleft palate, a highly arched palate or velopharyngeal insufficiency, and intellectual disability with overlapping microdeletions that span the MN1 gene. Comparative genomic hybridization microarray analysis revealed a deletion in the 22q12.1 region, in three family members, that contains the MN1 gene. In addition, a complex 22q12 rearrangement, including a deletion containing the MN1 gene has been identified in another unrelated patient.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 167(5):1047-53 ; May 2015
 


 
New Genes
 

 
Cenani-Lenz syndrome linked to a novel APC mutation in an extended consanguineous Saudi family
 
Consult the Pubmed abstract
 
To read more about "Cenani-Lenz syndrome"

 
J Med Genet. ; 52(5):317-21 ; May 2015
 
NFIX variants associated with a Sotos-like phenotype should be linked to Malan overgrowth syndrome
 
Consult the Pubmed abstract
 
To read more about "Malan overgrowth syndrome"

 
Eur J Hum Genet. ; 23(5):610-5 ; May 2015
 
Brugada syndrome: SCN10A and CACNA1C susceptibility genes do not contribute significantly to the occurrence of the disease in a population with European ancestry
 
Consult the Pubmed abstract
 
To read more about "Brugada syndrome"

 
Hum Mol Genet. ; 24(10):2757-63 ; May 2015
 
Dyskeratosis congenita caused by PARN biallelic mutations in three families
 
Consult the Pubmed abstract
 
To read more about "Dyskeratosis congenita"

 
J Clin Invest. ; 125(5):2151-60 ; May 2015
 
Pseudoxanthoma elasticum due to a missense mutation in combination with a recurrent mutation in ENPP1 in a paediatric case
 
Consult the Pubmed abstract
 
To read more about "Pseudoxanthoma elasticum"

 
J Invest Dermatol. ; 135(5):1294-302 ; May 2015
 
Non-syndromic intellectual disability with epilepsy associated with homozygous missense mutation in STYXL1 and de novo gain-of-function and loss-of-function mutations of SCN8A
 
Consult the Pubmed abstracts
 
To read more about "Rare intellectual disability without developmental anomaly"

 
Eur J Med Genet. ; 58(4):205-10 ; April 2015
J Med Genet. ; 52(5):330-7 ; May 2015
 
Intellectual disability and epilepsy might be caused by genomic aberrations of CACNA2D1 gene in three patients
 
Consult the Pubmed abstract
 
To read more about "Rare intellectual disability without developmental anomaly"

 
Eur J Hum Genet. ; 23(5):628-32 ; May 2015
 
Truncus arteriosus: PRKD1, NRP1 and PRDM1 as novel candidate genes
 
Consult the Pubmed abstract
 
To read more about "Truncus arteriosus"

 
J Med Genet. ; 52(5):322-9 ; May 2015
 
Hirschsprung disease: significant genetic risk detected at SEMA3 but not at NRG1 in 376 families of European ancestry
 
Consult the Pubmed abstract
 
To read more about "Hirschsprung disease"

 
Hum Mol Genet. ; 24(10):2997-3003 ; May 2015
 
Takayasu arteritis: identification of susceptibility loci in IL6 and RSP9/LILRB3 in a genome-wide association study
 
Consult the Pubmed abstract
 
To read more about "Takayasu arteritis"

 
Arthritis Rheumatol. ; 67(5):1361-8 ; May 2015
 


 
Research in Action
 

 
Clinical Research
 
Waldenström macroglobulinemia: review on phase II clinical trials
 
Consult the abstract
 
To read more about "Waldenström macroglobulinemia"

 
Expert Opinion on Orphan Drugs ; 3(5):537-547 ; May 2015
 
Behçet disease: apremilast is effective in treating oral ulcers
 
Consult the Pubmed abstract
 
To read more about "Behçet disease"

 
N Engl J Med. ; 372(16):1510-8 ; April 2015
 
Sickle cell anemia: GMI-1070, a pan-selectin inhibitor, leads to statistically insignificant but large reductions in time to resolution of vaso-occlusive crises
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
Blood ; 125(17):2656-64 ; April 2015
 
Paediatric systemic lupus erythematosus: high doses of triptorelin, which are well tolerated, are needed to achieve and maintain complete ovarian suppression
 
Consult the Pubmed abstract
 
To read more about "Pediatric systemic lupus erythematosus"

 
Arthritis Rheumatol. ; 67(5):1377-85 ; May 2015
 
Juvenile idiopathic arthritis: withdrawal of tumor necrosis factor inhibitor from combination therapy carries a higher risk of disease flare that withdrawing methotrexate first
 
Consult the Pubmed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Arthritis Care Res (Hoboken). ; 67(5):658-66 ; May 2015
 
Systemic sclerosis: increased risk of death following lung transplantation compared to interstitial lung disease, and similar risk compared to pulmonary arterial hypertension
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Arthritis Rheumatol. ; 67(5):1314-22 ; May 2015
 
Malaria: AS01 candidate vaccine prevented a substantial number of cases over a 3-4 year period in young infants and children
 
Consult the Pubmed abstract
 
To read more about "Malaria"

 
Lancet ; [Epub ahead of print] ; April 2015
 
Myelofibrosis with myeloid metaplasia: pacritinib offers a potential treatment option for patients with preexisting anemia and thrombocytopenia
 
Consult the Pubmed abstract
 
To read more about "Myelofibrosis with myeloid metaplasia"

 
Blood ; 125(17):2649-55 ; April 2015
 
Acute lymphoblastic leukemia: poor early minimal residual disease response is an excellent tool to identify patients who may benefit from allogeneic stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Acute lymphoblastic leukemia"

 
Blood ; 125(16):2486-96 ; April 2015
 
SATB2-associated syndromes: phenotype extension
 
Consult the Pubmed abstract
 
Am J Med Genet A. ; 167(5):1026-32 ; May 2015
 
Combined oxidative phosphorylation defect type 14: phenotype extension
 
Consult the Pubmed abstract
 
To read more about "Combined oxidative phosphorylation defect type 14"

 
Am J Med Genet A. ; 167(5):1147-51 ; May 2015
 
Emery-Dreifuss muscular dystrophy: extended phenotype with facial dysmorphology and pulmonary artery hypoplasia
 
Consult the Pubmed abstract
 
To read more about "Emery-Dreifuss muscular dystrophy"

 
Eur J Med Genet. ; 58(4):222-9 ; April 2015
 
Warsaw breakage syndrome: emphasising cutaneous findings
 
Consult the Pubmed abstract
 
To read more about "Warsaw breakage syndrome"

 
Eur J Med Genet. ; 58(4):235-7 ; April 2015
 
Therapeutic Approaches
 

 
Correction of the sickle cell anemia mutation in human hematopoietic stem/progenitor cells
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
Blood ; 125(17):2597-604 ; April 2015
 
Canavan disease: ablating N-acetyl-L-aspartate synthesis by genetic disruption of Nat8l prevents leukodystrophy in a murine model
 
Consult the Pubmed abstract
 
To read more about "Canavan disease"

 
Ann Neurol. ; 77(5):884-8 ; May 2015
 
Amyotrophic lateral sclerosis: overexpression of OXR1 extends survival, improves motor deficits, and delays pathology in the spinal cord and in muscles of model mice
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Brain ; 138(Pt 5):1167-81 ; May 2015
 
Acute graft versus host disease: I-BET151 short-term administration early during bone marrow transplantation reduces the disease severity and improves mortality in mice
 
Consult the Pubmed abstract
 
To read more about "Acute graft versus host disease"

 
Blood ; 125(17):2724-8 ; April 2015
 
Von Hippel-Lindau disease: pharmacological HIF2α inhibition improves the disease-associated phenotype in a zebrafish model
 
Consult the Pubmed abstract
 
To read more about "Von Hippel-Lindau disease"

 
J Clin Invest. ; 125(5):1987-97 ; May 2015
 
Diagnostic Approaches
 

 
Down syndrome: cell-free DNA testing has higher sensitivity, a lower false positive rate, and higher positive predictive value than standard screening
 
Consult the Pubmed abstract
 
To read more about "Down syndrome"

 
N Engl J Med. ; 372(17):1589-97 ; April 2015
 
Cholangiocarcinoma: four DNA methylation biomarkers in biliary brush samples accurately identify the presence of this malignancy
 
Consult the Pubmed abstract
 
To read more about "Cholangiocarcinoma"

 
Hepatology ; 61(5):1651-9 ; May 2015
 


 
Patient Management and Therapy
 
Eosinophilic esophagitis: review on molecular, genetic, and cellular base for the treatment
 
Consult the Pubmed abstract
 
To read more about "Eosinophilic esophagitis"

 
Gastroenterology ; 148(6):1143-57 ; May 2015
 
Eosinophilic granulomatosis with polyangiitis: review on pharmacological approach for the treatment
 
Consult the abstract
 
To read more about "Eosinophilic granulomatosis with polyangiitis"

 
Expert Opinion on Orphan Drugs ; 3(5):505-515 ; May 2015
 
Idiopathic pulmonary fibrosis: review on the orphan drug pirfenidone
 
Consult the abstract
 
To read more about "Idiopathic pulmonary fibrosis"

 
Expert Opinion on Orphan Drugs ; 3(5):587-597 ; May 2015
 
Pulmonary alveolar proteinosis and macrophage transplantation
 
Consult the Pubmed abstract
 
To read more about "Autoimmune pulmonary alveolar proteinosis"

 
N Engl J Med. ; 372(18):1762-4 ; April 2015
 
Leber congenital amaurosis: review on therapies
 
Consult the abstract
 
To read more about "Leber congenital amaurosis"

 
Expert Opinion on Orphan Drugs ; 3(5):563-575 ; May 2015
 
Chronic myeloid leukemia: review on bosutinib for the treatment
 
Consult the abstract
 
To read more about "Chronic myeloid leukemia"

 
Expert Opinion on Orphan Drugs ; 3(5):599-608 ; May 2015
 
Acute myeloid leukemia: review on therapies
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Blood ; 125(16):2461-6 ; April 2015
 
Hodgkin and non-Hodgkin lymphoma: review on brentuximab vedotin for the treatment
 
Consult the abstract
 
To read more about "Hodgkin lymphoma"
To read more about "Non-Hodgkin lymphoma"

 
Expert Opinion on Orphan Drugs ; 3(5):609-618 ; May 2015
 
Non-Hodgkin lymphoma: review on lenalidomide for the treatment
 
Consult the Pubmed abstract
 
To read more about "Non-Hodgkin lymphoma"

 
Blood ; 125(16):2471-2476 ; April 2015
 
MALT lymphoma: review on current and future therapeutic strategies
 
Consult the abstract
 
To read more about "MALT lymphoma"

 
Expert Opinion on Orphan Drugs ; 3(5):577-586 ; May 2015
 
X-linked syndromes with arthrogryposis or early contractures: a review
 
Consult the Pubmed abstract
 
Am J Med Genet A. ; 167(5):931-73 ; May 2015
 
Fabry disease: two reviews
 
Consult the Pubmed abstracts
 
To read more about "Fabry disease"

 
Genet Med. ; 17(5):323-30 ; May 2015
J Med Genet. ; 52(5):353-8 ; May 2015
 
Spinocerebellar ataxia type 3: a review
 
Consult the abstract
 
To read more about "Spinocerebellar ataxia type 3"

 
Expert Opinion on Orphan Drugs ; 3(5):517-535 ; May 2015
 
Sialidosis: a review
 
Consult the Pubmed abstract
 
To read more about "Sialidosis type 1"
To read more about "Sialidosis type 2"

 
Expert Opinion on Orphan Drugs ; 3(5):491-504 ; May 2015
 
Childhood interstitial lung disease: a systematic review
 
Consult the Pubmed abstract
 
Pediatr Pulmonol. ; [Epub ahead of print] ; April 2015
 
Amyotrophic lateral sclerosis: review on emerging mechanisms of molecular pathology
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
J Clin Invest. ; 125(5):1767-79 ; May 2015
 
Duchenne muscular dystrophy: review on cardiac issues
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Circulation ; 131(18):1590-8 ; May 2015
 
Inflammatory muscle diseases: a review
 
Consult the Pubmed abstract
 
To read more about "Polymyositis"
To read more about "Dermatomyositis"
To read more about "Autoimmune necrotizing myopathy"
To read more about "Overlap myositis"
To read more about "Inclusion body myositis"

 
N Engl J Med. ; 372(18):1734-47 ; April 2015
 
One new GeneReview published
 
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. One new GeneReview has been published for:
X-Linked Dystonia-Parkinsonism

 


 
Orphan Drugs
 
Regulatory News
 
Another cystic fibrosis drug approved by the FDA advisory panel in the United States
 

A federal advisory committee on Tuesday recommended approval of a drug from Vertex Pharmaceuticals that might eventually help nearly half of patients with cystic fibrosis. This drug was developed by Vertex, who they plan to call Orkambi, is the second cystic fibrosis drug by them. This drug was deemed safe and effective enough to be approved by the advisory committee of the Food and Drug Administration (FDA) who will decide on its marketing approval by July 5. According to the manufacturers this drug works directly to counteract the genetic defect that causes the disease, rather than just treat the symptoms. It will be initially approved for approximately 8,500 patients who have two copies of the most common mutation, known as F508del, even though around 14,000 patients are in this category. FDA had expressed concerns over its modest effectiveness in improving but gave in due to the insistence by some family members and advocates to endorse the drug.
For further information

 
Political and Scientific News
 
Randomised trials will serve rare cancers patients better than controlled trials with surrogate endpoints
 
A review published in European Journal of Cancer argues in support of randomised controlled trials for rare diseases, especially rare cancers. The authors are of the view that controlled trials with surrogate endpoints are not sufficient for orphan drug development and the recent proposals by the pharmaceutical industry, patient advocates and the US FDA to lower the regulatory bar for drug approval for these lower frequency tumours are misguided in their attempt to help these patients. The authors point towards the unreliability of the surrogates and that the FDA data does not show greater difficulty in conducting randomised trials even when incidence is low. In conclusion the authors believe that “patients are not truly benefited when more drugs are approved based on weak evidence.”
Read the PubMed abstract

 
Access to therapy for Pompe disease in western Europe
 
An editorial published in Expert Review of Pharmacoeconomics & Outcomes Research examines the criteria that were used in the decisions on the "reimbursement of an orphan drug for Pompe disease and explores methods to improve the transparency and consistency of reimbursement decisions for orphan drugs in general." Alglucosidase alfa is an Enzyme replacement therapies (ERTs) for the treatment of Pompe disease, a rare metabolic disease without which patients with the infantile form will not survive their first year of life.

The authors describe the reimbursement efforts in case of Pompe disease & ERT in the Netherlands and the status of reimbursement in other European countries. According to the authors the example of ERT in Pompe disease illustrates the great variability in reimbursement decisions of orphan drugs between European countries. The authors believe that although the assessment phase could be similar in European countries, the appraisal phase is widely disparate. The authors also note that the differences in reimbursement decisions between countries that result from differences in the assessment and appraisal phase is unknown due to lack of transparency in decision-making and therefore recommend a multi-criteria decision analysis (MCDA) which "provides an explicit and systematic way of using various criteria to inform decision-making."
Read the PubMed abstract

 
Orphan medicines do not receive special status for reimbursement in Australia
 
A noteworthy study published in Expert Review of Pharmacoeconomics & Outcomes Research compared the likelihood and timeliness of reimbursement for orphan medicines and non-orphan medicines in Australia between 2005 and 2012. The authors developed two key assessment metrics to compare submissions and outcomes for new orphan medicines with those for new non-orphan medicines - "the likelihood of submissions being recommended by the Pharmaceutical Benefits Advisory Committee (PBAC) (success rate) and the time from Therapeutic Goods Administration registration to reimbursement (overall timeliness)."

The authors found that around 40% of orphan medicines, received a PBAC recommendation, which was less than non-orphan medicines as 53% of non-orphan medicines were recommended for reimbursement. The authors also demonstrated that that although the orphan medicines received its listing for reimbursement sooner than non-orphan medicines, this difference was not statistically significant. Thus from the results the authors concluded that orphan medicines do not receive special reimbursement benefits. The authors contend that whether orphan medicines deserve special status is a matter of health policy debate, but it is incongruent for the government to encourage research and development for orphan medicines and not provide avenues for its reimbursement.
Read the PubMed abstract

 
Drug repositioning can accelerate discovery of pharmacological chaperones
 
A short article published in the Orphanet Journal of Rare Diseases describes pharmacological chaperone therapy as a "promising strategy for the treatment of genetic diseases as it exploits small molecules which can be administered orally, reach difficult tissues such as the brain and have low cost." The authors postulate that drug repositioning should be run systematically for the discovery of pharmacological chaperones. To this end, the authors gathered "proteins that are associated to rare diseases, by the entries that have a link to Orphanet in Uniprot and linked them to DrugBank, a database including FDA-approved small molecules, experimental and nutraceuticals drugs and found that several Orphan proteins interact with one or more approved small molecules."
Read the open access article

 


 
Grants
 

 
AFM Telethon: Call for proposals
 
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

 
Care-for-rare science award 2015
 
The Care-for-Rare Foundation awards two prizes a year, in order to encourage young researchers to continue their research into rare diseases. The Dr. Holger Müller Prize, endowed with €5000, is awarded to individual researchers or research groups who have published an outstanding contribution to the study of rare diseases in the previous year.
For further information

 
Neuronal Ceroid Lipofuscinosis Research Award
 
For the sixth time the Foundation announces and donates the NCL Research Award. They invite medical and basic science researchers worldwide to submit innovative project proposals that are either clinically oriented or cover translational aspects of CLN3 biology which can contribute to finding a cure for juvenile NCL. We particularly encourage also submissions from scientists working in related biomedical areas such as other lysosomal storage diseases, endolysosomal cell biology and neurodegenerative disorders. Together with the existing NCL research community our goal is to move promising therapeutic avenues forward to help JNCL patients. The grant (50,000 euros) serves as seed money supporting a one year postdoctoral fellowship to help young scientists progressing CLN3 research in academia or industry. Deadline: October 31, 2015
For further information

 
Call 4 Proposals (2015): Research Osteogenesis Imperfecta (OI)
 
The aim of this call is to (co) fund projects that will generate better treatment of Osteogenesis Imperfecta. Researchers responding to this call can come from any country. A wide range of treatment or research strategies will be considered. No area will be excluded as long as the quality of life of people with OI can be improved in a tangible and sustainable manner. All disciplines that contribute to the wellbeing of people with OI are invited to join. Creation of alliances and partnerships across national boundaries and medical institutions are explicitly welcomed, especially if they inclue collaboration with a partner form The Netherlands. Application deadline: 15 July 2015.
For further information

 


 
Partnersearch, Job Opportunities
 
PhD fellowships from Kindness for Kids foundation
 
In collaboration with EuroBioBank and RD-Connect this PhD fund a PhD project that uses an in vitro experiment to help develop a new treatment in the area of rare paediatric diseases. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study. The PhD project should develop or test a new treatment, identify therapeutic targets or employ a screening platform in the area of rare paediatric diseases using in vitro experiments. The experimentations of the PhD project must be to a major extent based on samples from a biobank associated with EuroBioBank and/or RD-Connect. Further collaborations with these two initiatives are strongly encouraged. The application has to be emailed in English as pdf attachments by June 15th 2015 to Dr. Julia Barske.
 


 
Courses & Educational Initiatives
 

 
2015 1st PHENO Workshop
 
Date: 15 – 16 June 2015
Venue: Paris, France

The main goal of our workshop is to promote the use of behavioral approaches in translational research projects. Studying behavior in vivo is fundamental to characterize new disease models and evaluate drug efficacy at a functional level, leading to improvement in diagnosis and treatment.
For more information.

 
2015 Genodermatoses Network Training Session
 
Date: 19 June 2015
Venue: Lasi, Romania

This training session is aimed at Health care providers including physicians -such as dermatologists, pediatricians, neonatologists- researchers, students, residents and others who can work together in the field of genodermatology. Topics will include discussions around ectodermal dysplasia, epidermolyisis bullosa, ichtyosis, neurofibromatosis, netherthon syndrome, nevus comedonicus, porphyria, tuberous sclerosis.
Visit the Genodermatoses website for more information.

 
Genetics of intellectual disability: an update
 
Date: 25 – 27 June 2015
Venue: Braga, Portugal

The aim of this course is to provide an update on the genetic basis of intellectual disability (ID). ID is a prominent feature in a large and heterogeneous set of hereditary conditions. This course is planned for a target audience of Pediatricians, Pediatric Neurologists, Pediatric Psychiatrists, Medical Geneticists, Psychologists, Family doctors, and graduate students in the fields of Neurosciences and Genetics. Other health professionals are also welcome. The course idiom will be English.
For more information.

 
3rd radiz Rare Diseases Summer School
 
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
For more information.

 
Workshop on haemophilia registries
 
Date: 1 -2 July 2015
Venue: London, United Kingdom

The aim of this workshop will be to identify strengths and weaknesses of registries from the perspective of providing safety and efficacy data on products, and to consider approaches/initiatives to strengthen this.
For more information.

 
The 2nd Biennial Australian Rare Lung Disease Short Course
 
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA).
For further information or to register please visit: www.lungfoundation.com.au.

 
Courses offered by Recordati Rare Diseases Foundation
 
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
Date: 24-26 June 2015
Venue: Paris, France

in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
Registration deadline: 13th May

Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

in partnership with Bambino Gesù Children’s Hospital, Rome
Registration deadline: 27th August

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September

 


 
What's on Where?
 

 
The European Human Genetics Conference 2015
 
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

 
34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
 
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

 
22nd International Meeting of the Pediatric Colorectal Club 2015
 
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

 
International Myotonic Dystrophy Consortium Meeting (IDMC)
 
Date: 8-12 June, 2015
Venue: Paris, France

This consortium will bring together not only scientists and clinicians but also family associations and patients.
For further information

 
3rd ELA Scientific Congress
 
Date: 24-26 June, 2015
Venue: Paris, France

Speakers with expertise in leukodystrophies, myelin biology, neuroimaging, stem cell research and gene therapy will participate to the congress 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 information

 
Tourette Syndrome Congress 2015
 
Date: 24-26 June, 2015
Venue: London, UK

The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for linicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionslas with an interest in current research, diagnosis and treatment of these and related conditions.
For further information

 
7th International Conference on Children’s Bone Health
 
Date: 27-30 June, 2015
Venue: Salzburg, Austria

The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
The call for abstracts opens in September 2014.
Abstract deadline: 6 February 2015.
For further information

 
Orphan Drugs & Rare Diseases Global Congress
 
Date: 29 June- 1 July, 2015
Venue: London, United Kingdom

This conference provides a unique platform for an intimate & interactive knowledge sharing and convergence of top tier government, pharmaceuticals, biopharmaceuticals, hospitals, non-profit organisations, orphan drugs developers as well as regional and local manufacturers to discuss the driving macroeconomic factors, policies and issues that will steer the development of orphan drugs globally.
For further information

 
The First Russian Congenital Aniridia Conference
 
Date: 3-4 July, 2015
Venue: Moscow, Russia

The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
For further information

 
10th European Cytogenetics Conference
 
Date: 4-7 July, 2015
Venue: Strasbourg, France

The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further information

 
4th Congress on Mitochondrial Medicine
 
Date: 9-10 July, 2015
Venue: Salzburg, Austria

The meeting addresses the importance of mitochondrial pathology in neurology, pediatrics and beyond. An overview on the newest research developments and important clinical aspects will be provided. Deadline for the submission of scientific abstracts is May 15th and for early registration is June 1st.
For further information

 
10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine
 
Date: 7-11 July, 2015
Venue: Nancy, France

The conference will deal with a very interdisciplinary program joining leading scientists from biochemical, experimental and clinical medical area. It will cover the most advanced research on One Carbon Metabolism, Homocysteine and related coenzymes and vitamins, including folate, vitamin B12 (cobalamins), vitamin B6 (pyridoxine) and choline in the fields of biochemistry, metabolism, nutrition, epidemiology and experimental and clinical medicine.
For further information

 
Genetic Alliance UK Annual Conference 2015
 
Date: 14 July, 2015
Venue: London, United Kingdom

The day will be a celebration of what they, as an alliance of member organisations, have collectively achieved over the past 25 years to make a difference to all those affected by genetic conditions.
For further information

 
4th International RASopathies Symposium
 
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

 
Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
 
Date: 23-26 July, 2015
Venue: Missouri, US

The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
For further information

 
International VHL Symposium for young adults
 
Date: 30 July – 3 August, 2015
Venue: Utrecht, The Netherlands

The aim of the event is to create the opportunity to network and share global experiences with VHL. Another important part of the programme is designed to increase age-specific VHL-related knowledge.
For further information

 
SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation
 
Date: 28-30 July, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

 
SSIEM Annual symposium
 
Date: 1-4 September, 2015
Venue: Lyon, France

For further information

 
26th European Dysmorphology Meeting
 
Date: 9-10 September, 2015
Venue: Le Bischenberg, France

The principal aim of this meeting has been to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development.
For further information

 
DEBRA International Conference & EBCLINET
 
Date: 24-26 September, 2015
Venue: London, United Kingdom

The 3rd conference of EB-CLINET is open to all network partners as well as other interested people who would like to gain a better understanding of the condition, the network and/or contribute to improving the medical care or the quality of life for those affected by EB.
For further information

 
Tyrosinemia 2015
 
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

 
The PANDAS 2015
 
Date: 26 September, 2015
Venue: Lake Como, Italy

Presentations of the latest scientific advances in the diagnosis and treament of PANS/PANDAS shall include topics touching immunology, rheumatology, neurology, child psychiatry, psychology and more.
For further information

 
8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
 
Date: 30 September – 3 October, 2015
Venue: Dresden, Germany

This meeting will offer numerous opportunities to convene with experts on FMF and other auto-inflammatory diseases. This meeting hopes to welcome more than 400 participants from all over the world to discuss the latest scientific and clinical developments, including new treatment options.
For further information

 
Annual joint DIA/EFGCP/EMA Better Medicines for Children Conference
 
Date: 1-2 October, 2015
Venue: London, UK

This year’s DIA/EFGCP/EMA annual paediatric conference will focus on ways to overcome challenges faced during drug development for the paediatric population, such as through collaboration, extrapolation, modelling & simulation and adaptive pathways.
For further information

 
2nd conference on European Reference Networks
 
Date: 8 – 9 October, 2015
Venue: Lisbon, Portugal

This conference will bring together highly specialised healthcare providers, experts, national authorities, decision–makers, and independent bodies with experience in the assessment and evaluation of healthcare providers.
For further information

 
47th Congress of the International Society of Paediatric Oncology
 
Date: 8 – 11 October, 2015
Venue: Cape Town, South Africa

This stimulating scientific programme will facilitate the exchange of ideas and information in paediatric oncology.
For further information

 
The AANEM Annual Meeting
 
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
For further information

 
First European Congress on Hereditary ATTR amyloidosis ECATTR
 
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
For further information

 
2nd International Primary Immunodeficiencies Congress (IPIC)
 
Date: 5-6 November, 2015
Venue: Budapest, Hungary

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC, attended by 400 participants. The congress will consist of a two-day programme and is open to all stakeholders with an interest in clinical management of primary immunodeficiencies (PIDs).
For further information

 
16th International Conference on Human Genome Variation and Complex Genome Analysis
 
Date: 11-13 November, 2015
Venue: California, United States

HGV2015 will bring together approximately 180 delegates (selected on the basis of their abstract submission) in a workshop-style atmosphere, with 25 internationally recognized speakers
For further information

 
International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
 
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

 
MYOLOGY 2016 Fifth International Congress of Myology
 
Date: 14-18 March, 2015
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
For further information

 
13th International Congress of Human Genetics (ICHG) 2016
 
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities.
Registrations open in 2015.
For further information

 
ESID European Society for Immunodeficiencies: Biennial meeting
 
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information

 

Commercial events

 
Orphan Drugs Access & Economics Masterclass
 
Date: 9 - 10 June, 2015
Venue: Berlin, Germany

You will hear about EU regulation, programmes and mechanisms, adaptive licensing, methods for economic evaluation, alternative ways to raise funds and finance orphan drugs, pricing and reimbursement models.
For further information

 
Orphan Drugs Summit 2015
 
Date: 17-18 September, 2015
Venue: Copenhagen, Denmark

This conference will bring together different groups of stakeholders on specifically selected topics to help them build relationships and reach their goals.

 


 
OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
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