3 February 2015 print
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Extension of the 2nd National Plan for Rare Diseases in France

The announcement of the extension of the 2nd National Plan for Rare Diseases (PNMR2) 2011-2014 was made at the last meeting of the Plan Monitoring and Foresight Committee on December 17, 2014. This plan will be extended until the end of 2016. The goal of this extension is to complete and implement actions that are late or need to be consolidated. This extension also involves an evaluation of PNMR2 prior to any decision for the introduction of a third plan.

Work programme
The 2015 work programme includes plans to develop or consolidate actions that have already commenced. This year will be devoted to the development of the sectors and the definition of monitoring indicators and its evaluation. Reorganisation of the Rare Disease Reference Centre and a new labelling process will be implemented. The business and operations of the Rare Disease Reference Centre will continue to be measured through annual activity reports, such as the one presented in 2014. These evaluations will provide objective data to facilitate the award of grants tailored to the actual activity of the Rare Disease Reference Centre. The first phase of activities of the National Bank of Rare Diseases Data, formerly BaMaRa, will be released as soon as the authorisation by the National Commission for Information and Liberties is obtained. The expert group on the implementation of the codification of rare diseases with Orphacodes will continue, with results expected in late 2015. The Orphanet database will continue to be supported by the Directorate General of Health to produce information on rare diseases, as well as creating and updating Orphacodes.

A working group to define a national doctrine on deploying high-throughput sequencing techniques within healthcare institutions will be set up at the beginning of the year.

Evaluation of PNMR2
The PNMR2 will be subject to an assessment conducted jointly by the High Council for Public Health and the High Council of Research Evaluation and Higher Education. This assessment is designed to measure the effectiveness and impact of the measures of the Plan and its two main components, health and research. A first meeting between the two institutions to identify indicators to measure and evaluate PNMR2 will take place in December 2015, where the project managers involved in the Plan will present the results.
For further information in french

EU Policy News
Public consultation on application of transparency rules of EU Clinical Trial Regulation
The European Clinical Trial Regulation aims to ensure consistency in conducting clinical trials throughout the EU as well as brings a great amount of transparency to the clinical trial process by making information publicly available. The Regulation will apply to clinical trials that are registered once the Regulation is in operation. A public consultation on how the transparency rules of the European Clinical Trial Regulation will be applied in the new clinical trial database is launched by the European Medicines Agency (EMA) today. Stakeholders are invited to send their comments before 18 February 2015. This document asks stakeholders to review and comment on the proposals laid out by the EMA to bring expanded transparency to the clinical trial process in the EU.
Stakeholders are invited to send comments using this template to CTReg@ema.europa.eu by close of business on 18 February 2015.
For further information


National & International Policy Developments
Amendments passed on rare disease care, homes in Taipei, Taiwan
The legislature in Taiwan has recently made amendments to the Rare Diseases Prevention and Medication Act and the Nursing Personnel Act which aim to provide additional assistance for rare disease patients. The changes to the act were made to guarantee the government’s financial backing of supportive and palliative care for people with rare diseases that are not covered by the National Health Insurance (NHI) in Taiwan. These amendments will ensure services, such as psychological support and birth care, are continually provided for patients and their families. The amendments were also geared towards accelerating the review process for medications needed by patients to be covered by the NHI, as well as to establish an emergency drug supply mechanism to combat drug shortages.
Read the news in Taipei Times
For more information go to the Taiwan Foundation of Rare Diseases website

Other European news
Deciphering Developmental Disorders project
The Deciphering Developmental Disorders (DDD) project is the first nationwide study established in the UK to find if the usage of cutting edge genetic technology can lead to an increase in the rates of genetic diagnosis and at the same time help doctors understand why certain patients are susceptible to developmental disorders. Additionally, the project addresses whether and how genomic findings should be shared with individual research participants - a topic that is of intense international debate due to the underlying ethical implications. Jointly funded by the Health Innovation Challenge Fund and the Wellcome Trust Sanger Institute, and supported by the NHS National Institute for Health Research, this study brought together doctors throughout UK to collect high-resolution genomic and phenotypic data for children with severe undiagnosed developmental disorders and their parents. The success of this transformative venture has been shown in recent publications of 2 high quality articles in Nature and The Lancet.

In the Lancet, the authors have described the process for finding and returning pertinent diagnoses in the first ~1000 families enrolled in the DDD project. The authors show that although resource requirement is substantial for a clinical reporting system, “implementation of a robust translational genomics workflow is achievable within a large-scale rare disease research study to allow feedback of potentially diagnostic findings to clinicians and research participants”.

Following this, the article published in Nature showed how these researchers were able to identify 12 new genes that were strongly linked with developmental disorders in 35 patients, from the project. This was possible by studying the genetic make-up of 1133 children and the parents, recruited in the DDD project, by using cutting edge genomic technology such as exome sequencing and array based detection of chromosomal rearrangements. These newly implicated genes boost diagnosis rates of the children by 10%. The authors stress the value of a genomic approach in addition to the traditional, phenotypic driven approach to clinical discovery of new subgroups of disease, especially for "conditions that show very variable or nonspecific features".

The DDD study will continue to recruit throughout the UK and Ireland until April, 2015, aiming to reach 12 000 patients. They emphasise that their findings underscore the importance of data sharing, and urge the international sharing of minimal genotypic and phenotypic data’ as typified by the DECIPHER web portal to drive further expansion of genetic causes of developmental disorder.
Visit Deciphering Developmental Disorders project website
Expansion of newborn screening in England
The panel of conditions tested for at birth in England will now include four new rare genetic metabolic conditions: maple syrup urine disease, homocystinuria, glutaric acidaemia type 1 and isovaleric acidaemia. They join the previous panel of five disorders, phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). According to the Public Health England (PHE), since these new conditions are very rare they expect only small numbers of cases to be found each year through screening. However, the PHE stress that if these conditions are detected quickly, medical interventions can be made to prevent or reduce the harm wrought by untreated conditions, preventing severe brain damage or death in many cases. The PHE announced this decision last May and while England has already commenced wider screening, Wales is due to begin this month, and no decision has been made for Scotland and Northern Ireland.
Go to the NHS website on newborn screening

Other International News
Institute of Medicine of the United States pushes companies to share clinical trial data: Johnson & Johnson complies
The Institute of Medicine (IOM) of the National Academy of Sciences has recently published a report recommending government agencies and companies to share data from research studies that they fund. The report sets out several steps that clinical trial sponsors are encouraged to take in order to widen access. These include developing specific plans for sharing data, such as granting access through third-party web sites; and adopting recommended timetables for releasing both summary and complete data packages after studies have been finished and published. The report suggests that summary level results should be publicly available no later than 1 year after a trial has been completed. Also, a complete data package, which includes the full protocol and statistical analysis plan, among other things, should be shared no later than 18 months after a study is completed.

The AllTrials campaign commends this report but thinks that its "recommendations could have been stronger if they included clear pathways to implementation and calls for audits of compliance".

In related news, the health care giant Johnson & Johnson has agreed to make detailed clinical trial data on its medical devices and diagnostic tests available to outside researchers through a collaboration with Yale University, making it the first large device manufaturer to systematically make such data public. The announcement came on the same day that the IOM called on all sponsors of clinical trials to share detailed study data with outside researchers and recommended that such data be made available within 30 days of a product’s approval.
Read the report by Institute of Medicine
Read the Press Release by AllTrials

Incidental findings in families enrolled in the NIH Undiagnosed Diseases Program in the United States
A study published by researchers at the US National Institute of Health (NIH) in Genetics in Medicine reported on the number of incidental findings that were discovered in 159 families belonging to the NIH Undiagnosed Diseases Program. The authors utilised exome sequencing to “evaluate the number and inheritance mode of reportable incidental sequence variants”. Following the American College of Medical Genetics and Genomics (ACMGG) recommendations for reporting of incidental findings from next-generation sequencing, the authors extracted variants in 56 genes from the exome sequence data of 543 subjects and determined the reportable incidental findings for each participant. They identified 14 independent reportable variants in 159 (8.8%) families. Although their results are consistent with the expectation that a small percentage of exomes will result in identification of an incidental finding under the ACMGG recommendations, this study found a higher percentage of families requiring the reporting of incidental findings, compared to previous accounts.
Read the PubMed abstract

Guidance Documents and Recommendations
Guidelines for diagnostic next generation sequencing

EuroGentest have been drafting guidelines for diagnostic next generation sequencing (NGS). This was an initiative, taken in the context of EuroGentest but many other colleagues have contributed to the discussions and the final document. Additionally they invited the EuroGentest members and other interested professionals to comment on the guidelines. The Final Draft was available for comment from Dec 2, 2014 to Dec 14, 2014. EuroGentest will integrate the comments and suggestions provided, after which the document will be sent to the ESHG Board for endorsement before making it public.

Among other statements, the guideline delivers three major definitions: “diagnostic utility”, “quality scoring for NGS tests”, and “reportable range”. EuroGentest believe that defining the ‘diagnostic utility’ of the NGS test is the laboratory’s first duty when preparing to offer diagnostic NGS. The novel scoring system provided by EuroGentest for the different NGS assays depends on quality and comprehensiveness. With this system, referring physicians, patients, and stakeholders in the health system will be enabled to compare different tests offered at the market. EuroGentest proposes 3 percentages of ‘reportable range’ depending on the reference which will allow comparisons between individual results within runs, between tests and between laboratories. The guidelines propose a generic template for reporting NGS results as well. While dealing with informed consent, unclassified variants and unsolicited findings, again from the laboratory standpoint, is already addressed in aforementioned published guidelines, the distinction of diagnostic and research is a very relevant topic when it comes to the “duty to recontact”.
Read the final draft

Revision of the 2005 NIH Chronic graft-versus-host disease Consensus Criteria
Chronic graft-versus-host disease (GVHD) is a syndrome of variable clinical features resembling autoimmune and other immunologic disorders such as scleroderma, Sjögren’s syndrome, primary biliary cirrhosis, wasting syndrome, bronchiolitis obliterans, immune cytopenias, and chronic immunodeficiency. Manifestations of chronic GVHD may be restricted to a single organ or site or may be widespread, with profound impact on quality of life. It remains a serious and common complication of allogeneic hematopoietic cell transplantation (HCT), occurring in 30% to 70% of patients. A revision of the 2005 NIH Chronic GVHD Consensus Criteria is now published in the Biology of Blood and Marrow Transplantation

The consensus guidelines for assessment of chronic GVHD severity summarised in this document can be used in making decisions about treatment and enrollment in clinical trials. The goals of treatment for chronic GVHD are to relieve symptoms, control disease activity, and prevent damage and disability.
Read the PubMed abstract

Mucopolysaccharidosis type 4A: international guidelines for the management and treatment
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 4A"

Am J Med Genet A. ; 167(1):11-25 ; January, 2015
Mucopolysaccharidosis type 4: consensus recommendations for early identification and effective management
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 4"

Mol Genet Metab. ; 114(1):11-18 ; January, 2015
Bioinformatics, Registries and Data Management
Drugnet: a novel drug repurposing webtool
To aid drug repurposing, a topic of considerable interest among the rare disease researchers, the authors of an article published in Artificial Intelligence in Medicine have described a novel web tool developed by them – Drugnet. The authors “built a network of interconnected drugs, proteins and diseases and applied DrugNet to different types of tests for drug repositioning”. Their work is based on the principle that biological entities are intricately networked as well as dynamic and heterogeneous. The web tool can be accessed at http://genome2.ugr.es/drugnet/, where queries for drug-disease or disease-drug prioritisations can be made. Drugnet then provides a list of ranked drugs (active substance not trade names) based on a given disease or provides a ranked list of diseases (possibly new indications that can be pursued) for a drug query. According to the authors, Drugnet was able to “identify previously unknown drug applications extremely reliably in real situations and so these methods may potentially save a large amount of resources in the drug development pipeline”. The authors believe that usage of Drugnet could potentially bring respite for patients with no treatment, especially rare disease patients, sooner as the identified drugs have already been shown to be safe and tolerable.
Read the abstract

PIN for ranking candidate genes
An article published in the American College of Medical Genetics and Genomics describe “a genetic network–based method to rank candidate genes identified in family-based sequencing studies (as the) identification of additional individuals suffering from the same disorder can be difficult because of rarity and phenotypic heterogeneity”. They termed this network phenotype informed network (PIN) ranking and provide evidence that this method is capable of identifying the correct disease-causative gene in a majority of cases. They also present a case study as an extension of the PIN ranking method in which disease symptoms drive the network ranking and identification of the disease-causative gene. PIN-rank is available at https://genomics.scripps.edu/pinrank/. The authors believe that PIN will help in “prioritising candidate disease-causative genes based on symptoms that would be useful for both the prioritization of candidates and the identification of additional subjects”.
Read the open access article

SeqHBase: efficient and scalable web tool for analysing family based whole exome data
An article published in the Journal of Medical Genetics recommends SeqHBase, another web-based tool, for analysing big datasets that are typically created by whole genome or exome sequencing on families with apparent diseases to detect disease-causing mutations. SeqHBase leverages Hadoop, which scales large datasets reliably, and HBase, which can host large amounts of data (millions of rows, billions of columns) to extract variant, variation and coverage (depth) information efficiently. Evaluation of the efficiency and scalability of SeqHBase was shown by the quick turnover of results, and the detection of de novo, inherited homozygous or compound heterozygous mutations that may be disease-contributing based on 4, 5 and 10 member family data. SeqHBase is freely available for use by academic or non-profit organisations at http://seqhbase.omicspace.org/. Source code of SeqHBase can be downloaded after obtaining a license agreement with Marshfield Clinic Applied Sciences.
Read the open access article

Analysis of baseline data by European Friedreich’s Ataxia Consortium for Translational Studies cohort
In the Lancet Neurology, Reetz et al., report a cross-sectional analysis of baseline data for European patients with Friedreich’s ataxia. The investigators of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort, have created a collaboration of 11 institutions across seven countries. In this report the authors present the primary characterisation of the neurological features of 592 patients with Friedreich’s ataxia enrolled between 2010-2013, as assessed by the Scale for the Assessment and Rating of Ataxia (SARA), performance measures and composites, compilations of non-ataxic features, and quality-of-life measures. Using cross-sectional analysis, the authors produced estimates of progression for each of these measures, were most sensitive for the objective tests, particularly SARA. The authors reported that patients with early-onset disease progressed fastest, followed by those with intermediate-onset disease, with patients who had late–onset disease progressing more slowly. The results of this cross-sectional baseline analysis of the EFACTS cohort suggest that earlier disease onset is associated with larger numbers of GAA repeats and more rapid disease progression. Despite certain limitations of this study, the results represent a step forward in the clinical characterisation of Friedreich’s ataxia. The authors believe that these approaches should enable new treatments for Friedreich’s ataxia to move towards clinical practice.
Read the abstract
Visit the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) website


Ethical, Legal & Social Issues
10 components to navigate the rare disease research roadmap
In an article published in Health Policy and Technology, Bellgard and colleagues outline ten components that are necessary in translational research for rare diseases. According to the authors, attention to these 10 components provides a comprehensive approach to further the field of translational research in rare disease. These 10 components include client– practitioner partnerships, disease registries, biobanks, omics platforms, community-based and population wide studies, bioinformatics and high performance computing, interactions with pharma, personalised treatments, eHealth, and regulatory frameworks. The authors provide an overview of these components of the “rare disease research roadmap”, the challenges faced while navigating the components as well as the “way forward”.
Read the abstract

Will constructing a meaning from experiences help when dealing with rare disease diagnosis?
Dealing with the diagnosis of a rare disease can have a significant psychological impact on patients and families. An article published in the Journal of Genetic Counselling has discussed the utility of constructing meaning from experiences for positive adaptation, which has been used in contemporary grief counselling, in the genetic counselling scenario. The author believes that the negative experiences of isolation and hopelessness can be countered by providing education and psychosocial support as well as enabling patientsand families with rare genetic disorders with meaning-making strategies. In this paper the author explores the background of meaning-making counselling strategy and describes an experience in which it was used for counselling a family with a child with Mowat-Wilson syndrome. The author believes that meaning making can be another tool for genetic counsellors to help guide families in their grief and adaptation to rare disease diagnoses.
Read the PubMed abstract

Measuring the value of orphan drugs in the Canadian society
Illustrated in an article published in the Patient are two factors that make the measurement of societal value of orphan drugs particularly difficult in Canada. These challenges were demonstrated by surveying 2,005 Canadian adults where respondents chose between funding the treatment of patients suffering from either rare or common diseases. The authors report that "the respondents were more likely to display choice aversion and unstable preferences if they had not completed a university degree and when a ‘zero-sum’ frame was used to introduce the choice sets". The authors believe that studies in which the stated opportunity costs of funding orphan drugs focus exclusively on reductions in funding for other drugs or treatments may only provide a limited understanding of citizens’ policy preferences in the area of rare diseases.
Read the PubMed abstract

Genodermatoses Network organises an international art contest
On the occasion of the 2015 Rare Disease Day, the Genodermatoses Network is organising an international art contest in order to raise awareness about rare skin diseases and to allow people to express their feelings about this issue in a different way. The theme of the drawings should be “Under your skin”. For more information on the contest visit the Genodermatoses Network website.

New Syndromes

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to LBR mutations
The authors described a boy with an anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia. He was shown to have compound heterozygous mutations of LBR. He shared many similarities with a case previously described in 2013.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(1):159-63 ; January, 2015
Novel phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein due to CRB2 mutations
The authors reported on five fetuses and a child from three families who shared a phenotype resembling congenital nephrosis, Finnish type, comprising cerebral ventriculomegaly and raised alpha-fetoprotein. Mutations in CRB2 were found in the patients.
Consult the Pubmed abstract

Am J Med Genet A. ; 96(1):162-9 ; January, 2015
Acquired bilateral telangiectatic macules: a distinct clinical entity
13 distinct patients with multiple telangiectatic pigmented macules confined mostly to the upper arms were evaluated. The clinical and histopathologic features of these lesions were relatively consistent in all patients, and were quite distinct from other diseases. The authors suggested the name acquired bilateral telangiectatic macules for this new entity.
Consult the Pubmed abstract

JAMA Dermatol. ; 150(9):974-7 ; September 2014
Short stature, short neck, vertebral anomalies, Sprengel deformity, and intellectual disability in two unrelated girls
The authors reported on two unrelated girls with prenatal onset short stature, short neck, cervical vertebral anomalies, Sprengel deformity, and mild intellectual disability. To their knowledge, the phenotype reported has not been described previously, and may represent a new rare syndromic form of Klippel-Feil anomaly.
Consult the Pubmed abstract

Eur J Med Genet. ; 58(1):47-50 ; January, 2015

New Genes

CODAS syndrome is associated with mutations of LONP1 in ten individuals
Consult the Pubmed abstract
To read more about "CODAS syndrome"

Am J Hum Genet. ; 96(1):121-35 ; January, 2015
3q26.32 microdeletion syndrome with intellectual disability and dysmorphism due to TBL1XR1 deletion
Consult the Pubmed abstract
To read more about "3q26q27 microdeletion syndrome"

Am J Med Genet A. ; 167(1):164-8 ; January, 2015
Nephronophthisis-associated ciliopathy caused by DCDC2 mutations
Consult the Pubmed abstract
To read more about "Nephronophthisis-associated ciliopathy"

Am J Hum Genet. ; 96(1):81-92 ; January, 2015
Familial idiopathic steroid-resistant nephrotic syndrome due to defects in CRB2 in four families
Consult the Pubmed abstract
To read more about "Familial idiopathic steroid-resistant nephrotic syndrome"

Am J Hum Genet. ; 96(1):153-61 ; January, 2015
Klippel-Feil syndrome and Treacher-Collins syndrome: POLR1D mutation found in a father and his two daughters
Consult the Pubmed abstract
To read more about "Isolated Klippel-Feil syndrome"
To read more about "Treacher-Collins syndrome"

Am J Med Genet A. ; 167(1):95-102 ; January, 2015
2q37 microdeletion syndrome linked to TWIST2 deletion in a family
Consult the Pubmed abstract
To read more about "2q37 microdeletion syndrome"

Am J Med Genet A. ; 167(1):185-9 ; January, 2015
Mitochondrial myopathy and sideroblastic anemia associated with a de novo mutation in ATP6
Consult the Pubmed abstract
To read more about "Mitochondrial myopathy and sideroblastic anemia"

Mol Genet Metab. ; 113(3):207-12 ; November 2014
Lower motor neuron syndrome with late-adult onset caused by mutation in CHCHD10
Consult the Pubmed abstract
To read more about "Lower motor neuron syndrome with late-adult onset"

Ann Neurol. ; 77(1):163-72 ; January, 2015
Deficiency in anterior pituitary function-variable immunodeficiency syndrome linked to mutations in NFKB2 in four families
Consult the Pubmed abstract
To read more about "Deficiency in anterior pituitary function-variable immunodeficiency syndrome"

BMC Med Genet. ; 15(1):139 ; December 2014
Ataxia–deafness Lichtenstein-Knorr syndrome associated with a homozygous mutation in SLC9A1 in a large consanguineous family
Consult the Pubmed abstract
Hum Mol Genet. ; 24(2):463-70 ; January, 2015
Isolated cytochrome C oxidase deficiency caused by mutations in COA6 in one patient
Consult the Pubmed abstract
To read more about "Isolated cytochrome C oxidase deficiency"

Hum Mutat. ; 36(1):34-8 ; January, 2015
Cushing disease due to somatic mutations in USP8
Consult the Pubmed abstract
To read more about "Cushing disease"

Nat Genet. ; 47(1):31-8 ; January, 2015
Progressive myoclonic epilepsy caused by a recurrent de novo mutation in KCNC1
Consult the Pubmed abstract
To read more about "Progressive myoclonic epilepsy"

Nat Genet. ; 47(1):39-46 ; January, 2015
Temple-Baraitser syndrome linked to de novo mutations in KCNH1 in six individuals
Consult the Pubmed abstract
Nat Genet. ; 47(1):73-7 ; January, 2015
Lymphomatoid papulosis and primary cutaneous anaplastic large cell lymphoma associated with a novel recurrent NPM1-TYK2 gene fusion
Consult the Pubmed abstract
To read more about "Lymphomatoid papulosis"
To read more about "Primary cutaneous anaplastic large cell lymphoma"

Blood ; 124(25):3768-71 ; December 2014
Pituitary stalk interruption syndrome could be linked to homozygous GPR161 mutation in a family
Consult the Pubmed abstract
To read more about "Pituitary stalk interruption syndrome"

J Clin Endocrinol Metab. ; 100(1):E140-7 ; January, 2015
Congenital cranial dysinnervation disorder may be caused by recessive mutations in COL25A1
Consult the Pubmed abstract
Am J Hum Genet. ; 96(1):147-52 ; January, 2015
Strong genetic evidence of an association of systemic-onset juvenile idiopathic arthritis with a mutation in LACC1
Consult the Pubmed abstract
To read more about "Systemic-onset juvenile idiopathic arthritis"

Arthritis Rheumatol. ; 67(1):288-95 ; January, 2015
Narcolepsy-cataplexy: HLA-DPB1 identified as a new susceptibility variant
Consult the Pubmed abstracts
To read more about "Narcolepsy-cataplexy"

Am J Hum Genet. ; 96(1):136-46 ; January, 2015
Hum Mol Genet. ; 24(3):891-8 ; February 2015
Pseudoxanthoma elasticum: ALP, ENPP1 and ANKH variants are important risk factors
Consult the Pubmed abstract
To read more about "Pseudoxanthoma elasticum"

Clin Biochem. ; 47(15):60-7 ; October 2014
Genetic predisposition to papillary or follicular thyroid carcinoma: involvement of TSHR and PTCSC2
Consult the Pubmed abstract
To read more about "Papillary or follicular thyroid carcinoma"

J Clin Endocrinol Metab. ; 100(1):E164-72 ; January, 2015

Research in Action
Clinical Research
Phenylketonuria: prolonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Mol Genet Metab. ; 114(1):19-24 ; January, 2015
Gaucher disease type 3: enzyme replacement therapy improved the systemic manifestations but was not able to counteract the progression of neurological symptoms
Consult the Pubmed abstract
To read more about "Gaucher disease type 3"

Mol Genet Metab. ; 113(3):213-8 ; November 2014
Lesch-Nyhan syndrome: intrathecal baclofen therapy ameliorated the motor and behavioural symptoms in three patients
Consult the Pubmed abstract
To read more about "Lesch-Nyhan syndrome"

Orphanet J Rare Dis. ; 9:208 ; December 2014
Charcot-Marie-Tooth disease type 1A: efficacy and safety of PXT3003, a low-dose combination of baclofen, naltrexone and sorbitol
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Charcot-Marie-Tooth disease type 1A"

Orphanet J Rare Dis. ; 9(1):199 ; December 2014
Myasthenia gravis: thymectomized patients have a higher probability of achieving remission compared to controls
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

Orphanet J Rare Dis. ; 9(1):2 ; December 2014
Kearns-Sayre syndrome: early high-dose folinic acid therapy seems to be advisable
Consult the Pubmed abstract
To read more about "Kearns-Sayre syndrome"

Orphanet J Rare Dis. ; 9(1):3 ; December 2014
Mycosis fungoides and Sézary syndrome: lack of durable disease control with chemotherapy
Consult the Pubmed abstract
To read more about "Classical mycosis fungoides"
To read more about "Sézary syndrome"

Blood ; 125(1):71-81 ; January, 2015
Bile acid CoA ligase deficiency and defective amidation: glycoholic acid therapy improves growth and fat-soluble vitamin absorption in children
Consult the Pubmed abstract
To read more about "Bile acid CoA ligase deficiency and defective amidation"

Hepatology ; 61(1):268-74 ; January, 2015
Hemophilia B: weekly prophylaxis with nonacog beta pegol was well tolerated and was associated with low bleeding rates
Consult the Pubmed abstract
To read more about "Hemophilia B"

Blood ; 124(26):3880-6 ; December 2014
Duchenne muscular dystrophy: addition of eplerenone to background therapy attenuates the progressive decline in left ventricular systolic function
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Lancet Neurol. ; S1474-4422(14)70318-7 ; December 2014
Multiple system atrophy, parkinsonian type: treatment with rasagiline did not show a significant benefit
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Multiple system atrophy, parkinsonian type"

Lancet Neurol. ; S1474-4422(14)70288-1 ; December 2014
Multiple endocrine neoplasia type 1: percutaneous ethanol ablation is an effective treatment option for achieving normocalcemia in the majority of patients
Consult the Pubmed abstract
To read more about "Multiple endocrine neoplasia type 1"

J Clin Endocrinol Metab. ; 100(1):E87-90 ; January, 2015
Osteosarcoma: mixed efficacy of sorafenib and everolimus treatment
Consult the Pubmed abstract
To read more about "Osteosarcoma"

Lancet Oncol. ; S1470-2045(14)71136-2- ; December 2014
Small cell lung cancer: thoracic radiotherapy in addition to prophylactic cranial irradiation should be considered for all patients who respond to chemotherapy
Consult the Pubmed abstract
To read more about "Small cell lung cancer"

Lancet ; 385(9962):36-42 ; January, 2015
Papillary or follicular thyroid carcinoma: vemurafenib is a potentially effective and safe treatment strategy in patients harboring the BRAFV600E mutation
Consult the Pubmed abstract
To read more about "Papillary or follicular thyroid carcinoma"

J Clin Endocrinol Metab. ; 100(1):E77-81 ; January, 2015
Relapsed multiple myeloma: the addition of carfilzomib to lenalidomide and dexamethasone improves progression-free survival
Consult the Pubmed abstract
Consult this Belgium study on Orphanet
Consult this Spanish study on Orphanet
Consult this UK study on Orphanet

To read more about "Multiple myeloma"

N Engl J Med. ; 372(2):142-52 ; January, 2015
Burkitt lymphoma: improved outcomes with rituximab and chemotherapy
Consult the Pubmed abstract
To read more about "Burkitt lymphoma"

Blood ; 124(26):3870-9 ; December 2014
Therapeutic Approaches

Hypophosphatasia: improvement of skeletal and dental manifestations by administration of soluble intestinal-like chimeric alkaline phosphatase in model mice
Consult the Pubmed abstract
To read more about "Hypophosphatasia"

Bone ; 72:137-47 ; March 2014
Harlequin ichthyosis: the over-expression of interleukin-37b, which suppresses fetal inflammation, improves keratinocyte differentiation in mouse models
Consult the Pubmed abstract
To read more about "Harlequin ichthyosis"

Hum Mol Genet. ; 24(2):436-49 ; January, 2015
Huntington disease: reduction of ATM signaling ameliorates mutant Huntingtin toxicity in cell and animal models
Consult the Pubmed abstract
To read more about "Huntington disease"

Sci Transl Med. ; 6(268):268ra178 ; December 2014
Friedreich ataxia: bone marrow mesenchymal stem cell transplantation improves motor function and decreases neurodegeneration in model mice
Consult the Pubmed abstract
To read more about "Friedreich ataxia"

Mol Ther. ; 23(1):130-8 ; January, 2015
Diagnostic Approaches

Prader-Willi syndrome: prenatal genetic screening is indicated when any combination of polyhydramnios, small for gestational age or asymmetric intrauterine growth is present
Consult the Pubmed abstract
To read more about "Prader-Willi syndrome"

Am J Med Genet A. ; 167(1):80-5 ; January, 2015
Recognition of early onset obesity as a feature of the imprinting center and uniparental disomy classes Angelman syndrome should lead to earlier diagnosis
Consult the Pubmed abstract
To read more about "Angelman syndrome"

Am J Med Genet A. ; 167(1):142-6 ; January, 2015
Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome: delineation of clinical findings that may allow differentiation between both conditions, such as facial dysmorphia
Consult the Pubmed abstract
To read more about "Simpson-Golabi-Behmel syndrome"
To read more about "Beckwith-Wiedemann syndrome"

Am J Med Genet A. ; 167(1):151-5 ; January, 2015
Gómez-López-Hernández syndrome: benefits of computed tomography imaging in the detection of trigeminal nerve and foramina rotunda abnormalities in neonates with suspected disease
Consult the Pubmed abstract
To read more about "Gómez-López-Hernández syndrome"

Am J Med Genet A. ; 167(1):238-42 ; January, 2015
Distinguishing GATA2 deficiency-associated bone marrow disorders from aplastic anemia is critical for selecting appropriate therapy
Consult the Pubmed abstract
To read more about "Idiopathic aplastic anemia"
To read more about "Myelodysplastic syndrome"
To read more about "Deafness - lymphedema - leukemia"
To read more about "Acute myeloid leukemia"
To read more about "Monocytopenia with susceptibility to infections"

Blood ; 125(1):56-70 ; January 2015

Patient Management and Therapy
Erythropoietic protoporphyria: review on afamelanotide treatment
Consult the Pubmed abstract
To read more about "Erythropoietic protoporphyria"

Expert Rev Clin Pharmacol. ; 8(1):43-53 ; January, 2015
Acromegaly: review of the efficacy and tolerability of treatment with pegvisomant
Consult the abstract

To read more about "Acromegaly"

Expert Opinion on Orphan Drugs ; 3(1):97-108 ; January, 2015
B-cell chronic lymphocytic leukemia and follicular lymphoma: review on idelalisib for the treatment
Consult the abstract
To read more about "B-cell chronic lymphocytic leukemia"
To read more about "Follicular lymphoma"

Expert Opinion on Orphan Drugs ; 3(1):109-123 ; January, 2015
Cystic fibrosis: Cochrane review on vitamin E supplementation
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 12:CD009422 ; December 2014
Idiopathic achalasia: Cochrane review on endoscopic pneumatic dilation versus botulinum toxin treatments
Consult the Pubmed abstract
To read more about "Idiopathic achalasia"

Cochrane Database Syst Rev. ; December 2014
Sickle cell anemia: Cochrane review on interventions for treating leg ulcers
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Cochrane Database Syst Rev. ; 12:CD008394 ; December 2014
Sickle cell anemia: review on reproductive issues
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Blood ; 124(24):3538-43 ; December 2014
Hidradenitis suppurativa in children and adolescents: review on treatment options
Consult the Pubmed abstract
To read more about "Hidradenitis suppurativa"

Paediatr Drugs. ; 16(6):483-9 ; December 2014
Mitochondrial disorders: review on treatments
Consult the Pubmed abstract
Mol Genet Metab. ; 113(4):253-260 ; December 2014
Pulmonary arterial hypertension: two reviews on treatment options
Consult the Pubmed abstracts
To read more about "Pulmonary arterial hypertension"

Eur Respir Rev. ; 23(134):488-97 ; December 2014
Circulation ; 130(24):2189-208 ; December 2014
Myeloproliferative neoplasms: a review
Consult the Pubmed abstract
To read more about "Polycythemia vera"
To read more about "Essential thrombocythemia"
To read more about "Myelofibrosis with myeloid metaplasia"

Blood ; [Epub ahead of print] ; December 2014
Alpha-1-antitrypsin deficiency: review on current and future treatment options
Consult the abstract
To read more about "Alpha-1-antitrypsin deficiency"

Expert Opinion on Orphan Drugs ; 3(1):5-14 ; January, 2015
Cushing syndrome: review on therapeutic strategies
Consult the abstract
To read more about "Cushing syndrome"

Expert Opinion on Orphan Drugs ; 3(1):45-56 ; January, 2015
Creutzfeldt-Jakob disease: review on future therapeutic options
Consult the abstract
To read more about "Creutzfeldt-Jakob disease"

Expert Opinion on Orphan Drugs ; 3(1):57-74 ; January, 2015
Placental site and epithelioid trophoblastic tumor: review on pharmacotherapy
Consult the abstract
To read more about "Placental site trophoblastic tumor"
To read more about "Epithelioid trophoblastic tumor"

Expert Opinion on Orphan Drugs ; 3(1):75-85 ; January, 2015
Birt-Hogg-Dubé syndrome: a review
Consult the abstract
To read more about "Birt-Hogg-Dubé syndrome"

Expert Opinion on Orphan Drugs ; 3(1):15-29 ; January, 2015
Primary ciliary dyskinesia: a review
Consult the abstract
To read more about "Primary ciliary dyskinesia"

Expert Opinion on Orphan Drugs ; 3(1):31-44 ; January, 2015
Relapsing polychondritis: a review
Consult the Pubmed abstract
To read more about "Relapsing polychondritis"

Orphanet J Rare Dis. ; 9(1):198 ; December 2014
Retroperitoneal fibrosis: review on diagnosis
Consult the Pubmed abstract
To read more about "Retroperitoneal fibrosis"

Rev Med Interne. ; 36(1):15-21 ; January, 2015
Tetrasomy 12p: a review
Consult the Pubmed abstract
To read more about "Tetrasomy 12p"

Am J Med Genet C Semin Med Genet. ; 166(4):406-13 ; December 2014
Eosinophilic granulomatosis with polyangiitis: a review
Consult the Pubmed abstract
To read more about "Eosinophilic granulomatosis with polyangiitis"

Autoimmun Rev. ; [Epub ahead of print] ; December 2014
Cogan and Behçet syndromes: a review
Consult the Pubmed abstract
To read more about "Cogan syndrome"
To read more about "Behçet disease"

Rheum Dis Clin North Am. ; 41(1):75-91 ; 2015
Primary central nervous system vasculitis: a review
Consult the Pubmed abstract
To read more about "Primary central nervous system vasculitis"

Rheum Dis Clin North Am. ; 41(1):47-62 ; 2015
Sneddon syndrome: review of the literature
Consult the Pubmed abstract
To read more about "Sneddon syndrome"

Orphanet J Rare Dis. ; 9(1):768 ; December 2014
Polyarteritis nodosa: a review
Consult the Pubmed abstract
To read more about "Polyarteritis nodosa"

Rheum Dis Clin North Am. ; 41(1):33-46 ; 2015
Mantle cell lymphoma: review on management strategies
Consult the Pubmed abstract
To read more about "Mantle cell lymphoma"

Blood ; 125(1):48-55 ; January, 2015
Carcinoma of the esophagus: a review
Consult the Pubmed abstract
To read more about "Carcinoma of the esophagus"

N Engl J Med. ; 371(26):2499-509 ; December 2014
Three new and nine updated GeneReviews 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. Three new GeneReviews have been published for:
Deafness and myopia syndrome
Autosomal dominant Robinow syndrome
C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia

Nine updated GeneReviews have been published for:
CDC73-related disorders
Chediak-Higashi syndrome
Craniometaphyseal dysplasia, autosomal dominant
Diabetes mellitus, 6q24-related transient neonatal
Infantile-onset spinocerebellar ataxia
Legius syndrome
SALL4-related disorders
Alexander disease
Hutchinson-Gilford progeria syndrome


Orphan Drugs
Regulatory News
Nineteen Positive opinions recommending orphan designation at the January 2015 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted nineteen positive opinions issued at the January 2015 COMP meeting for:

- the treatment of hereditary angioedema
- the treatment of ovarian cancer
- the treatment of Ebola virus disease
- the treatment of systemic sclerosis
- the treatment of sickle cell disease
- the treatment of Huntington's disease
- the treatment of facioscapulohumeral muscular dystrophy
- the treatment of sickle cell disease
- 3 treatments for cytomegalovirus infection following haematopoietic stem cell transplantation
- the treatment of acute myeloid leukaemia
- the prevention of necrotising enterocolitis
- the treatment of narcolepsy
- the treatment of retinitis pigmentosa
- the treatment of progressive supranuclear palsy
- the treatment of soft tissue sarcoma
- the treatment of glioma
- the treatment of acute myeloid leukaemia

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

Political and Scientific News
How to successfully apply for an Orphan Designation: proving medical plausibility
The Committee of Orphan Medicinal Products (COMP) has published an informative article in the Orphanet Journal of Rare Diseases with examples of medicinal products that were given orphan designation and how they were assessed for medical plausibility by the COMP. Medical plausibility is judged by the ability of the sponsor to demonstrate the “intention to diagnose, prevent or treat” a serious and rare condition. According to the article, there are several challenges that are faced by the sponsors during the scientific assessment of the applications for orphan designation by the Committee. This is because the assessment is based on the review of non-clinical (such as in vitro and in vivo) and/or clinical data submitted. However, providing this type of data is not always straightforward at an early stage of product development.

The article thus provides examples of where sponsors have successfully justified medical plausibility, to steer future sponsors of medicinal products in the right direction. The authors have provided several examples of justification based on pre-clinical data with relevant models (animals or cellular) and endpoints. They can also be based on pre-clinical data at the early stages of development, examples of which include applications defended on grounds of preliminary data. For further guidance, the authors have also provided by examples of unsuccessful efforts to justify medical plausibility which includes bridging to data from other products and to non-relevant models increases assumption and weakened medical plausibility. Finally the authors have emphasised that they judge each application on a case by case basis and even if all the appropriate models and endpoints are used, if the results obtained do not show benefit than the dossier could still be rejected.
Read the open access article

Antisense Oligonuleotide as a treatment approach: how to make this a reality
A workshop focusing on preclinical development, trial design, outcome measures, and different forms of marketing authorisation for exon skipping therapies was organised by the regulatory models and biochemical outcome measures working groups of Cooperation of Science and Technology Action: ‘‘Networking towards clinical application of antisense-mediated exon skipping for rare diseases.’’ The workshop included participants from patient organisations, academia, and members of staff from the European Medicine Agency and Medicine Evaluation Board (the Netherlands). A statement article published in Human Gene therapy contains the key outcomes of this workshop. According to the article, several translational challenges are currently impeding the therapeutic development of antisense-mediated exon-skipping approaches for rare diseases. This is because exon skipping therapies such as the usage of antisense oligonucleotides (AON) therapy is a fairly new approach and only limited information is available on long-term safety and toxicity. The workshop gave a detailed account of how AON’s are developed as well how researchers can ensure a workable AON-mediated therapy at the pre-clinical and clinical level. The workshop also discussed the appropriate usage of outcome measures. Additionally, the various regulatory pathways that are available for achieving a centralised EU marketing authorisation which, apart from full authorisation, also include conditional authorisation, opportunity to take part in EMA’s pilot on adaptive licensing as well as marketing authorisation through compassionate programs.
Read the PubMed abstract



NEURONERANET: 2015 “Neurodevelopmental Disorders”
This call for Proposals for "European Research Projects on Neurodevelopmental Disorders" is aimed to facilitate multinational, collaborative research projects that will address important questions relating to the neurodevelopmental nature of neurological and psychiatric disorders. The call will accept proposals ranging from understanding basic mechanisms of disease through proof of concept clinical studies in humans.
Deadline for pre-proposal submission: 9 March, 2015 14:00 CET

For further information

The EU Joint Programme – Neurodegenerative Disease Research (JPND)
This joint transnational co-funded call is launched in partnership with the European Commission under the ERA-NET Co-fund scheme with the aim to tackle this leading medical and societal challenge faced by our society. Three priority topics form the basis for the Call – Longitudinal Cohorts, Advanced Experimental Models and Risk/Protective Factors. These three topics have emerged through a consultative process between research opinion leaders and JPND member organisations, focussed on delivering the understanding, tools and capabilities to underpin the development of new preventive and therapeutic approaches for neurodegenerative diseases.

Funding: The total fund for this call is over 30 million euro (for all participating countries) with a 10 million euro European Commission “topping up” fund.
Deadline: The pre-proposal submission deadline is 23:59 (C.E.T) on the 10th of March, 2015.
For further information

The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit. As appropriate, submitted studies should consider inclusion of the following: Collaboration among investigators from different institutions as well as translation of findings into the clinical setting.
Maximum Amount of Monies to be Awarded: Up to $100,000 USD (total)
Duration of Grant: 1 Year
LOI Deadline: April 2, 2015

For further information

ERare : Joint Transnational Call 2015
On the 15th of December 2014 ERare opened the seventh ERare joint call for funding multilateral research projects on rare diseases (JTC 2015) together with the European Commission (EC) under the ERANet cofund mechanism. The call is expected to be opened simultaneously by the parties in their respective countries. The following 17 countries (23 funding agencies) intend to participate in this call: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Greece, Hungary, Israel, Italy, Latvia, Poland,Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition. For more information, details of the topic, eligibility criteria and timeline go to www.erare.eu


Partnersearch, Job Opportunities
Call for Interest: Endowed Chair for Health Services Research for rare diseases in children
The Kindness for Kids Foundation is a non-profit organisation based in Munich, which is involved since its inception in 2003 for children with rare diseases. Under the proposed endowed professorship for health services research for rare diseases in childhood, the Foundation is looking for a suitable medical faculty as the location thereof. Objective of the Chair is to sustainably improve the quality of life of children with rare diseases. You can find the complete announcement on www.kindness-for-kids.de If interested, please submit a letter of intent initially until 31 December 2014 by the Foundation. This is a necessary precondition for the further application. The application deadline is February 28 2015th If you have questions, please contact Dr. Barske responsible for the promotion of research at Kindness for Kids, by phone (089 21 56 85 80) or by email (j.barske@kindness-for-kids.de).

Courses & Educational Initiatives

European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
Date: February/March of each year
Venue: Nimes, France

It is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification.
For further information

The 3rd Edition of Orphan Drug & Rare Disease Seminar
Date: 27 March, 2015
Venue: Lyon, France

This training seminar, organised by FCRIN and Eudipharm aims at raising awareness among clinical research actors on the drug development specificities for rare diseases. This third edition will attempt to answer that very “hot” topic by providing clinical research professionals and project carriers with tools and solutions, thanks to the participation of clinical research experts and authorities.
For further information

Date: 1-5 June, 2015
Venue: Barcelona, Spain

ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
For further information contact Nancy Hamilton
Visit the EURORDIS website for more information.

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.
Advanced metabolic course: Controversies in management
Date: 11-13 March, 2015
Venue: Manchester, UK

in partnership with Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust.
For Further Information

The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 21-23 May, 2015
Venue: Washington DC, US

Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
Registration deadline: 8th April

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?

2nd International Klaus Betke Symposium on Pediatric Hematology
Date: 6–7 March, 2015
Venue: Munich, Germany

The conference will focus on Rare Diseases of the Human Immune System – Neutrophil Granulocytes and Biology of Mitochondria
For further information

3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: “From Better Start to Better Living”
Date: 11-12 April, 2015
Venue: Melbourne, Australia

The theme of this conference is “From better start to better living” and will provide an opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise.
For further information

Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
Date: 16-17 April, 2015
Venue: Seville, Spain

Genetic Insider The connection platform among European and American clinical professionals and industry, to promote the necessary partnership networks for rare diseases.
For further information

3Gb-TEST course on NGS: “Next-generation sequencing in a diagnostic setting
Date: 20-23 April, 2015
Venue: Prague, Czech Republic

A 4-day course on Next Generation Sequencing in Prague - Czech Republic in the period of 20-23th April 2015. The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (limited places). The course will also include an evening symposium co-organised by Milan Macek; “Genotranslation: Interpretation of genome data in diagnostics”.
For further information

2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
Date: 27-29 April, 2015
Venue: Crete, Greece

European funded research consortium GENCODYS exploits a multilevel approach to resolve the integrative networks in intellectual disabilities. The conference will bring together about 150 top researchers, medical doctors and patient representatives in the field of Cognitive Research and related activities.
Talks and submissions for talks have to be related to studies of cognitive dysfunction but can include other fields, namely genetics, cellular, molecular and physiological studies, genomics and epigenomics and bioinformatics.
For further information

Trisomy 21 Research Society (T21RS) International Conference
Date: 4-6 June, 2015
Venue: Paris, France

T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
For further information

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

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

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

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Salzburg, Austria

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 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: Missoouri, 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

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG)
Date: 28-30 August, 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

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

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


Commercial events

Pharma Pricing and Market Access Congress 2015
Date: 24-26 February, 2015
Venue: London, UK

The conference provides information on the latest policies affecting market access from payers, HTA authorities and leading industry experts.
For further information

World Orphan Drug Congress USA 2015
Date: 3-7 April, 2016
Venue: Maryland, USA

World Orphan Drug Congress is the premier commercial event for the global rare disease industry. Differentiate yourself from the competition by discovering the latest strategies for sustainability, pricing and reimbursement, commercialization and global market access.
For further information

Pan-Omics Summit
Date: 21-22 May, 2015
Venue: Massachusetts , US

Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
For further information

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts , US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

World Orphan Drug Congress Asia 2015
Date: 3-4 June, 2015
Venue: Singapore

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information


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

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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Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)