7 July 2015 print
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Editorial
 
Croatia adopts National Programme for Rare Diseases
 

The Croatian National Programme for Rare Diseases, which was in the works since 2010, has been approved by the Croatian government in February 2015. In 2008, the Croatian Medical Association founded Croatian Society for Rare Diseases in order to promote awareness of rare diseases (RD) and improve medical practice, diagnosis and treatment of these disorders. At the initiative of Croatian Society for Rare Diseases, in line with EU recommendations, the Ministry of Health of the Republic of Croatian decided to systematically address concerns of RD patients by creating a comprehensive framework that would ensure inclusive protection as well as access to all rights.

Based on the decision of the Minister of Health on 24 May 2010, a Commission of the Ministry of Health for the development and monitoring of the implementation of the National Programme for Rare Diseases advisory was entrusted with the task of producing a National Programme for Rare Disease. This programme would sum up the problem of rare diseases from the perspective of the European Community and the Republic of Croatia and bring the main strategic goals and measures to improve health care in the field of RD in the period ascribed. The composition of the Commission reflects active dialogue in this area, which was comprised of 11 members, 3 representatives of the member associations of patients with RD, and 8 representatives of the state administration and the medical profession.The Croatian National Programme for Rare Diseases represents nine strategic areas of activity to be fulfilled during the period of 2014-2019.

• Improving knowledge and access to information on RD in Croatia
• Support the development of registers of RD and their permanent financing
• Supporting the development of the network of reference centres and centres of excellence for RD
• Improving the availability and quality of health care (diagnosis, treatment and prevention)
• Ensuring the availability of drugs for RD
• Expansion of social rights of people affected by RD
• Empowering patient organisation
• Promoting scientific research in the field of RD
• International networking and cooperation in the field of RD

The National Programme for Rare Diseases 2014-2019 document has been produced by the Croatian Ministry of Health which presents the series of goals and recommendations to contribute to the improvement of quality health care in the field of rare diseases with the rational use of resources. The document is based on the available information and scientific achievements in the area as well as the clinical expertise and ethical principles that ensures equality towards achieving health care for all Croatian citizens.
Read the Croatian National Programme for Rare Diseases
 


 
EC Expert Group
 
Flash report : Commission Expert Group on Rare Diseases 5th meeting, 10-11 June 2015
 
The Flash report of the Commission Expert Group on Rare Diseases meeting of 10-11 June 2015 is now published. The group adopted an addendum to the 2013 recommendations on European Reference Networks (ERNs) for rare diseases (read below). A progress update on the implementation cross-border healthcare was given, which included the assessment of ERNs. The group also communicated that many Member States have now adopted a national plan or strategy and many are in the stages of implementation. The group discussed the draft recommendation on cross-border genetic testing work conducted by the EUCERD Joint Action in this area and the outcomes of two workshops as well as the outcomes of the work on specialised social services. An update on the EUCERD Joint Action, which will finish in August 2015, was presented. The report also signalled the final conference to disseminate the outputs of the Joint Action will be organised in Luxembourg on 15 September 2015, to be followed by the kick-off meeting of the new RD Joint Action.
Read the Flash Report

 


 
Spotlight on...
 
Professor Richard Cotton (1940 - 2015)
 

Watch a Tedtalk by Professor Richard Cotton

The world of science is poorer as Professor Richard Cotton passed away peacefully in his sleep on 14 June, 2015. Prof. Cotton was the first proponent of collecting and sharing information on human genetic variants for accurate and expeditious diagnosis especially for inherited diseases. He was one of the strong and pioneering voices who advocated that without sharing this data, diagnosis would not be possible and optimal care to the patients and their families would be nonexistent. He devoted 30 years of his professional life towards this cause where he managed to persuade people to share his vision and what they know about genes, variants and phenotypes. He was also responsible for driving the standardization of variant information that are published in the public domain.

Prof. Cotton was raised at South Wangaratta, Victoria, Australia in a small farming town, where he was an ardent environmentalist, raising and donating time and money for this cause. He completed most of his education in Australia and worked for a significant portion of his life in Australia and the United States.

One of his momentous achievements include the founding of the scientific journal Human Mutation, where researchers and doctors could report and check the severity of the mutations they found in their patients - a visionary undertaking of that time. He also initiated the alternating biannual International Mutation Detection Workshops and HUGO Mutation Detection Courses, the HUGO Mutation Database initiative, stood at the basis of the HGVS recommendations to describe DNA variants and organizations like the Human Genome Variation Society (HGVS) and since 2006, the Human Variome Project (HVP). He also motivated the development of software for web based database curation as well as the establishment of the InSiGHT Database for Colon Cancer. He was able to garner the attention and collaboration of multilateral and multinational organisations such as UNECSO and the World Health Organization, who have become fundamental partners in the Human Variome Project's goals.

Prof. Cotton dedicated his life to minimising the suffering caused by inherited diseases, and irrespective of whether his efforts matched the results or expectations, he will be revered for his pioneering work in this field. His achievements aside, his colleagues remember him as a kind, generous and humorous gentleman who leaves behind a truly remarkable legacy.

 


 
EU Policy News
 
EMA
 
The EMA offers early meetings, free of charge to support development of paediatric medications
 
In the European Union, pharmaceutical companies are obliged to develop all new medicines also for use in children which is detailed in the paediatric investigation plan (PIP) that needs to be agreed with EMA’s Paediatric Committee (PDCO). Due to the issues that crop up during the submission of a PIP, which often delay the paediatric development and consequently children’s access to the medicine, the European Medicines Agency (EMA) has recently announced an initiative which will help sponsors advance the drug development process in time. They will now offer free of charge, early interaction meetings with medicines developers of paediatric medications. The initiative, currently on a one year pilot phase, aims to address paediatric needs well before the submission of a PIP. It must be noted that the EMA will only consider a limited number of applications during the pilot phase where priority will be given to medicines that address major public health needs.

Medicines developers that wish to participate in the pilot phase are invited to provide information on their medicine using a specific form and send it to paediatrics@ema.europa.eu.
Read more

 


 
National & International Policy Developments
 
Western Australia Rare Diseases Strategic Framework 2015–2018
 
The state of Western Australia (WA) has become the first jurisdiction in Australia to develop a comprehensive plan for improving the lives of people living with a rare disease. The document - WA Rare Diseases Strategic Framework 2015-2018, produced by WA Health’s Office of Population Health Genomics describes how this jurisdiction will provide a mechanism for the co-ordination of WA initiatives for rare diseases and recognises them as a public health priority. This document was shaped after extensive consultation with stakeholders across the rare diseases sector. The strategy is structured around four aims which are to:

• advance rare diseases planning in Western Australia and Australia
• promote a person-centred approach throughout WA Health for people living with rare diseases
• contribute to a high-quality health system for people living with rare diseases
• foster world-class research on rare diseases.
Read the discussion paper

 
Other European news
 
Economic crisis, health systems and health in Europe viewed by WHO
 
A freely available book on Economic crisis, health system and health in Europe , has been published by the World Health Organization in partnership with European Observatory on Health systems and Policies. This book details health policy decisions in lieu of the financial and economic crisis faced by Europe. The policy decisions have been described by country in an effort to provide valuable knowledge to policy-makers, researchers and others.

This book is divided in two parts. The case studies in Part I provide a detailed analytical survey of policy responses to the crisis in nine countries, six of which were selected because they were "relatively heavily affected by the crisis and faced intense policy challenges (Estonia, Greece, Ireland, Latvia, Lithuania and Portugal).'. Part II of the book provides short overviews of policy responses to the crisis in 47 countries.

The book has some sections dedicated to how the health policy in the EU nations have affected rare disease patients as well as the policy decision that have been undertaken or should be undertaken to improve development and/or access to rare diseases.

 
More action needed in the EU regulation on clinical trials to protect vulnerable research participants
 
A study published in Health Policy inquires whether the new Regulation on clinical trials adopted by the European Union (EU) in April 2014 can adequately shield vulnerable research participants from harm and exploitation without excluding them from the benefits of research.

The authors defined vulnerability as resulting from “susceptibility and a corresponding exposure to a risk”, which has to be distinguished within clinical trials. According to the authors, the risk of exploitation pertains to individuals who are not capable of giving consent or can be unfairly influenced, and the risk of physical or psychological harm is where individuals can sustain damage as a result of the trial. They emphasise that protecting these individuals should not entail excluding them from trials, but instead by making provisions for additional safeguards which is not currently available in the EU clinical trial regulation. The authors underscore that the new EU Regulation “adopts a wider understanding of vulnerable participants” and is unsatisfying because the definition of vulnerability is unclear which leads to a patchy protection of subjects. Finally, the authors make several suggestions that will ensure the protection of the interests of vulnerable research participants.
Access the article

 
Rare disease European Reference Networks: Scope of ERNs for Rare Diseases now defined
 
The EUCERD adopted Recommendations on Rare Disease European Reference Networks on 31st January 2013. The primary purpose of these Recommendations was to “help focus on the specificities of rare diseases and the criteria for the establishment and evaluation of ERNs in the field of rare diseases.” At the November 2014 meeting of the EC Expert Group on Rare Diseases, it was agreed that although the Recommendations overall remain highly relevant and comprehensive, two topics should be revisited and elaborated at this stage: the grouping of RD into thematic networks and the necessity of a patient-centred approach to RD ERNs. This Addendum outlines the rationale of these two topics and then makes recommendations accordingly.

1. Grouping Rare Diseases in Thematic Networks: The addendum states that ERNs in the field of Rare Diseases should be organised by grouping targeted diseases at a high level. The list of potential ERNs is the following:

Rare immunological and auto-inflammatory diseases, Rare bone diseases, Rare cancers* and tumours, Rare cardiac diseases, Rare connective tissue and musculoskeletal diseases, Rare malformations and developmental anomalies and rare intellectual disabilities, Rare endocrine diseases, Rare eye diseases, Rare gastrointestinal diseases, Rare gynaecological and obstetric diseases, Rare haematological diseases, Rare craniofacial anomalies and ENT (ear, nose and throat) disorders, Rare hepatic diseases, Rare hereditary metabolic disorders, Rare multi-systemic vascular diseases, Rare neurological diseases, Rare neuromuscular diseases, Rare pulmonary diseases, Rare renal diseases, Rare skin disorders, Rare urogenital diseases

2. Necessity of patient involvement in RD ERNs: According to the addendum “Rare Disease ERNs should recognise the critical roles patient and patient representations play, as experts by experience and co-producers of knowledge in all ERN activities, besides demonstrating meaningful involvement, patient-centricity and empowerment in care…. a higher level of involvement of patients in decision and opinion-making processes is essential to ensure the successful development of RD ERNs. ”

This Addendum, elaborated at a EUCERD Joint Action workshop in October 2014 and subsequent Expert Group meetings, outlines the rationale of these two topics and then makes recommendations accordingly.
Read the EUCERD Recommendations on Rare Disease European Reference Networks (RD ERN)
Read the Addendum

 
Other International News
 
Consultation for Orphan drugs programme by Therapeutic Goods Administration Australia
 
Since the inception of the Orphan Drug Program (ODA) in Australia there have been developments in the definition and recognition of 'rare diseases', and in the technology to diagnose and identify rare diseases. This has led to a significant increase in the number of applications for orphan drug designation and applications for market authorisation for such drugs. The Therapeutics Goods Administration (TGA) of Australia has published a paper, which was open for public comment, addressing whether the ODA in its current form is continuing to provide an incentive to sponsors to bring medicines to rare disease patients. In this paper the TGA asked for input on four potential options for reform of this program so as to ascertain that its objectives continue to be met.

This discussion paper was first released in January 2015 to a target group consisting of patient advocate groups, industry groups and sponsors. After minor amendments, it was released for public consultation on the TGA website. Feedback will be released shortly following consideration of submissions.
Read the discussion paper

 
FDA’s Draft Guidance on Laboratory-Developed Tests: the challenges ahead
 

An article published in The Journal of Clinical Pharmacology critiques and offers suggestions to the US Food and Drug Administration (FDA) on their intent to regulate laboratory developed tests (LDT). The US FDA has notified the US Congress on July 31, 2014 with this intent, which according to the authors, has the “potential to impact the innovation and sustainability of pharmacogenetic research and its clinical implementation.”

The authors believe that requiring the CLIA (Clinical Laboratory Improvement Amendments) - accredited laboratories that provide pharmacogenetic genotyping using an LDT, to obtain premarket approvals (PMAs) for these tests is ill-advised. They explain that the time and costs involved in obtaining PMAs are high and would considerably delay bringing these tests to the needy. To support the oversight of LDTs, the FDA wants to redefine laboratories that perform LDTs as manufacturers of medical devices intended for human use. Although the authors agree that CLIA- accredited laboratories may need to refurbish some of their quality standards, they also highlight the potentially negative financial and health economic implications that this action would incur. Lastly, the authors also emphasise the need to understand how reimbursement for these tests will be handled as it has not been made clear by FDA or the Affordable Care Act.
Consult the Pubmed abstract

 
Guidance Documents and Recommendations
 
Acute myeloid leukemia: guidelines for the diagnosis and management in pregnancy
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Br J Haematol. ; [Epub ahead of print] ; June 2015
 
Bioinformatics, Registries and Data Management
 

 
BMRI-ERIC recommend the development of biobank-based Expert Centres
 
The Biobanking and BioMolecular resource Research Infrastructure (BBMRI) has published a review in the European Journal of Human Genetics on the rationale and the advantages of setting up Expert Centres as “key intermediaries between public and private sectors performing the analysis of biological samples under internationally standardized conditions.” In Europe, BBMRI was awarded the Community legal framework for a European Research Infrastructure Consortium (ERIC). According to the review, BBMRI-ERIC is a key resource as the life science industry can rely on the samples provided by them throughout the process from the early research stage up to preclinical research as well as further clinical development. They have highlighted its close links to universities, SMEs as well as biotechnology commercialising firms. The review emphasises the role of Expert Centres to perform the primary analysis of biological samples under internationally standardised conditions in a precompetitive environment. They highlight two major goals that will be achieved by this: “access to primary data is provided in a form that can more easily be shared than the biological samples themselves, and high quality and over time increasing amounts of information from biological samples is made available to industry for further product development.”

The authors believe that the Expert Centre is a crucial agent that provides a trusted, operational middle ground between the public and private sectors which will also function as the future ‘highways’ for transnational research collaborations.

Given the novelty of the BBMRI Expert Centre concept,the authors provide several models of putative Expert Centres in the article which include EXCEMET, SciLifeLab (Science for Life Laboratory), BARC (Biobanking Analysis Resource Catalogue), Lifandis AS, EGC (the Estonian Genome Center).
Read the Open Access article

 
Human phenotyping on your smartphone
 
Nature has published the Apple announcement of the launch of ResearchKit - a mobile platform that taps into the iPhone’s 700 million global users to compile individuals interested in participating in human research studies. The first five apps included in the kit enable users to enrol in observational studies on Parkinson’s, cardiovascular health, breast cancer, asthma and diabetes. According to the article around 1.9 billion smart phones are now in use around the world where each one is equipped with powerful processors and advanced sensors that can track movement, take measurements, and record information — functions that assist medical studies. The author believes that this app also affords an opportunity for people to “connect with physicians and researchers with great ease, making it a powerful tool for clinicians seeking to recruit individuals into trials, particularly for rare diseases.”

The facility of the phone interface allow caregivers as well as patients to report data and offers the ability to monitor phenotypes in a longitudinal manner. However, the article points out that this app is not without challenges as there is the need to agree on standardised descriptions of human phenotypic variations. Additionally there is potential for bias since the data are self reported and users tend to be from particular demographic category, due to which the data will have to be validated with randomised, controlled trials.
Read the Open Access article

 
GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes
 
Another mobile application, this time for Android platforms named GeneStoryTeller is described in Database. This app allows users to instantly retrieve information regarding any recorded human gene, derived from eight publicly available databases, as a summary story. The authors highlight the comprehensiveness of the application as it contains data from (i) the pharmacogenomics knowledge resource PharmGKB, (ii) the pathway databases Reactomeand (iii) PathWayCommons, (iv) the protein–protein interaction repository Biogrid, (v) the Drug–Gene Interaction database DGIdb, (vi) the Gene Ontology annotation database, (vii) the Online Mendelian Inheritance in Man (OMIM) database and (viii)the Copenhagen Disease Database.

The authors describe this smartphone application to present the latest information regarding genes in a form of a summary story. The authors also illustrate features of the database such as information on “gene–drugs interactions, functional annotation and disease associations for each selected gene is also provided in the gene story.” According to the authors GeneStoryTeller dynamically updates its content via network connection but does not require an internet connection to check data.
Consult the Pubmed abstract

 
Study urges exercising caution while using variant databases to diagnose rare diseases
 
A study published in Genetics in Medicine describes the problems associated with utilising the current variant databases to reach a diagnosis. It is well known that Marfan syndrome (MFS) - an autosomal dominant disorder caused by variants in FBN1 which expresses a protein important to connective tissue – is diagnosed using FBN1 mutation test according to its diagnostic criteria. The authors report that there are 23 common variants of FBN1registered in ESP6500 which are classified as causing MFS in the Human Gene Mutation Database (HGMD). The researchers evaluated both database information and papers cited in the databases against defined clinical diagnostic criteria for MFS known as the Ghent nosology.

They found that none of the four well known variant databases consulted by them (HGMD, UMD-FBN1, ClinVar, and UniProt), showed that the 23 variants of FBN1 had clear associations with the disease. According to the authors many papers referenced in these databases contained phenotypic data associated with specific variants but lacked evidence that patients had received an accurate MFS diagnosis. The authors warn that researchers and doctors should exercise extensive caution while using variant databases as many of them are uncurated, inaccurate and are not entirely reliable.
Consult the Pubmed abstract

 
The human diseasome: phenotype similarity model for common, mendelian, and infectious diseases
 
Authors of a study published in Nature generated a human disease network in which diseases that have similar signs and symptoms cluster together, and have used this network to identify closely related diseases based on common etiological, anatomical as well as physiological underpinnings. This is a resource of disease-associated phenotypes for over 6,000 common, rare, infectious and Mendelian diseases. The authors emphasise that through this approach, they have not only obtained phenotypic characterisation of common and infectious diseases, but also for genetically-based diseases in OMIM for which currently "no phenotypic characterisation exists either in the HPO annotations or as a clinical synopsis in OMIM." The disease–disease similarity network in this study shows that diseases of different systems and pathological processes can be separated on the basis of phenotypic relatedness which is also supported by their cluster analysis and identify similarity between etiologically related disease groups where overlapping phenotypes are observed.

The authors believe that “exploring diseases through their associated phenotypes has major applications for biomedical research, and several studies have primarily relied on disease phenotypes to reveal functional disease modules candidate genes of disease, prioritise genes in GWAS studies, and investigate drug targets and indications.”
Read the Open Access article

 
Visualising protein-protein interaction
 
A study published a BMC Bioinformatics a survey of databases that enable the visual analysis of protein networks in order to understand the biological networks based on protein-protein interactions. The authors selected 10 out of 53 resources that "support visualisation and tested against interoperability, data integration, quantity of possible interactions, data visualization quality and data coverage." The study reveals differences in usability, visualisation features and quality as well as the quantity of interactions, recommending StringDB as the first choice, CPDB as a comprehensive dataset and IntAct with a user-friendly network layout. The authors have made available a comprehensive comparison table via web which can be accessed on http://tinyurl.com/PPI-DB-Comparison-2015 .

According the authors the study results underline the necessity for further enhancements of visualisation integration in biochemical analysis tools. They have also identified challenges such as data comprehensiveness, confidence, interactive feature and visualisation maturing.
Read the Open Access article

 
Screening and Testing
 
Commercial provision of non invasive prenatal screening for microdeletions: a perspective
 
A review published in Genetics in Medicine discusses why noninvasive prenatal screening (NIPS) for microdeletions (called subchromosomal abnormalities in the article) should be used with caution. Using cell-free foetal DNA has been commercially available in the United States for the detection of trisomies and now several companies worldwide now offer NIPS for microdeletions as well. The authors in the article provide evidence that the “clinical utility of some of the expanded content is questionable and that lumping trisomy testing and microdeletion testing into the same test conflates disparate clinical realities.”

The authors illustrate that NIPS for microdeletions has not been validated in large-scale studies and statistically NIPS for microdeletions will yield more false positives than tests for more common conditions. They also point out that they are currently offered under incorrect circumstances such as “high-risk” Pregnancies (advanced maternal age, ultrasound abnormalities or history of chromosomal defects) even though microdeletion syndromes can occur with equal frequency at all maternal ages and are not associated with clear ultrasound abnormalities. The authors believe that expanded panels that includes microdeletions may lead to a greatly expanded number of women receiving unvalidated test results for rare conditions which is a difficult genetic counselling scenario as the clinical management of several rare conditions are not clear. Additionally prenatal genetic counselling is rarely considered a reimbursable expense by insurance companies. The authors accentuate that companies are likely to report more NIP microdeletions in the future which will further increase false-positive rates (as well as false negative rates), possibly leading to more anxiety and more follow-up invasive procedures.
Access the article

 
An algorithm to choose a diagnostic test for Mendelian disorders
 
An article published in Genetics in Medicinehas described the problems faced by the rampant implementation of next-generation sequencing (NGS) technology and the current limitation in variant interpretation capabilities. The authors emphasise that against offering NGS as either “stand-alone or first-choice diagnostic approaches” may not be advisable before its full potential is addressed.The authors thus propose an algorithm to help clinicians opt for the most appropriate molecular diagnostic tool for each scenario. This testing algorithm, provided in the form of a flow diagram in the paper,which may help increase theclinical sensitivity of molecular testing and reduce the overalltesting cost and time to a diagnosis for patients.
Consult the Pubmed abstract

 
Taxonomy of rare genetic metabolic bone disorders
 
An article published in Osteoporosis International reports a taxonomic classification of rare skeletal diseases based on metabolic phenotypes. In recent years, the description of the clinical phenotypes and radiographic features of several genetic bone disorders was paralleled by the discovery of key molecular pathways involved in the regulation of bone and mineral metabolism. Rare skeletal metabolic diseases comprise a group of diseases commonly associated with severe clinical consequences. It was prepared by the Skeletal Rare Diseases Working Group of the International Osteoporosis Foundation (IOF) and includes 116 OMIM phenotypes with 86 affected genes.

According to the authors, including this information in the description and classification of rare skeletal diseases may improve the recognition and management of affected patients. The authors highlight that bone remodelling phenotype is not known for all diseases of metabolic origin but management of these disorders may be possible given the knowledge of the metabolic pathway. The authors have intended that this taxonomic paper will provide the core and the structural framework for the development of a web-based atlas for rare metabolic skeletal diseases by the International Osteoporosis Foundation with a detailed description and a guided diagnostic workup for each disease, leading to a targeted therapeutic approach on the basis of the available metabolic hallmarks and structural phenotypes.
Consult the Pubmed abstract

 


 
Ethical, Legal & Social Issues
 
The new era of increased patient involvement in research and policy
 
Early in the last century, patients began to mobilise to accelerate research for particular conditions and have been charting out a role for themselves for drug development. A review published in Science Magazine details the history of patient involvement in the United States and the current policy initiatives that are taking place to increase the role of patients in the drug development process. The review highlights the success of the Cystic Fibrosis Foundation which heralded the first drug for cystic fibrosis patients due to active patient support. Due to the vast number of policy initiative in the past year, involvement of patients is a hot topic of discussion and their engagement is currently observed as obligatory. The authors provide five observations which will help “fulfil the prediction that patient engagement will be the blockbuster drug of the century”. The five suggestions summarised by the authors are below:

a. Expand the capacity of all stakeholders to engage patients all areas of healthcare.
b. Establish methods to increase collaboration, experimentation, coordination, and transparency.
c. Standards and best practices are likely to change rapidly and they have to be kept up with the change.
d. Patient engagement will be charted out for different diseases and stages as they are nuanced.
Keep abreast of social media networks and local community organisations where patients engage
Read the Open Access article

 
Parents of children with undiagnosed disorders ask for open communication with geneticists’
 
The importance of engaging in open communication between geneticists and patients and their caregivers was discussed during a panel discussion at a March 2015 meeting of the American College of Medical Genetics and Genomics (ACMG) as part of a session, Community Conversation: The Journey of the Undiagnosed and the Rare. During the panel three mothers talked to geneticists on how the two could partner to diagnose and care for children with rare diseases by improving communication and building productive relationships with families. The mothers advice geneticist to treat them as equal partners in a child’s diagnosis and care and sharing all pertinent information.

They advise geneticists to offer explanations in understandable language but also ensure that the families have the proper medical terminology and provide them with written reports after appointments. They ask geneticists to not compare children or predict how the child will fare in the future or criticise the parents’ own research. They also add full disclosure of complex, expensive genomic sequencing information is crucial to the families. Finally the mothers said that being friendly and expressing concern for patients and families is paramount. They said that asking about their emotional life is not a superficial aspect of care and information about their good and bad days can help them provide advice on coping strategies.
Access the article

 


 
Orphanet News
 
New collaboration between the IHTSDO and Orphanet to improve visibility of rare diseases in SNOMED CT
 
The IHTSDO (International Health Terminology Standards Development Organisation) and INSERM (Institut national de la santé et de la recherche médicale) have recently committed to a collaboration to link SNOMED CT and the Orphanet rare disease nomenclature. This collaboration aims to improve the visibility of rare diseases in health information systems and the interoperability of systems using different coding systems to collate information about rare diseases, as recommended by the Commission Expert Group on Rare Diseases (Recommendation on coding of RD adopted by expert group). Besides the World Health Organization's International Classification of Diseases, SNOMED CT is a widely used terminology in clinical practice. The work plan formulated between IHTSDO and INSERM will ensure that over the next year rare diseases in Orphanet are represented in SNOMED CT and that a resulting mapping table will be made available via IHTSDO alongside the SNOMED CT content.

It is hoped that this initiative will help improve the collation of information concerning rare diseases at the point of care so as to boost research and inform the structuration and allocation of public health resources.
Go to the IHTSDO website

 


 
New Syndromes
 



 
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B in two unrelated patients
 
The authors described two patients from two apparently unrelated families sharing a similar phenotype characterised by Klippel-Feil anomaly, myopathy, mild short stature, microcephaly, and distinctive facies. They shared a single founder autozygous interval in which whole exome sequencing revealed a truncating mutation in MYO18B.
Consult the Pubmed abstract

 
J Med Genet. ; 52(6):400-4 ; June 2015
 
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation in a large French-Canadian family
 
The authors recruited a large French-Canadian family with a dominantly inherited late-onset painful sensory neuropathy. The main clinical feature was recurrent leg pain that progressed to constant painful paraesthesias in the feet and later the hands. As it evolved, some patients developed a mild sensory ataxia. Whole exome sequencing revealed a dominant mutation in NAGLU.
Consult the Pubmed abstract

 
Brain ; 138(Pt 6):1477-83 ; June 2015
 
Novel mandibulofacial dysostosis syndrome with limb anomalies named ‘Acrofacial dysostosis, Cincinnati type’, caused by POLR1A dysfunction
 
The authors reported three individuals with a cranioskeletal malformation syndrome that they defined as ‘Acrofacial dysostosis, Cincinnati type’. Each individual had a heterozygous mutation in POLR1A. All three individuals exhibited varying degrees of mandibulofacial dysostosis, and two additionally had limb anomalies.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 96(5):765-74 ; May 2015
 
New genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma associated with autosomal-recessive SASH1 variants
 
Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern, alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. The authors identified a homozygous variant in SASH1 in both affected individuals.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 23(7):957-62 ; July 2015
 
Autosomal recessive intellectual disability with neuromuscular defects named ‘Al-Raqad syndrome’ due to DCPS mutations
 
The authors of a first article identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects. They suggested referring to this novel clinical entity as ‘Al-Raqad syndrome’. In another article, it was confirmed that a distinct homozygous splice mutation or a compound heterozygous mutation in DCPS also caused neurological deficits in three affected individuals of Pakistani origin, with a difference in the severity of the disease. A novel homozygous mutation in EDC3 linked to autosomal recessive intellectual disability was also found in this last article.
Consult the Pubmed abstracts

 
Hum Mol Genet. ; 24(11):3163-71, 3172-80 ; June 2015
 
New mitochondrial disorder characterized by developmental delay, poor growth, and sensorineural hearing loss linked to novel compound heterozygous variants in MARS2
 
Novel, single-nucleotide mutations were identified in MARS2 via whole exome sequencing in two affected siblings with a new mitochondrial translation deficiency disorder characterized by developmental delay, poor growth, and sensorineural hearing loss. Analysis of respiratory complex enzyme activities in patient fibroblasts revealed decreased complex I and IV activities.
Consult the Pubmed abstract

 
Hum Mutat. ; 36(6):587-92 ; June 2015
 
Hypotonia, poor feeding and developmental delay in five patients may be caused by haploinsufficiency of AGO1 and AGO3
 
The authors described five patients with hypotonia, poor feeding, and developmental delay who were found to have microdeletions of chromosomal region 1p34.3 encompassing the AGO1 and AGO3 genes. They postulated that haploinsufficiency of AGO1 and AGO3 may be responsible for the neurocognitive deficits present in these patients.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; 23(6):761-5 ; June 2015
 
A maternally-inherited pure 6q15q21 split duplication associated with obesity
 
The authors reported on the first observation of a maternally-inherited pure segmental 6q duplication split into two segments, 6q15q16.3 and 6q16.3q21, and associated with obesity. A son and a daughter inherited the two unbalanced insertions and displayed, like the mother, an abnormal phenotype with facial dysmorphism, intellectual disability, and morbid obesity, and two daughters with a normal phenotype inherited only the smaller segment, 6q16.3q21. The abnormal phenotype was associated with the larger proximal 6q15q16.3 duplication.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 167(6):1275-84 ; June 2015
 
Oligodontia, short stature, and mitral valve prolapsed linked to new recessive truncating mutations in LTBP3 in a family
 
The authors reported on two sisters with homozygous truncating mutations in LTBP3. In addition to oligodontia and short stature, both sisters had mitral valve prolapse.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 167(6):1396-9 ; June 2015
 


 
New Genes
 



 
Noonan syndrome associated with rare variants in SOS2 and LZTR1
 
Consult the Pubmed abstract
 
To read more about "Noonan syndrome"

 
J Med Genet. ; 52(6):413-21 ; June 2015
 
Fanconi anemia caused by biallelic mutations in UBE2T in two unrelated individuals
 
Consult the Pubmed abstract
 
To read more about "Fanconi anemia"

 
Am J Hum Genet. ; 96(6):1001-7 ; June 2015
 
Ehlers-Danlos syndrome, vascular type, due to a novel heterozygous mutation in COL5A1 in a family
 
Consult the Pubmed abstract
 
To read more about "Ehlers-Danlos syndrome, vascular type"

 
Am J Med Genet A. ; 167(6):1196-203 ; June 2015
 
Autosomal-recessive long QT syndrome and pediatric sudden cardiac arrest associated with homozygous or compound heterozygous frameshift mutations of TRDN
 
Consult the Pubmed abstract
 
To read more about "Familial long QT syndrome"

 
Circulation ; 131(23):2051-60 ; June 2015
 
Rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation and autonomic dysregulation syndrome linked to de novo nonsense RAI1 mutation in a child
 
Consult the Pubmed abstract
 
To read more about "Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome"

 
J Clin Endocrinol Metab. ; 100(5):1723-30 ; May 2015
 
Autosomal dominant multiple pterygium syndrome caused by mutation in MYH3 in three families
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant multiple pterygium syndrome"

 
Am J Hum Genet. ; 96(5):841-9 ; May 2015
 
Brachyolmia-amelogenesis imperfecta syndrome due to recessive hypomorphic mutations in LTBP3 in four families
 
Consult the Pubmed abstract
 
To read more about "Brachyolmia-amelogenesis imperfecta syndrome"

 
Hum Mol Genet. ; 24(11):3038-49 ; June 2015
 
Autosomal dominant omodysplasia associated with a de novo mutation in FZD2
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant omodysplasia"

 
Hum Mol Genet. ; 24(12):3399-409 ; June 2015
 
Rare intellectual disability without developmental anomaly caused by a novel missense variant in L1CAM in two Caucasian families
 
Consult the Pubmed abstract
 
To read more about "Rare intellectual disability without developmental anomaly"

 
Eur J Med Genet. ; 58(6-7):364-8 ; June 2015
 
Aymé-Gripp syndrome, formerly described as Fine-Lubinsky syndrome, caused by MAF loss of function mutations
 
Consult the Pubmed abstract
 
Am J Hum Genet. ; 96(5):816-25 ; May 2015
 
Non-progressive cerebellar ataxia due to PMPCA mutations in four families
 
Consult the Pubmed abstract
 
Brain ; 138(Pt 6):1505-17 ; June 2015
 
Hemimegalencephaly due to germline PTEN mutation, and megalencephaly and isolated focal cortical dysplasia type IIa caused by mosaic PIK3CA mutations
 
Consult the Pubmed abstract
 
To read more about "Hemimegalencephaly"
To read more about "Megalencephaly"
To read more about "Isolated focal cortical dysplasia type IIa"

 
Brain ; 138(Pt 6):1613-28 ; June 2015
 
Perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis associated with germline recessive mutations in PI4KA in a family
 
Consult the Pubmed abstract
 
To read more about "Bilateral perisylvian polymicrogyria"

 
Hum Mol Genet. ; 24(13):3732-41 ; July 2014
 
Microcephaly and hypomyelination caused by homozygous mutations in PYCR2 in two consanguineous families
 
Consult the Pubmed abstract
 
Am J Hum Genet. ; 96(5):709-19 ; May 2015
 
A specific type of pulmonary alveolar proteinosis prevalent on Réunion Island due to biallelic mutations of MARS
 
Consult the Pubmed abstract
 
To read more about "Hereditary pulmonary alveolar proteinosis"

 
Am J Hum Genet. ; 96(5):826-31 ; May 2015
 
Congenital hypopituitarism associated with a novel recessive homozygous mutation in LHX4
 
Consult the Pubmed abstract
 
To read more about "Combined pituitary hormone deficiencies, genetic forms"

 
J Clin Endocrinol Metab. ; 100(6):2158-64 ; June 2015
 
Erythrokeratodermia variabilis, without features of oculodentodigital dysplasia, caused by dominant de novo mutations in GJA1
 
Consult the Pubmed abstract
 
To read more about "Erythrokeratodermia variabilis"

 
J Invest Dermatol. ; 135(6):1540-7 ; June 2015
 
Retinal dystrophy with early macular involvement linked to biallelic mutations in DRAM2
 
Consult the Pubmed abstract
 
Am J Hum Genet. ; 96(6):948-54 ; June 2015
 
Non-syndromic retinitis pigmentosa due to mutations in HGSNAT
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
Hum Mol Genet. ; 24(13):3742-51 ; July 2015
 
Spondylo-ocular syndrome with bone fragility, cataracts and hearing defects linked to frameshift mutations in XYLT2
 
Consult the Pubmed abstract
 
To read more about "Spondylo-ocular syndrome"

 
Am J Hum Genet. ; 96(6):971-8 ; June 2015
 
Osteogenesis imperfecta type 4 caused by homozygous missense mutations in SPARC
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta type 4"

 
Am J Hum Genet. ; 96(6):979-85 ; June 2015
 
Arthrogryposis multiplex congenital due to mutations in GPR126 in three consanguineous families
 
Consult the Pubmed abstract
 
To read more about "Arthrogryposis multiplex congenita"

 
Am J Hum Genet. ; 96(6):955-61 ; June 2015
 
Focal or segmental isolated dystonia linked to recessive mutations in COL6A3
 
Consult the Pubmed abstract
 
Am J Hum Genet. ; 96(6):883-93 ; June 2015
 
Autosomal-dominant myoclonus-dystonia syndrome caused by a missense mutation in KCTD17
 
Consult the Pubmed abstract
 
To read more about "Myoclonus-dystonia syndrome"

 
Am J Hum Genet. ; 96(6):938-47 ; June 2015
 
Myoclonic-astastic epilepsy due to mutations in SLC6A1 in seven individuals
 
Consult the Pubmed abstract
 
To read more about "Myoclonic-astastic epilepsy"

 
Am J Hum Genet. ; 96(5):808-15 ; May 2015
 
Autosomal dominant epilepsy with auditory features associated with heterozygous RELN mutations in seven families
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant epilepsy with auditory features"

 
Am J Hum Genet. ; 96(6):992-1000 ; June 2015
 
Temporal lobe epilepsy caused by GAL pathogenic mutations
 
Consult the Pubmed abstract
 
Hum Mol Genet. ; 24(11):3082-91 ; June 2015
 
Rolandic epilepsy and related syndromes: mutations of GABRG2 may increase the risk of disease
 
Consult the Pubmed abstract
 
To read more about "Continuous spikes and waves during sleep"
To read more about "Rolandic epilepsy"

 
Ann Neurol. ; 77(6):972-86 ; June 2015
 
A germline mutation in PBRM1 predisposes to clear cell renal carcinoma
 
Consult the Pubmed abstract
 
To read more about "Clear cell renal carcinoma"

 
J Med Genet. ; 52(6):426-30 ; June 2015
 
Syndromic biliary atresia might be caused by a heterozygous deletion of FOXA2
 
Consult the Pubmed abstract
 
To read more about "Biliary atresia with splenic malformation syndrome"

 
Hum Mutat. ; 36(6):631-7 ; June 2015
 


 
Research in Action
 



 
Clinical Research
 
Prader-Willi syndrome: growth hormone therapy increases the cardiac mass without causing abnormalities of systolic and diastolic function
 
Consult the Pubmed abstract
 
To read more about "Prader-Willi syndrome"

 
J Clin Endocrinol Metab. ; 100(5):2106-14 ; May 2015
 
Gaucher disease type 1: eliglustat maintains hematological and organ volume stability in adults already controlled by enzyme replacement therapy
 
Consult the Pubmed abstract
 
To read more about "Gaucher disease type 1"

 
Lancet ; 385(9985):2355-62 ; June 2015
 
IgG4-related diseases: rituximab is an effective treatment
 
Consult the Pubmed abstract
 
Ann Rheum Dis. ; 74(6):1171-7 ; June 2015
 
Acromegaly: addition of clomiphene citrate should be considered an option in male patients not controlled by other options
 
Consult the Pubmed abstract
 
To read more about "Acromegaly"

 
J Clin Endocrinol Metab. ; 100(5):1863-9 ; May 2015
 
ANCA-associated renal vasculitis: treatment with rituximab or cyclophosphamide does not differ
 
Consult the Pubmed abstract
 
Ann Rheum Dis. ; 74(6):1178-82 ; June 2015
 
Partial lipodystrophy: metreleptin treatment is effective
 
Consult the Pubmed abstract
 
To read more about "Familial partial lipodystrophy"
To read more about "Partial acquired lipodystrophy"

 
J Clin Endocrinol Metab. ; 100(5):1802-10 ; May 2015
 
Central precocious puberty: histrelin implant therapy provides sustained gonadotropin suppression and improves predicted adult height
 
Consult the Pubmed abstract
 
To read more about "Central precocious puberty"

 
J Clin Endocrinol Metab. ; 100(6):2354-63 ; June 2015
 
Congenital hypogonadotropic hypogonadism: same efficiency for sequential versus continual purified urinary FSH/human chorionic gonadtrophin in men
 
Consult the Pubmed abstract
 
To read more about "Congenital hypogonadotropic hypogonadism"

 
J Clin Endocrinol Metab. ; 100(6):2449-55 ; June 2015
 
Systemic sclerosis: rituximab improves skin fibrosis and prevents worsening of lung fibrosis
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Ann Rheum Dis. ; 74(6):1188-94 ; June 2015
 
Juvenile idiopathic arthritis: efficacy and safety of tocilizumab
 
Consult the Pubmed abstract
Consult this Italian study on Orphanet
Consult this French study on Orphanet

 
To read more about "Juvenile idiopathic arthritis"

 
Ann Rheum Dis. ; 74(6):1110-7 ; June 2015
 
Behçet disease: peginterferon-α-2b reduces corticosteroid requirement
 
Consult the Pubmed abstract
 
To read more about "Behçet disease"

 
Ann Rheum Dis. ; 74(6):1138-44 ; June 2015
 
Myelofibrosis with myeloid metaplasia: higher-risk patients benefits from allogeneic stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Myelofibrosis with myeloid metaplasia"

 
Blood ; 125(21):3347-50 ; May 2015
 
CD4+/CD56+ hematodermic neoplasm: long-term survival following autologous stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "CD4+/CD56+ hematodermic neoplasm"

 
Blood ; 125(23):3559-62 ; June 2015
 
Hepatocellular carcinoma: adjuvant immunotherapy increases recurrence-free and overall survival
 
Consult the Pubmed abstract
 
To read more about "Hepatocellular carcinoma"

 
Gastroenterology ; 148(7):1383-1391 ; June 2015
 
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a French national survey
 
Consult the Pubmed abstract
 
To read more about "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"

 
J Clin Endocrinol Metab. ; 100(6):2303-13 ; June 2015
 
Multiple system atrophy: natural history in USA
 
Consult the Pubmed abstract
 
To read more about "Multiple system atrophy"

 
Lancet Neurol. ; 14(7):710-9 ; July 2014
 
Therapeutic Approaches
 

 
Fabry disease: blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in mice
 
Consult the Pubmed abstract
 
To read more about "Fabry disease"

 
Hum Mol Genet. ; 24(11):3181-91 ; June 2015
 
Infantile hypophosphatasia: enzyme replacement with mineral-targeted TNAP prevents craniosynostosis and skeletal abnormalities in mice
 
Consult the Pubmed abstract
 
To read more about "Infantile hypophosphatasia"

 
Bone ; 78:203-11 ; September 2015
 
Retinitis pigmentosa: gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in mice
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
Hum Mol Genet. ; 24(11):3104-18 ; June 2015
 
Achromatopsia: vitreal delivery of adeno-associated virus serotype 8 restores cone function in mice
 
Consult the Pubmed abstract
 
To read more about "Achromatopsia"

 
Hum Mol Genet. ; 24(13):3699-707 ; July 2014
 
Schistosomiasis: recombinant adeno-associated virus serotype 8 protects mice against lethal infection through attenuation of hepatic fibrosis
 
Consult the Pubmed abstract
 
To read more about "Schistosomiasis"

 
Hepatology ; 61(6):2008-17 ; June 2015
 
Krabbe disease: combined gene/cell therapies provide long-term rescue of multiple pathological symptoms
 
Consult the Pubmed abstract
 
To read more about "Krabbe disease"

 
Hum Mol Genet. ; 24(12):3372-89 ; June 2015
 
Multiple myeloma: a review of current murine models
 
Consult the Pubmed abstract
 
To read more about "Multiple myeloma"

 
Bone ; 77:57-68 ; August 2015
 
Recombinant adeno-associated virus vectors in the treatment of rare diseases: a review
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 3(6):675-689 ; June 2015
 
Diagnostic Approaches
 

 
Human dilated cardiomyopathy: atlas of the clinical genetics
 
Consult the Pubmed abstract
 
Eur Heart J. ; 36(18):1123-35 ; May 2015
 
Chronic myelomonocytic leukemia: characteristic repartition of monocyte subsets as a diagnostic signature
 
Consult the Pubmed abstract
 
To read more about "Chronic myelomonocytic leukemia"

 
Blood ; 125(23):3618-26 ; June 2015
 
Alkaptonuria: a review on diagnostic tools
 
Consult the abstract
 
To read more about "Alkaptonuria"

 
Expert Opinion on Orphan Drugs ; 3(6):705-717 ; June 2015
 


 
Patient Management and Therapy
 
Brugada syndrome: review on novel therapeutic strategies
 
Consult the abstract
 
To read more about "Brugada syndrome"

 
Expert Opinion on Orphan Drugs ; 3(6):633-651 ; June 2015
 
Paroxysmal nocturnal hemoglobinuria: review on complement inhibition
 
Consult the abstract
 
To read more about "Paroxysmal nocturnal hemoglobinuria"

 
Expert Opinion on Orphan Drugs ; 3(6):691-704 ; June 2015
 
Autoimmune hemolytic anemia, warm type: review on the role of rituximab
 
Consult the Pubmed abstract
 
To read more about "Autoimmune hemolytic anemia, warm type"

 
Blood ; 125(21):3223-9 ; May 2015
 
Leishmaniasis: review on miltefosine for the treatment
 
Consult the abstract
 
To read more about "Leishmaniasis"

 
Expert Opinion on Orphan Drugs ; 3(6):727-735 ; June 2015
 
Non-Hodgkin lymphoma: review on pixantrone for the treatment
 
Consult the abstract
 
To read more about "Non-Hodgkin lymphoma"

 
Expert Opinion on Orphan Drugs ; 3(6):747-757 ; June 2015
 
Chronic myeloid leukemia: review on the role of stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Chronic myeloid leukemia"

 
Blood ; 125(21):3230-3235 ; May 2015
 
Multiple myeloma: reviews on treatment
 
Consult the abstract
Consult the Pubmed abstracts

 
To read more about "Multiple myeloma"

 
Expert Opinion on Orphan Drugs ; 3(6):653-661 ; June 2015
Blood ; 125(20):3076-3084, 3085-3099, 3059-3068, 3049-3058, 3069-3075 ; May 2015
 
Rare skeletal diseases: review on mechanistic and therapeutic insights
 
Consult the Pubmed abstract
 
Bone ; 76:67-75 ; July 2014
 
Primary hyperoxaluria: a review
 
Consult the abstract
 
To read more about "Primary hyperoxaluria"

 
Expert Opinion on Orphan Drugs ; 3(6):663-673 ; June 2015
 
Two new and seven 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. Two new GeneReviews have been published for:
ACTG2-related disorders
Riboflavin transporter deficiency neuronopathy

Seven updated GeneReviews have been published for:
Heritable pulmonary arterial hypertension
PNPLA6-related disorders
Polycystic kidney disease, autosomal dominant
Refsum disease
X-linked spondyloepiphyseal dysplasia tarda
Hypomyelination and congenital cataract
McKusick-Kaufman syndrome

 


 
Grants
 

 
Fondation Jerome Lejeune grant application
 
Scientific Advisory Board of the Jérôme Lejeune Foundation invites submission from research projects aiming at deciphering the pathophysiology of the cognitive deficits of patients, especially those with trisomy 21 (Down syndrome) and other rare abnormalities such as fragile X, cri du chat, Rett, Williams-Beuren, Prader-Willi, Angelman, and other syndromes, excluding autism. - See more
 
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

 
The Histiocytosis Association Call for proposals
 
The Histiocytosis Association is pleased to announce that our 2015 Research Program is now accepting proposals focusing on the causes, mechanisms, and improved means of treatment for histiocytic disorders. Proposals must be received online by July 1, 2015. Grant awards will be up to $50,000 USD each.
For further information

 


 
Partnersearch, Job Opportunities
 
ECRIN ERIC job vacancies
 
ECRIN‐Eric is currently in the process of recruiting for its office based in Paris (France) a Capacity Project Manager, an Operations Project Manager and a Secretary. This is a unique opportunity for a motivated individual who wishes to further develop his/her career in biomedical research and his/her experience of multinational research projects. The ECRIN Capacity Project Manager will be in charge of the project management for the structuring projects with ECRIN involvement.
For further information

 


 
Courses & Educational Initiatives
 

 
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.

 
3rd International Summer School on Rare Disease and Orphan Drug Registries
 
Date: 21-23 September, 2015
Venue: Rome, Italy

The School will train participants on the methodologies and resources available for the establishment of a clinical research registry and on the implementation of successful strategies to ensure long time sustainability of the registry, including data sharing and dissemination activities.
For further information

 
RD-Connect Workshop Data linkage and ontologies
 
Date: 24-25 September, 2015
Venue: Rome, Italy

The RD-Connect (http://rd-connect.eu) workshop will allow attendants to learn new concepts and tools for applying ontologies to their data and make them interoperable with other data coming from different sources.
For further 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.

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

This course is designed for paediatricians and (child) neurologists with 2-5 years’ clinical experience in the metabolic field. Further information can be found here
in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September

 
European Cytogenetesists Association
 
Date: February/March of each year
Venue: Nimes, France

This course 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. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

 


 
What's on Where?
 

 
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

 
Alpha–1 Foundation National Education Conference
 
Date: 24-26 July, 2015
Venue: California, US

The conference encourages you to network with other Alphas, take charge of your health and to get involved in the Alpha-1 Community through local support groups, research, awareness activities and advocacy.
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

 
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

 
1st Australasian Undiagnosed Disease Program (UDP) Workshop
 
Date: 13-14 August, 2015
Venue: Queensland, Australia

The conference works towards progressing clinical and translational pathways to achieve definitive diagnoses in previously undiagnosed patients.
For further information

 
International MJD conference
 
Date: 28-29 August, 2015
Venue: Queensland, Australia

The conference theme of “excellence in research - a world of hope” will bring together people from around the world-scientists, health care professionals, and families - to share experience and knowledge of Machado Joseph Disease.
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

 
VII International Congress Cornelia de Lange Syndrome
 
Date: 9-12 September, 2015
Venue: Porto, Portugal

The conference will include a discussion on how to achieve our children’s potential, regardless their disease. Side by side, medical, scientists and parents will fight in order to bring a brighter future to all the marcos of all over the world.
For further information

 
The Canadian Organization for Rare Disorders Annual General Meeting
 
Date: 22 September, 2015
Venue: Teleconference

All individual, affiliate and corporate members of CORD in good standing are invited participate at the Annual General Meeting.
For further information

 
UMIB Summit 2015
 
Date: 24-25 September, 2015
Venue: Porto, Portugal

The UMIB Summit 2015 aims at gathering national and foreign researchers working in clinical research and clinically-oriented basic research, who present their research lines, promote the exchange of work experiences and establish synergies that allow the creation of international consortia for the implementation of strategic projects in the field of biomedicine.
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

 
9th Annual Sickle Cell and Thalassaemia Advanced Conference
 
Date: 7 – 9 October, 2015
Venue: London, UK

This annual conference is now in its 9th year and is well established as one of the leading events in the world, providing an international forum for dialogue and interaction between the leading world experts in Sickle Cell Disease (SCD) and Thalassaemia and health care professionals at the frontline of care.
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

 
Xth Annual ICORD Meeting, part of the Global Rare Diseases Week, Mexico
 
Date: 15-16 October (ICORD), 12-16 October (Global Rare Disease Week, Mexico)
Venue: Mexico City, Mexico

ICORD 2015 will be held in México FD (México) 15-16 October in association with FEMEXER (the Mexican Federation of Rare Diseases) and GEISER Foundation (the Group of Linkage, Research and Support for Rare Diseases in Latin America). The event is part of the “Global Rare Diseases Week, Mexico 2015″ and back to back with the 4th Latin American meeting of Rare Diseases on October 12 and the Discoveries and Innovations in Orphan Drugs Congress, October 13-14.
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

 
Sixth Croatian Congress of Human Genetics
 
Date: 5-7 November, 2015
Venue: Zagreb, Croatia

This conference will be an opportunity for education of the young interested in new achievements in various areas of genetics – clinical genetics, cytogenetics, molecular genetics and anthropology, and also to highlight the importance of prevention, diagnostics and treatment of rare diseases.
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

 
Statistical analysis of massive genomic data
 
Date: 19-20 November, 2015
Venue: Evry, France

This two-day cross-disciplinary conference will bring together biologists, geneticists, clinicians, bioinformaticians and statisticians in order to discuss emerging challenges raised by the analysis of high-throughput genomic data, and present dedicated innovative approaches.
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 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.
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)
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