17 September 2016 print
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Editorial
 
ELIXIR releases its annual report
 
ELIXIR aims to orchestrate the collection, quality control and archiving of large amounts of biological data produced by life science experiments, thus making it easily available to researchers internationally. The ELIXIR Platforms comprise Data, Tools, Interoperability, Compute and Training, forming the basic operational units within ELIXIR. They have released their annual report which details the new phase that expands resources and brings together expertise, at the same time concentrating on service delivery.

The report details that the the five technical platforms - Tools, Data, Compute, Interoperability and Training to be used in Plant sciences, Marine metagenomics, Rare diseases and Human data are now fully operational. According to the report the Horizon 2020 ELIXIR-EXCELERATE grant launched in 2015, will accelerate the implementation of the ELIXIR scientific programme and integrate ELIXIR bioinformatics resources into a coherent portfolio of infrastructure services. They also built strong collaborations. In the beginning of 2015 ELIXIR had 12 Members and six Observers and welcomed France, Spain and Belgium, which completed the ratification process and became fully integrated into ELIXIR activities. Other countries are in the preparatory phase and have joined as observers and expanding outside Europe.

As particular interest to the Rare Disease field, the report describes the main goals of the ELIXIR Rare Disease Use Case which are to:
• "Build an ELIXIR portfolio of data resources and analysis tools critical for the rare disease research community;
• Implement a technical framework for the comparison and standardisation of services useful for this community;
• Arrange training courses, workshops and hackathons to train rare disease researchers to use ELIXIR services and capture the specific service requirements of this community."


Prof. Kate Bushby was appointed in ELIXIR’s Scientific Advisory Board this year to offer advice to the ELIXIR board on rare diseases.
According to the report, in 2015 "ELIXIR launched a joint initiative with RD-CONNECT, Biobanking and Biomolecular Resources Research Infrastructure – the Netherlands (BBMRI-NL) and BBMRI-ERIC to create a federated infrastructure for access to rare-disease repositories throughout Europe.".

Additionally, in the framework of the ELIXIREXCELERATE Rare Disease Use Case, "ELIXIR will test different technologies and find those best suited to link different resources and tools to better serve the rare disease community."

France became a member of ELIXIR in October 2015. The French node of ELIXIR is the French Institute of Bioinformatics and Orphanet officially became its 30th platform in 2015. Orphanet will participate in the ELIXIR implementation study for rare diseases in the context of EXCELERATE project. Its aims, among others, is to provide standards for the exchange of rare disease data and work with the communities of rare diseases towards organising training and workshops. A key objective of ELIXIR is to work towards the sustainability of resources and tools such as those offered by Orphanet, strategic measure for the future Orphanet.
Read the Report

 


 
National & International Policy Developments
 
Other European news
 
Review on clinical genetics and genomics in Spain
 
Genetics and Genomic Medicine around the World has published an exhaustive review on how the past, present and future of clinical genetics in Spain. The article puts the advent of genetics and genomics in Spain in a historical and economic perspective. They also put it in the context of the demographics and the screening programmes including newborn screening in the country. The authors finally describe the genetic and clinical services as well as the cutting edge research performed in this area by CIBERER. According to them CIBERER has recommended that the Spanish government should facilitate the creation of genomic centres, following other European countries like France, Germany, UK and Italy.
Read the Open Access article

 
Survey of medical genetic services in Italy: year 2011
 
A study published in BMC Health Services Research reports on the genetic services provided in Italy. The authors collected data from various genetic service structures, most of which were accredited centres. According to the authors, the study showed that although there were many services across the country, they were not equally distributed. Additionallys, there was a need to increase quality assessment measures as well as implementation of good clinical practices and evidence based medicine.

The authors state that “the finding that 70 % of all molecular analyses performed in 2011 was related to only 15 disease-genes, strongly supports the need for a revision of the national molecular diagnostic network.”
Read the Open Access article

 
Other International News
 
Rethinking genetic testing services in the Arab Gulf region
 
The large number of consanguineous marriage, is responsible for the high frequency of genetic diseases in the Gulf countries. According to the authors of an article published in Journal of Human Genetics, the lack of infrastructure in these countries, molecular diagnostic testing of the samples are sent to the West. The results they receive are often come as negative or inconclusive, which the authors state may be because the novel mutations and different common mutation observed in this population, compared to the West. This has propelled authors to urgently call for restructuring genetic testing programs in the Arabian Gulf.

Even though Saudi Arabia and Qatar have launched large scale genome sequencing programmes, the authors believe that more needs to be done. They recommend investing in better infrastructure and a parallel research programme in order to provide care that is customized to their population. The authors also caution that the strong religious beliefs and sense of social stigma that is prevalent in this region can pose a serious challenge to the implementation of these initiatives.
Access the article through the Nature magazine website

 
State of rare disease management in Southeast Asia
 
An article published in the Orphanet Journal of Rare Diseases consists of information from six Southeast Asian countries on management of rare diseases based on the World Health Organization’s framework for action in strengthening health systems. The authors conclude that even through these is some progress “rare disease management remains challenging across Southeast Asia”. They also compare the facilities in these countries to France, Canada, Australia, Taiwan, and South Korea, which they consider to follow best practices in rare disease management. According to the authors “Southeast Asian countries have made significant progress in the management of rare disease, but there remain key areas for substantial development opportunities.”
Read the Open Access article

 
Guidance Documents and Recommendations
 
Pompe disease: guidelines for diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Can J Neurol Sci. ; 43(4):472-85 ; July 2016
 
Alpha-1-antitrypsin deficiency: recommendations for the diagnosis and management
 
Consult the abstract
 
To read more about "Alpha-1-antitrypsin deficiency"

 
Chronic Obstr Pulm Dis (Miami) ; 3(3): 668-682 ; 2016
 
Presymptomatic amyotrophic lateral sclerosis: recommendations for genetic counseling and testing
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Neurology ; 86(24):2295-302 ; June 2016
 
Bioinformatics, Registries and Data Management
 
GENIALL: GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency
 
GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), is a 15-year registry focusing on Lipoprotein Lipase Deficiency (LPLD) was launched in 2014. This was part of the Risk Management Plan for the gene therapy – GLYBERA. An review published in Atherosclerosis describes the challenges encountered while setting up a registry and how they were circumvented. According to the authors GENIALL will be the first to collect physician and patient generated data, globally, on the natural course of LPLD as well as long term outcomes for the therapy.
Access the article through ScienceDirect

 
Genomiser scores non-coding variants and associates variants to mendelian diseases
 
According to an article published in The American Journal of Human Genetics, the Genomiser tool is able to score the variation in the non-coding segments of the genome and at the same time “associate regulatory variants to specific Mendelian diseases”. According to the authors, Genomiser utilises CADD or machine learning from which “simulations performed for more than 10,000 case subjects were able to recover the correct regulatory variant in first place in 77% of diagnostic genomes.”
Read the Open Access article

 
Rethinking variant information linked to rare diseases
 
Nature has recently published an article which is purportedly the largest catalogue of human protein coding region variants containing data from around 60,000 individuals, performed by the Exome Aggregation Consortium (http://exac.broadinstitute.org). They have identified more than 7.4 million variants and utilise the catalogue to calculate objective metrics for pathogenicity. An editorial published in the same issue has pointed out that interestingly 3,230 genes with depleted predicted protein show almost no cases of loss of function and “more than two-thirds have not been linked to disease.”

Additionally, the article reports that variants linked to rare diseases show up at an rate implausibly common rate in the population. In fact variants that supposedly cause rare mendelian disorders rarely supported pathogenicity. Thus the authors of the article believe that the tool developed by them acts as a “powerful filter for analysis of candidate pathogenic variants in severe Mendelian diseases”. According to the editorial “these findings show that researchers and clinicians must carefully evaluate published results on rare genetic disorders. “
Access the article through the Nature magazine website

 
Comparison of orphanet expert query and query based on terminology knowledge
 
An article published in BMC Medical Informatics and Decision Making has provided terminology queries linked to each rare disease terms in Orphanet and evaluated them. According to the authors there were no significant differences between the Orpha query and terminological query in terms of precision. Additionally, terminological queries retrieved more citations more often than Orpha queries.
Read the Open Access article

 
Screening and Testing
 
Next generation sequencing driven diagnosis of ultra-rare disease
 
A review published in Genomics and Informatics provide examples of recent studies of the successful diagnosis of ultra-rare diseases by utilising next generation sequencing (NGS). According to the authors, ultra rare diseases are characterised by de novo mutation- the phenotype of which have not yet been described. Although they start with a non-ultra-rare disease Cystic Fibrosis, diagnosis using NGS of other ultra-rare diseases was also described. The article also provides an insight into how potential obstacles to wider adoption of NGS can be tackled.
Read the Open Access article

 


 
Ethical, Legal & Social Issues
 
Swapping competition for collaboration in rare disease research
 
Critiquing how scientific research is practiced currently, a paper published in Expert Opinion on Orphan Drugs explains the importance and the future of collaborative research. According to the authors, competitiveness that is inherent in scientific research to publish first, in order to obtain finances, patent, or competitive grants hampers the advancement of knowledge data sharing can bring. The authors believe that thoughtful and well-designed collaborative research that encompasses overt and negotiated activities can bring about true progress in rare disease research.

The article highlight initiatives that encourage a collective approach such as the Global Rare Diseases Registry Repository, sponsored by the National Center for Advancing Translational Science, in the United States. The work of International Rare Disease Research Consortium and ERA-Net for Research Programmes on Rare Diseases are also significant in this respect.
Read the Open Access article

 
A framework for informed consent process rare disease research
 
An article published in the European Journal of Human Genetics has provided a set of principles that would help deal with challenges associated with informed consent in rare disease research. Since patients in rare disease research are limited and with the advent of new technologies, guidelines for informed consent is imperative to address ethical and legal hurdles. The authors provide guidelines for new and established registries, which are currently practiced by the RD-Connect consortia. The authors believe that these set of principles will help data sharing internationally.
Read the Open Access article

 
Parenting a child with metabolic diseases: Impact on health related quality of life of parents
 
The health related quality of life of the parents of children with inborn errors of metabolism was assessed among the outpatient population in Sultan Qaboos University Hospital, Oman. Published in Diabetes & Metabolic Syndrome: Clinical Research & Reviews, this study showed that parents with higher educational qualifications, higher monthly income and younger age had a higher HRQoL. Additionally, a strong support system and help towards preparing special diets for the child also played a role in predicting the parents HRQoL.
Access the article through ScienceDirect

 
Health care infrastructure for financially sustainable clinical genomics
 
The Journal of Molecular Diagnostics has published an article addressing the challenges towards reimbursement for next generation sequencing and propose a human pipeline to achieve long-term financial sustainability of clinical genomics. In this study the authors implemented eight functionally distinct modules of Agile – a developmental module and obtained feedback via an anonymous survey. Using this methodology authors were able to obtain preauthorization in 70% of cases which was reimbursed in 50%.
Read the Pubmed abstract

 
Rare disease patient organisations and media in Spain
 
The importance of good communication strategies towards bringing awareness for rare diseases is stressed in a study published in Ciência & Saúde Coletiva. The authors of this article describe how patient organisations led activism has been instrumental in the progress made in rare diseases. The efforts made by FEDER in collaboration with the Spanish government to increase awareness through the media us generously described. They provide an exhaustive analysis of the media portrayal of rare diseases in Spanish press, radio, television and social networks.

Key findings include the increase of rare disease awareness over the past 3 years, with radio providing the most exposure. The authors believe that this exposure brought in more membership but not donations. The authors also provide a profile of personnel in the communication department of rare diseases which showed “that the majority of organizations do not have a specific person responsible for communications due to lack of resources and time.” The authors believe that despite obstacles patients organisations have paid a key role in utilising diverse media to generate awareness and progress the rare disease patient agenda.
Read the Open Access article

 
The ethical debate: de-identification and re-identification of individuals in rare disease research
 
A paper published in the European Journal of Human Genetics addressed a conundrum that is prevalent while collecting data for rare disease research. Here the authors recognise the importance of de-identification of the samples to protect the confidentiality of the participants. However, they recognise the ethical conundrum that researchers are often faced with the re-identification of these samples, which is sometimes necessary to perform rare disease research. The authors discuss the pros and cons of de-identification and re-identification of samples. They also provide alternatives and solutions for de-identification such as an open and transparent information and consent processes, using encrypted identifiers.
Read the Open Access article

 
Duchenne muscular dystrophy and cardio-respiratory failure: the need for intervention to reduce early mortality
 
A study published in the European Paediatric Neurology Society assessed the mortality of patients with Duchenne muscular dystrophy (DMD) in North East England. They found that although there were many concerns among these patients, cardio-respiratory failure was the main cause of death among DMD patients. According to the authors, treatment of organs systems is imperative to minimize the risk of untimely death among these patients.
Read the Pubmed abstract

 


 
New Syndromes
 



 
MIRAGE syndrome, a novel multisystem disorder, caused by SAMD9 mutations
 
The authors defined a new form of syndromic adrenal hypoplasia, which they proposed to term MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) syndrome. By exome sequencing and follow-up studies, they identified 11 patients with adrenal hypoplasia and common extra-adrenal features harbouring mutations in SAMD9.
Consult the Pubmed abstract

 
Nat Genet. ; 48(7):792-7 ; July 2016
 
Airway-centered fibroelastosis identified in five women
 
The authors identified five non-smoking women with prominent airway-centered elastosis characterised by extensive airway-centered fibroelastosis of the upper lobes on histopathology and marked bronchial abnormalities with bronchial wall thickening, bronchial wall deformation, and bronchiectasis, along with progressive parenchymal retraction and predominantly subpleural upper-lobe consolidations. Patients experienced chronic dyspnea with acute attacks of wheezing and dyspnea. Moderate to severe physiological abnormalities were observed, with an obstructive pattern in three cases and a restriction in two. Despite inhaled and oral corticosteroids, the disease was progressive in all patients and evolved to chronic respiratory failure, requiring lung transplantation in two patients. Four patients had chronic asthma.
Consult the Pubmed abstract

 
Chest ; 149(3):767-74 ; March 2016
 


 
New Genes
 



 
15q24 microdeletion syndrome phenotype linked to SIN3A dominant mutations
 
Consult the Pubmed abstract
 
To read more about "15q24 microdeletion syndrome"

 
Nat Genet. ; 48(8):877-87 ; August 2016
 
Congenital intrauterine infection-like syndrome associated with loss of function of PCDH12
 
Consult the Pubmed abstract
 
To read more about "Congenital intrauterine infection-like syndrome"

 
Neurology ; 86(21):2016-24 ; May 2016
 
Congenital glaucoma due to mutations of COL1A1
 
Consult the Pubmed abstract
 
To read more about "Congenital glaucoma"

 
Orphanet J Rare Dis. ; 11(1):108 ; August 2016
 
Limb girdle muscular dystrophy type 2V linked to GAA variants
 
Consult the Pubmed abstract
 
Neurology ; 87(1):71-6 ; July 2016
 
Adult T-cell leukaemia/lymphoma might be caused by oncogenic somatic mutations in FBXW7
 
Consult the Pubmed abstract
 
To read more about "Adult T-cell leukemia/lymphoma"

 
Proc Natl Acad Sci U S A. ; 113(24):6731-6 ; June 2016
 
Combined pulmonary fibrosis-emphysema syndrome: NAF1 as a susceptibility gene
 
Consult the Pubmed abstract
 
To read more about "Combined pulmonary fibrosis-emphysema syndrome"

 
Sci Transl Med. ; 8(351):351ra107 ; August 2016
 
Pancreatic carcinoma risk variant in LINC00673
 
Consult the Pubmed abstract
 
To read more about "Familial pancreatic carcinoma"

 
Nat Genet. ; 48(7):747-57 ; July 2016
 


 
Research in Action
 



 
Clinical Research
 
Fabry disease: treatment with migalastat does not modify patients’ response compared to placebo
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Fabry disease"

 
N Engl J Med. ; 375(6):545-55 ; August 2016
 
Haemophilia A: administration of emicizumab decreases the bleeding rate
 
Consult the Pubmed abstract
 
To read more about "Hemophilia A"

 
N Engl J Med. ; 374(21):2044-53 ; May 2016
 
Bilateral vestibulopathy: white noise galvanic vestibular stimulation improves dynamic walking stability
 
Consult the Pubmed abstract
 
To read more about "Idiopathic bilateral vestibulopathy"

 
Neurology ; 86(23):2196-202 ; June 2016
 
Myasthenia gravis: thymectomy improves clinical outcomes over a 3-year period
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Myasthenia gravis"

 
N Engl J Med. ; 375(6):511-22 ; August 2016
 
Cutaneous neuroendocrine carcinoma: first-line therapy with pembrolizumab is associated with an objective response rate of 56%
 
Consult the Pubmed abstract
 
To read more about "Cutaneous neuroendocrine carcinoma"

 
N Engl J Med. ; 374(26):2542-52 ; June 2016
 
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
 
Consult the Pubmed abstract
 
Nat Biotechnol. ; 34(5):531-8 ; May 2016
 
CHST3-related skeletal dysplasia: hearing loss as a phenotype extension
 
Consult the Pubmed abstract
 
To read more about "CHST3-related skeletal dysplasia"

 
Clin Genet. ; 90(1):90-5 ; July 2016
 
Therapeutic Approaches
 

 
Review on urine-derived induced pluripotent stem cells as a modeling tool to study rare human diseases
 
Consult the article
 
Intractable & Rare Diseases Research ; 5(3):192-201 ; 2016
 
Mitochondrial pyruvate carrier deficiency: embryonic lethality can be rescued by a ketogenic diet in mice
 
Consult the Pubmed abstract
 
To read more about "Mitochondrial pyruvate carrier deficiency"

 
PLoS Genet. ; 12(5):e1006056 ; May 2016
 
Huntington disease: human mesenchymal stem cells genetically engineered to overexpress brain-derived neurotrophic factor improve outcomes in mouse models
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
Mol Ther. ; 24(5):965-77 ; May 2016
 
Twin to twin transfusion syndrome: non-invasive high-intensity focused ultrasound treatment can occlude in vivo placental vessels and ablate blood flow in a pregnant sheep model
 
Consult the Pubmed abstract
 
To read more about "Twin to twin transfusion syndrome"

 
Sci Transl Med. ; 8(347):347ra95 ; July 2016
 
Thrombocytopenia: non-invasive low-level laser therapy cures the disease within two weeks in mice
 
Consult the Pubmed abstract
 
Sci Transl Med. ; 8(349):349ra101 ; July 2016
 
Retinitis pigmentosa: adeno-associated virus-mediated gene therapy halts retinal degeneration in dogs
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
Mol Ther. ; 24(5):867-76 ; May 2016
 
Modafinil improves pulmonary arterial hypertension by vasorelaxation and a decrease in medial thickening in a rat model
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"

 
Pediatr Res. ; 80(1):119-27 ; July 2016
 
Gaucher disease: Genz-682452, an inhibitor of glucosylceramide synthase, is effective at attenuating several of the neuropathologic and behavioural manifestations in mice
 
Consult the Pubmed abstract
 
To read more about "Gaucher disease"

 
Mol Ther. ; 24(6):1019-29 ; June 2016
 
Duchenne muscular dystrophy: augmenting β1-integrin activity with a monoclonal antibody enhances regeneration and function of dystrophic muscles in mdx mice
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Nat Med. ; 22(8):889-96 ; August 2016
 
Spinal muscular atrophy with respiratory distress type 1: intracerebroventricular injection of single-stranded AAV9 increases survival, weight gain, and strength in mice
 
Consult the Pubmed abstract
 
To read more about "Spinal muscular atrophy with respiratory distress type 1"

 
Mol Ther. ; 24(5):855-66 ; May 2016
 
Zika virus disease: interferon induced transmembrane protein 1 and 3 inhibit infection early in the viral life cycle
 
Consult the Pubmed abstract
 
To read more about "Zika virus disease"

 
Cell Rep. ; 15(11):2323-30 ; June 2016
 
Epigenetic activation of the drug transporter OCT2 by decitabine sensitises renal cell carcinoma cells to oxaliplatin both in vitro and in xenografts
 
Consult the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Sci Transl Med. ; 8(348):348ra97 ; July 2016
 
Diagnostic Approaches
 

 
Mitochondrial diseases: comparison of current serum biomarkers as diagnostic indicators
 
Consult the Pubmed abstract
 
Neurology ; 86(21):2010-5 ; May 2016
 
Alpha-1-antitrypsin deficiency: results from a large targeted screening program
 
Consult the Pubmed abstract
 
To read more about "Alpha-1-antitrypsin deficiency"

 
Orphanet J Rare Dis. ; 11(1):75 ; June 2016
 
Adult neuronal ceroid lipofuscinosis: diagnosis and misdiagnosis
 
Consult the Pubmed abstract
 
To read more about "Adult neuronal ceroid lipofuscinosis"

 
Neurology ; 87(6):579-84 ; August 2016
 


 
Patient Management and Therapy
 
Sickle cell anaemia: review on pharmacogenetics for safe codeine use
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
Pediatrics ; 138(1) ; July 2016
 
Inborn liver metabolic defects: review on advances and current challenges in cell therapy
 
Consult the Pubmed abstract
 
Stem Cells Transl Med. ; 5(8):1117-25 ; August 2016
 
Review on CRISPR/Cas for the treatment of eye diseases
 
Consult the Pubmed abstract
 
Prog Retin Eye Res. ; 53:1-20 ; July 2016
 
Autosomal dominant cerebellar ataxia: review on genetics and therapeutics
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant cerebellar ataxia"

 
Neurology ; 86(24):2284-90 ; June 2016
 
Facioscapulohumeral dystrophy: review on mRNA for the treatment
 
Consult the abstract
 
To read more about "Facioscapulohumeral dystrophy"

 
Intractable & Rare Diseases Research ; 5(3):168-176 ; 2016
 
Peripheral T-cell lymphoma: review on chidamide for the treatment
 
Consult the abstract
 
Intractable Rare Dis Res. ; 5(3):185-191 ; 2016
 
Review on menstrual management for adolescents with disabilities
 
Consult the Pubmed abstract
 
Pediatrics ; 138(1) ; July 2016
 
Rare forms of diabetes: a review
 
Consult the Pubmed abstract
 
To read more about "MODY"
To read more about "Neonatal diabetes mellitus"

 
Nat Rev Endocrinol. ; 12(7):394-406 ; July 2016
 
Juvenile spondyloarthropathies: a review
 
Consult the Pubmed abstract
 
Curr Rheumatol Rep. ; 18(8):55 ; August 2016
 
Genodermatoses: a review
 
Consult the Pubmed abstract
 
Dermatol Clin. ; 34(3):303-10 ; July 2016
 
Systemic sclerosis: review on erectile dysfunction
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Curr Rheumatol Rep. ; 18(8):49 ; August 2016
 
Aggrecan-related bone disorders: a review
 
Consult the Pubmed abstract
 
To read more about "Spondyloepiphyseal dysplasia, Kimberley type"
To read more about "Spondyloepimetaphyseal dysplasia, aggrecan type"
To read more about "Multiple epiphyseal dysplasia, Al-Gazali type"
To read more about "Familial osteochondritis dissecans"

 
Orphanet J Rare Dis. ; 11(1):86 ; June 2016
 
Birdshot chorioretinopathy: review on pathophysiology, diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Birdshot chorioretinopathy"

 
Orphanet J Rare Dis. ; 11(1):61 ; May 2016
 
Zika virus disease: two reviews
 
Consult the Pubmed abstracts
 
Science ; 353(6300):aaf8160 ; August 2016
BMC Med. ; 14(1):112 ; August 2016
 
Three new and eleven 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:
Woodhouse-Sakati syndrome
Burn-McKeown syndrome
Multicentric osteolysis nodulosis and arthropathy

Eleven updated GeneReviews have been published for:
Cerebral cavernous malformation, familial
Oral-facial-digital syndrome type I
X-linked agammaglobulinemia
NKX2-1-related disorders
Permanent neonatal diabetes mellitus
Wilson disease
Cohen syndrome
Focal dermal hypoplasia
Usher syndrome type II
Congenital myasthenic syndromes
Peutz-Jeghers syndrome

 


 
Orphan Drugs
 
Drug development in Duchenne muscular dystrophy drugs: hope in sight
 
According to an article published in Nature Biotechnology, although drugs for Duchenne Muscular Dystrophy have been slow to receive marketing authorisation, the future looks promising. The drugs in the pipeline include advanced versions of the exon-skipping technology as well as gene therapies. According to the article, a gene therapy trial using truncated dystrophin protein by Mendell is underway, so is a therapy using ‘stereopure’ oligonucleotides to boost exon skipping efficiency and the usage of utrophin to compensate for dystrophin protein. Also described is a coenzyme Q10 analog which counters the effects of reactive oxygen species in the mitochondria, caused by excess calcium influx to be used as therapy for DMD. According to the article “curative therapy for DMD remains some way off, but children born with the condition now have better prospects than any who have preceded them.”
Access the article through the Nature magazine website

 
Patients as key partners in rare disease drug development
 
The expanded role of rare disease patients is crucial for drug development according to the authors of a commentary published in Nature Reviews – Drug Discovery. The authors elucidate how patient engagement can enhance the drug development at each stage (Phase). According to them, in the early stages of drug development, information on the burden of disease as well as the progression of disease symptoms is essential to assess the benefit-risk profiles. This information, according to them, can be most accurately provided by the rare disease patients themselves. Constructing a body of knowledge in this manner to create patient-reported outcomes or clinician-reported outcomes is substantially important later in the drug development process.

The authors believe that early patient engagement is also essential for establishing appropriate end-points and recruiting suitable patients. At later stages it is important to estimate from patients the reasonable goals of the therapy relative to the risks to determine the safety and efficacy of the drugs.

Finally, the authors recommend standardization of “use and review of information collected from patients in regulatory review.”
Read the Open Access article

 


 
Grants
 

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

 
Fondation René Touraine Fellowships
 
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

 
FDA providing USD 2 million in new grants for natural history studies in rare diseases
 
The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases. Deadline: 14 October, 2016
For further information

 
Myotubular trust - seventh call for projects (open to international applications)
 
The Myotubular Trust are holding a seventh call for research projects. They are looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally.

They will look for the following types of application:
1. A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post-Doctoral researcher, or PHD student
2. A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual.
The deadline for receipt of applications is the Wednesday 30th November 2016
For further information

 
9th Call for SMA Research Proposals
 
This new Call for SMA Projects will be open to any research project (those of a collaborative nature are encouraged) aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. Priority will, however, be given to projects concentrating on the following areas:

a. Understanding and Function of the SMN Complex and possibly other factors, independent of SMN, as it relates to the pathophysiology of SMA
b. Innovative Approaches for Therapy of SMA, including targeting non-SMN pathways
c. Projects addressing bottlenecks impairing rapid translation from basic research to clinical trials, including;
•Innovative outcome measures & endpoints
•Appropriate methodology to follow disease progression and treatment effect.
The deadline for receipt of applications is the 8 December 2016.
For more information

 
Medical Research Grant Application Guidelines : Progeria Research Foundation
 
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
 
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

 
Fondation René Touraine Fellowships
 
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

 
FDA providing USD 2 million in new grants for natural history studies in rare diseases
 
The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases. Deadline: 14 October, 2016
For further information

 
Myotubular trust - seventh call for projects (open to international applications)
 
The Myotubular Trust are holding a seventh call for research projects. They are looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally.

We will be looking for the following types of application:
1. A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post-Doctoral researcher, or PHD student
2. A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual.
The deadline for receipt of applications is the Wednesday 30th November 2016
For further information

 
9th Call for SMA Research Proposals
 
This new Call for SMA Projects will be open to any research project (those of a collaborative nature are encouraged) aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. Priority will, however, be given to projects concentrating on the following areas:

a. Understanding and Function of the SMN Complex and possibly other factors, independent of SMN, as it relates to the pathophysiology of SMA
b. Innovative Approaches for Therapy of SMA, including targeting non-SMN pathways
c. Projects addressing bottlenecks impairing rapid translation from basic research to clinical trials, including;
•Innovative outcome measures & endpoints
•Appropriate methodology to follow disease progression and treatment effect.
The deadline for receipt of applications is the 8 December 2016.
For more information

 
NCL Research Award
 
The award is intended to support postdoctoral level fellowships. The foundation encourages junior scientists and clinical researchers worldwide to submit projects that hold promise to help halt or finding a cure for CLN3 disease. They also encourage scientists to apply that work in disease areas outside NCL but relevant to cell and molecular pathways of CLN3 dysfunction. The deadline for receipt of applications is the 31 October 2016.
For more information

 


 
Courses & Educational Initiatives
 

 
MSc Programme (Blended) in Inherited Haemoglobin Disorders
 
This educational Programme is being launched in September 2016. It is a unique Programme, with its faculty including world‐renowned international experts. It is recognized globally and is supported by the European Haematology Association and the International Society of Haematology. You can find more information on the MSc Programme in the following link
 
The First Summer School 2016 in Metagenomics
 
Date: 12-16 September, 2016
Venue: Paris, France The French Institute of Bioinformatics, France Génomique and Institut Pasteur are organizing this summer school. The aim of these 4 days workshop will be to give researchers and students an overview of the tools and bioinformatics techniques available for the analysis of next generation sequence data from microbial communities. Its content will focus on the taxonomic assignment and the functional analysis of metatranscriptomic and metagenomic data. The format will comprise a mixture of lectures and hands-on practical tutorials where students will process example data sets in real-time.
For more information

 
Introducing diagnostic applications of ‘3Gb-testing’ in human genetics
 
Date: 24-27 October, 2016
Venue: Lisbon, Portugal The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions.
For more information

 
Metabolic Myopathies Course
 
Date: 3-5 November, 2016
Venue: Paris, France

Target audience and participant profile: Neurologists, neuromuscular specialists, internists, cardiologists, geneticists, pediatricians, biochemists, willing to improve their knowledge in the diagnosis and treatment of metabolic myopathies + differential diagnosis with other inherited or genetic myopathies. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org or visit www.rrd-foundation.org.

 
Courses offered by Centro Nazionale Malattie Rare
 
A. 4th International Summer School on Rare Disease and Orphan Drug Registries
Date: 26-28 September, 2016
Venue: Rome, Italy

This Summer School, endorsed by ICORD, will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology.
The course will provide participants with useful tools and methodologies to establish, manage and plan the activities of a registry with an overview of new approaches.

B) RD-Connect BYOD Workshop to Link RD Registries
Date: 29-30 September, 2016
Venue: Rome, Italy

The Workshop will be a hands-on experience, where the attendees work with experts to make their data Findable, Accessible, Interoperable, Re-usable (FAIR). The event will consist of preparatory webinars, brief plenary introductions and practical working groups.
For further information
Both events are open to health professionals, researchers, medical specialists, medical students, registries curators, database managers and representatives of patient associations, who are involved in or intend to establish a rare disease patient registry.
A selection process will be applied based on the participant's background and role with reference to registry activities.
For both initiatives the application deadline is: July 10, 2016.

 
European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
 
Date: March, 2017

Venue: Nimes, France


For further information

 
An Online Educational Resource for Limb Girdle Muscle Weakness
 
Limb girdle muscle weakness (LGMW) can result from multiple causes. Early and accurate diagnosis is critical to optimal disease management. The diagnosis can involve clinical, electromyogram, and genetic findings. Patient specific multidisciplinary management plans, including genetic counseling, should be developed. Currently, there are drugs available for some conditions. Many providers lack the skills to provide optimal care due to the heterogeneous presentation, complex diagnosis, and rarity of LGMW disorders.
For further information

 
Orphan Drug and Rare Disease Seminar
 
Date: 18 November, 2016

Venue: Marseille, France

This Eudipharm training seminar aims at raising awareness among clinical research actors on drug development specificities for rare diseases. This edition will offer a first day on regulatory issues and the second day will focus on drug re-positioning and personalised medicine, thanks to the participation of clinical research experts and authorities.
For further information

 


 
What's on Where?
 

 
Rare metabolic disorders: detection, research, management and treatment
 
Date: 20-22 September, 2016
Venue: London, United Kingdom

This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
For further information

 
Symposium on Late Complications after Childhood Cancer 2016
 
Date: 22-23 September, 2016
Venue: Copenhagen, Denmark

The 5th European Symposium on Late Complications after Childhood Cancer is the largest European multidisciplinary event on late complications after treatment of childhood cancer. Attracting a worldwide audience, the Copenhagen 2016 symposium will explore and discuss best practices in the detection and management of late complications after treatment of childhood cancer.
For further information

 
EUCelLEX Final International Conference
 
Date: 22-23 September, 2016
Venue: Paris, France

This International Conference will cover a vast range of topics, related to how “Engaging stakeholders for responsible Stem Cells research”. The aim is to create a Task Force for improving the collaboration of key stakeholders involved in the questions raised by the use of stem cells.
For further information

 
European Paediatric Stroke Symposium 2016
 
Date: 21-22 September, 2016
Venue: Lyon, France

The aim of this symposium is to address challenges of these conditions from a plural point of view, and to bring together multilateral experts in the field to reach high-level scientific discussions.
For further information

 
5th World Congress of Clinical Safety
 
Date: 21-23 September, 2016
Venue: Massachusetts, USA

The Boston Congress is organized by IARMM to improve and promote high advanced safe and clean science and technology. The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental helth & safety, food safety, and other related safety subjects.
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

 
Genetic Alliance UK Conference
 
Date: 27 September, 2016
Venue: London, United Kingdom

The Genetic Alliance UK 2016 conference 'Successful Partnerships' will be an opportunity to get together with representatives of genetic and rare disease groups, hear from leaders in rare disease commissioning and policy as well as from our members on a variety of topics and help us celebrate the examples of partnership that are so central to our community.
For further information

 
5th Angelman international Scientific Conference
 
Date: 30 September - 1 October, 2016
Venue: Lisbon, Portugal

The participants of the conference will have the opportunity to find out the latest discoveries on Angelman Syndrome, a disease for which there is still no cure. Other objectives of this meeting are to define the next targets to be achieved and to exchange knowledge.
For further information

 
Cilia 2016
 
Date: 4-7 October, 2016
Venue: Amsterdam, The Netherlands

The EMBO Conference, Cilia 2016, will highlight both scientific and clinical progress, and uniquely integrate patient perspective.
For further information

 
Danube Conference on Epigenetics
 
Date: 5-8 October, 2016
Venue: Budapest, Hungary

The main objectives are to bring scientists together from these fields of epigenetics and promote their intensive interdisciplinary interactions facilitated by the medium sized meeting. Therefore the conference program is structured to have a lot of networking opportunity.
For further information

 
Latest Developments in Osteogenesis Imperfecta
 
Date: 6-8 October, 2016
Venue: Lisbon, Portugal

This Congress is a joint organisation from the Portuguese OI association and the Spanish OI Foundation and is inserted in a more global project that we called "UNbreakable Alliance". This project aims to stimulate the cooperation between several stakeholders that struggle with the same common objective of making the live of people with OI better. This include, patients organisations, health professionals, industry and families.
For further information

 
29th European haemophilia Consortium Conference
 
Date: 7-9 October, 2016
Venue: Stavanger, Norway

For further information

 
Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference
 
Date: 10 October, 2016
Venue: Vigo, Spain

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference aimed at medical and scientific professionals. Hosted by Professor Diana Valverde, in Vigo, Spain, Monday 10th October 2016. Contact AS EU Managing Director kay.parkinson@alstromsyndrome.eu

 
Melorheostosis Association Conference 2016
 
Date: 14 October, 2016
Venue: Rochestor, United States of America

For further information

 
RDCRN Conference on Clinical Research for Rare Diseases 2016
 
Date: 19 October, 2016
Venue: Washington D.C., United States of America

Attendees have the opportunity to:
• Meet key leaders in rare diseases research.
• Engage in formal and informal networking and idea generation with other trainees and investigators. • Discuss career development and strategic planning for academic success.
• Explore research collaborations.
For further information

 
Orphan Drugs and Rare Diseases
 
Date: 19-20 October 2016
Venue: London, United Kingdom

SMi’s 5th annual Orphan Drugs event will bring together leading industry professionals to discuss the latest regulatory developments, explore how to reduce costs and learn from the latest innovations in the orphan drug landscape.
For further information

 
RareX featuring ICORD 2016
 
Date: 19-22 October 2016
Venue: Cape Town, South Africa

ICORD, Rare Disease International and the Rare Disease Society of South Africa invite you to ICORD 2016 in Cape Town, South Africa. Taking place in the context of Rare Diseases Week 2016, this is the first time that ICORD will be held in Africa. Join us and contribute to a legacy of prevention, treatment and study of rare diseases in Africa and around the world.
For further information

 
International Symposium: Rare skin diseases: from clinic to gene and vice versa
 
Date: 20-21 October 2016
Venue: Madrid, Spain

The symposium is divided into 5 sections and a plenary lecture covering both the state of art in the clinical management of this set of diseases as well as current research and future prospects.
For further information

 
Conference on crossborder healthcare Directive ‘Towards amplified awareness of EU rights to crossborder care’
 
Date: 24 October 2016
Venue: Brussels, Belgium

This conference builds on the discussions that took place at the Informal Meeting of Ministers of Health held in Luxembourg in September 2015, as well as on the findings of the 2015 Commission report on the operation of the crossborder healthcare Directive and the Eurobarometer on Patient Rights published in May 2015.
For further information

 
Cambridge Rare Disease Network (CRDN) 2nd annual International Rare Disease summit
 
Date: 25 October 2016
Venue: Cambridge, England

This event is aimed at key stakeholders from the International rare disease community, also hosting in parallel a "Round Table of Companies" meeting to initiate a rare disease joint funding strategy. Contact CRDN Events Director jo@camraredisease.org

 
27th International Conference on Spina Bifida and Hydrocephalus
 
Date: 28-30 October 2016
Venue: Ghent, Belgium

The ‘Turning Points’ conference will look back on developments in three key areas of activity – Prevention, Health and Care, and Community building. It will also look to the future to determine how we can redouble global efforts to reduce the overall occurrence of both spina bifida and hydrocephalus across all nations; to establish a basic right to care for all individuals born with these conditions, and to build a stronger, more vocal and effective global community of people united by the challenges of spina bifida and hydrocephalus.
For further information

 
The National Hereditary Hemorrhagic Telangiectasia Patient & Family Conference
 
Date: 28-30 October 2016
Venue: Boston, United States of America

The National HHT Patient & Family Conference, which takes place every two years, is an opportunity for Cure HHT to share information with patients and physicians so they can take the initiative to make informed decisions about the treatment and management of HHT.
For further information

 
Genome Editing for Gene and Cell Therapy, a Herrenhausen Symposium
 
Date: 3-4 November 2016
Venue: Hanover, Germany

Through talks, a poster session and a panel discussion, the meeting will help identify the scientific, clinical and regulatory hurdles that remain to be overcome. The exchange of ideas and expertise will also help guide the path forward.
For further information

 
Kennedy's Disease 2016 Conference
 
Date: 9-11 November 2016
Venue: San Diego, United States

KDA family and researchers join in for indepth presentations on what is working and what isn't quite getting it done. This is a no holds barred discussion that is much appreciated by all the patients and families. Researchers from different labarotories across the globe sit down and compare notes and make presentations to one another on what they are doing.
For further information

 
Global Summit on Rare Diseases and Orphan Drugs
 
Date: 15-17 November 2016
Venue: Dubai, United Arab Emirates

The aim of this conference is to bring together bright minds to give talks that are idea‐focused, and on a wide range of subjects, to foster learning, inspiration and wonder – and provoke conversations that matter.
For further information

 
The Prader Willi Syndrome Association UK national conference 2016
 
Date: 19-20 November 2016
Venue: Derbyshire, United Kingdom

The conference programme is split into two different age ranges in PWS:
• Birth to 16 years on Saturday
• 16 years and over on Sunday
The programmes for children and adults with PWS will be appropriate to the age group on each day.
For further information

 
International Primary Immunodefiencies Congress
 
Date: 8-10 November 2017
Venue: Dubai, United Arab Emirates


For further information

 
First International SYNGAP1 Conference
 
Date: 30 November – 1 December 2016
Venue: Texas, United States of America

This conference will utilize a novel multi‐disciplinary approach to bring together patient families, clinicians and researchers as equal stakeholders in order to accelerate research discovery and close the gap to clinical impact.
For further information

 
3rd IRDiRC conference
 
Date: 8-9 February 2017
Venue: Paris, France

All stakeholders – active investigators, policy makers, opinion leaders, critical thinkers, young researchers and patient advocates alike – active in the area of rare diseases from across the globe are invited to join us to celebrate achievements in the field, identify future milestones and goals, and work toward bringing diagnoses and therapies to all rare disease patients.
For further information

 
2017 Rare Disease Day Symposium Alagille Syndrome — New Research, New Hope
 
Date: 24 February 2017
Venue: La Jolla, United States

The 2017 SBP Rare Disease Day Symposium will focus on Alagille Syndrome, with emphasis on the areas of biliary paucity, genetic mechanism, Notch signaling, and biliary development/regeneration. Scientists, clinicians, advocates, patients and their families are invited to join experts in the ALGS field to foster new perspectives, ideas, and collaborations and accelerate efforts toward a cure for this syndrome.
For further information

 
7th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
 
Date: 24-25 February 2017
Venue: Milan, Italy

This meeting will highlight that rare diseases represent an important field of medicine not only for pulmonologists who are skilled in diagnosing and treating particular groups of these illnesses but for all respiratory physicians
For further information

 
Rare and Undiagnosed Diseases: Discovery and Models of Precision Therapy (C2)
 
Date: 5-8 March, 2017
Venue: Massachusetts, United States of America

Through this meeting, participants should become familiar with rare and undiagnosed disease programs, acquire insights into new disease mechanisms, learn about potential therapeutic targets, and establish collaborations that enhance rare disorder expertise and new disease discovery. The meeting will bring together physicians who are expert in rare disorders with scientists who know metabolic pathways and mechanisms, advancing understanding and therapy.
For further information

 
11th European Cytogenetics Conference 2017
 
Date: 1-4 July 2017
Venue: Florence, Italy


For further information

 


Commercial events


 
Orphan Drugs and Rare Diseases
 
Date: 19-20 October, 2016
Venue: London, United Kingdom

The conference will discuss the latest regulatory developments, explore how to reduce costs and learn from the latest innovations in the orphan drug landscape.
For further information

 
Drug Developmental Forum
 
Date: 19-21 September, 2016
Venue: Boston, United States of America

This event will cover the entire drug development process from basic research through clinical trials.
For further information

 


 
OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE ( RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), 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), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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