1 October 2013 print
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Editorial
 
Standardizing bioresources citation in journal articles: workshop highlights
 

Sharing of resources such as biobanks and databases is an essential part of biomedical research as it enhances knowledge production. Due to this there is a rising requirement “to improve access should be complemented with efforts of end-users to recognize and acknowledge these resources”. In order to develop a set of tools that will help efficient sharing, and determining the impact of biobanks and databases an indicator was created and named: Bioresource Research Impact Factor (BRIF). The BRIF work has been divided in subgroups: ‘BRIF identifiers’; ‘BRIF parameters’; ‘BRIF in access and sharing policies’; ‘BRIF dissemination’ and ‘BRIF and journal editors’ so as to expand sharing and circulation of bioresources and their content through the development of specific tools.

An objective of BRIF is to make groups conscious of “specific issues related to bioresources, creating awareness on the BRIF project and, possibly, proceed to amend editorial guidelines by including reference to bioresources is essential”. So far, actions have been directed to: the International Committee of Medical Journal Editors (ICMJE), the Committee on Publication Ethics (COPE) and the European Association of Science Editors (EASE). The ICMJE advised to contact also the EQUATOR network (a repository of reporting guidelines), while COPE agreed to discuss a declaration of openness for promoting specific guidelines. Additionally, EASE Council members agreed on including the subgroup proposed sentence in the updated version of the Guidelines, available at www.ease.org.uk/publications/author-guidelines, to encourage citation of the bioresources with their name or identifier.

A workshop titled “Standardizing Bioresources Citation In Journal Articles: The Editors Point Of View” was held in Istituto Superiore di Sanità, Rome, on 21 June, 2013. The objective of this workshop was to "elaborate practical and realistic proposals for harmonising bioresources citation in journal articles with the help of journal editors". Presentations from the editor of PLOS Biology, COPE, EASE, provided information on creating reliable, comprehensive citation metrics, as well as other methods, to demonstrate the impact of a bioresource. During the workshop the proposal to identify bioresources using a persistent code (ID) rather than the name to avoid confusions, the DOI (Digital Object Identifier) system so that bioresources could be tracked through CrossRef, a properly referenceable bioresource was emphasised. Other suggestions such as create a new MESH (Medical Subject Heading) term for bioresources and the NLM Citing Medicine to include a standard citation for bioresources was also floated.

Finally the opportunity to present some considerations about the BRIF and Journal editors subgroup activity at the “European Commission Public Consultation on Open Research Data” at Brussels on July 2, 2013 was also contemplated.
Learn more about BRIF
Read the open access article on BRIF
 


 
National & International Policy Developments
 
Other European news
 
Rare neuroendocrine tumours in Europe
 

In an article published in European Journal of Cancer, the authors use a large population-based database, RARECARE, to describe the basic indicators of incidence, prevalence and survival of neuroendocrine tumours (NETs), giving a unique overview on the burden of NETs in Europe. NETs at all cancer sites, excluding lung, were analysed in this study. In total over 20,000 incident cases of NETs were analysed by the authors, and a data quality check upon specific NETs was performed. The authors reported an overall incidence rate for NETs as 25/1,000,000 with the highest in patients aged 65 years and older with well differentiated endocrine carcinomas (non-functioning pancreatic and gastrointestinal) (40 per 1,000,000).

The authors estimated that slightly more than 100,000 people were diagnosed with NETs and still alive in EU27 at the beginning of 2008. The authors believe that NETs had a 5 year relative survival of 50%; survival was low for poorly differentiated endocrine carcinoma, and relatively high for well differentiated carcinoma. The authors observe that within NETs, endocrine carcinoma of thyroid gland had the best 5-year relative survival (82%). Because of the complexity and number of the different disciplines involved with NETs (as they arise in many organs), a multidisciplinary approach delivered in highly qualified reference centres and an international network between those centres is recommended by the authors.
Consult the abstract
 
Guidance Documents and Recommendations
 
Position Statement from the Italian College of Fetal Maternal Medicine Noninvasive prenatal testing (NIPT) by maternal plasma DNA sequencing
 
Read the Position Statement
 
Bioinformatics, Registries and Data Management
 
PhenomeNet: a phenotype-based system to identify known candidate genes for diseases now integrates clinical signs from Orphanet
 
PhenomeNet has been described by an article published in Interface Focus as an “approach for integrating phenotypes across species and identifying candidate genes for genetic diseases based on the similarity between a disease and animal model phenotypes”. According to the authors, PhenomeNet differs in their approach by not relying on “guilt by association” but instead evaluates phenotypes in relation to suggested candidate genes which may be used to study molecular mechamisms leading to certain rare diseases.

The authors highlight that in addition to disease phenotypes from the Online Mendelian Inheritance in Man (OMIM) database, the clinical signs from Orphanet has been integrated into PhenomeNet, thus allowing PhenomeNet to resourcefully identify known candidate genes for rare diseases. According to the authors, this study demonstrates that “integration and computational analysis of human disease and animal model phenotypes using PhenomeNet has the potential to reveal novel insights into the pathobiology underlying genetic diseases”.
Consult the PubMed abstract

 
Diseasecard an interactive internet portal for rare genetic diseases
 
An article published in Journal of Biomedical Informatics describes a new, publicly available, internet portal for information on rare diseases named Diseasecard. The authors assert that Diseasecard is a lightweight knowledge base covering rare genetic diseases which is developed with the latest semantic web technologies. The authors believe that Diseasecard has been successful in providing “unified access to a comprehensive network for researchers, clinicians, patients and bioinformatics developers”. It encompasses several heterogeneous resources, providing a gateway to scientific knowledge that is relevant for a given disorder, using common identifiers or querying using full-text search. The authors also contend that Diseasecard’s user-oriented features and direct querying abilities enables everyone to include rare genetic diseases knowledge in new or existing information systems

However, although the querying produced an attractive interactive graph the information on some of the rare diseases queried was lacking considerable. Furthermore, no new information is produced by Diseasecard itself, it is a compilation of works by other databases such as Pubmed, OMIM, Orphanet, PharmaGKB.
Consult the PubMed abstract

 
Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis
 
The diagnosis of neuromuscular diseases is strongly based on the histological characterization of muscle biopsies - a subjective process. A study published in Orphanet Journal or Rare Diseases has tested if quantification of muscle biopsies by obtaining information using network science is possible. This novel method, developed by analysing 102 muscle biopsy images from 70 individuals (controls, patients with neurogenic atrophies, patients with muscular dystrophies) and “characterising (the) muscle tissues by representing each image as a network, with fibers serving as nodes and fiber contacts as links” was called the Neuromuscular Diseases Computerized Image Analysis (NDICIA).

The authors reported that NDICIA was able to quantify the degree of pathology of each sample and was successfully corroborated by comparing “NDICIA quantification of the severity of muscular dystrophies with a pathologist’s evaluation of the degree of pathology”. The authors highlight that using NDICIA quantification of new images is definitely possible which demonstrates the ability of network science to analyse information contained in muscle biopsies which is has been proved to provide a constructive diagnosis of muscular dystrophies and neurogenic atrophies. Thus, the authors believe that this “novel network analysis approach will serve as a valuable tool for assessing the etiology of muscular dystrophies or neurogenic atrophies, and has the potential to quantify treatment outcomes in preclinical and clinical trials”.
Consult the PubMed abstract

 


 
Ethical, Legal & Social Issues
 
Fabry patients provide testimony on the need for timely diagnosis
 
A research paper published in Molecular Genetics and Metabolism explored experiences of Fabry disease (FD) patients’ with the timing of their diagnosis and tried to identify the potentially important patient-oriented themes relevant to discussions about the need for newborn screening (NBS) for this disorder. The study identified themes that reflect both the phenotypic heterogeneity of the disease and the substantial differences between patients’ experiences with and without FD symptoms before diagnosis and among the patients in each group.

The authors included 30 FD patients in a qualitative study involving semi-structured interviews that captured the patients’ experiences. The interview analysis revealed that the impact of a delayed diagnosis on severely affected patients, who often felt misunderstood and were frequently misdiagnosed. However, some patients also mentioned the drawbacks of presymptomatic diagnosis, which was associated with labeling and medicalisation. The authors report that the patients felt that an early FD diagnosis could prevent disease progression through the timely initiation of treatment. According to the authors the results presented add considerable nuances to the discussion about NBS programs for FD and should be incorporated into the debate.
Consult the abstract

 
Positive outlook for pediatric cancers: the case of rhabdomyosarcoma
 
The authors of an article published in Oncogene believe that the next few years to be promising for collaboration between academia and industry for rare and childhood cancers especially for rhabdomyosarcoma (RMS). The authors believe that the "growing understanding of sarcoma tumor biology, synergy with pharmaceutical muscle disease drug-development programs, and emerging publicly available preclinical and clinical tools, makes the outlook for academic–community–industry partnerships in RMS drug development looks promising.

The authors also emphasise that although childhood cancers including RMS are rare when compared with some tumors of adulthood, pediatric cancers generally display common genetic abnormalities that are critical drivers of malignancy. Due to this, the mutations may elicit more consistent and homogeneous tumor biology when compared with adult cancers. Thus, the authors believe that pediatric cancers may be easier to target with emerging non-chemotherapy drugs. The authors underscore the positive outlook for public–private partnerships in RMS drug development, due to whether this is in the context of traditional biomarker-stratified clinical trials or novel designs for personalized cancer therapy. They highlight that not only do certain governmental regulation advantages exist, but these advantages are being made permanent with special incentives for pediatric orphan drug-product development.
Consult the PubMed abstract

 
Nutritional Interventions for the Management of Inborn Errors of Metabolism
 
An article published in Patient Education and Counseling describes the need for research of nutritional interventions on the management of individuals with inborn errors of metabolism (IEM) across their life span. IEM include inherited biochemical disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat, some of which require effective nutritional interventions. To facilitate research in this arena, the trans-National Institutes of Health (NIH) initiative, Nutrition and Dietary Supplement Interventions for Inborn Errors of Metabolism (NDSI-IEM), was launched in 2010 and an NIH-sponsored NDSI-IEM workshop was held in December 2011 to initiate discussions with the IEM community.

This article reports the findings from the NDSI-IEM workshop, input from additional rare disease and metabolic disorders experts, and a review of the literature. The authors provide a description of the research and regulatory infrastructure in the United States that governs the discovery and approval of pharmaceutical drug treatments and nutritional interventions for rare disorders and IEM, the challenges and barriers to conducting research and developing new treatments and interventions and proposed solutions to these challenges, and tools and resources useful for researchers.

The authors believe that the action steps that they provide, if implemented broadly, could transform biomedical research and how federal support for and approval of new nutritional interventions are obtained. The authors emphasise that the lay and professional rare disease communities and federal research, funding, regulatory, and payer agencies will need to collaborate to develop an improved roadmap to overcome current barriers and address the challenges that impede conducting evidence-based research for nutritional interventions for IEM.
Consult the PubMed abstract

 
Study demonstrates willingness of women to pay for Non-invasive prenatal screening for trisomy 21
 
An article published in Patient Education Counseling investigated the attitude of pregnant women regarding non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21) and quantified their willingness to pay for NIPT. The authors administered a questionnaire to 147 pregnant women who received counselling for first-trimester screening (FTS) in two hospitals and nine midwife practices in the Netherlands. The results reveal that 81% stated they would choose to have NIPT, and 57% of women who elected not to undergo FTS in their current pregnancy would perform NIPT if available. The authors also reported that willingness to pay for NIPT was correlated with age and income, but not education level, and the price that participants were willing to pay for NIPT was similar to the current price for FTS. The study concluded that the pregnant women in this study had a positive attitude regarding NIPT for T21, with more than half of the women who rejected prenatal screening opting for NIPT if available. The authors deem that due to the elimination of iatrogenic miscarriage, caregivers should be aware that informed decision-making can change with respect to prenatal screening with the introduction of NIPT.
Consult the PubMed abstract

 
Society supports value based pricing for orphan drugs
 
The UK National Health Service (NHS) has legal and moral obligations to provide fair, comprehensive, needs-based care for all. The National Institute for Health and Clinical Excellence (NICE) makes compulsory recommendations on the use of medicines and other health technologies in the NHS in England and Wales, with reference to their clinical and cost effectiveness. However, several medicines with incremental cost-effectiveness estimates in excess of this threshold range have been approved by NICE for use via the NHS. Justification for this departure from the usual cost-effectiveness threshold range includes the social value judgements of NICE’s Citizen Council. Despite these efforts to incorporate societal views into the NICE work programme, the extent to which this group of 30 lay persons can reflect the views and preferences of the public as a whole regarding the allocation of scarce health resources has been questioned.

A study published in Health Economics explored societal preferences for the prioritisation criteria used by NICE, those proposed under the VBP system, and the UK government’s assumptions used to justify the introduction of the CDF. In addition, to this the authors also explored whether a societal preference exists for treating rare diseases over more common diseases, given that funds are top-sliced for certain treatments of very rare diseases in England and both the All Wales Medicines Strategy Group and the Scottish Medicine Consortium permit additional considerations in the appraisal of medicines for the treatment of such diseases.

The authors concluded from their study that, all else being equal, that severity of disease, diseases for which no other available treatments exist (representing unmet needs) and medicines that reduce reliance on informal carers (representing wider societal benefits) are supported by society as valid NHS resource prioritisation criteria The authors believe that these are vital studies as policies introduced on the basis of perceived—and not actual—societal values may lead to inappropriate resource allocation decisions with the potential for significant population health and economic consequences.
Consult the PubMed abstract

 
Lynch syndrome screening in UK: much remains to be desired
 
A new study published in Frontline Gastroenterol examines colorectal cancer screening in the UK. The authors tried to assess whether these patients are “screened appropriately for Lynch syndrome, in accordance with current international guidance”. The authors identified and reviewed 553 patients newly diagnosed with colorectal cancer over an 18-month period were from the UK National Bowel Cancer Audit Programme. They compared the clinical history of screened patients with unscreened patients and found that, 97 patients(17.5%) fulfilled the revised Bethesda criteria. However only 22 of the 97 patients underwent evaluation of which 14 corroborated a diagnosis of Lynch syndrome. The authors also point that out of these 14 only 9 received a referral for mismatch repair gene testing.

According to the authors, “colorectal teams in the UK do not follow international guidance identifying the patients who should be screened for Lynch syndrome, which has led to patients and their families being excluded from programmes that reduces the incidence and mortality of colorectal cancer. Along with the incorporation of a revised Bethesda assessment, the authors recommend an interdisciplinary approach where teams “work with their local genetics services to develop reliable algorithms for patient screening and referral.
Consult the abstract

 


 
New Syndromes
 



 
Potentially treatable distinct early-onset neurodegenerative brainstem disorder resulting from AMPD2 mutations
 

In this study, the authors describe a potentially treatable distinct early-onset neurodegenerative condition resulting from recessive mutations in the AMPD2 gene. Patients have characteristic brain imaging features of pontocerebellar hypoplasia. AMPD2 deficiency results in defective GTP-dependent initiation of protein translation, which can be rescued by administration of purine precursors.
Consult the Pubmed abstract
 
Cell ; 154(3):505-17 ; August 2013
 
New syndrome featuring primary aldosteronism and neuromuscular abnormalities due to de novo germline CACNA1D mutations in two children
 
The authors have identified de novo germline mutations in CACNA1D, encoding a voltage-gated calcium channel, in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities.
Consult the Pubmed abstract

 
Nat Genet. ; 45(9):1050-4 ; September 2013
 
Severe X-linked phenotype with motor and intellectual disabilities, deafness, dystonia, and white-matter changes caused by loss-of-function mutations in BCAP31
 
In this study, loss-of-function mutations in BCAP31 were identified in seven individuals from three families. These persons suffered from motor and intellectual disabilities, dystonia, sensorineural deafness and white-matter changes, which together define an X-linked syndrome. They also featured a disorganization of the Golgi apparatus.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 93(3):579-86 ; September 2013
 
Novel syndrome associated with intellectual disability, seizures, macrocephaly and obesity due to a recurrent copy number variation implicating GNB3
 
The authors report a syndrome caused by a recurrent chromosomal translocation associated with obesity as well as intellectual disability, seizures, macrocephaly, and eczema. This unbalanced translocation leads to duplication of over 100 genes on chromosome 12, including the obesity candidate gene GNB3.
Consult the Pubmed abstract

 
Proc Natl Acad Sci U S A. ; 110(37):14990-4 ; September 2013
 
Novel autosomal recessive paediatric neurodegenerative disorder identified in four individuals with a mutation in TMPRSS4
 
This article describes four individuals in an Old Order Amish pedigree with an autosomal recessive condition affecting the central nervous system early in life, associated with microcephaly, seizures and psychomotor disabilities. Exome-sequencing combined with homozigosity mapping found a mutation in TMPRSS4 which is associated with this disorder.
Consult the Pubmed abstract

 
Orphanet J Rare Dis. ; 8(1):126. ; August 2013
 
A characteristic appearance, macrocephaly, speech delay and mild intellectual disability segregating with duplication at 4p16.3 in a three generation family
 
The authors described a 3 Mb duplication at 4p16.3 segregating with a characteristic phenotype, macrocephaly, speech delay and mild intellectual disability in a three generation family.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 161(9):2358-62 ; September 2013
 
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
 
A mother and daughter with digital abnormalities who manifest some of the features of Temtamy preaxial brachydactyly hyperphalangism syndrome (TPBS), but appear to have a novel phenotype with an uncertain genetic basis have been described.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 161A(8):2056-9 ; August 2013
 


 
New Genes
 



 
Vitelliform macular dystrophies: IMPG1 mutations can cause both autosomal-dominant and -recessive forms
 
Consult the Pubmed abstract
 
To read more about "Best disease"
To read more about "Adult-onset foveomacular vitelliform dystrophy"

 
Am J Hum Genet. ; 93(3):571-8 ; September 2013
 
An X-linked form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in transcriptional coregulator HCFC1
 
Consult the Pubmed abstract
 
To read more about "Methylmalonic acidemia with homocystinuria"

 
Am J Hum Genet. ; 93(3):506-14 ; September 2013
 
Epilepsy-aphasia spectrum disorders caused by GRIN2A mutations
 
Consult Pubmed abstracts
 
To read more about "Landau-Kleffner syndrome"
To read more about "Continuous spike-wave during slow sleep syndrome"
To read more about "Rolandic epilepsy - speech dyspraxia"
To read more about "Benign familial epilepsy of childhood with rolandic spikes"

 
Nat Genet. ; 45(9):1061-6; 1067-72; 1073-6 ; September 2013
 
Bilateral striopallidodentate calcinosis identified in six families with nonsense and missense mutations in the gene encoding PDGF-B
 
Consult the Pubmed abstract
 
To read more about "Bilateral striopallidodentate calcinosis"

 
Nat Genet. ; 45(9):1077-82 ; September 2013
 
Autosomal dominant form of congenital abnormalities of the kidney or urinary tract associated with mutations in DSTYK
 
Consult the Pubmed abstract
 
To read more about "Renal dysplasia"
To read more about "Familial vesicoureteral reflux"

 
N Engl J Med. ; 369(7):621-9 ; August 2013
 
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18
 
Consult the Pubmed abstract
 
Hum Mutat. ; 34(9):1195-9 ; September 2013
 
Early-onset Parkinsonism due to a homozygous mutation in SYNJ1
 
Consult Pubmed abstracts
 
To read more about "Young adult-onset Parkinsonism"

 
Hum Mutat. ; 34(9):1200-7; 34(9):1208-15 ; September 2013
 
Congenital heart defects associated with haploinsufficiency of FOXP1
 
Consult the Pubmed abstract
 
Hum Mutat. ; 34(9):1226-30 ; September 2013
 
MELAS syndrome and maternally-inherited progressive external ophthalmoplegia: mutations identified in MT-TW, and MT-TN, MT-TS1 and MT-TL2 respectively
 
Consult the Pubmed abstract
 
To read more about "MELAS syndrome"
To read more about "Maternally-inherited progressive external ophthalmoplegia"

 
Hum Mutat. ; 34(9):1260-8 ; September 2013
 
Arthrogryposis-like syndrome: identification of a homozygous deletion in FKBP10 in multiple pedigrees
 
Consult the Pubmed abstract
 
To read more about "Arthrogryposis-like syndrome"

 
Hum Mutat. ; 34(9):1279-88 ; September 2013
 
Epileptic encephalopathies associated with ALG13 and GABRB3 de novo mutations
 
Consult the Pubmed abstract
 
To read more about "Lennox-Gastaut syndrome"
To read more about "Early infantile epileptic encephalopathy"

 
Nature ; 501(7466):217-21 ; September 2013
 
Berardinelli–Seip congenital lipodystrophy: diminished c-fos expression might play a role by interfering with adipocyte development
 
Consult the Pubmed abstract
 
To read more about "Berardinelli-Seip congenital lipodystrophy"

 
Orphanet J Rare Dis. ; 7;8:119 ; August 2013
 
Mullerian aplasia: complex genetic aetiology with copy number variations or variations in the new gene TBX6 or in the gene LHX1
 
Consult the Pubmed abstract
 
To read more about "Classic Mayer-Rokitansky-Küster-Hauser syndrome"
To read more about "MURCS association"

 
Orphanet J Rare Dis. ; 8(1):125 ; August 2013
 
X-linked recessive metacarpal 4/5 fusion: whole exome sequencing identifies FGF16 nonsense mutations in two unrelated cases
 
Consult the Pubmed abstract
 
To read more about "Syndactyly type 8"

 
J Med Genet. ; 50(9):579-84 ; September 2013
 
Hartsfield-Bixler-DeMyer syndrome: dominant or recessive FGFR1 mutations are responsible
 
Consult the Pubmed abstract
 
To read more about "Hartsfield-Bixler-Demyer syndrome"

 
J Med Genet. ; 50(9):585-92 ; September 2013
 
Autosomal dominant microcephaly with intellectual disability is associated with loss-of-function variation in the DPP6 gene
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant microcephaly"

 
Eur J Med Genet. ; 56(9) :484-489 ; September 2013
 
Systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation is caused by a homozygous missense mutation in PRKCD in three siblings
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive systemic lupus erythematosus"

 
Hum Mutat. ; 34(9):1279-88 ; September 2013
 


 
Research in Action
 



 
Clinical Research
 
Pulmonary arterial hypertension: macitentan, a new dual endothelin-receptor antagonist, significantly reduced morbidity and mortality in a long-term trial
 
Consult the Pubmed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"
To read more about "Pulmonary arterial hypertension associated with connective tissue disease"
To read more about "Pulmonary arterial hypertension associated with congenital heart disease"
To read more about "Pulmonary arterial hypertension associated with HIV infection"
To read more about "Drug- or toxin-induced pulmonary arterial hypertension"

 
N Engl J Med. ; 369(9):809-18 ; August 2013
 
Giant cell tumour of bone: denosumab, associated with tumour responses and reduced need for morbid surgery in a phase 2 trial, appears as a new treatment option
 
Consult the Pubmed abstract
 
Lancet Oncol. ; 14(9):901-8 ; August 2013
 
Advanced-stage Hodgkin lymphoma: six cycles of BEACOPPescalated significantly improve overall survival compared with ABVD and other regimens
 
Consult the Pubmed abstract
 
To read more about "Hodgkin lymphoma"

 
Lancet Oncol. ; 14(10):943-52 ; September 2013
 
Advanced epithelial ovarian, fallopian tube, and primary peritoneal cancer: JGOG 3016 treatment offers better survival than conventional treatment
 
Consult the Pubmed abstract
 
To read more about "Malignant tumor of fallopian tube"
To read more about "Primary peritoneal carcinoma"
To read more about "Ovarian adenocarcinoma"

 
Lancet Oncol. ; 14(10):1020-1026 ; September 2013
 
Systemic-onset juvenile idiopathic arthritis: sustained improvements achieved in more than 50% of rilonacept-treated patients over two years
 
Consult the Pubmed abstract
 
To read more about "Systemic-onset juvenile idiopathic arthritis"

 
Arthritis Rheum. ; 65(9):2486-96 ; September 2013
 
Digital ulcers in systemic sclerosis: potential role of PDE-5 inhibitors in the healing, and of bosentan and IV iloprost in the prevention
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Arthritis Care Res (Hoboken). ; 65(9):1460-71 ; September 2013
 
Hereditary angioedema: ecallantide appears effective for attacks in adolescents, with rapid symptoms improvement
 
Consult the Pubmed abstract
 
To read more about "Hereditary angioedema"

 
Pediatrics ; 132(2):e490-7 ; August 2013
 
Familial adenomatous polyposis: ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps
 
Consult the Pubmed abstract
 
To read more about "Familial adenomatous polyposis"

 
Orphanet J Rare Dis. ; 8:118 ; August 2013
 
Hutchinson-Gilford progeria syndrome: preliminary evidence that lonafarnib therapy may improve neurologic status of children
 
Consult the Pubmed abstract
 
To read more about "Hutchinson-Gilford progeria syndrome"

 
Neurology ; 81(5):427-30 ; July 2013
 
Niemann-Pick disease type C: efficacy of N-acetylcysteine in phenotypic suppression of mouse models, but moderate improvement in humans
 
Consult the Pubmed abstract
 
To read more about "Niemann-Pick disease type C"

 
Hum Mol Genet. ; 22(17):3508-23 ; September 2013
 
Fabry disease: enzyme replacement therapy is less effective in patients who have already developed fibrosis
 
Consult the Pubmed abstract
 
To read more about "Fabry disease"

 
Orphanet J Rare Dis. ; 8:116 ; August 2013
 
Posterior urethral valve: fetal urinary peptides to predict postnatal outcome of renal disease
 
Consult the Pubmed abstract
 
To read more about "Posterior urethral valve"

 
Sci Transl Med. ; 5(198):198ra106 ; August 2013
 
Stem Cells
 

 
A new immuno-, dystrophin-deficient model, the NSG-mdx4Cv mouse, provides evidence for functional improvement following allogeneic satellite cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Stem Cells ; 31(8):1611-20 ; August 2013
 
Krabbe disease: multipotent stromal cells alleviate inflammation, neuropathology, and symptoms in the Twitcher mouse
 
Consult the Pubmed abstract
 
To read more about "Krabbe disease"

 
Stem Cells ; 31(8):1523-34 ; August 2013
 
Gene Therapy
 
Glycogen storage disease due to acid maltase deficiency: intrapleural administration of AAV9 improves neural and cardiorespiratory function in model mice
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Mol Ther. ; 21(9):1661-7 ; September 2013
 
Duchenne muscular dystrophy: reading frame correction by targeted genome editing restores dystrophin expression in cells from patients
 
Consult the Pubmed abstract
 
Mol Ther. ; 21(9):1718-26 ; September 2013
 
Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs as potential therapy for some mitochondrial diseases
 
Consult the Pubmed abstract
 
Nat Med. ; 19(9):1111-3 ; September 2013
 
Therapeutic Approaches
 

 
Vitamin B12-unresponsive methylmalonic acidemia type mut-/0: antioxidants targeting proximal tubule mitochondrial dysfunction can attenuate the renal disease
 
Consult the Pubmed abstract
 
To read more about "Vitamin B12-unresponsive methylmalonic acidemia type mut-"
To read more about "Vitamin B12-unresponsive methylmalonic acidemia type mut0"

 
Proc Natl Acad Sci U S A. ; 110(33):13552-7 ; August 2013
 
Cystic fibrosis: discovery of two novel potent ΔF508‐CFTR correctors that target the nucleotide binding domain
 
Consult the Pubmed abstract
 
To read more about "Cystic fibrosis"

 
EMBO Mol Med. ; [Epub ahead of print] ; August 2013
 
Achondroplasia: postnatal soluble FGFR3 therapy rescues symptoms and restores bone growth in model mice
 
Consult the Pubmed abstract
 
To read more about "Achondroplasia"

 
Sci Transl Med. ; 5(203):203ra124 ; September 2013
 
Mild peroxisome biogenesis disorder: arginine improves peroxisome functioning in cells from patients
 
Consult the Pubmed abstract
 
To read more about "Peroxisome biogenesis disorder-Zellweger syndrome spectrum"
To read more about "Neonatal adrenoleukodystrophy"
To read more about "Infantile Refsum disease"

 
Orphanet J Rare Dis. ; 8(1):138 ; September 2013
 
Huntington disease: a dietary copper intervention modifies phenotypes in a Drosophila HD model
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
Proc Natl Acad Sci U S A. ; 110(37):14995-5000 ; September 2013
 
Ebola hemorrhagic fever: successful therapeutic intervention with the MB-003 monoclonal antibody cocktail in nonhuman primates
 
Consult the Pubmed abstract
 
To read more about "Ebola hemorrhagic fever"

 
Sci Transl Med. ; 5(199):199ra113 ; August 2013
 
Prion diseases: given before symptom onset, a PDK1 inhibitor extends survival and reduces motor impairment in prion-infected mice
 
Consult the Pubmed abstract
 
To read more about "Transmissible spongiform encephalopathy"
To read more about "Inherited prion disease"
To read more about "Creutzfeldt-Jakob disease"

 
Nat Med. ; 19(9):1124-31 ; September 2013
 
Pulmonary hypertension: blocking macrophage leukotriene B4 prevents endothelial injury and reverses the disease in model rats
 
Consult the Pubmed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"
To read more about "Pulmonary arterial hypertension associated with connective tissue disease"
To read more about "Rare pulmonary hypertension"

 
Sci Transl Med. ; 5(200):200ra117 ; August 2013
 
Diagnostic Approaches
 

 
Immunochemistry with FGF10, FGFR2b, or SHH could be useful in differentiating congenital cystic adenomatoid malformation from type I pleuropulmonary blastoma
 
Consult the Pubmed abstract
 
To read more about "Congenital pulmonary airway malformation, type 1"
To read more about "Pleuro-pulmonary blastoma type I"

 
Orphanet J Rare Dis. ; 8(1):130 ; September 2013
 
Clinical neurofibromatosis type I consensus criteria cannot be used to exclude the diagnosis of spinal neurofibromatosis type I, especially in childhood
 
Consult the Pubmed abstract
 
To read more about "Neurofibromatosis type 1"

 
J Med Genet. ; 50(9):606-13 ; September 2013
 


 
Patient Management and Therapy
 
Review article on primary hyperoxaluria
 
Consult the Pubmed abstract
 
To read more about "Primary hyperoxaluria"
To read more about "Primary hyperoxaluria type 1"
To read more about "Primary hyperoxaluria type 2"
To read more about "Primary hyperoxaluria type 3"

 
N Engl J Med. ; 369(7):649-58 ; August 2013
 
An overview of gastrointestinal stromal tumor
 
Consult Pubmed abstracts
 
To read more about "Gastrointestinal stromal tumor"
To read more about "Carney triad"
To read more about "Carney-Stratakis syndrome"
To read more about "Neurofibromatosis type 1"

 
Lancet ; 382(9896):973-83 ; September 2013
J Med Genet. ; 50(10):653-61 ; October 2013
 
Monogenic diseases than can be cured by liver transplantation
 
Consult the Pubmed abstract
 
J Hepatol. ; 59(3):595-612 ; September 2013
 
Erdheim-Chester disease: a review on clinical, radiological and pathological manifestations, differential diagnoses, and various treatment options
 
Consult the Pubmed abstract
 
To read more about "Erdheim-Chester disease"

 
Orphanet J Rare Dis. ; 8(1):137 ; September 2013
 
Primary thyroid lymphoma: a clinical review
 
Consult the Pubmed abstract
 
To read more about "Thyroid lymphoma"

 
J Clin Endocrinol Metab. ; 98(8):3131-8 ; August 2013
 
Update on multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma
 
Consult the Pubmed abstract
 
To read more about "Multiple endocrine neoplasia type 2"
To read more about "Multiple endocrine neoplasia type 2A"
To read more about "Multiple endocrine neoplasia type 2B"
To read more about "Familial medullary thyroid carcinoma"

 
J Clin Endocrinol Metab. ; 98(8):3149-64 ; August 2013
 
Current options for the treatment of cryopyrin-associated periodic syndromes
 
Consult the abstract
 
To read more about "Cryopyrin-associated periodic syndrome"
To read more about "CINCA syndrome"
To read more about "Familial cold urticaria"
To read more about "Muckle-Wells syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 8 , Pages 589-597 ; August 2013
 
Treatments of cervical dystonia: non-pharmacological interventions, oral medications and injections of botulinum toxin, intrathecal baclofen and deep brain stimulation therapy
 
Consult the abstract
 
To read more about "Cervical dystonia"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 8 , Pages 599-606 ; August 2013
 
Fibrodysplasia ossificans progressive: opportunities and challenges for the development of effective therapeutics
 
Consult the abstract
 
To read more about "Fibrodysplasia ossificans progressiva"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 8 , Pages 637-649 ; August 2013
 
Autoimmune rheumatic diseases: clinical aspects, challenges to treatment, and immunopathogenic mechanisms
 
Consult Pubmed abstracts
 
Lancet ; 382(9894):797-808; 809-18; 819-31 ; August 2013
 
Importance of therapeutic patient education in ichthyosis: positive results of a prospective single reference center study
 
Consult the Pubmed abstract
 
Orphanet J Rare Dis. ; 8(1):113 ; August 2013
 


 
Orphan Drugs
 
Regulatory News
 
Commission complies with the decision of the European General Court finally granting a marketing authorisation for Orphacol
 
The European Commission has finally granted a marketing authorisation for Orphacol® (cholic acid), an orphan medicinal product for the treatment of two extremely rare and life-threatenting liver conditions after a long dispute. Although Orphacol was approved for marketing authorisation more than 2 and half years ago after receiving positive opinions from EMA, the Commission refused to grant the marketing authorisation for unfounded legal reasons. However on 4 July 2013, in a landmark decision by the European General Court, the Commission’s decision on not granting marketing authorisation to Orphacol was struck down. The Commission has now complied with the ruling and granted the marketing authorisation.

The rare disease community receives this decision with much relief. Less than 100 patients are estimated to suffer from these conditions in Europe, and treatment with cholic acid has allowed around 20 patients to live completely normally for more than 10 years. Delay in treatment of these conditions results in extensive and irremediable liver damage at a very young age; ultimately, untreated patients would at best have to undergo a liver transplant or, at worst, would not survive. Extensive clinical experience has shown that patients with these diseases live normally when treated with Orphacol®, which has led the European Medicines Agency to classify Orphacol as a medicine of notable public health benefit in its 2010 annual report.
Learn more about Orphacol

 
Study urges companies to attempt the risk-based approach to ATMP development
 
Advanced therapy medicinal products (ATMPs) are the cutting edge of drug innovation. ATMPs have different challenges than other drug classes. To accommodate these challenges and facilitate science driven development, flexibility in the requirements to demonstrate the safety and efficacy of this rapidly evolving drug class is necessary. To create flexibility, the European Union introduced the risk based approach. This approach provides the possibility of omitting guideline-based studies based on risk analyses. An article published in Regulatory Toxicology and Pharmacology offers insight into the effect of the risk-based approach on the non-clinical development of ATMPs.

Here the authors addressed if companies use a risk based approach for the non-clinical development of ATMPs and if the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) accept non clinical development programs based on the risk-based approach by analysing scientific advice letters formulated by the CHMP. The risk-based approach was used to justify deviations from the guidelines in the majority (75%) of the cases. The CHMP accepted 40% of the proposals to omit studies and stated that additional data was necessary to make an informed decision for 35% of the proposals. The authors believe that this indicates that the risk-based approach facilitates the science-driven development of ATMPs.
Consult the PubMed abstract

 
9 positive opinions recommending orphan designation at the September 2013 COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted nine positive opinions issued at the August 2013 COMP meeting for the treatment of:
- congenital factor VII deficiency
- plasma cell myeloma
- sarcoidosis
- myotonic disorders
- Allan-Herndon-Dudley syndrome
- cystic fibrosis
- Duchenne muscular dystrophy
- Wiskott-Aldrich syndrome
- complex regional pain syndrome
 


 
Grants
 


 
SMA Europe announces its 6th international Call for SMA Research Projects
 
This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The overall goal of SMA Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments. For more information please visit the SMA Europe web site
 
The French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY SOON!
 
The French Foundation for rare diseases (Fondation maladies rares) and The World Academy of Sciences (TWAS) are opening a joint programme to support collaborative initiatives on rare diseases research.
Under the first phase of this programme, researchers from the Mediterranean area (North Africa and the wider Middle Eastern region) are encouraged to initiate and/or strengthen cross-national research collaborations in the field of rare diseases.
This call is open to collaborative initiatives (conference, workshop, training course) concerning any rare diseases, except cancers. Co-organization of collaborative events with French research teams is encouraged.

Eligible countries:
Afghanistan, Algeria, Bahrain, Egypt, Iran, Iraq, Jordan, Kuwait, Lebanon, Libya, Morocco, Oman, Palestine, Pakistan, Qatar, Saudi Arabia, Syria, Tunisia, Turkey, United Arab Emirates, Yemen

Proposals should be submitted by email to: mahdavi@twas.org
Deadline: 12 November 2013.
Full details of the call are available online:
French Foundation for rare diseases
TWAS
Contact points:
TWAS: Maria Teresa Mahdavi mahdavi@twas.org
French Foundation for rare diseases: Estelle Chanudet-van den Brink estelle.chanudet@fondation-maladiesrares.com

 


 
Courses & Educational Initiatives
 
Orphan-product-designation and -grant workshop
 
Date: 4 October 2013
Venue: Maryland, USA

Registration is open for the orphan-product-designation and -grant workshop. Organised by the United States Food and Drug Administration (FDA), the aim of the workshop is to provide information on the European Medicines Agency (EMA) and FDA programmes for orphan-medicinal-product designation, as well as on the FDA programmes for orphan-product grants and humanitarian-use device designation to pharmaceutical, biotechnology and device companies, as well as to academics.
For further information

 
Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation
 
Date: 17-18 October 2013
Venue: Marseille, France

This event, jointly organised by Eudipharm, F-Crin and OrphanDev, will aim to address issues that to help fill the current discrepancies in translational research for rare diseases and creating awareness of clinical research sectors. For further details

 
2nd International Workshop Rare disease and Orphan Drug Registries
 
Date: 21-22 October 2013
Venue: Rome, Italy

Further Information about this course can be found on the epirare website For further details

 
1st Asia Pacific Inborn Errors of Metabolism course
 
Date: 09-11 January 2014
Venue: Tokyo, Japan

The 1st Asia Pacific Inborn Errors of Metabolism course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems For more information and to register (before November 20th), please visit www.orphan-europe-academy.com

 
European Cytogeneticists Association Courses
 
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics 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. Information for the 2014 course is now available. For Further details
 


 
What's on Where?
 

 
Mitochondrial Disease: Translating biology into new treatments
 
Date: 2-4 October 2013
Venue: Cambridge, UK

This is a brand new conference that will discuss mitochondrial medicine. During this interactive conference several experts will speak about translational mitochondrial medicine. Abstracts are due by 16 July 2013 and the registration deadline is on 20 August 2013.
For further details

 
US Conference on Rare Diseases & Orphan Products: The New Era in Healthcare
 
Date: 7-9 October 2013
Venue: Maryland, United States of America

This annual meeting will be attended by stakeholders in the rare disease community - patients, patient organizations, researchers, drug and device companies, investors, thought leaders and government.
For further details

 
The 10th Balkan Congress of Human Genetics and 2nd Alps Adria Meeting on Human Genetics (AABC2013)
 
Date: 10-12 October 2013
Venue: Bled, Slovenia

This congress will deal with several issues pertaining rare genetic disorders, with sessions focusing exclusively on rare human disease.
For further details

 
Orphan Drugs and Rare Diseases
 
Date: 14-15 October 2013
Venue: London, UK

This commercial orphan drugs conference focuses on the current rare diseases drug development landscape where world leading expert speaking faculty will highlight cutting edge research via case studies taking place in previously untreatable patients with highly rare diseases, current regulatory policies involving the FDA & EMA, new drug discoveries and partnerships in clinical trials and drug development with patient groups.
For further details

 
Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
 
Date: 17-18 October 2013
Venue: Marseille; France

This event, jointly organised by Eudipharm, F-Crin and OrphanDev, will aim to address issues that to help fill the current discrepancies in translational research for rare diseases and creating awareness of clinical research sectors.
For further details

 
2013 PVNH Support & Awareness Conference
 
Date: 17-19 October 2013
Venue: Boston, USA

Periventricular Nodular Heterotopia (PVNH) Conference will bring together PVNH patients, both young and older, PVNH specialists in genetics, neurology, cardiology among other disciplines and other PVNH stakeholders.
For further details

 
3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
 
Date: 17-19 October 2013
Venue: Maastricht, The Netherlands

This conference aims to gather renowned researchers and clinicians working in the area of Rett Syndrome, to encourage interdisciplinary international cooperation. The conference also aims to provide stakeholders with the latest information on treatment of symptoms as well as preventative manangement.
For further details

 
Thalassemia International Federation World Congress
 
Date: 19-23 October 2013
Venue: Abu Dhabi, United Arab Emirates

Topics for this conference includes “all aspects of prevention, management and care of thalassemia and sickle cell disease and a one-day patient programme”.
For further details

 
World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
 
Date: 24-27 October 2013
Venue: Monaco, Principauté de Monaco

This international conference will cover a wide range of topics including cord blood transplant in adults and children, the role of HLA in cord blood transplant, stem cells, cord blood banking and regulatory issues. The scientific programme comprises of an international panel of distinguished scientitists and clinicians with a special session on sickle cell disease. This conference is open to all professionals working in fields related to cord blood biology and clinical applications from both public and private sectors, including physicians, research scientists, technicians, data analysts, nurses as well as healthcare policy makers.
For further details

 
EUROPLAN National Conferences Hungary
 
Date: 25-26 October 2013
Venue: Budapest, Hungary

Organised by HUFERDIS; Hungarian Federation of People with Rare and Congenital Diseases
For further details go to www.rirosz.hu

 
The 8th ICORD Meeting
 
Date: 1-2 November 2013
Venue: St Petersburg, Russia

The annual ICORD conference gathers representatives of government, academia, patients organisations. An opportunity for collaboration for patients, researchers, seekers of new projects and products and advocates for those affected by rare diseases.
For further details

 
First International Primary Immunodeficiencies Congress (IPIC)
 
Date: 7-8 November 2013
Venue: Estoril, Portugal
The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
For further details

 
World Orphan Drug Congress 2013
 
Date: 14 November 2013
Venue: Geneva, Switzerland

This commercial conference and exhibition bringing together buyers, sellers and key influencers from across the orphan and rare disease industry. Having welcomed over 1000 orphan and rare disease stakeholders in only its 3 year history, the event in Europe’s logical choice for Biotech and Pharma orphan drug players who want to meet Rare Disease Networks, Patient Groups, COMP Members, HTA Experts, Regulators and Payers.
For Further Information

 
EUROPLAN National Conferences Lithuania
 
Date: 14 November 2013
Venue: Vilnius, Lithuania

Organised by Ministry of Health

 
EUROPLAN National Conferences The Netherlands
 
Date: 14-15 November 2013
Venue: The Netherlands

Organised by VSOP; the Dutch Genetic Alliance
For further details go to http://www.vsop.nl

 
5th European Symposium on Rare Anaemias
 
Date: 15-16 November 2013
Venue: Ferrara, Italy

The 5th European Symposium on Rare Anaemias is an activity within ENERCA project to disseminate and up-to-date knowledge on rare anaemias and, at the same time, increases their awareness. An integrated in the framework of the 5th European Symposium on Rare Anaemias, the three organizers (ENERCA, UNITED and TIF) have collaborated in setting up the 1st Italian Thalassaemia meeting for patients and health professionals in Ferrara.
For further details

 
EUROPLAN National Conferences Italy
 
Date: 15-16 November 2013
Venue: Rome, Italy

Organised by Federazione italiana malattie rare (UNIAMO)
www.uniamo.org

 
Explaining the Price of Orphan Drugs
 
Date: 14-15 November 2013
Venue: Geneva, Switzerland

This commercial event will bring together orphan drug developers, European payers and HTA experts to shape industry understanding on orphan drug pricing and create stakeholder alignment when discussing the value of an orphan drug. br>For Further Information

 
EUROPLAN National Conferences Luxembourg
 
Date: 19-20 November 2013
Venue: Luxembourg

Organised by Luxembourg Alliance for Rare Diseases and Neuro Muscular Diseases (ALAN)
For further details go to www.alan.lu/alan

 
EUROPLAN National Conferences Serbia
 
Date: 5-6 December 2013
Venue: Belgrade, Serbia

Organised by NORBS; Serbian National Organization for Rare Diseases
For further details go to www.norbs.rs>

 
EUROPLAN National Conferences France
 
Date: 13 January 2014
Venue: Paris, France

Organised by Alliance Maladies Rares
For further details go to www.alliance-maladies-rares.org

 
EUROPLAN National Conferences Spain
 
Date: 24 January 2014
Venue: Burgos, Spain

Organised by FEDER; the Spanish Alliance for Rare Diseases
For further details go to www.enfermedades-raras.org

 
EUROPLAN National Conferences Ireland
 
Date: February 2014
Venue: Dublin, Ireland

Organised by GRDO, Genetic and Rare Disorders Organisation
For further details go to www.grdo.ie

 
EUROPLAN National Conferences Belgium
 
Date: 28 February 2014
Venue: Brussels, Belgium

Organised by Belgian National Alliance for Rare Diseases
For further details go to radiorg.be

 
14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
 
Date: 22-25 October 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease

 
19th Congress of the European Association of Hospital Pharmacists
 
Date: 26-28 March 2014
Venue: Barcelona, Spain


For further details

 
2014 Lymphangioleiomyomatosis International Research Conference
 
Date: 28-30 March 2014
Venue: Chicago, USA

The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
For further details

 
The 9th International Congress on Autoimmunity
 
Date: 26-30 March 2014
Venue: Nice, France

This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
For further details

 
Rare diseases and risk of social exclusion
 
Date: 7 October 2013
Place: Warsaw, Poland

This event is Organised by Human rights defender in Poland. For further details

 
7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
 
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines from Europe. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

 


 
Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews International is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

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