20 June 2013 print
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Report on the First International Rare Disease Research Consortium conference and IRDiRC policy guidelines are now online

The International Rare Disease Research Consortium (IRDiRC) has posted its conference report which was held on 16-17 April 2013 in the city of Dublin, Ireland. They have also posted the IRDiRC policies and guidelines document which highlights the guidelines provided by the scientific committee members, to the IRDiRC members which includes researchers, patients and their representatives as well as funding bodies.

The IRDiRC conference attracted rare disease stakeholders with a common theme in mind: collaboration for furthering the cause of rare disease research. The goal of IRDiRC is to facilitate in providing 200 therapies for rare diseases by 2020 as well as means to diagnose all of them as delineated in the IRDiRC policies and guidelines document. The first IRDiRC conference has been the stepping stone towards achieving this goal and the conference report underscores this.

The conference report provides a detailed summary of the plenary session, which included presentations from Dr. Ruxandra Draghia from the European Commission, Dr. Christopher Austin from the National Institute of Health, Dr. Sharon Terry: chief executive of Genetic Alliance and Dr. Hans Schikan from the Dutch Biopharmaceutical company Prosensa. This diverse and international set of presenters set the stage for a stimulating and information packed event.
The range of topics covered during the conference, was divided into three tracks: the therapies, diagnostics and interdisciplinary. This report provides an informative synopsis of presentations in each track and also accentuates the importance of these presentations in tying into the goals of IRDiRC. An outline of the closing plenary session, a captivating epilogue of this conference, with equally diverse opinions from a variety of thought leaders, including Dr. Paul Lasko, the current chair of IRDiRC, is also presented in the report. Conclusions from each track and recommendations on how the information presented can lead into fulfilling the goals of IRDiRC, augments the value of this document.You can also find the poster abstracts and presentations from the conference on the website.
The conference brought together many researchers and the success of the conference can be discerned by the fact that several initiatives to aid rare disease research are underway, since the conference.More details can be found on the website or by contacting IRDiRC.
Read the report on the IRDiRC website
Photo courtesy: Lensman Photographic Agency

EUCERD update

8th Meeting of the EUCERD marks end of a fruitful mandate with adoption of two sets of recommendations
The European Union Committee of Experts on Rare Diseases (EUCERD) held its 8th meeting on 5-6 June 2013, marking the end of its three-year mandate. This last meeting was proof of the effectiveness of the Committee in successfully bringing together representatives of the European Commission, Member States, patient organisations, Industry and experts in the field of public health and research, as it saw the adoption of two sets of recommendations, on patient registration and data collection and indicators for national plans and strategies respectively.

During the meeting of the EUCERD a number of key topics were presented and discussed, including steps towards the establishment of a European platform for rare diseases registries, the role and content of a possible European Research Infrastructure Consortium on rare diseases information for research, the EUCERD opinion on newborn screening, and next steps towards the development of a EUCERD recommendation on genetic testing for rare diseases. Members were also informed of the outcomes of the working group on mechanisms of coordinated access to orphan medicinal products, the advancement of the elaboration and implementation of national plans/strategies for rare diseases due by the end of the year, the work of the EUCERD Joint Action in 2013, as well as plans for the European Conference on Rare Diseases and Orphan Products to be held on 8-10 May 2014 in Berlin.

The meeting also saw the unanimous adoption of the EUCERD’s Core Recommendations on Rare Disease Patient Registration and Data Collection. Rare disease registries are valuable instruments for increasing knowledge on rare diseases, and for supporting fundamental, clinical and epidemiological research, as well as for post-marketing surveillance of orphan medicinal products and medicines used off-label. This data is also crucial for the planning of healthcare services. The recommendation calls for the international operability of registries and databases and use of appropriate coding systems to enable the necessary pooling of data for public health and research purposes, gives advice concerning the establishment of registries and collection of data, highlights the various uses of patient data and how to best share this information, underlines the importance of adherence to good practice guidelines in the field, stresses the need for registries to be adaptable to meet future needs, and emphasises the importance of sustainability for the timespan of the registry’s utility.

The second set of recommendations to be adopted was the EUCERD’s Recommendation on Core Indicators for National Plans/Strategies for Rare Diseases . This recommendation provides a list of 21 indicators which are intended to capture relevant data and information on the process of planning and implementing of these plans and strategies on a regular basis. These indicators would provide information notably to the European Commission on the implementation of the Council Recommendation on an Action in the field of Rare Diseases (June 2009) which encourages Member States to establish a national plan or strategy in the field by the end of 2013. They will also serve as a basis for the elaboration of indicators at national level tailored to the specific actions foreseen in the plans/strategies. This set of recommendations will be revised in the future to take into account the experiences of the Member States.

To mark the end of this mandate, the Director of Public Health at the EC’s Directorate-General for Health and Consumers, Mr. John Ryan, joined the meeting to thank the Members of the Committee, and the Chair, Dr. Ségolène Aymé, for their work. He highlighted the important advisory role the EUCERD had played during their term and gave assurance that the next committee, to be established within the coming months, will continue to play a key supporting role in European rare disease policy in the future.

Estabished in 2009, the EUCERD held its first meeting in December 2010, and has succeeded in fulfilling its mission of assisting the European Commission in the field of rare diseases by elaborating and adopting five sets of recommendations on a variety of topics : in addition to the aforementioned recommendations adopted during the 8th Meeting, the EUCERD has issued recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States, Improving Informed Decisions Based on the Clinical Added Value of Orphan Medicinal Products (CAVOMP) Information Flow, and European Reference Networks for Rare Diseases (For further details). In addition, the Committee has helped elaborate, in collaboration with national stakeholders, the annual Report on the State of the Art of Rare Disease Activities in Europe which provides an indispensable overview of activities at European and Member State level: the new edition will be published this summer. Members have also contributed to the discussions and conclusions of a number of expert workshops organised by the EUCERD Scientific Secretariat, a number of which within the framework of the EUCERD Joint Action.

All the reports and recommendations elaborated by the EUCERD during the past three years are also available on the EUCERD website (www.eucerd.eu). The summary report of the 8th Meeting of the EUCERD will be available on the site shortly.


Spotlight on...
European Workshop on Genetic Testing Offer in Europe

The European Commission's Joint Research Centre (JRC) published a scientific and policy report: "Genetic Testing Offer in Europe", enumerating the highlights of an experts' meeting, held at the JRC-Ispra on 19-20 November, 2012.
Organised by the JRC in collaboration with the European Union Committee of Experts on Rare Diseases (EUCERD) and EuroGentest, experts and stakeholders in the field of genetic testing, including representatives from the European Commission (JRC, Directorates-General for Research & Innovation and Health and Consumers) deliberated on the quality of genetic testing that is currently available and also how genetic testing in Europe can be efficiently organised in the future. This report is of especial significance for the rare disease community as the workshop focused on subjects such as access to genetic resources across Europe and maintaining high standards of the genetic laboratories. The report also elucidated the expert recommendation on issues that have cropped up recently due to advancements in the field of genetics, such as the usage of massively parallel sequencing and direct-to-consumer genetic testing.
Read the Report


EU Policy News
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
An open access article published in the European Journal of Human Genetics reports on “the tender on newborn screening (NBS) to report on current practices of laboratory testing, (to) form a network of experts and provide guidance on how to further implement NBS screening in a responsible way, the latter of which was provided in an Expert Opinion document”. The EU committee of experts on rare diseases (EUCERD) is in the process of adopting an opinion on the areas of potential European collaboration in the field of NBS.
Read the Open Access article

National & International Policy Developments
Other European news
Launch of the first seed fund dedicated to innovative biotherapies and rare diseases in France: a joint action of the AFM-Téléthon and of the Fonds National d’Amorçage (FNA)
It is against this background that the AFM-Téléthon (which has been developing a variety of innovative therapeutic approaches over the past 25 years) and the Fonds National d’Amorçage (FNA) (which provides funds towards innovative biotherapies and rare diseases) have moved closer to constitute the first seed fund dedicated to innovative biotherapies and rare diseases. This action forms part of an "Environmental, Social and Governance" process.

With an initial endowment of 50 million Euros, for a final target of 120 million Euros, the fund aims to create a portfolio of 12 to 15 participants in companies at the seed stage. The amount invested will be between 3 and 10 million Euros per company. The AFM-Téléthon has contributed to a budget of 30 million Euros, and CDC Entreprise, via the FNA, has bestowed 20 million Euros.
The fund will target innovative SMEs with strong development potential that have been in existence for less than eight years. They must also follow standards that are consistent with the industrial development of therapies such as gene therapy, cell therapy, pharmacological modulation of gene expression, monoclonal antibodies, therapeutic proteins and immunotherapies.
Read the Press Release (in French)
Other International News
NZORD expresses concern over policies affecting rare disease patients in New Zealand

The New Zealand government has allocated NZ$ 23 million for payments to families caring for disabled adult children. Although this comes as a welcome decision for the rare disease community in New Zealand, New Zealand Organisation of Rare Diseases (NZORD) have expressed concern over the narrow criteria adopted by their government and hopes to be included in future policy developments that affect carers of rare disease patients.

In other news, the Pharmaceutical Management Agency (Pharmac) of New Zealand who determine the medications and related products to be subsidised for use in the community and public hospitals, have decided to not reimburse Soliris for patients suffering from Paroxysmal Nocturnal Haemoglobinuria (PNH). Soliris (Eculizumab) has been approved for the treatment of PNH in New Zealand and is reimbursed in more than 40 countries. However, according to Forbes, priced at US$ 409,500 per year per patient, Soliris is among the most expensive drug currently available in the market. Pharmac has pointed to the astronomical price of this medication to be the reason for their inability to fund Soliris for PNH patients. Both NZORD and PNH association of New Zealand have expressed concern over Pharmac's decision and believe this it is of detriment to PNH patients.
Visit the PNH association of New Zealand website
Read the New Zealand Organisation of Rare Diseases (NZORD) newsletter
Photo courtesy istockphoto

Guidance Documents and Recommendations
European Society of Human Genetics Recommendation on Whole Genome Sequencing in Health Care
Read the Open Access article
Primary immunodeficiency: International Union of Immunological Societies 2013 guidelines suggest a phenotypic classification that forms the basis for diagnostic trees
Consult the PubMed abstract
To read more about "Primary immunodeficiency"

J Clin Immunol. ; Epub ahead of print ; May 2013
Langerhans cell histiocytosis: recommendations from an expert panel on behalf of Euro-Histio-Net
Consult the PubMed abstract
To read more about "Langerhans cell histiocytosis"

Orphanet J Rare Dis. ; 8:72. ; May 2013
Q fever: recommendations for diagnosis and management from Centers for Disease Control and Prevention (CDC) and the Q Fever Working Group
Consult the PubMed abstract
MMWR Recomm Rep. ; 62(RR-03):1-30 ; March 2013
Emergency guidelines and documents on Orphanet

Emergency guidelines for Duchenne Muscular Dystrophy in English

Emergency guidelines for Ehlers-Danlos syndrome, vascular type in English

Emergency guidelines for Steinert myotonic dystrophy in English

Emergency guidelines for Cystic Fibrosis in Italian

Emergency guidelines for Familial Mediterranean fever in English

Bioinformatics, Registries and Data Management
Bioresource Research Impact Factor: measuring the value of biobanks and databases
An article published in Giga Science illustrates how quantitative measurement of the utility of biobanks and databases is possible by employing an indicator called Bioresource Research Impact Factor (BRIF). The BRIF initiative was introduced to create a set of questions to analyse and quantify the usefulness of Bioresources currently available. This article is a report of 2 BRIF workshops conducted to elucidate this concept. During these workshops the members of BRIF (134 members from 22 countries) identified key issues that will help creating this tool.

According to the authors the structure of BRIF will be similar to Journal Impact factor (JIF) where the significance of the bioresoursce will be gauged by the magnitude of its use rather than its “reputation”. According to the authors “its implementation thus depends on its ability to meet the requirements of multiple stakeholders to integrate with an already existing system of practices and parameters". An notable feature of this workshop was “choosing adequate digital identifier schemes” for each bioresource. Furthermore, the authors believe that the identifier scheme for each bioresource need not be created from scratch but can be based on existing ones (for eg., Clinical trial registration number by WHO). The authors stress that appropriate acknowledgment of a biobank or database in publications is paramount in determining its utility in the clinical and research community. For this purpose, the authors recommend creating uniform standards for citing web resources and are currently working with the European Association of Science Editors (EASE) to generate this criterion.

The workshop also came up with a number of parameters and measures for the calculation of BRIF that are “both objective as well as easily verifiable” (Table 3 of the article). Another key aspect according to the workshop is the accessibility and user-friendliness of the resource. To ensure accessibility and maintenance of high standards as well as good practices by bioresources the authors believe that “a set of principles and tools and guidelines” are required. Although the authors would like BRIF to be an international initiative as its current members include mostly North American and European counterparts, they are certain that once a “solid framework” for BRIF is laid down, it will be much easier to obtain figures on various bioresources and calculate the implication of each bioresource.
Read the Open Access article

Immune thrombocytopenic purpura: data from the Intercontinental Cooperative ITP Study Groups (ICIS)
Consult the PubMed abstract
To read more about "Immune thrombocytopenic purpura"

Blood ; 121(22):4457-62 ; May 2013

Ethical, Legal & Social Issues
Women in favour of noninvasive prenatal diagnosis for single gene disorders
An article published in Clinical Genetics has described the experience of women in the UK, at risk for delivering children with single gene disorders. This qualitative study showed that mothers preferred NIPD over invasive testing in all spectrum cases, from low to high risk, the reassurance provided by NIPD provided in the first trimester was considered far better. NIPD was also considered to be a good option for multiple pregnancies. However, the authors expressed concern that the women underestimated the “potential limits” to this approach. The authors ask that clear guidelines be made for these procedures so that ethical issues are taken care off.
Consult the PubMed abstract

The National Consultative Ethics Committee (CCNE) in France scrutinises the ethical issues associated with the development of foetal DNA tests in maternal blood
In the notice published on April 25, 2013, CCNE responds to a referral made in 2012 by the General Direction of Health, who asked for "a careful thought and an opinion on the ethical problems and issues raised by the development of this technique for prenatal diagnosis of genetic abnormalities of the fetus from a simple blood sample of the pregnant woman”.
After an introduction, recalling the CCNE notice of 2009 about the detection of trisomy 21 and also highlighting the scientific and medical context with the advent of different sequencing techniques, the report describes the medical, technical and ethical aspects of foetal testing of trisomy 21 in maternal blood. The third part discusses the challenges of expandin prenatal screening for genetic diseases and disabilities by sequencing foetal DNA in the blood of pregnant women. In the fourth part, "Proposals and food for thought", CCNE emphasizes the need for rigorous and scientifically relevant information. A detailed glossary of genetic terms concludes the document.
When speaking of the trisomy 21 foetal genetic test in maternal blood, CCNE considers that it does not replace the karyotype of foetal cells, but it does improve the currently used detection methods of amniocentesis or trophoblast biopsy. However CCNE insists on prior need to solve technical, organisational and economic issues before extending the provision of this technique.
With regard to the requirements of other foetal genetic testing on maternal blood, which would be clinically relevant, CCNE highlights the need to support their extension, and the need to associate to the very biomedical dimension of Genomics research, researches in humanities and social sciences. Based on the broad definition of health proposed by the WHO in 1946 and the UN Convention of 2006 on the Rights of Persons with Disabilities, the CCNE concludes, as a challenge to the conception of the relationship between health and normality, "that disabilities and diseases are also part of the operating characteristics of members of the human species. Therefore human normality (would) includes the disability and disease "(Weale, annual Days of ethics, Paris, 2012).
Read the opinion of the CCNE

Increased migration prompts the need for national plans addressing health care services for Haemoglobin disorders in the European Union

A study performed by the Thalassemia International Federation (TIF), published in The Scientific World Journal has reported on how the migration of people from regions with a high density of haemoglobinopathy (Hb) gene carriers to low density regions in Europe, is changing health care utilisation needs. This work is part of a study while formulating “White Book on the identification of the criteria for haemoglobinopathy reference centeres and networks in the European Union”. This study also examines the degree to which European health services have responded to such challenges in particular to health services necessary to address the control of rare anaemias and more specifically of haemoglobin disorders (Hb) disorders: thalassemia and sicke cell disease (SCD).

For this analysis 12 European countries were included which had a high number of migrant population from countries with high prevalence of the above diseases. These countries included Austria, Belgium, Cyprus, Denmark, France, Germany, Greece, Italy, The Netherlands, Spain, Sweden and the United Kingdom. They found that in a number of these countries the amount of people with Hb disorders was rising due to immigration. In addition the countries with high prevalence (Cyprus, Italy, Greece) are receiving people from other high prevalence areas (Middle-East, Africa). The consequence of this fact is that only the countries with a high number of indigenous population with Hb carriers had plans and policies in place for the treatment and prevention of Hb disorders while among countries with low number of indigenous people as Hb carriers only the UK and France have policies in place that meet the needs of these people. Authors believe that a proper national plan with registries and centres of expertise addressing the needs of patients and carriers of Hb disorders will considerably reduce the social and economic burden of these countries.
Read the Open Access article
Photo courtesy: dreamingyakker, Flickr
Reimbursement of 3 expensive drugs in the Netherlands: a longitudinal study

An article published in the Health Policy addresses how reimbursement decisions are determined. These decisions are full of uncertainity as many factors have to be considered during this time. The authors conclude that a cyclic approach to reimbursement is more useful than a single fixed decision making progress for long term value of money. They elucidated the case of the reimbursement of three expensive drugs imatinib, pegfilgrastim, adalimumab in Netherlands to demonstrate their point. The authors highlight that the uncertainity on all 3 factors effectiveness, cost-effectiveness and budget impact was substantial for all 3 drugs at the time of reimbursement decision. Although the authors believe that more evidence at the time of reimbursement decision making is more favourable, the inability of obtaining this evidence makes “a cyclic approach enhance(s) legitimacy of the system and may increase efficient allocation of resources”.
Consult the PubMed abstract

To be or not to be: an ethical conundrum for arbaclofen providers
An article in International Herald Tribune presented a unique ethical dilemma faced by developers of orphan medications. The providers of arbaclofen-an orphan drug being developed for the treatment of fragile X syndrome- have halted its production as it failed to meet its clinical endpoints for autism and fragile X syndrome. This has come as a major setback for one third of the patients and their parents, who benefited from the drug during the clinical trials. Although some patients benefited from this drug, the condition of many other patients worsened-one of the reasons why the drug failed in the clinical trials. Without being able to distinguish why the drug is beneficial to one group but not to another, the company (Seaside Pharmaceuticals) is compelled to stop producing these drugs. However, the patients who benefited from the drug, particularly the caretakers, want the company to keep providing the drug, which they have benefited from. According to Dr Michael R. Tranflaglia, a parent of child with fragile X syndrome and the medical director of Fraxa Research Foundation, “its kind of hard to make the argument that the company should keep providing it (arbaclofen) if its not working”. The article also indicated that some parents are turning to baclofen, a less potent drug from which arbaclofen is derived, which is a generic muscle relaxant that can be used to diminish symptoms of spasticity.
Access the International Herald Tribune article


Orphanet News

Orphanet has launched the Dutch language site: a collaborative success
Orphanet has extended its reach by launching the Dutch language Orphanet site. The translation of this site was one of the measures recommended by the Belgian Fund of Rare Diseases and Orphan Drugs (in 2011) that has already been implemented. The Belgian Scientific Institute of Public Health receives funding (for the period of 2012-2013) from the National Institute for Health and Disability Insurance (INAMI-RIZIV) for the translation of the Orphanet portal into the Dutch language (structural webpages, the lists with medical terms and scientific abstracts). By the end of 2013 around 500 abstracts are expected to be translated. The Dutch and Belgian Orphanet teams are working collaboratively to validate the translated lists of disease terms. Not only does this provide additional endorsement, it also ensures that certain Dutch synonyms relevant for the Netherlands (but not for Belgium) are included in the database.

Currently, Orphanet is available in French, English, German, Italian and Spanish and now the addition of Dutch will increase its access to a wider audience. Please check the Dutch Orphanet Website for more information.


New Syndromes

A pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder caused by mutations in B3GALT6 which alters glycosaminoglycans’ synthesis
The authors report that mutations in B3GALT6, the gene coding for an enzyme involved in the biosynthesis of the glycosaminoglycan linker region, were responsible for a severe multisystemic disorder, characterised by a unique combination of severe soft connective tissue and bone fragility with multiple early-onset fractures, spondyloepimetaphyseal abnormalities, and intellectual disability. B3GALT6 is responsible for spondyloepimetaphyseal dysplasia with joint laxity type 1 and for several Ehlers-Danlos syndrome variants. The pleiotropic phenotypes of the disorders indicate that B3GALT6 plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament.
Consult the PubMed abstracts

To read more about "Spondyloepimetaphyseal dysplasia with joint laxity"
To read more about "Ehlers-Danlos syndrome, progeroid type"

Am J Hum Genet ; 92(6):927-945 ; May 2013
Loss-of-function mutations in the IL-2 receptor gene cause a new primary immunodeficiency syndrome
In this study, authors report on two unrelated kindreds, with two patients each, who had cryptosporidial infections associated with chronic cholangitis and liver disease. For the first time, they identified two distinct homozygous loss-of-function mutations in the interleukin-21 receptor gene. The discovery and characterisation of the first patients with IL-21R deficiency highlight the critical role of IL-21-dependent signalling for the human immune system. Their results indicate that human IL-21R deficiency causes an immunodeficiency and highlight the need for early diagnosis and allogenic hematopoietic stem cell transplantation in affected children.
Consult the PubMed abstract

J Exp Med ; 210(3):433-43 ; March 2013
A novel form of severe combined immunodeficiency syndrome linked to CARD11 inactivation
A new form of profound combined immunodeficiency disorder caused by a genetic deletion in CARD11 has been discovered. Two children with consanguineous family history and with complete CARD11 deficiency suffered rather early in life from a unique profound combined immunodeficiency associated with hypogammaglobulinemia and Pneumocystis jirovecii pneumonia. The immunologic characterisation revealed the combination of impaired activation and especially up-regulation of inducible T-cell co-stimulator on T cells, together with severely disturbed peripheral B-cell differentiation, which apparently leads to a defective T-cell/B-cell cooperation and probably germinal centre formation and clinically results in severe immunodeficiency. Those studies disclose the crucial role of CARD11 in the antigen-specific immune response in human subjects.
Consult the PubMed abstracts

J Allergy Clin Immunol ; 131(2):477-85; 131(5):1376-83 ; February 2013
Mutation of IBA57 causes severe unique form of myopathy and encephalopathy
The authors report the first pathogenic mutation in the mitochondrial Fe/S cluster assembly gene IBA57 associated with a unique phenotype. Two siblings from consanguineous parents died perinatally with a condition characterised by generalised hypotonia, respiratory insufficiency, arthrogryposis, microcephaly, congenital brain malformations and hyperglycinemia. Catalytic activities of the mitochondrial respiratory complexes I and II were deficient in skeletal muscle, a finding suggestive of an inborn error in mitochondrial biogenesis. IBA57 is a culprit candidate gene, as it is known to be involved in the biosynthesis of mitochondrial proteins.
Consult the PubMed abstract

Hum Mol Genet. ; 22(13):2590-602 ; March 2013
A homozygous deletion in GRID2 causes a new human phenotype with cerebellar ataxia and atrophy
For the first time, a human phenotype associated with homozygous partial deletion of GRID2 has been described in 3 children in one large consanguineous Turkish family. GRID2 gene was for the first time associated with human disease. The phenotype associated with the defects in GRID2 includes nystagmus, hypotonia with marked developmental delay in gross motor skills in early infancy followed by a static encephalopathy course with development of cerebellar ataxia, oculomotor apraxia, and pyramidal tract involvement.
Consult the PubMed abstract

J Child Neurol ; Epub ahead of print ; April 2013

New Genes

Infantile myofibromatosis: mutations in PDGFRB found responsible in two separate studies
Consult the PubMed abstracts
To read more about "Infantile myofibromatosis"

Am J Hum Genet. ; 92(6):996-1000;1001-1007 ; May 2013
Generalised Dowling-Degos disease: POFUT1 mutations identified in a large Chinese family
Consult the PubMed abstract
To read more about "Dowling-Degos disease"

Am J Hum Genet. ; 92(6):895-903 ; May 2013
Kenny-Caffey syndrome and osteocraniostenosis due to heterozygous mutations in FAM111A
Consult the PubMed abstract
To read more about "Autosomal dominant Kenny-Caffey syndrome"
To read more about "Osteocraniostenosis"

Am J Hum Genet. ; 92(6):990-995 ; May 2013
BICD2 mutations linked to a new form of autosomal dominant congenital benign spinal muscular atrophy
Consult the PubMed abstracts
To read more about "Autosomal dominant congenital benign spinal muscular atrophy"

Am J Hum Genet. ; 92(6):946-954;92(6):965-973 ; May 2013
Sturge-Weber syndrome is caused by a somatic activating mutation in GNAQ
Consult the PubMed abstract
To read more about "Sturge-Weber syndrome"

N Engl J Med. ; 368(21):1971-9 ; May 2013
Cerebellar ataxia-hypogonadism can be caused by inactivating mutations in RNF216 or by the combination of mutations in RNF216 and OTUD4
Consult the PubMed abstract
To read more about "Cerebellar ataxia - hypogonadism"

N Engl J Med. ; 368(21):1992-2003 ; May 2013
Familial isolated congenital asplenia by haploinsufficiency due to heterozygous mutations in RPSA
Consult the PubMed abstract
To read more about "Familial isolated congenital asplenia"

Science ; 340(6135):976-8 ; May 2013
Microcephaly, intellectual deficiency, and distinctive facies with cardiac and genitourinary malformations: homozygous THOC6 mutation identified
Consult the PubMed abstract
Orphanet J Rare Dis. ; 8(1):62 ; April 2013
Infantile osteopetrosis with neuroaxonal dysplasia: homozygous deletions affecting OSTM1 involved in two unrelated consanguineous families
Consult the PubMed abstract
To read more about "Infantile osteopetrosis with neuroaxonal dysplasia"

Bone ; 55(2):292-7 ; August 2013
Testicular seminoma: 5 different studies identify new susceptibility loci
Consult the PubMed abstracts
To read more about "Testicular seminoma"

Nat Genet. ; 45(6):680-5; 45(6):686-9 ; May 2013
Hum Mol Genet. ; 22(13):2748-5 ; July 2013
PLoS Genet. ; Epub ahead of print ; April 2013
Hum Reprod. ; Epub ahead of print ; May 2013
Atypical chronic myeloid leukemia: activating mutations in the gene encoding the receptor for colony-stimulating factor 3 CSF3R found responsible
Consult the PubMed abstract
To read more about "Atypical chronic myeloid leukemia"

N Engl J Med ; 368(19):1781-90 ; May 2013

Research in Action

Clinical Research
Clear cell renal carcinoma: longer progression-free survival with axitinib versus sorafenib in a phase III trial
Consult the PubMed abstract
To read more about "Clear cell renal carcinoma"

Mesothelioma: no benefit in time to progression with the addition of thalidomide maintenance to first-line chemotherapy
Consult the PubMed abstract
To read more about "Mesothelioma"

Severe haemophilia A: factor VIII prophylaxis decreases inhibitor risk, especially in patients with low-risk F8 mutations
Consult the PubMed abstract
To read more about "Severe hemophilia A"

Blood ; 121(20):4046-55 ; May 2013
Systemic sclerosis: tocilizumab and abatacept appeared to be safe and effective on joints
Consult the PubMed abstract
To read more about "Systemic sclerosis"

Ann Rheum Dis. ; 72(7):1217-20 ; July 2013
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease: mycophenolate mofetil improves lung function
Consult the PubMed abstract
To read more about "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease"

J Rheumatol. ; 40(5):640-6 ; May 2013
Epidermolysis bullosa simplex, Dowling-Meara type: relevant effect of a topical formulation of diacerein 1% in a pilot study with 5 patients
Consult the PubMed abstract
To read more about "Epidermolysis bullosa simplex, Dowling-Meara type"

Orphanet J Rare Dis. ; Epub ahead of print ; May 2013
BAP1-related tumor predisposition syndrome: renal cell carcinoma should be added to the tumor spectrum of this syndrome
Consult the PubMed abstract
To read more about "BAP1-related tumor predisposition syndrome"

Am J Hum Genet. ; 92(6):974-980 ; May 2013
Familial Mediterranean fever: clinical diagnosis in very young heterozygous children should be made with caution
Consult the PubMed abstract
To read more about "Familial mediterranean fever"

Arthritis Rheum. ; 65(6):1654-62 ; June 2013
Childhood brain tumours: the UTSS region is a potentially accessible biomarker for various cancers
Consult the PubMed abstract
Lancet Oncol. ; 14(6):534-42 ; May 2013
Gene Therapy
Farber lipogranulomatosis: treatment of neonates with a single injection of human ACDase-encoding lentivector diminishes the severity of the disease
Consult the PubMed abstract
To read more about "Farber lipogranulomatosis"

EMBO Mol Med ; 5(6):827-42 ; June 2013
Achromatopsia: transient photoreceptor deconstruction by ciliary neurotrophic factor enhances rAAV-mediated cone functional rescue in late stage
Consult the PubMed abstract
To read more about "Achromatopsia"

Mol Ther. ; 21(6):1131-41 ; June 2013
Autosomal recessive nonsyndromic sensorineural deafness type DFNB: connexion-related genetic hearing loss is treatable by in vivo gene therapy
Consult the PubMed abstract
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Mol Ther. ; 21(6):1131-41 ; June 2013
Recessive dystrophic epidermolysis bullosa: TALEN-mediated in situ correction of an endogenous patient-specific gene mutation
Consult the PubMed abstract
To read more about "Dystrophic epidermolysis bullosa"

Mol Ther. ; 21(6):1151-9 ; June 2013
Therapeutic Approaches

Spinocerebellar ataxia type 3: caffeine decreases striatal pathology
Consult the PubMed abstract
To read more about "Spinocerebellar ataxia type 3"

Ann Neurol. ; 73(5):655-66 ; May 2013
Huntington disease: Small-molecule TrkB receptor agonists improve motor function and extend survival in a mouse model
Consult the PubMed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 22(12):2462-70 ; June 2013
Systemic sclerosis: blockade of canonical Wnt signalling shows antifibrotic effects
Consult the PubMed abstract
To read more about "Systemic sclerosis"

Ann Rheum Dis. ; 72(7):1255-8 ; July 2013
Spinocerebellar ataxia type 7: interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in-mice
Consult the PubMed abstract
To read more about "Spinocerebellar ataxia type 7"

Brain ; 136(6):1732-45 ; June 2013
Down syndrome: upregulating SNX27 in the hippocampus of Down’s syndrome mice rescues synaptic and cognitive deficits
Consult the PubMed abstract
To read more about "Down syndrome"

Nat Med. ; 19(4):473-80 ; April 2013
Haemophilia A: progress toward inducing immunologic tolerance to factor VIII
Consult the PubMed abstract
To read more about "Hemophilia A"

Blood ; 121(22):4449-56 ; May 2013
Diagnostic Approaches

Fanconi anemia: description of a strategy for efficient molecular diagnosis
Consult the PubMed abstract
To read more about "Fanconi anemia"

Blood ; 121(22):e138-48 ; May 2013

Patient Management and Therapy
Acute lymphoblastic leukemia: two reviews on advances in epidemiology, pathobiology and clinical management
Consult the PubMed abstracts
To read more about "Acute lymphoblastic leukemia"

Lancet ; 381(9881):1943-55 ; June 2013
Lancet Oncol. ; 14(6):e205-17 ; May 2013
Brittle cornea syndrome: a summary of phenotypic data and recommendations for clinical management
Consult the PubMed abstract
To read more about "Brittle cornea syndrome"

Orphanet J Rare Dis. ; 8:68 ; May 2013
Cryopyrin-associated syndrome: guidance on the use of canakinumab in Japanese patients
Consult the PubMed abstracts
To read more about "CINCA syndrome"
To read more about "Familial cold urticaria"
To read more about "Muckle-Wells syndrome"

Mod Rheumatol. ; 23(3):425-9 ; May 2013

Orphan Drugs
Regulatory News
CHMP provides positive opinions for three orphan medicinal products
The CHMP has provided a positive opinion for the following medicinal rpoducts with orphan designation
Pomalidomide Celgene for the treatment of multiple myeloma.
Vonceto for the prevention and treatment of bleeding in von Willebrand disease and haemophilia A (congenital FVII deficiency)
Lojuxta (lomatipide) for the treatment of homozygous familial hypercholestorelemia.

Political and Scientific News
Review describing animal models for rare diseases: a compilation from EMA and peer-reviewed literature

A valuable article for researchers and clinicians in the field of rare diseases in Nature Reviews Drug Discovery on a major issue that impede drug development in this area-“the use of animal models in preclini¬cal studies that are not closely based on the knowledge of the molecular pathology of the human disease”. To assist researchers in determining an appropriate animal model that will reinforce success in preclinical trials, the authors have brought together the current knowledge of the animal models used for studying treatments for orphan diseases. In this review the authors focus on animal models for rare metabolic, neuromuscular diseases and ophthalmological diseases. Most of the animal models described in this article have been a part of preclinical research for medicinal products submitted to the European Medicines Agency (EMA)’s Committee for Orphan Medicinal Products (COMP). This review provides the reader with information on a "broad range of animal models (from small transgenic rodents to large animals with naturally occurring disease)" that can be used for preclinical research.
The authors illustrate animal models that are currently suitable for preclinical research and also the ones that may need improvement. Although a variety of animals are used in preclinical studies, most are rodents (mice and rats) as they are economical to maintain and because most of the transgenic research data is on rodents and not larger animals. The authors however emphasise that “there are limitations associated with the use of rodent models of disease, including their size and pathophysiological parameters”. The authors recommend the correct use of higher animals when rodents are unable to provide results that can be correctly extrapolated to humans. Another essential subject for success in preclinical trials, highlighted by the authors is the “rigorous application of statistics . According to the authors this aspect “not only provide(s) an accurate analysis of results but also improve(s) experimental design increase(ing) the chances of obtaining results that are robust” for this purpose “the EMA has published guidelines to help with trial design, hence facilitating clinical trials for rare diseases”. The authors also provide examples of models that can be used for advanced therapies (especially gene and cell therapy) as the EMA has considerable expertise in evaluating these. In conclusion, this review has provided an extensive analyses which will aid in “efficient and successful research and development of OMPs”.
Consult the PubMed abstract

Two reviews discuss therapeutic approaches for Duchenne muscular dystrophy.

The review published in Drug Discovery Today: Therapeutic Strategies, highlighted the current progress in the development of antisense oligonucleotides (AON) as personalised medicine for treating Duchenne muscular dystrophy (DMD) patients. DMD is a severe X linked neuromuscular disorder where symptoms may arise as early as 2 years of age and patient surviving till adulthood is extremely rare. This is caused by mutations in dystrophin-a critical gene for muscle fiber strength- leading to a severe reduction of the dystrophin protein in muscles. A milder form DMD is Becker’s muscular dystrophy (BMD), caused by distinct mutations in the same gene which conserves some protein function. An insight into the differential consequence of the distinct mutations on the same gene, researchers have developed AON’s that skips exon 51 in the dystrophin gene (like in BMD) and aids in conserving some of the protein function (observed in BMD patients) in patients suffering from DMD. The authors discuss the preclinical development of two antisense therapies- drisapersen and eteplirsen- two chemically distinct drug candidates which have demonstrated the features of exon 51 skipping. The authors believe in the potential of both drugs although both have “advantages and disadvantages with regard safety and pharmacokinetics”. The authors stress that “increasing lower prevalence of mutations, a non-standard, orphan drug-tailored design of clinical studies is required and they believe that the advent of the AON technology along with ongoing developments bring personalised medicine for these patients a reality”.
Read the abstract

Another review in Nature Reviews Genetics has also elucidated the current treatment modalities for DMD. In conjunction with Exon skipping AON therapy, this review highlights progress in viral gene therapy-which although laced with a chequered past, has come of age. Notwithstanding challenges, such as combating the delivery of a large sized RNA and the difficulty of targeting all muscles, considerable advancement is observed in optimising viral therapy. The authors also discuss the drug Ataluren which has “demonstrated proof of principle of reading through stop codons as an approach to therapy” but has yet to show clinical safety and efficacy. A promising treatment strategy highlighted in this article is increasing the levels of Utrophin, which is a dystrophin related protein that can functionally compensate for dystrophin in mdx mouse. Although clinical trials are underway for this type of treatment, whether utrophin levels in patients can be increased to the levels where therapeutic benefit will be observed is unknown. There is much accomplished in this field and many challenges to overcome to arrive at the optimal treatment of DMD, but the authors believe that the substantial improvement from the past 5 years is a good indication of things to come.
Consult the PubMed abstract



NORD announces seed grants for rare disease research
NORD has announced funding opportunities in 6 areas of rare disease research. NORD has invited applicants from within the US and overseas to apply. Full proposals are due by 11 September 2013. Researchers with projects in the following areas are encouraged to apply

RFPs for Pseudomyxoma Peritonei (PMP), Spring 2013
Two grants are available through NORD ($50,000/grant) for research related to Pseudomyxoma Peritonei (PMP).

RFP for Growth Failure in Children with Cardiofaciocutanous (CFC) Syndrome
Funding is available ($30,000) for research on growth failure in children with cardiofaciocutaneous (CFC) syndrome.

RFP for Glycine Encephalopathy, aka Nonketotic Hyperglycinemia, Spring 2013
Funding for research related to Glycine Encephalopathy, aka Nonketotic Hyperglyinemia, is available through NORD's Research Seed Grant Program ($34,000).

RFP for Adult Primary Lateral Sclerosis (PLS)
Funding is available ($30,000) for research on Primary Lateral Sclerosis (PLS).

RFP Available for Research Related to Dubowitz Syndrome
Funding is available ($30,000) for research on Dubowitz Syndrome
For further details

The Rare Disease Foundation launches second call for research projects in 2013 'High throughput sequencing and rare diseases'
This call for proposals is dedicated to the identification of new genes involved in rare diseases by Exome Sequencing. Deadline for submission of proposals: 20 June, 2013. Further details

Care-for-Rare Science Award 2013

The Care-for-Rare Science Award 2013, sponsored by the Werner Reichenberger Foundation, has announced a 50,000 Euro award for young scientists to provide an opportunity to initiate basic or clinical research on rare diseases. This award is for researchers who wish to study the biological mechanisms leading to rare diseases or development of new diagnostic and/or therapeutic strategies. The Care-for-Rare Foundation supports interdisciplinary and international collaboration to develop new innovative therapies for affected children.The application is open for single scientist or groups of scientists in Germany. Junior researchers (< 40 years) are explicitly encouraged to apply. Application deadline is 30 July, 2013. More details are available at www.care-for-rare.org. For more information Please contact Dr. Wolschner (christina.wolschner@med.uni-muenchen.de)2013 Request for Research Proposals for research on the Histiocytic Disorders

2013 Request for Research Proposals for research on the Histiocytic Disorders
The Histiocytosis Association have announce the launch of the 2013 Request for Research Proposals (RFRP). Each year, the Association awards individual research grants to promote better treatments and a cure for histiocytic disorders for scientists around the world. Proposals for scientific research will be accepted for studies into the causes, mechanisms, and improved means of treatment for histiocytic disorders. They will be evaluated on the basis of science, feasibility, and relevance. Application deadline is 31 July 2013. Further details
For any additional questions or concerns, please contact grants@histio.org.

Jérôme Lejeune Foundation - Research Projects
The foundation will support projects of basic or clinical research (neuroscience, behavior, genetics, molecular biology, therapy, etc.) that is intended to result in the discovery of treatments to improve the capacity of patients with genetic diseases with intellectual disabilities, especially the Trisomy 21 (except autism). Projects oriented towards clinical studies will be given priority. Application deadline is: 19 August 2013 .
Consult the website For further information email conseilscientifique@fondationlejeune.org

LMC France funding for Chronic Myeloid Leukemia research projects
The association will support research projects that will engage in studying biological basis of chronic myeloid leukemia. This project can be designed and presented by one or more teams of biology and basic research and/or a team or a group of clinical research. Deadline for applications submission: 30 June 2013
Consult the website
For further information email contact@lmc-france.fr


Partnersearch, Job Opportunities
Grantholder position for the establishment of the European Technological Platform on Rare Diseases
The JRC Institute for Health and Consumer Protection started recruitment for the Grantholder position for establishing the European Technological Platform on Rare Diseases. The tasks will involve liaising with the Rare Diseases expert communities and patient organisation. Candidates with extensive experience working in the field of RD and/or epidemiology are encouraged to apply: For further details

Courses & Educational Initiatives

International Summer School “Clinical practice guidelines on rare diseases”
Date: 8-12 July, 2013
Venue: Rome, Italy

Istituto Superiore di Sanità is inviting applications from participants who would like to learn more about development process of clinical practice guidelines.
The following topics will be covered:
o Identifying key clinical issues to be included (scope)
o Developing review questions using PICO and planning the systematic review
o Identifying evidence: formulating, executing and documenting a search strategy
o Assessing the quality of relevant studies, summarizing and interpreting the body of evidence to make recommendations
o Obtaining formal consensus in the absence of evidence (Delphi-like method)
o Appraising synthesis documents: guidelines and systematic reviews
The course format consists of brief presentations followed by individual or small group exercises.
This course is free of charge and application/registration is currently open. Please, feel free to circulate this information to those who may have an interest in attending. Application deadline is 30 July 2013.
For further details

The 1st radiz Rare Diseases Summer School
This course scheduled for 4-6th July 2013 in Zurich, Switzerland will focus on a wide variety of subjects in the area of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. These will be presented in the form of lectures by international experts on rare diseases. Please apply by sending a short CV, a letter of motivation including a brief description of your project or research interest, and one letter of recommendation to For further information email saskia.karg@kispi.uzh.ch. For further details

What's on Where?

6th International Conference on Children's Bone Health
Date: 22-25 June 2013
Venue: Rotterdam, Netherlands

The conference is to try to get a better understanding in healthy and disease states of bone development by discussing molecular pathways as well clinical characteristics.
For further details

Cardio-Facio-Cutaneous (CFC) meeting; strategies to study RASopathies and other rare diseases
Date: 24 June 2013
Venue: Haifa, Israel

This meeting will review the RAS pathway related developmental anomalies (RASopathies) with a focus on the CFC molecular and cellular mechanism of action as well as different therapeutic strategies for rare diseases.
For further details

Fifth BHD Symposium and Second HLRCC Symposium
Date: 28-29 June 2013
Venue: Paris, France

This conference will be an excellent opportunity for stakeholders of Birt-Hogg-Dubé Syndrome to participate and network. The conference will comprise of invited lectures by worldwide experts, followed by panel discussion, and will also include a poster exhibition
For further details

9th European Cytogenetics Conference
Date: 29 June - 02 July 2013
Venue: Dublin, Ireland

An opportunity for cytogeneticists to come together to discuss developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further details

Myasthenia 2013
Date: 1-2 July 2013
Venue: Paris, France

Supported by the European FIGHT-MG network, this conference aims to bring researchers, scientists, clinicians and patients together to discuss current progress on Myasthenia Gravis (MG). The conference will cover mechanisms of autoimmunity, contribution of the genetics, hormones and environment on aetiology, potential therapies and psychological changes of MG patients.
For further details

LeukoTreat Final Public Conference
Date: 3-6 July 2013
Venue: Berlin, Germany

The LeukoTreat project funded by the European Commission under the 7th Framework Programme for Research and Development aimed at developing therapeutic strategies for leukodystrophy (LD) as well as more common white matter disorders and neurodegenerative diseases. In this final conference the results of the project will be presented and discussed.
For further details

Haemophilia centres certification system across Europe
Date: 11 July 2013, 9:00 a.m. - 1:30 pm
Venue: Rome, Italy

The objective of the Meeting is the exchange of accreditation and certification experiences in use in different EU Member States. During the event the new European Standards for Haemophilia Centres developed in the context of EUHANET project (www.euhanet.org) will be presented to be followed by a national seminar for Italian Regional Authorities on the implementation of a guideline for HCs institutional accreditation approved by the State-Regions Agreement of March 12, 2013
For further details visit www.centronazionalesangue.it

8th International Prader-Willi Syndrome Conference
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details

International Symposium on Urea Cycle Disorders (UCD)
Date: 1-2 September 2013
Venue: Barcelona, Spain

The symposium will focus on recent advances in UCD clinical and translational research which provide insights into the pathophysiology of these disorders. These advances will form the basis for the development of novel therapeutic approaches for UCDs that aim at decreasing mortality and preventing the effects of hyperammonemia on brain function. The satellite symposium will provide a forum for international researchers, clinicians, trainees and patients’ families to share and discuss research in UCD. This meeting will be the first formal joint meeting between the Urea Cycle Disorders Consortium (UCDC) and the European-Registry and Network for Intoxication Type Metabolic Disease (E-IMD).
For further details

International Congress of Inborn Errors of Metabolism
Date: 3-6 September 2013
Venue: Barcelona, Spain

The organisers have put together an ambitious and high level scientific programme, allowing the participation of multidisciplinary delegates where important topics and cutting edge research on inborn errors of metabolism will be discussed.
For further details

Orphan Drugs Summit 2013
Date: 11-13 September 2013
Venue: Copenhagen, Denmark

This commercial event will highlight several burning topics revolving market authorisation of Orphan Medicinal Products such as market access, regulatory framework, clinical trial development as well as financing.
For further details

2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
Date: 17-18 September 2013
Venue: Salzburg, Austria

The conference will present and discuss the work packages initiated during the 2012 EB clinet meeting.
For further details

Second Symposium on ATP1A3 in disease Genotype/Phenotype Correlations, modelling and identification of potential targets for treatment
Date: 23 - 24 September 2013
Venue: Rome, Italy br>
The aim of this Symposium is to present the progress of research undertaken on Alternating Hemiplegia of Childhood (AHC), after the finding of the ATP1A3 gene as the primary cause of this rare neurological disease. The symposium also aims to promote international collaboration and recruit new teams of researchers. Clinical aspects of the disease such as genotype/phenotype correlations will also be highlighted as well as possibilities towards the establishment of clinical trials for AHC.
For further details

EUROPLAN National Conferences Finland
Date: 21 September 2013
Venue: Helsinki, Finland

Organised by Finnish Rare Diseases Alliance (HARSO)

1st Iberoamerican Conference on Rare Diseases
Date: 24 - 25 September 2013
Venue: Brasilia, Brasil br>
This event will be held at University of Brasilia, Catholic University of Brasilia, where stakeholders of rare diseases nationally and internationally will be coming together to share their views .
For further details

EUROPLAN National Conferences Poland
Date: 26-28 September 2013
Venue: Krakow, Poland

Organised by Polish National Forum for rare diseases therapy (ORPHAN)
For further details visit www.rzadkiechoroby.pl

EUROPLAN National Conferences Italy
Date: 26 September 2013
Venue: Rome, Italy


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

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

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


HGV2013: 14th International Meeting on Human Genome Variation and Complex Genome Analysis
Date: 30 September - 2 October, 2013
Venue: Seoul, South Korea
HGV2013 will bring together human geneticists from around the world to explore and share the latest in genetic technology, cancer genetics, population genetics, genomic medicine and more. This 3 day meeting will include plenary talks from over 25 high-profile speakers with over 200 posters, a student-mentor luncheon, a journal publishing workshop, and plenty of networking opportunities.
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

EUROPLAN National Conferences The Netherlands
Date: 7-8 November 2013
Venue: Amsterdam, The Netherlands

Organised by Dutch Genetic Alliance (VSOP)

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 Luxembourg
Date: 20 November 2013
Venue: Luxembourg

Organised by Luxembourg Alliance for Rare Diseases and Neuro Muscular Diseases (ALAN)

XIIIth International Congress on Neuromuscular Diseases (ICNMD)
Date: 5-10 July 2014
Venue: Nice, France

ICNMD is regular meeting of the Research Group on Neuromuscular Diseases-World Federation of Neurology that takes place every 4 years for the past 50 years. This conference will present a unique opportunity for sharing scientific advances by those involved in the fields of improving care, understanding disease pathogenesis, and developing innovative treatments in muscle, neuromuscular junction, peripheral neuropathies and motor neuron diseases.
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, Sophie Höhn, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

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), Zsuzsanna Lengyel (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Annick Raas-Rotshild (Israel), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (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, Dian Donnai, Laura Fregonese, 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, Sophie Koutouzov, 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: Tamara F. Sarkisian (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), András Becskeházi (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Viadutis 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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