17 August 2013 print
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Commission Decision sets up a new expert group for rare diseases to follow in EUCERD's footsteps

The European Union Committee of Experts on Rare Diseases (EUCERD) was charged, during the past three years, with aiding the European Commission with the preparation and implementation of Community activities in the field of rare diseases, in cooperation and consultation with the specialised bodies in Member States, the relevant European authorities in the fields of research and public health action and other relevant stakeholders acting in the field.

The European Commission, recognising the valuable work carried out by EUCERD over its 3 year mandate and acknowledging a continuing need for a group of experts in this area, published on 30 July 2013 a Decision to establish a "Commission expert group on rare diseases" taking into account the framework for Commission expert groups, which means that this new committee will be chaired by a representative of the European Commission, no longer by an expert. The group is expected to have the same range of missions and mode of functioning as the EUCERD, as it will provide the Commission with “advice and expertise in formulating and implementing the Union’s activities in the field of rare diseases and foster exchanges of relevant experience, policies and practices between the Member States and the various parties involved”. As was the case for the EUCERD, this expert group will consist of representatives belonging to diverse stakeholder groups in the field of rare diseases as well as representatives from Member States.

The Commission Decision will soon be followed up by a call for expression of interest in order to nominate the members of the new expert group that OrphaNews will spread up to all its registered readers.

Click here to obtain further details on the Commission Decision setting up a Commission expert group on rare diseases.

Spotlight on...
Cost Action representing European network for congenital Imprinting calls for partners to join them
COST Action, BM1208, represents the recently established European network for congenital Imprinting disorders (Learn more). This action currently includes more than 30 groups from 12 European countries (clinicians, geneticists, molecular biologists, patients organisations, SME), aiming on standardisation of treatment and diagnosis of Imprinting disorders (e.g. Prader-Willi, Angelman syndrome), on networking research and dissemination of findings. A specific website for the Network (http://www.imprinting-disorders.eu) is currently under construction. This is a growing network and is expecting more groups from 10 European countries (and non-European partners) to participate.
An interview with the Chair for a new COST Action, BM1208, Dr. Thomas Eggerman enlightens us with more information on the European network for Congenital Imprinting

OrphaNews Europe: What is the idea of developing a network for congenital imprinting disorders? What are going to be the key factors?
Dr. Thomas Eggerman: Imprinting disorders (IDs) are an under-diagnosed group of conditions that impact on human growth, neurodevelopment and metabolism due to unique molecular mechanisms involving the interaction of epigenetics and genetics. They affect at least 7,500-10,000 patients in the EU and predispose to obesity, diagnosis and cancer. Until now, research on IDs has been fragmented and focused on single disorders, without general strategies to decipher the common underlying mechanisms. There has been no standardised clinical assessment or management of IDs, resulting in fluctuations in both diagnostic workup and standards of care. Furthermore, molecular diagnosis of IDs is not uniformly available and standardised throughout Europe, resulting in variability of diagnosis and of resultant management for patients. Progress in our understanding and management of IDs requires the co-ordinated efforts of specialist clinicians (general pediatricians and pediatric endocrinologists), molecular geneticists, basic scientists, epidemiologists and bioinformaticians, as well as, critically, the experience of patients groups. We have therefore founded the European Network of congenital imprinting disorders (EUCID.net), supported by the European networking program COST (Action BM1208). EUCID.net is a pan-European interdisciplinary network to promote ID research from molecular studies to treatment, to improve the standard of clinical and molecular diagnosis for IDs across Europe, and to educate the public and professionals about the disorders.

OrphaNews Europe: What factors helped you to create this network?
Dr. Thomas Eggerman: Several partners in our network have longstanding links, through national ID networks, collaborations with patients support groups and bilateral international co-operation activities; but there was no co-ordination of work on the European level. The idea of a network developed in autumn 2011 during extensive discussions between our partners from DE, DK, FR, IT and UK. As the result of our discussions, we submitted our first proposal to the European COST program in summer 2012, and with the invaluable support of COST we could start our Action BM1208 in May 2013. As our COST Action evolved, we contacted groups all over Europe: so far, we have received positive feedback from 41 groups from 20 European countries, including SMEs and patients’ organisations.

OrphaNews Europe: Who are your key collaborators? What are their roles?
Dr. Thomas Eggerman: The COST Action brings together expertise on IDs from experts from all over Europe, and will be run in five inter-dependent and interdisciplinary working groups (WGs). The WGs cover the five major topics of the Action (clinics, research, diagnosis, capacity building, dissemination), and they are headed by experts in the respective fields (I. Netchine/Paris, I.K. Temple/Southampton; Z. Tümer/Glostrup, D. Monk/Barcelona; D. J. Mackay/Salisbury, K. Gronskønskov/Glostrup; A. Riccio/Napoli, E.R. Maher/Cambridge; A. Linglart/Paris). Leader and co-leader are responsible for the coordination, organisation and supervision of the WGs. Together with the Chair and the Vice-Chair of the Action (T. Eggermann/Aachen, I. Netchine/Paris), the WG leaders and co-leaders constitute the Steering Committee (SC) which coordinates the WG activities and monitors the progress of the network. The Action is generally overseen and evaluated by the Management committee (MC) which coordinates the key issues of the Action. The MC consists of two representatives per participating country.

OrphaNews Europe: What are the goals of this network? How long will it take to reach these goals?
Dr. Thomas Eggerman: Altogether, we aim at joining forces and complementing studies to increase the life quality of patients and to reduce health care costs. By fostering active collaboration and exchange of scientific knowledge, our network will avoid inefficient and overlapping research in Europe and will further strengthen the pre-eminent position of European groups in the field of IDs. The stakeholders (e.g. IRDiRC, EUORDIS, EUCERD) can expect data on the frequencies of IDs, their molecular basis, and - as the ultimate goal - specific and personalised therapeutic strategies. Additionally, patients and their families will contribute their own areas of interest.

OrphaNews Europe: Can you describe how COST is helping you in building this network?
Dr. Thomas Eggerman: COST is a framework for European Cooperation in Science and Technology, which aims to coordinate nationally-funded research on a European level. By providing a flexible, centrally supported platform for meetings and networking, the COST program will enable co-ordination of national activities into European networks, build capacity, and integrate high-quality scientific communities throughout Europe and worldwide. As mentioned before, already 41 expert groups from 20 COST countries have expressed their interest in this Action. We plan to connect with teams from further European countries, Canada, Australia, USA, and other parts of the world.
To illustrate the value of COST for our network and for European-wide networking in general, I briefly want describe the tools of this program:
• By Short Term Scientific Missions (STSMs) and perioidic training workshops (called the Imprinting School) we will train early stage scientists and clinical scientists with specific skills in the field of IDs and (epi)genetics.
• By scientific meetings and conferences we will disseminate our knowledge and transfer know-how from the Action members to the scientific community, the patients´organisations and the general public.
• A key activity of our network is our project website (http://www.imprinting-disorders.eu). This website represents a forum for discussion for researchers and a platform of knowledge, including relevant links. The visitor will find announcements of events and calls for additional participations to the Action. We also expect that this site will be a platform for discussion for affected individuals and patient organisations.

OrphaNews Europe: Are there any other funding sources? How do you plan to sustain the network?
Dr. Thomas Eggerman: The COST Action BM1208 has already a close interaction with numerous national and international research programmes, e.g. the EU-FP7 INGENIUM Marie-Curie ITN, the French national center of reference for Prader-Willi syndrome, EuroPHPnet, the German Imprinting Network, the French center of reference for rare disorders of calcium and phosphorus metabolism. In addition to these interactions EUCID.net interacts with the world-wide and European stakeholders working on rare diseases, e.g. IRDiRC, EURORDIS, EMQN, and EUCERD. The network partners collaborate with national patient groups, and the German patients’ organisation BKMF (Bundesverband Kleinwüchsiger Menschen und ihre Familien e.V.) is member of EUCID.net. It is therefore vital that the leading European experts in the field of IDs support this COST Action. With the support of COST we will develop program proposals to be submitted for future European and national funding calls. To answer your question about sustaining our Activities: COST can be regarded as the catalyst of our EUCID.net, which is just at its inception.
OrphaNews Europe: How will this benefit the rare disease community?
Dr. Thomas Eggerman: IDs share a common pathophysiology, and we share a common aim to advance knowledge, and translate it into better diagnostic and clinical management to benefit patients and their families. It is imperative that ID research in the EU should incorporate the expertise of all interested stakeholders, including academics, clinicians, SMEs and patients from both COST and non-COST countries. Our main motivation is to defragment and harmonise research, diagnostics and treatment, clinical and educational activities on IDs.
This COST Action will, for the first time, draw together workers of all eight known human IDs. We will harmonise a common ID classification system, develop guidelines for treatment through consensus, create standard operation procedures (SOPs) for diagnosis based on best current practice, coordinate databases held in different countries to make them compatible and useful as a springboard for collective research initiatives, identify new imprinting disorders through collaborative effort, educate researchers and stimulate translational exchange. The ID network will join forces and complement studies to reduce health care costs and increase the life quality of patients.

OrphaNews Europe: Do you think this network will contribute to the goal of IRDiRC of 200 therapies and means to diagnose most rare diseases by 2020? If yes, how?
Dr. Thomas Eggerman: The main reason for the Action is that the knowledge about the causal pathomechanisms leading to IDs is sparse, although a small number of underlying genetic and epigenetic factors are already known. Due to their rarity most of the IDs are not well known to many clinicians and therefore often remain undiagnosed, resulting in unsatisfactory and inefficient therapies and lack of predictive medicine. While valuable conventional treatments (hormone replacement or modulation, tumour surveillance, physiotherapy) exist, they have not yet been harmonised into personalized medicine framed by ID-specific guidelines, and there is no coordinated European forum for interaction between researchers, clinicians and patients. Our unique interdisciplinary network will not only identify genetic and epigenetic factors in IDs but also link them to phenotypic traits and potential pathophysiological mechanisms, as well as treatments and European-wide clinical trials. By these activities our network will be a crucial reference for consultation and support to clinicians and geneticists from countries less advanced in clinical and genetic diagnosis of IDs.

As a first step to achieve these objectives, we will standardise the clinical and molecular diagnosis of the different IDs. We believe that the development of novel diagnostic tests and management guidelines will result in a timely and satisfactory diagnosis for IDs and allow individualised optimal treatment as early as possible. These improvements will significantly enhance the quality of life of patients and their families. Specific actions will target patients and families, aiming to improve their knowledge about their disease, encourage research involvement and clinical trial participation and stir up adherence to treatment and preventive medicine.
By deciphering the molecular mechanisms underlying IDs, and development of appropriate models, our network takes the first steps towards targeted interventions, personalized medicine, preventative strategies for better ageing and supplying the basis for future clinical trials and orphan drugs. This will reduce the use undirected and unnecessary therapies. In general, epigenetic testing will become as important a diagnostic tool as genetic testing is now, and work on rare epigenetic disorders is likely to have broad ranging impacts on our knowledge of more common diseases. This may lead to of the development of more cost-effective diagnostic tests for disorders like cancer and cardiovascular disease.
The interdisciplinary exchange of clinicians and scientists from academic institutions, SMEs and patients´ organisations in our network is urgently required to achieve these aims and to gather significant data from all known IDs. The resulting data are the prerequisite for successful research of molecular causes of IDs and for the development of novel diagnostic and therapeutic regimes. EUCID.net will thereby significantly contribute to connection and harmonisation of databases as the key factor to reach the IRDiRC goals for the eight IDs.

OrphaNews Europe: What are the challenges you face or are expecting to face for setting up this network?
Dr. Thomas Eggerman: Our network is innovative as it brings together researchers from academic, clinical and industrial settings who share a common goal of improving the field of European ID research in a logical and co-ordinated manner. Of course, our participants from different fields (clinicians, scientists, industry, patients) from 20 European countries have to learn to speak the same language, in respect to the language itself as well to our specific fields of interest. However, with our first general meeting for all participants in October 2013 in Aachen we will overcome this obstacle and learn from each other. Another major challenge will be the recruitment of national and international funding, in particular against the background of the current financial situation in Europe and the shrinking support of research in many countries. Thus, much work remains to be done; but I´m convinced that our network is a promising tool to address many current problems in the field of IDs.

OrphaNews Europe: Who would you like to join this network? What characteristics are you looking for in organisations who want to join?
Dr. Thomas Eggerman: After our inventory stage, our EUCID.net network will be open to all organisations and groups working in the field of IDs, including clinics, diagnostics and counselling, research, industry and public. One major task within the next months is to collect all data on the current activities of our participants in the different countries. The next steps will include a survey of procedures in diagnostics and treatment of IDs through Europe and world-wide, with the aim of developing harmonised standard operating procedures and guidelines. We will therefore call all on groups and institutions working on IDs to visit our website (http://www.imprinting-disorders.eu) to get an overview on our Network, and become aware of our activities. Interested groups should contact either the participating national groups listed on our website or the EUCID.net network directly (info@imprinting-disorders.eu).


National & International Policy Developments
The pursuit of legislation for rare disease patients in China
In an article published in Muscle and Nerve, the authors describe the setting up of a rare disease center in China. The authors analyzed how patients with periodic paralysis accessed centers in China vs in the U.S. and U.K. In China, the authors evaluated 116 patients with periodic paralysis in Beijing and Hangzhou, for most of whom accessed the specialist centers despite the involvement of long travel without an appropriate appointment or a referral from a physician. The author contrasts this experience of rare disease patients in China with those in the US and the UK, who have a superior access to essential facilities. From the information received from the Chinese patients and knowledge from the centers in the US and UK, the authors propose that “rare disease centers in China require establishing a center for clinical characterization of the disease (e.g., periodic paralysis), establishing a genetic diagnostic platform, placing the center at a major city hospital and facilitating patient access through internet websites”.
However, the authors also highlight that learning from experiences at home as well as American and European legislation is helpful as changes as the Chinese Government has expressed interest in overhauling the medical system and introducing policy changes. According to the authors, the Chinese government have devised key policy targets which include ”universal basic healthcare coverage by 2020, establishment of a national essential drugs system with regulated prices and a high reimbursement rate, improved local medical care with family doctors and nurses acting as gate-keepers to reduce workloads in over-crowded city hospitals, improvement in basic public health services for screening and prevention and correction of the tendency for commercialization and improved management in public hospitals”. The authors believe that these reform measures will prove, not only to be extremely helpful for rare disease patients, but also ”a cost-effective direction for healthcare development in China”.
Another article published in Drug Discoveries & Therapeutics also examine the importance of rare disease legislation, especially for orphan drug development, in China. According to the authors, more than ten million people living in China currently suffer from a rare disease. They believe that shortage of effective drugs and the high cost of available drugs for the treatment of rare diseases, mainly due to the lack of legislative measures that provide incentives to develop orphan drugs as well as the absence of a drug reimbursement system for the steeply priced orphan drugs, are huge hurdles in China. The authors maintain that, at present obtaining imported drug licenses in China is a long and arduous process and the lack of governmental assistance is the reason no efforts towards the development of orphan drugs in the domestic pharmaceutical companies in China have been made. The authors also emphasise that “without strong support from the drug reimbursement system, most patients feel powerless and frustrated in obtaining effective but expensive treatments”.
However, similar to the article above, the authors expectat that legislation on rare diseases is underway in China as the National People's Congress (NPC) and Chinese People's Political Consultative Conference (CPPCC) of 2009, several NPC and CPPCC delegates have recently proposed that “legislation on rare diseases in China should be established as early as possible”. The authors also add that lessons could be learnt by following the example of Shanghai where treatment for twelve rare diseases are covered by the city medical insurance. In addition, drugs to treat four rare diseases which include Gaucher's disease, Fabry's disease, Mucopolysaccharidosis, and Pompe's disease, are covered by the mutual-aid funds for hospitalized children in Shanghai. Additional benefits of this policy include reimbursement for treatment costs upto 200,000 RMB per child, per school year.
Photo courtesy: Flickr, Let Ideas Compete
Consult the PubMed abstracts

Guidance Documents and Recommendations
Guideline on medicines for the treatment of amyotrophic lateral sclerosis released for a six-month public consultation
The European Medicines Agency has released a draft guideline on the clinical investigation of medicines for the treatment of amyotrophic lateral sclerosis (ALS) for a six-month public consultation. Comments should be made using the submission form and sent no later than 31 January 2014 to cnswpsecretariat@ema.europa.eu.

ALS, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Most therapeutic options for ALS target the symptoms of the disease. There are currently no medicines that slow or halt the progression of the disease. This guideline replaces the points to consider on clinical investigation of medicinal products for the treatment of ALS.
Consult the Guideline

Bioinformatics, Registries and Data Management
Inside TREAT-NMD Duchenne muscular dystrophy registries: past sucesses and future direction
TREAT-NMD - a worldwide network for neuromuscular diseases - has been a boon for many patients suffering from neuromuscular diseases as it has been instrumental in “provid(ing) an infrastructure to support the delivery of promising new therapies for patients”. Within TREAT_NMD is the registry for the rare disease Duchenne muscular dystrophy (DMD) which consists of information of more than 13,500 patients from 31 different countries. The information is in the form of standardised form of standardised patient registries from individual countries where clinical outcomes and new technologies can be assessed. An article published in Human Mutation describes how the TREAT-NMD national patient registries for DMD were established. They analysed the growth and accessibility of TREAT-NMD led to successful collaboration between academia, patient organisations and industry as well as a marked increase of clinical trial feasibility, which in turn has lead to the development of potential treatment strategies for DMD, one of them being the exon skipping treatment. Additionally, the authors believe that the registries provided means for the critical analysis of other treatment such as corticosteroids. According to the authors, “the establishment of harmonised national patient registries and ultimately a global patient registry for DMD has created a centralised access point for information (which) in turn has served to increase interest from TREAT-NMD industrial partners”.

Another upshot of the registries has been the improvements in patient care of which CARE-NMD is an example, as it has been instrumental in performing health care research as well as influence policy in many countries. The authors also maintain that the impact of the national registries will be further enhanced through the continued inclusion in the global DMD registry http://www.treat-nmd.eu/resources/patient-registries/overview/. The article also points to challenges that TREAT-NMD faces as currently not all of the national registries have transferred their data to the global registry. They also describe funding issues where some registries have had to make use of short-term funding while alternative sources of funding were identified.
Consult the PubMed abstract

Screening and Testing
Two articles discuss the importance and state of Non-Invasive Prenatal Testing in US
An article published in The Journal of Maternal-Fetal & Neonatal Medicine displays the application of the decision-analytic model to estimate “clinical and economic consequences of fetal trisomy 21 (T21) screening with non-invasive prenatal testing (NIPT) in high-risk pregnant women in US”,. This model, established by analysing 4 million pregnant women in the US, allowed them to “estimate the number of T21 cases detected, the number of invasive procedures performed, corresponding euploid fetal losses and total costs for three screening strategies: first trimester combined screening (FTS), integrated screening (INT) or NIPT, whereby NIPT was performed in high-risk patients”.
. The results showed that NIPT, at a base case price of US$795, was more clinically effective and less costly over both FTS and INT. According to the authors, NIPT (priced at UD$795) was the most clinically effective test compared to the other two and can detect more T21 cases in high risk women, reducing the need for invasive procedures which can be fatal for some foetus', in addition to being cost effective for the patients.

In a related commentary published in The New England Journal of Medicine concern over the popular and rapidly spreading cfDNA testing into routine prenatal care is expressed by the authors. They maintain that “professional societies do not recommend these tests for normal-risk pregnancies because their clinical utility in the general population is not well established”. The authors draw attention to the fact that laboratory-developed produced by companies tests are governed by Clinical Laboratory Improvement Amendments and not the Food and Drug Administration (FDA), due which the FDA is not authorised to demand evidence of clinical utility for marketing authorisation. Due to this, testing companies have independently pushed for consumers to use cfDNA testing, using aggressive marketing techniques. This “less onerous regulatory approach” by the US congress, according to the authors, has lead to the testing companies emphasising data that do not answer key questions.
The authors also believe that the minimal regulatory oversight has lead to these tests being available for routinely ahead of accurate evidence being available to consumers. They also bring to light the recent controversy of gratuitous use of direct-to-consumer genetic tests and “unsuccessful congressional attempts to strengthen oversight”. The authors ask the physicians to be extra vigilant and resist the pressure of rapid proliferation of cfDNA testing ahead of evidence being available.
Consult the PubMed abstracts


Ethical, Legal & Social Issues
Overcoming barriers for nutritional management for individuals with inborn errors of metabolism
In an article published in Molecular Genetics and Metabolism describes the need for research of nutritional interventions on the management of individuals with inborn errors of metabolism (IEM) across their life span. 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. The findings from the NDSI-IEM workshop, input from additional rare disease and metabolic disorders experts, and a review of the literature was used in the development of this paper.

The article provides the readers with a description of IEM, 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 highlight 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. In the article the authors also propose action steps which according to them, if implemented broadly, could transform biomedical research and how federal support for and approval of new nutritional interventions are obtained.
Consult the PubMed abstract

Are the recommendations by ACMG for incidental findings premature?
A special article published in Genetics in Medicine dispute the recent recommendations issued by The American College of Medical Genetics and Genomics for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The ACMG recommends reporting all pathogenic variants of a specific set of genes, which are associated with highly penetrant disorders with available treatment or prevention, as part of all whole-genome sequencing/whole-exome sequencing irrespective of patient age.

Although the authors find that this effort on the part of ACMG commendable, they express concern that the screening may constitute an “intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing”. They also express concern about the fact that for most of the genes, ”there is lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the authors maintain that the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. The authors also believe that the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Thus, according to the authors these are premature practice recommendations, and they call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence- based guidelines.
Consult the PubMed abstract

Rare Family days- an innovative workshop that reaches out to families with rare disease patients
Rare disorders Denmark is a national alliance representing people with rare diseases and disabilities in Denmark. They have introduced a custom made programme for rare disease families. The course is suited for families who need a specialist and experience-based knowledge. The course also helps families to meet others who are in a similar situation to them and share experiences and support.

The focus of the course is empowerment as they teach families a holistic approach towards combating rare diseases. The provide families with a greater awareness and understanding of their situation in order to enhance their coping strategies. The course offers theoretical, practical and experience-based knowledge. This course is provided over the weekend to families with children below 18 years who don’t have access to a relevant patient network.
For further information


New Syndromes

Identification of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability caused by mutations in TRAPPC11
In this study, the authors have identified recessive mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with limb girdle muscular dystrophy, and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability.
Consult the Pubmed abstract

To read more about "Limb-girdle muscular dystrophy"
To read more about "Autosomal recessive limb-girdle muscular dystrophy"

Am J Hum Genet. ; 93(1):181-90 ; July 2013
Description of a new immunodeficiency syndrome associated with mutations in VPS45 involving impaired neutrophil function and myelofibrosis in infants
The authors describe here a new immunodeficiency syndrome in infants manifesting by neutropenia, thrombasthenia, myelofibrosis, nephromegaly, and progressive bone marrow failure. This syndrome is associated with homozygous mutations in VPS45, which encodes a protein that regulates membrane trafficking through the endosomal system. Accelerated apoptosis in the patient’s neutrophils and bone marrow is observed.
Consult the Pubmed abstracts

N Engl J Med. ; 369(1):54-65 ; July 2013
Blood ; 121(25):5078-87 ; June 2013
Novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay
In this study, twelve cases from ten families presented a novel syndrome of congenital sideroblastic anemia with B-immunodeficiency, periodic fevers, and developmental delay. Median age of presentation was two months. Median survival was 48 months, with seven deaths caused by cardiac or multiorgan failure. One child underwent bone marrow transplantation aged 9 months, with apparent cure of the hematologic and immunologic manifestations.
Consult the Pubmed abstract

Blood ; 122(1):112-23 ; July 2013

New Genes

Familial hypocalciuric hypercalcemia type 2 and autosomal dominant hypocalcemia: mutations affecting G-protein subunit α11 (GNA11) identified
Consult the Pubmed abstracts
To read more about "Familial hypocalciuric hypercalcemia type 2"
To read more about "Familial hypocalciuric hypercalcemia"
To read more about "Autosomal dominant hypocalcemia"

N Engl J Med. ; 368(26):2532-4, 2476-86 ; June 2013
Idiopathic central precocious puberty is caused by heterozygous mutations in MKRN3
Consult the Pubmed abstract
To read more about "Idiopathic central precocious puberty"
To read more about "Central precocious puberty"

N Engl J Med. ; 368(26):2467-75 ; June 2013
Three studies show that SHORT syndrome is due to heterozygous PIK3R1 mutations
Consult the Pubmed abstracts
To read more about "SHORT syndrome"

Am J Hum Genet. ; 93(1):141-9, 150-7, 158-66 ; July 2013
Severe obesity associated with loss-of-function mutations in SIM1
Consult the Pubmed abstract
J Clin Invest. ; 123(7):3037-41 ; July 2013
Increased risk of multiple system atrophy associated with functionally impaired variants of COQ2
Consult the Pubmed abstract
To read more about "Multiple system atrophy"

N Engl J Med. ; 369(3):233-44 ; July 2013
Autosomal recessive congenital ichthyosis: first evidence of the essential role of CERS3 in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis
Consult the Pubmed abstract
To read more about "Autosomal recessive congenital ichthyosis"

PLoS Genet. ; 9(6):e1003536 ; June 2013
Acute promyelocytic leukemia: all-trans retinoic acid plus arsenic trioxide may be superior to all-trans retinoic acid plus chemotherapy for patients with low-to-intermediate risk
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Acute promyelocytic leukemia"

N Engl J Med. ; 369(2):111-21 ; July 2013
Langerhans cell histiocytosis: chemotherapy prolongation improves outcomes
Consult the Pubmed abstract
To read more about "Langerhans cell histiocytosis"

Blood ; 121(25):5006-14 ; June 2013

Research in Action

Clinical Research
Metachromatic leukodystrophy: benefits of lentiviral hematopoietic stem cell gene therapy in three presymptomatic patients
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Metachromatic leukodystrophy"
To read more about "Metachromatic leukodystrophy, late infantile form"

Science ; [Epub ahead of print] ; July 2013
Wiskott-Aldrich syndrome: benefits of lentiviral hematopoietic stem cell gene therapy in three patients
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Wiskott-Aldrich syndrome"

Science ; [Epub ahead of print] ; July 2013
Gene Therapy
Spinocerebellar ataxia type 3: lentiviral-mediated overexpression of beclin 1, an autophagy-related protein, mitigates motor and neuropathological deficits in genetic mouse models
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 3"

Brain ; 136(Pt 7):2173-88 ; July 2013
Acute intermittent porphyria: helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in a murine model
Consult the Pubmed abstract
To read more about "Acute intermittent porphyria"

Hum Mol Genet. ; 22(14):2929-40 ; July 2013
Therapeutic Approaches

Duchenne muscular dystrophy: treatment with antioxidants retards the onset of cardiac dysfunction and death in mdx/mTRKO mice
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Nat Cell Biol ; 10.1038/ncb2790 ; July 2013
Dystrophic epidermolysis bullosa: topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure
Consult the Pubmed abstract
To read more about "Severe generalized recessive dystrophic epidermolysis bullosa"
To read more about "Acral dystrophic epidermolysis bullosa"
To read more about "Centripetalis recessive dystrophic epidermolysis bullosa"
To read more about "Dystrophic epidermolysis bullosa pruriginosa"
To read more about "Pretibial dystrophic epidermolysis bullosa"
To read more about "Recessive dystrophic epidermolysis bullosa inversa"
To read more about "Recessive dystrophic epidermolysis bullosa-generalized other"

Mol Ther. ; 21(7):1335-44 ; July 2013
Diagnostic Approaches

Sarcoidosis: the use of endosonography (esophageal or endobronchial ultrasonography) compared with conventional bronchoscopy results in greater diagnostic yield
Consult the Pubmed abstract
To read more about "Sarcoidosis"

JAMA ; 309(23):2457-64 ; June 2013
Two Clinical Utility Gene Cards published in the European Journal of Human Genetic
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published two new Clinical Utility Gene Cards for:
Hereditary diffuse gastric cancer
Smith-Lemli-Opitz syndrome


Patient Management and Therapy
Rhabdoid tumors: review on what we have learned so far and future directions
Consult the Pubmed abstract
To read more about "Rhabdoid tumor"

Lancet Oncol. ; 14(8):e329-36 ; July 2013
Fragile X-associated tremor/ataxia syndrome: advances in clinical and molecular understanding
Consult the Pubmed abstract
To read more about "Fragile X-associated tremor/ataxia syndrome"

Lancet Neurol. ; 12(8):786-98 ; August 2013
Neural tube closure defect: recent advances, unsolved questions, and controversies
Consult the Pubmed abstract
To read more about "Neural tube closure defect"

Lancet Neurol. ; 12(8):799-810 ; August 2013
Primary amyloidosis: update for treating physicians
Consult the Pubmed abstract
To read more about "AL Amyloidosis"

Blood ; 121(26):5124-30 ; June 2013
Hermansky-Pudlak syndrome: health care throughout life
Consult the Pubmed abstract
To read more about "Hermansky-Pudlak syndrome"

Pediatrics ; 132(1):153-60 ; July 2013

Orphan Drugs
Regulatory News
19 positive opinions recommending orphan designation at the July 2013 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted four positive opinions issued at the July 2013 COMP meeting for the treatment of:

- chronic lymphocytic leukaemia / small lymphocytic lymphoma
- extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)
- nodal marginal zone lymphoma
- splenic marginal zone lymphoma
- osteosarcoma
- acromegaly
- autosomal dominant polycystic kidney disease
- acute myeloid leukaemia
- sickle cell disease
- Behçet’s disease
- eosinophilic oesophagitis
- pancreatic cancer
- mastocytosis
- neuromyelitis optica
- nontraumatic osteonecrosis
- Pseudomonas aeruginosa lung infection in cystic fibrosis
- growth hormone deficiency
- congenital sucrase-isomaltase deficiency
for the prevention of:
graft rejection following solid organ transplantation

Political and Scientific News
Report of the International Workshop on exon skipping treatment for Duchenne Muscular Dystrophy held in Netherlands
Twenty-seven participants from 9 countries attended the third ENMC workshop on exon skipping “Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy.” The topic of this workshop was on ‘Streamlining the development path of exon skipping compounds’. Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder that affects 1 in 5000 newborn males. The disease is caused by mutations in the dystrophin encoding DMD gene. In DMD patients mutations disrupt the open reading frame, leading to a prematurely truncated dystrophin protein that cannot fulfill its linker function.

In the absence of curative treatment, the exon skipping approach aims to convert the severe DMD into a milder BMD phenotype by modulating the pre-mRNA splicing of the dystrophin transcript. This can be achieved with antisense oligonucleotides (AONs). The workshop addressed the issue of mutation specificity for the AONs, the ongoing clinical trials and response to treatment as a result of the clinical trials. The workshop also described how outcome measures, especially for future trials that of necessity will have to be conducted in smaller groups of patients. The workshop also addressed future issues relating to finding novel treatments for DMD.
Consult the PubMed abstracts



DEBRA International research grants
The autumn 2013 call for applications for new research funding from DEBRA International is now open, with a submission deadline of 15 September 2013. DEBRA International welcomes proposals for co-funding with other organisations, including government, academia, industry or other charities. DEBRA will not, however, fund generic technology development costs not closely related to a specific EB therapeutic approach.
For Further Details

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


Partnersearch, Job Opportunities
Grantholder position, based in Ispra (Italy), for the establishment of the European Technological Platform on Rare Diseases
The JRC Institute for Health and Consumer Protection has 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

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

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
The 1st World Conference on Congenital Disorders of Glycosylation
Date: 1-2 September 2013
Venue: Barcelona, Spain

This conference is included in the ICIEM program and it is coordinated by the Portuguese association for Congenital Disorders of Glycosylation (CDG) and related Rare Metabolic Diseases (APCDG-DMR). The conference will bring together patients with their families and the healthcare professionals who study the scientific and medical aspects of Congenital Disorders of Glycosylation (CDG), a growing family of rare metabolic disease. For further details

International Summer School Rare Disease and Orphan Drug Registries
Date: 16-20 September 2013
Venue: Rome, Italy

Application Deadline: 30 July 2013 Further Information about this course can be found on the epirare website


What's on Where?

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

2nd International Symposium on Hypothalamic Hamartomas
Date: 20-21 September 2013
Venue: Marseille, France

This Symposium will provide a platform for collaboration and education and offer an opportunity to set a road-map for the next ten years of treatment and research for the treatment of hypothalamic hamartomas.
For further details

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

Organised by Finnish Rare Diseases Alliance (HARSO)
For further details go to http://www.harsofinland.net

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

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

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: 27-28 September 2013
Venue: Krakow, Poland

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

2nd International Expert Meeting on Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis
Date: 28-30 September 2013
Venue: Marseille, France

This conference aims to report results and observations on Congenital Melanocytic Nevi and Neurocutaneous Melanocytic and paediatric melanoma as well as report to the medical and scientific community on the availability and development of patient-managed research resources. The conference also aims to incorporate various patient groups into a newly formed international federation.
For further details

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

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 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

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

Application Deadline: 31 July 2013 Further Information about this course can be on the epirare website 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

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 byMinistry of Health

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

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

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


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

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

For further details

16th International Conference on Behçet's Disease
Date: 18-20 September 2014
Venue: Paris, France

the Conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Update on new therapeutic strategies will be presented and challenging issues will be discussed. We have planned to invite distinguished lecturers notably in the field of innate immunity.
For further details

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


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

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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