23 May 2012 print
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Editorial
 
National rare disease plans: Slovenia adopts a strategy, while the Netherlands move forward its development process, and a UK proposal opens for comments
 
In Slovenia, a national plan for rare diseases was officially adopted in early 2012. The Work Plan for Rare Diseases in Slovenia, which is designed to serve as a roadmap until 2020, is qualified as “… an opportunity for better coordination of efforts of all partners involved, establishing health care that will be comprehensive, accessible, timely and patient-focused”. The major objectives of the plan centre around the Identification and monitoring of rare diseases; Improving early diagnosis and access to appropriate medical treatments; Mechanisms to improve an integrated approach to rare diseases; and Improving access to information for patients, the general public, and professionals. Amongst identified actions include the establishment of a national registry for rare diseases; establishment of national reference centers integrated with international networks; examining cross-border cooperation for genetic testing and other services; introducing a system of evidence-based clinical guidelines; defining orphan drug policy and developing decision guidelines for competent authorities; identifying additional funding sources for orphan drugs; establishing an umbrella organisation of patient groups; and establishing a national centre for rare diseases in the country. The next identified steps include the development of an action plan for the implementation of the measures and identifying funds.
Consult the plan (in Slovenian)

The Nationaal Plan Zeldzame Ziekten (NPZZ) is a new website (available in Dutch language) developed as an initiative of the Dutch Steering Committee on Orphan Drugs. The goal of the NPZZ website is to collect input from various stakeholders in order to build a Dutch National Plan for Rare Diseases. The website is open to all individuals and/or organisations who wish to have a say in the Netherlands’ rare disease strategy. The Dutch national plan will consist of four main chapters comprising information, care, research and knowledge (education), and therapy. Each of these four central topics will have their own space on the NPZZ website. The same inquiries are made for each of the topics: What resources/structures already exist? What is (still) missing? What should be done to improve the situation? Who is responsible for proposed actions and under what terms? For all aspects of the plan, three cross cutting issues have been distinguished: the patient's voice, the centres of expertise, and awareness.

The NPZZ website makes publicly available all preparatory documents for the National Plan along with other relevant documents and anyone who wishes to can leave a comment on the website. Thus, the building of a national plan for rare diseases is to be a transparent process. The NPZZ website is coordinated by the Netherlands Organisation for Health Research and Development (ZonMw), which has been commissioned by the Ministry of Health, Welfare and Sport to coordinate the input on this website in 2012, following up on the initial work of the Dutch Steering Committee on Orphan Drugs. In November-December 2011 four multidisciplinary expert groups investigated the first two questions for each of the rare disease plan chapters. In January-March 2012, stakeholders started collecting possible solutions for the issues raised and discussing these on the website and in a public hearing. In April 2012, the first concept of the Dutch National Plan as a whole was developed on the basis of the input on the website, from meetings and from the four experts groups. It is scheduled to be presented at a meeting in mid-June. In the autumn of 2012, the focus will be on implementation issues and exploration of the feasibility of the proposed actions in the national plan with appropriate stakeholders. Suggestions for integrating the three interrelated issues (the patient's voice, centres of expertise and awareness) will be addressed in this phase, together with financial aspects and sustainability. The goal is to deliver the final plan by the end of 2012. Stakeholders (especially the patients) will play a crucial role to keep the plan on the agenda and to work on the implementation.
Visit the NPZZ website

Meanwhile, in the UK, response to the Consultation for a Rare Disease Plan, including an Editorial article in the BMJ, seems to indicate that the proposed strategy leaves out several key elements and that some of what is suggested may not be feasible. Criticisms include the absence of a concrete proposal for funding as well as a lack of emphasis on research. The BMJ article finds fault with the assignment of responsibility for commissioning (to provide networks of care for rare disease patients) to the National Health Service. Geographically, the scheme set out in the consultation would be difficult to engineer. At the present time, nationally commissioned services only extend to 60 rare diseases. The authors of the BMJ article suggest that a strategy developed by the Renal Association for rare kidney disorders could be more readily implemented. It calls upon expert groups of clinicians, researchers and patients to work on specific diseases or groups of diseases. The UK Consultation for a Rare Disease Plan is open for comments until 25 May.
View the UK Consultation for a Rare Disease Plan

 


 
Spotlight on...
 
Treat-NMD: a model of excellence
 
Interview
 
Building sustainability into a project plan for post-funding continuity
 

Treat-NMD launched as an EU-funded Network of Excellence composed of 21 partner organisations throughout 11 European countries working to accelerate treatments for neuromuscular diseases (NMD), the majority of which are rare disorders. The Network has been exemplary in both its international reach and in the quality and number of its “deliverables”. Launched in January 2007, the five-year EU funding period recently ended for the Network. OrphaNews Europe asked Treat-NMD Coordinators Pr. Kate Bushby (Professor of Neuromuscular Genetics, Newcastle University UK), Pr. Volker Straub (Professor of Neuromuscular Genetics, Newcastle University) and Dr. Stephen Lynn (Treat-NMD Network Manager) to describe their experience over the past five years as well as their vision for the future.


OrphaNews Europe: What were the primary missions of Treat-NMD and how well has the Network met them?

Treat-NMD: Back in 2006, when the concept of TREAT-NMD was finalised in our application to the EC for funding, the primary mission was to ‘address the fragmentation currently hindering translational research for cutting edge therapies in rare neuromuscular diseases’. At this time the bottlenecks were well understood and so TREAT-NMD established a road map to move these new therapies from the laboratory to the clinic, from the assessment of cellular and animal models, through issues of delivery, production and toxicology, to clinical outcome measures. These activities were underpinned by the integration and establishment of pan-European patient databases and biobanks. Today, TREAT-NMD, through the work of its funded institutes and organisations, along with its many European and worldwide collaborators, has changed the way translational research in the neuromuscular field is carried out. TREAT-NMD has established its global patient registries and been involved in many significant initiatives, such as the development of consensus in standards of care for diseases such as Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), for example. TREAT-NMD continues to help deliver this and other collaborative initiatives for other neuromuscular diseases, and it is this collaborative environment that TREAT-NMD has fostered that has lead to leaps being made across the field.

OrphaNews Europe: What do you consider to be the major accomplishments of Treat-NMD?

Treat-NMD: TREAT-NMD has provided a platform for many major accomplishments over the last five years and the major successes lie in the tools and resources it has developed to help the field establish a level of readiness for clinical trials. The TREAT-NMD patient registries, advisory committee for therapeutics, the network of biobanks integrated within EuroBioBank, and the standard operating procedures for assessing animal models are all important resources for researchers, while our work on standards of care, outcome measures and interactions with the regulatory authorities are assisting with current clinical trials. Communicating and disseminating these resources to the wider neuromuscular field has been at the heart of TREAT-NMD, and will continue to be for the benefit of patients worldwide.

OrphaNews Europe: What roles did patient organisations and members of the biopharmaceutical industry have in the Network?

Treat-NMD: TREAT-NMD, as an EU-funded network of excellence, included ‘partners’, who were responsible for delivering on the wide-ranging aims and objectives of the network, and these partners included patient organisations, such as AFM (l’Association Française contre les Myopathies) and European umbrella organisation for rare diseases Eurordis, as well as industry, such as Santhera Pharmaceuticals Ltd. These organisations played major roles in the Network through their expertise, commitment and perspectives that helped to deliver on a number of the tools and resources developed by the Network. In addition to these organisations in the EU-funded Network, TREAT-NMD has worked with many other patient and industry organisations, not only in Europe, but across the world, in creating strong collaborations with TREAT-NMD and providing help and support for ongoing clinical studies.

OrphaNews Europe: Can you comment on collaborating on an international scale? What were some of the inherent challenges you faced and how did the Network go about meeting them?

Treat-NMD: Through its tools and resources, TREAT-NMD has developed to become a platform for the entire neuromuscular field. Communication and collaboration has been key to this platform and we have been able to have a real impact on the way in which stakeholders interact and prepare the field for clinical trials. The challenges were to address the inherent fragmentation that was evident in the field prior to TREAT-NMD. The EU, as well as many European patient advocacy groups, such as Eurordis, AFM, and the German Muscular Dystrophy Network, recognised this challenge and by helping the field to collaborate better, both through disseminating existing best practice and to work together more effectively, the result was to identify areas that needed development and to put in solutions to facilitate progress.

OrphaNews Europe: What did the Network do to prepare for post EU-funding?

Treat-NMD: One of the core objectives of TREAT-NMD from the very beginning was to establish a durable entity that would coordinate activities long after the end of the EU funding. Therefore, defining this sustainability strategy has been an ongoing priority for the Network. During the project we discussed the future of the Network with supporters and stakeholders, which culminated in a wide-ranging public consultation held in 2010. The consultation was an opportunity for the Network to receive feedback from the neuromuscular community on where they see the future priorities for TREAT-NMD and this helped us to define a business plan to achieve the ongoing sustainability of the core activities and resources. This future initiative is called the TREAT-NMD Alliance, and both academics and patient organisations have supported the implementation of the Alliance, which has a 12-member Executive Committee that is overseeing the development of the Alliance and its ongoing activities. Obviously, funding for any future activities is central to the success of any initiative and through the Alliance, members are working hard to secure funding for core activities, which includes applications to the EU (FP7, Public Health Programme), and to private and public organisations at a national level.

OrphaNews Europe: How is the transition period going since EU funding has ceased for the Network?

Treat-NMD: The transition phase has been helped by the establishment of the TREAT-NMD Alliance Executive Committee. This committee is supported by a secretariat that is provided through the original coordination office funded by the original EU grant. Together, we are developing the framework to support the ongoing future collaboration, communication and coordination of activities, as well as supporting the work in order to secure ongoing funding for these activities. This is still an ongoing development, but with the commitment of the field there is a real desire to see the work of the original Network continued because of the benefits it has already brought to patients worldwide.

OrphaNews Europe: What does the future hold in store for Treat-NMD?

Treat-NMD: The future for the TREAT-NMD Alliance revolves around the commitment of the neuromuscular field and its various stakeholders and the belief that together we can bring real benefit and change for patients worldwide. However, realistically this, like any other initiative, is also dependent on funding to bring together and coordinate the delivery of these benefits to the field. Without funding, then the glue that brings everyone together is gone – but we are confident, and committed, that the field working together can secure this ‘glue’ and so focus on the goals and aspirations of the entire field.

OrphaNews Europe: What advice would you give to other European-level rare disease projects and/or Networks of Excellence to help them achieve their missions and to sustain their activities after EU funding ends?

Treat-NMD: Sustainability only comes if there is an unmet need. However, this unmet need requires not only the support of future funders, but the recognition that any organisation or network has the credentials to deliver on this need for the benefit of all stakeholders. Our advice would be to focus on those activities that are seen as being the main priorities and to be flexible in their approach to supporting the needs and requirements of the field. Listening to and involving stakeholders at each step of the way is paramount if you want to ensure the ongoing commitment to future activities. Learn more about Treat-NMD

TREAT-NMD partners and advisory committee members, Geneva, November 2011

 


 
EU Policy News
 
The European Commission’s new Health in Europe: Information and Data Interface (HEIDI) tool includes a section for rare diseases
 

Heidi (Health in Europe: Information and Data Interface) is a recently developed internet-based wiki tool specifically designed for European health information and data. Emerging from two former EC Public Health Programme projects (the Eugloreh report and EUPhix) Heidi offers articles and data on health status, diseases, determinants, health systems and policies, trends, institutional and policy aspects, and more. There is a special section for rare diseases available via the Contents tab. Data can be accessed by employing either search or browse functions. The information contained in Heidi, presented in the form of texts, tables, graphs, charts, and maps, is provided by various health professionals. Experts are called upon to contribute their expertise by becoming editors for Heidi. It is hoped that this new information tool can help develop evidence-based policies to improve the health of Europeans.
Visit Heidi

 
EMA
 
Reflection paper on the classification of advanced therapies open for public consultation
 
The European Medicines Agency (EMA) has released a reflection paper on the classification of advanced-therapy medicines for public consultation. The paper clarifies the legal basis for the classification of medicines as advanced therapies and provides information on how these medicines are classified as gene therapy, somatic-cell therapy, tissue-engineered or combined medicines. The paper additionally discusses the information required for application for classification. Within the EMA, the Committee for Advanced Therapies is responsible for issuing opinions on whether a medicine should be classified as an advanced therapy. The reflection paper is open for comments until 31 July 2012.
Learn more

 


 
National & International Policy Developments
 
Rare diseases added to China’s charity aid system
 
According to a news article on China.org, a government portal published under the auspices of the State Council Information Office and the China International Publishing Group, rare diseases will qualify for benefits under the country’s charity aid scheme. The Ministry of Civil Affairs in China will include rare diseases eligible for benefits beginning this year. Many of China’s local medical institutions lack diagnostic and treatment resources for rare disease patients and the country has not yet established an official definition for rare diseases or determined the numbers of people affected.
Consult the news article

 
Ireland revamps its policy regarding newborn screening card storage
 
Ireland has launched an information campaign on the topic of Newborn Bloodspot Screening Cards. Ireland screens newborns for six conditions, all of which are rare. All cards from 1984 onwards have been archived, but the Office of the Data Protection Commissioner, following a review in 2009, indicated that newborn screening cards currently stored without explicit consent should be disposed. The Department of Health reviewed the issue further in 2011 and asked the Health Service Executive (HSE) to implement this position, indicating that continued storage of archived newborn screening cards “… breaches both EU and national data protection legislation”. The HSE has indicated that any parents, individuals or clinicians who wish to access their archived newborn screening cards prior to disposal may do so. Cards could be donated to medical research, should parents choose. Some experts lament the destruction of the cards, stating that they constitute a resource for both research and informational purposes. In July 2011, modifications to the programme were introduced nationwide, including the launch of an enhanced information and consent process for all parents and guardians. Pending consent, newly produced cards will be stored as part of the baby’s health record for ten years by the National Newborn Bloodspot Screening Laboratory, after which they will be disposed.
Learn more

 
Other European news
 
CIBERER co-publishes guide to help rare disease patient organisations navigate media relations
 
The Centre for Biomedical Network Research on Rare Diseases (CIBERER) together with the ECCO group at the Almeria University and the GIDYC group at the University CEU Cardenal Herrera (Valencia) has co-published a guide for patient organisations in order to help them establish satisfactory relations with the media and journalists. The brochure contains ten recommendations explaining how the media function, the type of information that interest the media, and how this information should be produced, among other topics. The document is sponsored by the Spanish Foundation for Science and Technology (FECYT), and is available in Spanish language on the CIBERER website.
 
A new patient report weighs the benefits and risks of new medicines for serious and rare diseases
 
A project supported by Genetic Alliance UK, a national charity of 154 patient organisations supporting all those affected by genetic conditions, and facilitated by the Welsh Institute for Health and Social Care, examines the benefit/risk ratio of new medicinal products for rare and serious diseases. The report exposes the findings determined by a Citizen’s Jury composed of twelve rare and/or serious genetic disease patients or family members, who explored certain key questions: How do patients with rare and/or serious conditions perceive the risks and benefits of new medicines? To what extent should regulators be more permissive in their marketing authorisation decisions? How should patients be involved in the assessment of risks and benefits, and regulatory decision making? After exploring hypothetical case studies and hearing from expert and advocate witnesses on the existing regulatory system and its various strengths and weaknesses, followed by a period of reflection and debate, the jury was able to establish four key recommendations: Regulators should include psychosocial factors in their decision making; Regulators should be more permissive for people with rare and/or serious conditions; Patients should be more involved from setting the research agenda, to post-marketing authorisation decisions; and Patients should be supported in their decision making.
Learn more

 
Born Healthy Needs Assessment toolkit for congenital disorders adds six new disorders
 
As was reported in the 28 March 2012 issue of OrphaNews Europe, Born Healthy, a community portal developed by the UK-based Foundation for Human Genomics and Population Health (PHG Foundation) in response to the need for developing countries to focus on reducing and treating birth defects in their populations, has developed a freely available Health Needs Assessment Toolkit for gathering knowledge on birth defects and the measures that can prevent or treat them. Six new topics have now been added: Congenital Heart Disease; Congenital Hypothyroidism; Sickle cell disease; Thalassemias; Rhesus Haemolytic disease; and Glucose-6-phosphate dehydrogenase deficiency. Other topics to be added later this year include fetal alcohol spectrum disorder; teratogens; congenital rubella; and congenital syphilis. Topics published earlier in the year include Down syndrome; Neural tube defects; Orofacial clefts; Health services; Preconception care and screening; Prenatal services; and Newborn screening.
Learn more

 
Other International News
 
Very first Biochemistry and Molecular Genetics meeting held in Algeria
 
The first meeting on Biochemistry and Molecular Genetics, organised by the Faculty of Medicine (University of Algiers I) in coordination with the Laboratory of Biochemistry and Molecular Genetics, took place in Algiers recently. Meeting participants evoked the lack of early diagnosis for rare diseases, resulting in large part from consanguineous marriages. The need to improve diagnostics and increase drug availability was discussed. Speakers emphasised supporting scientific research through the establishment of national programmes, promoting lifelong learning and knowledge sharing, and strengthening relationships between medical specialists and policy makers for patients. They also highlighted the importance of establishing a national strategy to support people with unidentified rare diseases. According to national statistics, an estimated 3% of newborns suffer from rare conditions in Algeria, a country of some 37 million people. Of the 7000-8000 rare diseases identified to date, there are some 1000 with a higher prevalence in the country. A call was made for a greater effort to identify and treat patients via networks of trained physicians throughout the country.
 
Rare diseases in Colombia’s indigenous ethnic populations: ethical and economic considerations
 
A Brief Report appearing in the Journal of Medical Ethics considers the situation of rare diseases in Colombia’s indigenous ethnic populations. Taking the high-cost disease mucopolysaccharidosis VI (MPS VI) as an example, the authors examine various ethical and economic points of care for rare disease patients amongst minority groups in developing countries. Geographical and cultural marginalisation coupled with a lack of financial resources can make access to diagnostics and treatment for rare diseases particularly challenging for indigenous populations, which, due to their isolation and consequent consanguinity, can have higher rates of autosomal recessive disorders. In Colombia, the authors have identified 27 cases of MPS VI, caused by a lack of arylsulfatase B and resulting in incomplete degradation and cellular accumulation of glycosaminoglycans, leading to cell injury, severe disability and premature death. Of these, 10 cases are in indigenous groups. The estimated prevalence is thus 1 in 1 700 000 for the general population and 1 in 140 000 for the country’s indigenous population. Approved treatment for MPS VI (galsufase) is estimated to cost between €150 000 and €450 000 per year. Interestingly, the authors assert that evidence of MPS-like disease has been found in clay figurines dating back to prehistoric times. An added complication arises from the role of traditional healers in indigenous groups, who can be openly opposed to orthodox medical intervention. The authors identify the prohibitively high cost of treatment, geographic demands required for obtaining regular treatment, cultural attitudes toward conventional medicine and administration, and delayed diagnoses amongst the particular and complex challenges for MPS VI patients in these populations. It is suggested that genetic counselling and screening in high-risk populations could reduce the burden of MPS VI and other inherited disorders. The Colombian Ministry of Health is considering introducing tandem mass spectrometry to screen newborns for metabolic disorders.
Consult the open-access article

 
Second annual World PI Week for primary immunodeficiencies focuses on access to treatment
 

Celebrating its second annual awareness campaign on 22-29 April with a focus on access to appropriate treatment, the World PI Week organisation sought to raise more awareness for Primary Immunodeficiencies, a group of rare genetic diseases that often elude diagnosis. In a press release, Prof Ricardo Sorensen, founding partner of World PI Week, stressed that “awareness will increase prompt diagnosis and better access to appropriate treatment of children and adults whose past prognoses were very poor" .
Learn more

 
Guidance Documents and Recommendations
 
Measures delineated for improving evaluation and access to rare lung disease therapies
 
A review article in Respiratory Medicine considers the Perspectives for Improving the Evaluation and Access of Therapies for Rare Lung Diseases in Europe . While randomised, double-blind, placebo-controlled clinical trials are considered the gold standard for evaluating drug therapies, rare diseases, with their limited numbers of patients, prohibit recruiting an adequate sample size for such trials. Thus the approach to treating a rare disease study means adapting clinical trial designs. The authors explain that rare lung disease studies can be complicated further by clinical phenotype variation. To address these issues and to improve the process of bringing new therapies to market for this group of diseases, the authors identify several actions, many of which could be applicable to any group of rare diseases: Greater collaboration and communication at all levels, including all stakeholders (patient groups, physicians, drug developers, regulators, payers); Integration across countries and continents; New clinical trial protocols and agreement on appropriate outcome measures; Better organization of patients in Europe to improve patient empowerment and raise more interest in rare lung diseases; Raise European funding to support initiatives, such as regular workshops; society-sponsored course/workshops dedicated to rare lung diseases that includes patient advocacy groups; Use the limited number of patients wisely - learn from the model of the Rare Lung Diseases Consortium in the United States; Set up an expert group of respiratory physicians within the EMA; Create and strengthen European task forces on rare diseases aimed at writing consensus documents.
Consult the PubMed abstract

 
Amyotrophic lateral sclerosis: a revised version of the guidelines on the clinical management of the European Federation of neurological societies
 
Read the PubMed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Eur J Neurol ; 360-375 ; March 2012
 
Bioinformatics, Registries and Data Management
 
UK biobank opens its data to researchers
 
The massive health data resource UK Biobank recruited 500,000 people aged between 40-69 years from 2006-2010 from across the United Kingdom to undergo various measures, providing blood, urine and saliva samples for future analysis, as well as detailed information about themselves. Now, the databank is opening its resources to researchers. Scientists from the UK and from overseas, hailing from academia, industry, charity, or government-funded projects, will be able to use data after confirmation that research is health-related and in the public interest. Information provided to researchers will be anonymised. Applications to use the resource can be made online.
Learn more

 
Is the time ripe for a Human Phenotype Project?
 
A series of open-access articles appearing in a special issue of Human Mutation consider the gathering and storing of phenotypic data. Presenting an overview of several bioinformatic resources for phenotypic data, as well as existing computational solutions for existing challenges in deep phenotyping, the special issue explores the general question of whether, given the computational advances over the past decade and progress made in the effort to standardise semantics and technology, the time is now ripe for a “human phenome project”, that could be similar to the Human Variome Project for genetics or the ten-year-old Mouse Phenome Project.
Consult the table of contents and access the articles

 
Implementing an integrated system for the analysis and prediction of drug-disease associations for rare diseases with unidentified molecular bases
 
The authors of an open-access online proceeding from the Pacific Symposium on Biocomputing (2012) describe the process of establishing an integrated system for the analysis and prediction of drug-disease associations for rare and orphan diseases for which the molecular basis is not known using the PhenomeNET network of phenotypic similarity to suggest genotype-disease association and combining with the drug-gene associations available from the PharmGKB database.
Consult the PubMed abstract
Consult the open-access text

 


 
Ethical, Legal & Social Issues
 

 
Genetic testing legislation updated in the Czech Republic reflecting the Oviedo Convention Additional Protocol on genetic testing
 
A new genetic testing law came into effect in the Czech Republic on 1 April 2012. Act 373/2011 Sb regulates genetic testing for rare diseases and reflects the Council of Europe’s Additional Protocol to the Convention on Human Rights and Biomedicine concerning Genetic Testing for Health Purposes (CETS No 203) which regulates Direct to Consumer (DTC) testing via specific informed consent provisions. Policies toward DTC testing vary across the European Union. Some Member States have banned the practice completely while in other countries it goes largely unregulated. Within the Council of Europe Treaty Series, the Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine: Convention on Human Rights and Biomedicine (often referred to as the Oviedo Convention), signed by most of the European Member States, sets out the fundamental principles applicable in day-to-day medicine as well as those applicable to new technologies in human biology and medicine. The additional protocol to the Convention, concerning genetic testing for health purposes, was adopted by the Committee of Ministers in May 2008 and needs five ratifications, including four from Member States to enter into force.
Learn more about CETS No 203
Learn more about the Oviedo Convention

 
Patient-driven research: a growing phenomenon in the field of rare diseases
 
An article appearing in Drug Discovery Today late last year affirms the perceived growing trend of rare disease patient groups taking an active – and expert – role in clinical research. Acting out of need, patients and family members affected by rare diseases frequently develop a body of knowledge concerning their disorder. This knowledge is playing a more and more active role in the evaluation and validation of new therapeutic modalities via partnerships with academia and the biopharmaceutical industry.
Consult the PubMed abstract

A recent article in Nature Reviews: Genetics picks up a related theme, exploring the “participant-centric initiatives in biomedical research”. The authors focus on the role of social media technologies as a means for initiating “long-term interactive partnerships” between patients and researchers and as “tools … that empower participants to engage in the research process”. The article explores the potential benefits and risks of this new trend.
Consult the PubMed abstract

 


 
New Syndromes
 

 
Homozygous AFG3L2 mutations found in a spastic ataxia-neuropathy syndrome expanding the spectrum of m-AAA proteases associated neuropathies
 
The authors report two brothers of a consanguineous family presenting with early onset spastic ataxia-neuropathy syndrome characterized by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. The authors identified a homozygous missense mutation in AFG3L2 that encodes a subunit of mitochondrial matrix proteases (m-AAA proteases). Other AFG3L2 mutations are linked with spinocerebellar ataxia type 28 (SCA28) whose phenotype is different from that of these two brothers. In addition, paraplegin, encoded by SPG7 and mutated in hereditary spastic paraplegia type 7, requires AFG3L2 for function. Therefore this new syndrome expands the phenotype associated with AFG3L2 mutations as well as the differential diagnosis of spastic ataxias.
Read the PubMed abstract

 
PLoS Genet ; e1002325 ; October 2011
 
An inherited disorder with splenomegaly, cytopenias, and vision loss
 
Three patients, a mother and two daughters, half-sisters, suffering from idiopathic massive splenomegaly, cytopenias, anhidrosis, chronic optic nerve edema, and vision loss are described. Numerous investigations did not lead to diagnosis.
Read the PubMed abstract

 
Am J Med Genet A. ; 475-481 ; March 2012
 
Three cases with terminal 20p deletion presenting with a similar phenotype
 
Similar clinical signs are observed in three different cases, reported by two groups of authors. All three patients exhibit intellectual deficiency, epilepsy, facial dysmorphia including ear abnormalities, and delayed closure of the fontanella. All carry a terminal 20p deletion suggesting that this chromosomal anomaly is associated with this phenotype and that the genes located in this deletion may be involved in cranial ossification and ear development. This deletion is different from the one encompassing JAG1 and causing Alagille syndrome.
Read the PubMed abstracts

 
Am J Med Genet A. ; 1000-1007 ; April 2010
Eur J Med Genet ; 150-155 ; February 2012
 


 
New Genes
 

 
Normosmic congenital hypogonadotropic hypogonadism: inactivating mutation in KISS1 induces failure of pubertal progression
 
Read the PubMed abstract
 
To read more about "Normosmic congenital hypogonadotropic hypogonadism"

 
N Engl J Med ; 629-635 ; 16 February 2012
 
Seckel and Jawad syndromes: CtIP mutations are at cause, hampering ATR signalling and revealing a new form of genetic mechanism in the former
 
Read the PubMed abstract
 
To read more about "Seckel syndrome"

 
PLoS Genet ; e1002310 ; October 2011
 
Familial isolated dilated cardiomyopathy: DOLK mutations reduce O-mannosylation of alpha-dystroglycan via abnormal N-glycosylation
 
Read the PubMed abstract
 
To read more about "Familial isolated dilated cardiomyopathy"

 
PLoS Genet ; e1002427 ; December 2011
 
Lissencephaly: de novo missense mutations in DYNC1H1 cause severe intellectual disability associated with variable neuronal migration defects
 
Read the PubMed abstract
 
To read more about "Lissencephaly"

 
J Med Genet ; 179-183 ; March 2012
 
Fanconi anemias: a novel group defined by XRCC2 mutations
 
Read the PubMed abstract
 
To read more about "Fanconi anemia"

 
Med Genet ; 184-186 ; March 2012
 
Coenzyme Q10 deficiency can be associated with haploinsufficiency of COQ4
 
Read the PubMed abstract
 
To read more about "Coenzyme Q 10 deficiency"

 
J Med Genet ; 187-191 ; March 2012
 
Joubert syndrome and related disorders: mutations resulting in ciliary anomalies found in CEP41 and TMEM138
 
Read the PubMed abstract
 
To read more about "Joubert syndrome and related disorders"

 
Science ; 966-969 ; 24 February 2012
Nat Genet ; 193-199 ; February 2012
 
Autosomal recessive congenital ichthyosis: PNPLA1 mutations found in dogs and humans involve the epidermal lipid barrier formation
 
Read the PubMed abstract
 
To read more about "Autosomal recessive congenital ichthyosis"

 
Nat Genet ; 140-147 ; February 2012
 
Hereditary diffuse leukoencephalopathy with spheroids: CSF1R mutations establish the disease as a member of microgliopathies
 
Read the PubMed abstract
 
Nat Genet ; 200-205 ; February 2012
 
Perlman syndrome and nephroblastoma susceptibility: mutations in DIS3L2 identified
 
Read the PubMed abstract
 
To read more about "Perlman syndrome"
To read more about "Nephroblastoma"

 
Nat Genet ; 277-284 ; March 2012
 
Bilateral striopallidodentate calcinosis: mutations in SLC20A2 identify altered phosphate homeostasis as a primary pathophysiological mechanism
 
Read the PubMed abstract
 
To read more about "Bilateral striopallidodentate calcinosis"

 
Nat Genet ; 254-256 ; March 2012
 
CANDLE syndrome is caused by mutations in proteasome subunit PSMB8 suggesting interferon may be a therapeutic target
 
Read the PubMed abstract
 
Arthritis Rheum ; 895-907 ; March 2012
 
Congenital short bowel: loss-of-function mutations of CLMP likely interfere with tight-junction formation and disrupt intestinal development
 
Read the PubMed abstract
 
To read more about "Congenital short bowel"

 
Gastroenterology ; 453-462 ; March 2012
 
Rare primary hyperaldosteronism: mutations in the potassium channel KCNJ5 induce various phenotypes and clinical outcomes
 
Read the PubMed abstract
 
To read more about "Rare primary hyperaldosteronism"

 
PNAS ; 2533-2538 ; 14 February 2012
 
Autosomal recessive epidermolysis bullosa simplex: loss of BPAG1-e expression impairs hemidesmosome integrity in basal keratinocytes
 
Read the PubMed abstract
 
To read more about "Autosomal recessive epidermolysis bullosa simplex"

 
J Invest Dermatol ; 742-744 ; March 2012
 
46,XY disorder of sex development: WWOX involved in gonad development
 
Read the PubMed abstract
 
To read more about "46,XY disorder of sex development"

 
Eur J Hum Genet ; 348-351 ; March 2012
 
Idiopathic and/or familial pulmonary arterial hypertension is associated with BMPR1B mutations
 
Read the PubMed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

 
Circ J. ; 25 February 2012
 
Persistent pulmonary hypertension of the newborn: mutations found in corticotrophin-releasing hormone receptor 1 (CRHR1)
 
Read the PubMed abstract
 
Pediatr Res ; 162-167 ; February 2012
 
Coats disease like with cerebroretinal microangiopathy, calcifications and cysts: mutations found in CTC1 involved in DNA maintenance
 
Read the PubMed abstract
 
Am J Hum Genet ; 540-549 ; March 2012
Nat Genet ; 338-342 ; March 2012

 


 
Research in Action
 

 
Fundamental Research
 
Primary ciliary dyskinesia: IV mouse model recreates the physiological phenotype of immotile respiratory cilia through a Dnahc11 mutation
 
Read the PubMed abstract
 
To read more about "Primary ciliary dyskinesia"

 
Hum Mutat ; 495-503 ; March 2012
 
Pemphigus vulgaris: an adult passive transfer mouse model to study the involvement of desmoglein 3 antibody-mediated signaling in skin
 
Read the PubMed abstract
 
To read more about "Pemphigus vulgaris"

 
J Invest Dermatol ; 346-355 ; February 2012
 
Epidermolysis bullosa simplex, Ogna type: key features in a mouse model of impaired hemidesmosome formation due to proteolytic cleavage of plectin 1a
 
Read the PubMed abstract
 
To read more about "Epidermolysis bullosa simplex, Ogna type"

 
PLoS Genet ; e1002396 ; December 2011
 
Central diabetes insipidus: specific role for liver X receptor β in controlling water balance in both the brain and kidney demonstrated in mice
 
Read the PubMed abstract
 
To read more about "Central diabetes insipidus"

 
PNAS ; 3030-3034 ; 21 February 2012
 
Clinical Research
 
Graft versus host disease: UVB irradiation post transplant is safe and improves outcome in allogeneic hematopoietic cells recipients
 
Read the PubMed abstract
 
To read more about "Graft versus host disease"

 
J Invest Dermatol ; 179-187 ; January 2012
 
Epilepsy with myoclonic-astatic seizures: potential therapeutic effect of rufinamide on seizures but with some loss of efficacy in the long-term
 
Read the PubMed abstract
 
To read more about "Epilepsy with myoclonic-astatic seizures"

 
Eur J Paediatr Neurol ; 20 January 2012
 
Facioscapulohumeral dystrophy: healthy carriers and affected compound heterozygotes question genetic counseling and prenatal diagnosis
 
Read the PubMed abstract
 
To read more about "Facioscapulohumeral dystrophy"

 
J Med Genet ; 171-178 ; March 2012
 
Myelofibrosis with myeloid metaplasia: continuous oral ruxolitinib therapy can reduce splenomegaly and improve quality of life and survival of patients
 
Read the PubMed abstracts
 
To read more about "Myelofibrosis with myeloid metaplasia"

 
N Engl J Med ; 787-798;799-807 ; 1 March 2012
 
TRAPS syndrome: etanercept reduces symptoms and serum levels of inflammatory markers, but long-term adherence to etanercept is poor
 
Read the PubMed abstract
 
To read more about "TRAPS syndrome"

 
Arthritis Rheum ; 908-913 ; March 2012
 
Friedreich ataxia: erythropoietin has no significant hematological, clinical, or biochemical effects
 
Read the PubMed abstract
 
To read more about "Friedreich ataxia"

 
Mov Disord ; 446-449 ; March 2012
 
Poikiloderma: neutropenia must be searched in poikiloderma patients in order to avoid diagnostic errors
 
Read the PubMed abstract
 
To read more about "Poikiloderma with neutropenia"

 
Eur J Med Genet ; 8-11 ; January 2012
 
Sickle cell anemia: blood rheodynamics proposed as a biophysical indicator of vaso-occlusive risk
 
Read the PubMed abstract
 
To read more about "Sickle cell anemia"

 
Sci Transl Med ; 123ra26 ; 29 February 2012
 
Amyloidosis: a reliable typing through proteomic analysis of subcutaneous adipose tissue
 
Read the PubMed abstract
 
To read more about "Amyloidosis"

 
Blood ; 1844-1847 ; 23 February 2012
 
Gastrointestinal stromal tumor: risk-stratification schemes might reduce risk of overtreatment for patients who can be cured by surgery alone
 
Read the PubMed abstract
 
To read more about "Gastrointestinal stromal tumor"

 
Lancet Oncol ; 265-274 ; March 2012
 
Frontotemporal dementia with motor neuron disease: mental disorders observed in amyotrophic lateral sclerosis patients with C9orf72 mutation
 
Read the PubMed abstract
 
To read more about "Frontotemporal dementia with motor neuron disease"

 
Lancet Neurol ; 232-240 ; March 2012
 
Children with global developmental delay or intellectual deficiency: an overview of the diagnostic yield of genetic and metabolic testing
 
Read the PubMed abstract
 
Neurology ; 1629-1635 ; 25 October 2011
 
Stem Cells
 

 
Sickle cell anemia: in situ genetic correction of the responsible mutation in human induced pluripotent stem cells using engineered zinc finger nucleases
 
Read the PubMed abstract
 
To read more about "Sickle cell anemia"

 
Stem Cells ; 1717-1726 ; November 2011
 
Krabbe disease: intravenous delivery of bone marrow-derived mesenchymal stromal cells diminishes neuropathology in a mouse model
 
Read the PubMed abstract
 
To read more about "Krabbe disease"

 
Stem Cells ; 1738-1751 ; November 2011
 
Proximal spinal muscular atrophy type 1: ectopic SMN expression in induced pluripotent stem cells restores motoneuron differentiation
 
Read the PubMed abstract
 
To read more about "Proximal spinal muscular atrophy type 1"

 
Stem Cells ; 2090-2093 ; December 2011
 
Therapeutic Approaches
 
Huntington disease: intraventricular infusion of ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor function in mice
 
Read the PubMed abstract
 
To read more about "Huntington disease"

 
PNAS ; 3528-3533 ; 28 February 2012
 
Friedreich ataxia: delivering a TAT-frataxin fusion protein in mitochondrion increases lifespan and improves cardiac function in mouse
 
Read the PubMed abstract
 
To read more about "Friedreich ataxia"

 
Hum Mol Genet ; 1230-1247 ; 15 March 2012
 
Mucopolysaccharidosis type 6: intrathecal injection of recombinant human N-acetylgalactosamine-4-sulfatase reduces GAG accumulation in the dura of model cats
 
Read the PubMed abstract
 
To read more about "Mucopolysaccharidosis type 6"

 
Pediatr Res ; 39-45 ; January 2012
 
Williams syndrome: reduction of NADPH-oxidase activity improves the cardiovascular phenotype in a mouse model
 
Read the PubMed abstract
 
To read more about "Williams syndrome"

 
PLoS Genet ; e1002458 ; February 2012
 
Diagnostic Approaches
 

 
Duchenne and Becker muscular dystrophy: a platform providing complete characterization of DMD transcripts and accurate molecular diagnosis
 
Read the PubMed abstract
 
To read more about "Duchenne and Becker muscular dystrophy"

 
Hum Mutat ; 572-581 ; March 2012
 
Lynch syndrome: a cell-free assay to test the MMR activity in forms associated with variants of uncertain significance
 
Read the PubMed abstract
 
To read more about "Hereditary nonpolyposis colon cancer"

 
Hum Mutat ; 488-494 ; March 2012
 


 
Patient Management and Therapy
 

 
A review of autosomal recessive cerebellar ataxia
 
Read the PubMed abstract
 
To read more about "Autosomal recessive cerebellar ataxia"

 
N Engl J Med ; 636-646 ; 16 February 2012
 
Fabry disease: implementation of a prognostic index of severity
 
Read the PubMed abstract
 
To read more about "Fabry disease"

 
J Med Genet ; 212-220 ; March 2012
 
Pediatric systemic lupus erythematosus: consensus treatment plans for induction therapy of newly diagnosed proliferative lupus nephritis
 
Read the PubMed abstract
 
To read more about "Pediatric systemic lupus erythematosus"

 
Arthritis Care Res ; 375-383 ; March 2012
 


 
Orphan Drugs
 

 
Regulatory News
 
Eight positive opinions recommending orphan designation adopted at the April COMP meeting
 

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted eight positive opinions recommending orphan designation at the April 2012 COMP meeting for the treatment of:

- glioma
- meningioma
- schwannoma
- ovarian cancer
- Wiskott-Aldrich syndrome
- adrenoleukodystrophy
- cytomegalovirus disease in patients with impaired cell mediated immunity
- pancreatic cancer

Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

 
Three recent rare disease drug approvals from the FDA
 
The U.S. Food and Drug Administration (FDA) has approved Elelyso (taliglucerase alfa) manufactured by Pfizer, Inc for long-term enzyme replacement therapy to treat type 1 Gaucher disease. The FDA also recently approved Afinitor (everolimus), the first drug approved specifically to treat non-cancerous kidney tumors (renal angiomyolipomas) not requiring immediate surgery in patients with tuberous sclerosis complex. Afinitor is manufactured by Novartis. Another recent FDA approval is GlaxoSmithKline’s Votrient (pazopanib) for patients with advanced soft tissue sarcoma who have previously received chemotherapy.

 
Political and Scientific News
 
Guidelines for orphan drug development in academia and start-ups
 
Early Drug Discovery and Development Guidelines: For Academic Researchers, Collaborators, and Start-up Companies is an online document that discusses ways to successfully establish discovery and development programmes for new (including orphan) drugs in academic, non-profit and start-up business settings. As a chapter of the Assay Guidance Manual, the guideline “serves to assist academic investigators in advancing new therapies from the discovery phase into early drug development, including evaluation of therapies in human and/or clinical proof of concept. It outlines necessary steps required to identify and properly validate drug targets, define the utility of employing probes in the early discovery phase, medicinal chemistry, lead optimization, and preclinical proof of concept strategies, as well as address drug delivery needs through preclinical proof of concept. Once a development candidate has been identified, the guideline provides an overview of human and/or clinical proof of concept enabling studies required by regulatory agencies prior to initiation of clinical trials”. A special section discusses orphan drug designation. The guideline is available via the NCBI Bookshelf.
Learn more

 
Ethical guidelines for the fair distribution of resources for rare diseases
 
A new article in the Journal of Medical Ethics examines the “rightful place” of orphan drugs in resource allocation systems and calls for the fair distribution of such resources. The authors put forward an ethical framework designed to guide policy makers responsible for resource allocation for rare disease prevention, diagnostics and treatment.
Consult the PubMed abstract

 


 
Partnersearch, Job Opportunities
 
Group leader positions available at the French Imagine Institute for rare genetic diseases
 
The Imagine Institute of Genetic Diseases, based in Paris, France, is inviting applications for group leader positions. Imagine is an interdisciplinary research center with core facilities for genomics, cell imaging, flow cytometry, bioinformatics, pathophysiolgy and animal housing for transgenic mice and zebra fish. Imagine is affiliated with Paris Descartes University, the INSERM national institute for medical research and the Paris Public Hospitals Group (Assistance Publique-Hôpitaux de Paris). The Institute focuses on rare diseases, their genetic architecture and life-long outcomes. Imagine intends to address unmet basic and clinical research questions related to rare diseases, in order to increase knowledge in a major medical field that is currently insufficiently covered. The Institute is currently composed of 250 staff members from 23 labs in the fields of immunology, infectious diseases, haematology, nephrology, developmental defects, metabolic diseases/encephalopathy, dermatology and gastroenterology. Applications can focus on any field related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on development, stem cells, computational biology and neuroscience. Appointments will be made at a junior or senior level, depending on experience. The deadline application is 14 September 2012.
Learn more

 
EUCERD Joint Action: working on bringing rare disease policy into action
 
Two positions are available immediately at Newcastle University with Professor Kate Bushby in the Institute of Genetic Medicine to support the EUCERD Joint Action (www.eucerd.eu), the aim of which is to work in partnership with EU member states and the European Commission to improve delivery of care to patients suffering from rare diseases.

Senior Research Associate (Starting salary range £37,012 to £39,257). Full time position on a 3 year fixed term contract. This person will play a key role in the team coordinating the EUCERD Joint Action for Rare Diseases (EJA) and will lead on helping to accelerate implementation of the EU’s activities and recommendations in the rare disease field, and to foster exchange of relevant experience, policies and practices between the Member States and other stakeholders. This will be an exciting opportunity to actively engage with a wide range of groups across the rare disease field. The postholder will work with existing groups such as Orphanet to manage the development and dissemination of information, guidelines and policies across the Member States especially as it relates to the future development of European Reference Networks. As an experienced policy maker, this post will also provide policy support to the EJA Coordinator and other members of the Joint Action. A PhD or other postgraduate qualification in a relevant subject area and experience working with policy makers, experience of health-related issues pertaining to rare diseases and have an understanding of European Health issues would be required. Excellent organisation skills are essential as is high quality written and spoken communication. Candidates must be flexible and willing to travel internationally.

Clinical Research Associate (Starting salary range £27,798 - £46,708). Full time position on a 3 year fixed term contract. This is an exciting opportunity for a clinical doctor to work in developing an interest in and policies for rare diseases, ultimately to deliver better care outcomes for this traditionally neglected patient group. The successful applicant for this post will be part of the international co-ordination team for this project and will have the opportunity to work clinically within a group internationally renowned for delivery of co-ordinated care for a group of rare diseases (inherited neuromuscular conditions). The main duties of the post will involve communication with the different EU member states via the EU Committee of Experts in Rare Diseases (EUCERD) and the various EU networks on rare diseases. The successful candidate will have a medical degree with training in clinical genetics, neurology or paediatric neurology with a special interest in rare disease diagnosis and management.
All posts are full-time and tenable for 36 months. Informal enquires should be directed to either Kate Bushby or Stephen Lynn


 


 
Courses & Educational Initiatives
 

 
The European School of Genetic Medicine celebrates its 25th anniversary with special courses
 
The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open. All ESGM courses can be followed live on the Internet through webcasting.
For further details

 
OroDysmorphology Course
 
The first OroDysmorphology course is being held on 24 May 2012 within the context of the 11th Congress of the European Academy of Paediatric Dentistry. Taking place in Strasbourg, France, this pre-congress course will gather European and world experts in the field of syndrome diagnosis and dysmorphology focusing on the oral cavity. The paediatric dentist can contribute to the dysmorphology approach and analysis of a patient/family affected by a syndrome or a rare disease by analysing carefully dental/orofacial malformations, liaising and interacting with the genetic and other health professionals team managing the patient. This hands-on course will allow participants to present and discuss their own cases in front of the expert panel and to benefit from brainstorming and collegial expertise in syndrome and orodental anomalies diagnosis. Therapeutic management of selected cases will be also discussed.
For further details

 
Summer School for Clinical Practice Guidelines on Rare Diseases
 
This course, consisting of brief presentations followed by individual or small group exercises, will take the participants through the development process for clinical practice guidelines, covering the following topics: Identify key clinical issues to be included (scope); Developing review questions using PICO and PIPOH and planning the systematic review; Identifying the evidence: formulating, executing and documenting a search strategy; Assessing quality of relevant studies, summarize and interpreting the body of evidence to make recommendations; Lack of evidence on guidelines development: formal consensus (Delphi-like method); Appraisal of synthesis documents: guidelines and systematic reviews; and more. The course, offered by the Italian National Centre for Rare Diseases, will be of benefit for guideline developers and health care professionals interested in learning how to use evidence in practice.
Learn more

 
Epidermolysis Bullosa – An Introduction and Advanced Management courses
 
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

 
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
 
The Sixth Clinical Cytogenetics course will be held from 15-21 September 2012 at the Goldrain Castle in South Tyrol (Italy). The lectures are aimed at both clinicians and cytogeneticists who have strong mutual interests in both fields. To best profit from the lectures and exercises, participants should have at least one year of practical experience in laboratory and/or clinical cytogenetics.
The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2012, is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination.
For further details

 
Master of Science in Haemoglobinopathy
 
A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
For further details

 
The European School of Haematology distance learning tools
 
The European School of Haematology (ESH) is a non-profit organisation founded in 1986. Its mission is continuous medical education in Haematology and the fields related to Haematology. ESH organises conferences throughout Europe and on other continents. It also produces distance learning tools of which many are freely available on the ESH website: These include: The Curriculum on Iron Metabolism and Related Disorders: This is a comprehensive curriculum comprising webcasted lectures, videos, interviews, round table discussions etc. The faculty is composed of distinguished international experts in the field. Webcasted conferences are also freely available on the website, including topics such as: Diagnosis and Management of Rare Anaemias; Haemoglobin Disorders: Laboratory Diagnosis and Clinical Management; World Cord Blood Congress, and more.
 
Orphan Academy 2012 Programme
 
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

 
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
 
The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
For further details

 


 
What's on Where?
 

 
12th International Conference on Myasthenia Gravis and Related Disorders
 
Date: 21-23 May 2012
Venue: NY, USA

The Myasthenia Gravis Foundation of America and the New York Academy of Sciences present this 12th international conference to galvanize efforts among researchers studying autoimmune and neuromuscular junction disease and to encourage continued progress in the diagnosis and treatment of MG that will help to improve patient outcomes and quality of life. This 3-day international conference will feature topics that span basic, translational, and clinical neuroscience and immunology related to MG and other autoimmune and neuromuscular junction disorders.
For further details

 
6th European Conference on Rare Diseases & Orphan Products
 
Date: 23-25 May 2012
Venue: Brussels, Belgium

The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian.
For further details

 
Symposium on Neurocognitive Developmental Disorders
 
Date: 25 May 2012
Venue: Rotterdam, Netherlands

This symposium on rare neurodevelopmental disorders related to the mTOR pathway is organised in collaboration with ENCORE (Center for Hereditary Neurocognitive Developmental Rotterdam Erasmus MC) and Novartis Oncology.
For further details

 
5th International Conference on Ectodermal Dysplasia (ED2012)
 
Date: 1-3 June 2012
Venue: Erlanger, Germany

The ectodermal dysplasias are a large, heterogeneous group of hereditary disorders characterized by defective formation of tissues derived from embryonic ectoderm. ED2012 will provide a forum for multidisciplinary discussions on treatment paradigms as well as innovative approaches to improving the lives of patients with ectodermal dysplasia.
For further details

 
2nd Annual Orphan Drug Congress 2012
 
Date: 7-8 June 2012
Venue: Barcelona, Spain

Key topics for this commercial event include: Successful development plan for Orphan Drugs; Regulatory challenges surrounding Orphan drug development; Developing patient registries; Commercial aspects of orphan drug development; and the patient perspective.
For further details

 
1st European Conference on Aniridia
 
Date: 8-10 June 2012
Venue: Oslo, Norway

The Norwegian Association of Aniridia is hosting the first international, medical conference on the rare eye disease Aniridia. International experts within the fields of ophthalmology, genetics and paediatrics will present their latest findings.
For further details

 
10th International Primary Hyperoxaluria Workshop
 
Date: 22-23 June 2012
Venue: Bonn, Germany

A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hyperoxaluria.
For further details

 
7th World Rett Syndrome Congress
 
Date: 22-26 June 2012
Venue: Paris, France

This global meeting, orchestrated by leading Rett syndrome scientists, clinicians, educators, and family representatives, consists of four distinct meetings over the course of four days. All professionals including researchers, clinicians, allied health practitioners, educators, parents, family members and caregivers will benefit from the meaningful series of sessions and tracks.
For further details

 
European Human Genetics Conference 2012
 
Date: 23-26 June 2012
Venue: Nurnberg, Germany

A rich programme awaits participants. Symposia include: The molecular basis of facial malformations; Mechanisms and consequences of chromosomal/genetic mosaicism; Primary microcephaly; and much more. Educational sessions include Next-generation sequencing diagnostics; Trinucleotid repeat disorders and more. Plenary sessions include: Targeted pharmacological therapies in genetic disorders (with presentations on Marfan, tuberous sclerosis complex and fragile X); and more.
For further details

 
11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
 
Date: 26-29 June 2012
Venue: Rotterdam, Netherlands

Featuring the session Rare Diseases and Orphan Drugs: ethical aspects. Key themes include: Public health ethics; Clinical ethics; Biobanks; Ethics and research and much more.
For further details

 
European Working Group on Gaucher Disease Meeting
 
Date: 28-30 June 2012
Venue: Paris, France

The quality of the scientific content at the EWGGD meetings attracts an increasing number of participants with each edition. Participants are recognized experts in their fields, committed to both clinical and basic science in Gaucher disease. New results from basic science, clinical trials and registries will be announced during the meeting. Updated guidelines for the management of Gaucher disease will be released, taking into account the experience of different teams in various countries. A practical session and workshop, dedicated to nurses and paramedics with the objective of better integrating their crucial role in patient management through medical education, based on new practices such as home therapy, will be held.
For further details

 
World Federation of Hemophilia World Congress
 
Date: 8-12 July 2012
Venue: Paris, France

The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
For further details

 
Retina International World Congress
 
Date: 14-15 July 2012
Venue: Hamburg, Germany

This congress, held every two years, includes: the latest information on diagnostics, therapy and disease management in diseases such as retinitis pigmentosa, AMD, Usher syndrome, Bardet-Biedl syndrome, Stargardt’s disease, Cone-rod dystrophy, and more; the latest in international research, and much more.
For further details

 
3rd Annual Orphan Drug Summit
 
Date: 25-26 July 2012
Venue: London, UK

This commercial event will bring together industry leaders from pharma/biotech companies, patient advocacy groups, government, regulators, investors and insurance companies, to share approaches, challenges and successes in orphan drug development.
For further details

 
7th European Elastin Meeting
 
Date: 1-4 September 2012
Venue: Ghent, Belgium

Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
For further details

 
13th International Workshop on Multiple Endocrine Neoplasia
 
Date: 5-8 September 2012
Venue: Liege, Belgium

An established event for all those interested in research and treatment of multiple endocrine neoplasias, this workshop represents the ideal opportunity to share knowledge with peers and those working in related fields. Both research techniques and therapeutic modalities have undergone significant expansion in recent years and the program provides an opportunity for all to inform and be informed about thought-provoking advances in treatment, genetics and molecular biology. Deadline for abstract submission: 30 June 2012
For further details

 
The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
 
Date: 6-8 September 2012
Venue: Shanghai, China

Scientific sessions include: Beyond GWAS; Impact of 1,000 Genomes Project; Genome variation in complex diseases; Rare variations in neuropsychiatric and developmental disorders; New technologies; Challenges and Opportunities of large datasets; Therapeutic Targets Emerging from Genetic Variants in Common Networks; and much more.
For further details

 
First International Symposium on the Ehlers-Danlos Syndrome
 
Date: 8-11 September 2012
Venue: Ghent, Belgium

Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
For further details

 
15th Biennual Meeting of the European Society for Immunodeficiencies
 
Date: 3-6 October 2012
Venue: Florence, Italy

The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects.
For further details

 
Mechanisms of Intellectual Disability: From Genes to Treatment
 
Date: 3-7 October 2012
Venue: Roscoff, France

The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID ; and Towards a cure: lessons from animal models.
For further details

 
EpiRare International Workshop: Rare Disease and Orphan Drug Registries
 
Date: 8-9 October 2012
Venue: Rome, Italy

The International Workshop “Rare Diseases and Orphan Drug Registries” is organised in the framework of the EpiRare project (“European Platform for Rare Disease Registries”, co-funded by EU Commission, DG SANCO). Open to scientists, clinicians, patient associations, policy makers and enterprises, the workshop aims to share different experiences of rare disease registration in Europe and beyond; highlight the strengths and opportunities of linking rare disease registration activities, orphan drug post-marketing surveillance, etc; promote the sustainability and networking of registration activities; and more. Deadline for abstract submission: 31 July 2012
For further details

 
Second International Conference on Esophageal Atresia: From the Fetus to the Adult
 
Date: 8-9 October 2012
Venue: Montreal, Canada

In addition to bringing together experts from various disciplines, the theme of the conference will create important links between paediatric and adult medicine, reflecting the need for a continuum of care, which this increasingly numerous population requires. Inherent morbidity related to this condition also underlines the need for long-term monitoring.
For further details

 
15th Society for the Study of Behavioural Phenotypes International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders
 
Date: 11-13 October 2012
Venue: Leuven, Belgium

The theme of this year's conference is "Social Phenotypes in Genetic Disorders" and the focus will be on the development, phenotype, genetics and brain basis of social cognitive skills, and on molecular targeted therapy in genetic syndromes. Deadline for abstract submission: 31 May 2012
For further details

 
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
 
Date: 25–26 October 2012
Venue: Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details

 
The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
 
Date: 26–27 October 2012
Venue: Ede, Netherlands

Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
For further details

 
International Ataxia Research Conference
 
Date: 1-3 November 2012
Venue: London, UK

Topics will include emerging therapeutic strategies for the ataxias; genetic and molecular analysis of the frataxin gene and protein; episodic ataxias and non-inherited ataxias; ataxia clinical research from trials to clinic – biomarkers and clinical trials; and more. .
For further details

 
8th International Society for Newborn Screening European Regional Meeting
 
Date: 4-6 November 2012
Venue: Budapest, Hungary

Topics will include: To screen or not to screen - setting up screening panels; Congenital adrenal hyperplasia; Cystic fibrosis; Severe combined immune deficiencies; Lysosomal storage disorders; and more. Deadline for abstract submission: July 2012 .
For further details

 
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
 
Date: 7-9 November 2012
Venue: Prague, Czech Republic

Topics will include Refractory Cytopenia of Childhood, advanced MDS; Juvenile Myelomonocytic Leukemia; Ph-negative Myeloproliferative Disorders; Therapy-related myeloid neoplasia; Severe Aplastic Anemia; Congenital Bone Marrow Failure; Morphology and Classification; Stem cell biology; Molecular aberrations and potential targets; Novel therapeutics, and Hematopoietic Stem Cell Transplantation.
For further details

 
10th Asia-Pacific Conference on Human Genetics
 
Date: 5-8 December 2012
Venue: Kuala Lumpur, Malaysia

The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities.
For further details

 
7th Alstrom Syndrome International Family Conference and Scientific Symposium
 
Date: 9-13 May 2013
Venue: Massachusetts, USA

Medical professionals and scientists will hold Symposia on Thursday, 9 May and Saturday 11 May.
For further details

 
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

 


 
Media, Press & Publications
 
Health Policy considers health care structures and services for rare diseases
 
Two interesting articles appearing in Health Policy under a special section dedicated to Health Care Structures and Services for Rare Diseases examine designing health care structures and services for rare diseases and the influence of network integration resource access and operational experience on research performance. Other interesting articles from this special section, which were reported in earlier issues of OrphaNews Europe include The influence of regional health care structures on delay in diagnosis of rare diseases: The case of Marfan Syndrome; Innovative work behavior in healthcare: The benefit of operational guidelines in the treatment of rare diseases; How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction; and Does healthcare infrastructure have an impact on delay in diagnosis and survival?
Consult the Health Policy table of contents

 


 
Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews Europe is supported by the European Commission's DG SANCO
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (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), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
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, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (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), Manfred Stuhrmann-Spangenberg (Germany), Helen Michelakakis (Greece), Sandor Janos (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (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), Desirée 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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