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The 2013 edition of the report on the State of the Art of Rare Disease Activities in Europe is now online, offering a wealth of information on EU and Member State initiatives

The annual report on the State of the Art of Rare Disease Activities in Europe is now available online. This extensive report, elaborated by the Scientific Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD) under the framework of the EJA (EUCERD Joint Action) and with the cooperation and input of all members of the EUCERD, provides a comprehensive overview of rare disease and orphan drug activities at both the European Union (EU) and Member State (MS) levels up to the end of 2012 - including the progress of EU Member States in meeting the Council Recommendation, notably in terms of developing a national plan/strategy for rare diseases.

The report is composed of six volumes, the first of which provides an overview of activities in the field in Europe and the last of which is made up of individual reports by country for easier dissemination of up-to-date information at national level concerning national activities For readers who have read previous years’ reports and are familiar with the activities in the field, a synthesis of all the activities taking place in 2012 is proposed in Part II, Key developments in the field of rare diseases in Europe in 2012.

Amongst the topics covered by the report at the MS and EU levels are : the development of centres of expertise; registries; genetic testing resources and activities; patient organisation activities; information resources; guidelines and recommendations; educational initiatives; research and funding mechanisms and participation in EU-level projects; rare disease conferences and events; orphan medicinal product incentives, availability, reimbursement and pricing policies; and specialised social services.

Each section of the report includes a bibliography of sources used, including a list of any European Commission documents referred to and a list of web addresses organised by country listing national sources of information on rare diseases and links to documents concerning national plans or strategies for rare diseases when appropriate. Many stakeholders at national level have contributed once again to the update of this valuable report : they are listed by country and with mention of the validating authority for each country.

All the volumes of the report, useful to stakeholders from all rare disease and orphan drug areas, are freely accessible via the EUCERD website.

Spotlight on...
The Spanish Rare Diseases Registries Research Network
The Spanish Rare Diseases Registries Research Network (SpainRDR) is a 2.4 million euros project financed by the Institute of Health Carlos III (ISCIIII) for the years Dec, 2011 to Dec, 2014. This project involves all Health Departments of the Autonomous Communities (regions) of Spain, the Institute of Rare DiseasesResearch (IIER) which acts as a coordinator and leader of the network, the Spanish Ministry of Health, the Spanish Centre of Reference of People and Families affected by RD (CREER), six Spanish Medical Societies,four research networks, pharmaceutical and biotechnological organizations (ASEBIO and FARMAINDUSTRIA), and the Spanish Federation of RD (FEDER) and its foundation (FEDER TELETHON FOUNDATION).
Interview of Dr Manuel Posada, coordinator of the Spanish Rare Diseases Registries Research Network (SpainRDR)
1. What is the main problem that you will tackle?
Dr. Manuel Posada: I am tackling Rare Diseases Registries as I am an epidemiologist with a extensive experience in registries. Registries are key instruments for developing RD centered clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, they serve as a recruitment tool for the launch of studies focusing on disease aetiology, pathogenesis, diagnosis or therapy. Registries are the best way of pooling data to achieve a sufficient sample size for epidemiological and/or clinical research.
For example, my colleagues and I have developed a large population-based registry with more than 20,000 people for the toxic oil syndrome. Each patient of this registry has been followed-up yearly for more than 30 years, and both major health risks and cause of death are registered.
In Spain, there is a need to share standard data in a comparable and useful way for local, regional and national level with the purpose of monitoring, updating and disseminating RD situation. The origin of that need is the existence of barriers in the use of health information.

2. What are the concrete solutions you have selected? What are the steps? At what stage are you today?
Dr Manuel Posada: SpainRDR aims to develop a national strategy in Spain to build the National Rare Diseases Registry: a tool to provide data for health-policy decision-making and clinical research. Currently, most information is locked in many different sources and is difficult to access, which makes it impossible to have a vision of the burden of rare diseases, to improve our knowledge about them and to plan services.
Our project aims to have a central platform providing access to this information. The data are expected to come from two types of sources. The first one is population-based registries already set up by the autonomous regions for epidemiological research and social-health planning. The second one is disease registries already set up by clinical or research groups for a specific disease or a group of diseases.The first strategy is managed by the Spanish regions and the second one by the rest of the partners. Patients can also register themselves, or be registered by their tutors, but this process only includes the registration of personal data and the name and coding of the disease. In that case, patients will receive their own user identification and password, allowing them to access the internal site (for example to read news about their disease) and determine if they want to participate in research, and how they want to participate.
Concretely, we are identifying precisely all these potential sources, negotiating with them which data to import, how to import the data and how to harmonize the data collection among the various regions. This is going to be a long process but we hope to have some pilot results in selected areas by the end of this contract.
So far, all methods have been developed and a pilot study is being conducted involving population-based methods. Regarding disease registries, we have signed an agreement with six medical societies, two researcher networks, two consortiums of pharmaceutical industries and also with FEDER. After these agreements several databases for RD have been developed and implemented in the central repository at the ISCIII. Some of them are starting to be active and cases are being registered by professionals.
Also, at the moment several disease registries are committed to work with SpainRDR in the area of Prader-Willi, sexual differentiation disorders, bradikinin-mediated angioedema, spinocerebellar ataxias, McArdle disease, congenital and rare anaemias, to cite only a few.
For the collaboration with autonomous regions, all of them have already agreed to collaborate, which is a good start, and 10 of them have sent preliminary data corresponding to 2010-2011 years.
The IT tools are developed by the department of informatics of the Institute Carlos III, based on the long experience of the institute in monitoring large cohorts.
Much work remains to be completed and we know that we will face major challenges, but there is such a need for these data that we will do everything possible to make information on rare diseases visible and useable.

3. What can the patients, the clinicians or other stakeholders expect at the end of the project?
Dr Manuel Posada: All stakeholders can expect data on the frequency of RD at national level, a specific follow-up with specific aims, including orphan drugs effectiveness of some RD. Industry will have information for their internal planning, as well as the national health system. On the other hand, patients can apply their own criteria for their own areas of interest.

4. How is SpainRDR contributing to reaching the goals of IRDiRC by 2020?
Dr Manuel Posada: SpainRDR is included in the framework of RD registries. As we participate to the IRDiRC WG on registries and natural history of diseases, and we collaborate with RD similar projects (such as EPIRARE and RD-CONNECT), we can provide our expertise in this field as well as data which could be integrated in a wider strategy. From the patient registries perspective, SpainRDR will provide information that could be useful for differentstudies, samples of its biobank and criteria for new research studies.

5. Where does this project position itself in this particular field at the international level?
Dr Manuel Posada: To my knowledge, SpainRDR is a challenging project because it will harmonize and join several areas of interest with the idea of providing integrated information. SpainRDR can be a pilot experience with its integrative methodology. It also may serve for other similar developments.


EU Policy News
Recommendations by The German Ethics Council and the Genetic Diagnostics Commission for the Future of Genetic Diagnosis
In April 2013, two policy opinion papers on the regulation of genetic services in Germany have been issued. These documents were prepared by the German Ethics Council and the Genetic Diagnostics Commission (GEKO). The paper released by the German Ethics Council is a compilation of an Opinion on the future of genetic diagnosis, focussing on the enhancement of information dissemination and counselling. They also provided recommendations on prenatal genetic diagnosis, informed consent, quality of genetic tests and reimbursement mechanisms. Topics of current interest such as direct-to-consumer testing and future debates on genetics were also examined. The German Ethics Council recommends establishing an information platform for available genetic tests, advocating the use of EuroGentest Clinical Utility Gene Cards in conjunction with the Orphanet directories as a basis for this platform.

The other document is the first report by GEKO, following the German gene diagnostics act (Gendiagnostikgesetz, GenDG) which was enacted on 31 July, 2009. This report describes the activity of GEKO through 2009 to 2012. They have provided an account of its proceedings and the progress in genetics since ratifying the law, focussing on the genome-wide screening technologies such as array-based molecular karyotyping and next-generation sequencing (NGS). Like the German ethics Council, GEKO has also emphasised in adequate information dissemination and informed consent. They also gauged ethical issues such as issuing “incidental findings”.
Learn more

The policy for public health genomics in Italy
A recent article in Health Policy describes the strategic plan on genomics and predictive medicine within the 2010–2012 National Prevention Plan by the Italian Ministry of Health. This plan is supported by the Italian Network for Public Health Genomics (GENISAP) and may lead to the “integration of public health genomics into health care in the country”. The 2010–2012 National Prevention Plan (NPP, published every 2 years) and the 2011–2013 Technical Document for the reduction of the burden of cancer diseases define the governmental plan for genomics based predictive medicine. The NPP, published collaboratively by Ministry of Health and Regions, has addressed the preventive actions within the public health system and implementation of the policy of public health genomics through dedicated projects in Italy.
Consult the PubMed abstract


Draft policy on the publication and access to clinical-trial data by EMA: open for public consultation
After the decision of the European Union General Court that barred the European Medicines Agency (EMA) to release data provided by Abbvie and Intermune (See previous issue for further details), the EMA is working towards drafting a policy on the publication and access to clinical trial data to clarify the process. To this end, the Agency has released a draft policy which is open for a three-month public consultation and are urging stakeholders to send their comments on the draft policy by 30 September 2013 to ctdatapolicy@ema.europa.eu. “In its draft policy, the Agency has divided three categories of clinical-trial data corresponding to different levels of access. Category 1:commercially confidential information; Category 2: open access; Category 3: controlled access”.

Although the Agency expects this policy to be effective from 1 January 2014, other aspects will determine its implementation such as, the pending court cases on access of clinical trial data and “the ongoing legislative process to replace the current European directive on clinical trials”, which currently follows the transparency directive to include public access to clinical trial data of a product after marketing authorisation is provided for that product.
Read the Draft Policy


National & International Policy Developments
UK Government moves another step forward to allow Mitochondrial Replacement
The U.K. government is moving toward permitting an in vitro fertilization procedure that would enable patients with mitochondrial diseases to avoid passing the condition onto their children. Mitochondrial mutations - passed from mother to child as they share mitochondrial DNA - can cause diseases which are debilitating often with no available treatment. The procedure in question involves transferring the nuclear DNA from the sperm and egg of the potential parents into a second egg, provided by a donor with healthy mitochondria, from which the nuclear DNA has been removed. Although controversial, this technique found ample support during public consultations. The technique is still under development and has not been tried in humans yet, but is considered to have enormous potential. The Department of Health announced that they will be drafting guidelines for fertility clinics to offer the procedure. The proposed guidelines are due to be released for public consultation later this year, and Parliament could vote on a final version next year. Learn more
Other European news
Barriers to chronic care evaluation in six European countries

A study published Health Policy enhances the current information “some of the most common barriers to chronic care evaluation in Europe”. The authors accomplish this by providing the reader with opinions of stakeholders and experts in six European countries based on their experiences. This paper builds on work conducted by the European DISMEVAL project (Developing and validating DISease Management EVALuation methods for European healthcare systems), which reviewed current approaches to chronic care and their evaluations in EU Member States. Semi-structured interviews were conducted with opinion leaders from Austria, Denmark, France, Germany, The Netherlands, and Spain who are “involved in the decision-making process as it relates to various aspects of chronic disease management in a given health system context”. The study identified and explored three barriers to evaluating healthcare for chronic diseases: “a lack of evaluation culture and related shortage of capacity; reluctance of payers or providers to engage in evaluation and practical challenges around data and the heterogeneity of IT infrastructure”. The authors believe that overcoming the cultural, political and structural barriers to evaluation should be driven by payers and providers, for example by building in incentives such as “feedback on performance, aligning financial incentives with programme objectives, collectively participating in designing an appropriate framework for evaluation, and making data use and accessibility consistent with data protection policies”. .
Consult the PubMed abstract

Dystrophic Epidermolysis Bullosa in Spain: the need for reference centers discussed in two papers
Epidermolysis bullosa (EB) is a group of inherited diseases in which the skin breaks and blisters following minor trauma and have been recently divided into 4 main groups: EB simplex (EBS),junctional EB, dystrophic EB (DEB), and Kindler syndrome. A study published in Actas Dermo-Sifiliográficas has determined the prevalence of DEB in Spain. The authors used data from population-based sources such as the dermatology departments of hospitals, diagnostic laboratories performing antigenic mapping and/or genetic testing, and the Spanish Association of Epidermolysis Bullosa Patients (DEBRA) to identify 152 DEB patients living in Spain. The report showed that the prevalence of DEB in Spain is 6.0 patients per million, a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The report also showed that many more problems associated with the DEB patients where “77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA”.

An opinion piece appearing in the same journal expresses concern over the lack of specialised centers for the DEB patients in Spain. The authors stress that DEB patients and their families suffer serious and daily consequences due to the “lack of knowledge and understanding of their condition within the health care system”. As seen in the study mentioned above, majority of DEB patients in Spain lack a genetic diagnosis and are not treated in a specialized setting. The authors prefer to have national reference centers “in the autonomous communities with larger populations, such as Andalusia, Madrid and Catalonia, and that these centers could also serve patients who live in smaller autonomous communities nearby”. They also recommend a shared center of reference for communities of Galicia, Cantabria, and Asturias in the northeast of Spain. They recommend that the reference centers be armed with specialists which include a dentist, gastroenterologist, ophthalmologist, nutritionist, and hand surgeon as an “essential core team”. The authors also recommend working with centers that have diagnostic expertise as well as the proficiency to be able to “be responsible for managing the patient’s transition from pediatric to adult care”.
Consult the PubMed abstracts

Europlan Conference in Romania: a summary

The Europlan conference in Bucharest, Romania on 24-25 May 2013 was held to facilitate an open dialogue between all stakeholders (patients, professionals, authorities, politicians, industry, media). This event was organised by ANBRaRo under the patronage of the Ministry of Health. The conference rendered support from the Ministry of Health of Romania, who are motivated to carry forth the National Plan for Rare Diseases in the near future. In addition, to updating the national plan for Romania, the conference also discussed establishing relevant procedures for assessing the Centers of Expertise as well as finalising the procedure for appointing the National Committee for Rare Diseases & working groups. The process of reimbursement of orphan drugs in Romania was also analysed and alternative strategies to facilitate access to orphan medication were examined. A push towards rare disease research and the identification of possible sources of funding were considered. In conclusion, the outlook for adoption of the long-awaited National Plan for Rare Diseases in Romania looks promising. For further details

Guidance Documents and Recommendations
New emergency guidelines and documents on Orphanet
Hemiplegic migraine
Autoimmune Myasthenia

Prader-Willi syndrome: consensus guidelines for recombinant human growth hormone therapy
Consult the Pubmed abstract
To read more about "Prader-Willi syndrome"

J Clin Endocrinol Metab. ; 98(6):E1072-87 ; June 2013
Bioinformatics, Registries and Data Management
Study identifies prevalence of hereditary hemorrhagic telangiectasia by using US health insurance data
The most convenient and widely employed method for surveillance of rare diseases is by utilising patient registries, which may be a limiting source at times. An innovative method of surveillance identified by the authors of an article published in Genetics in Medicine, was of studying employer-sponsored insurance in U.S. The authors searched the health insurance database for patients with characteristics for hereditary hemorrhagic telangiectasia (HHT, Orpha Number). The signs of this rare autosomal dominant blood vasculature disorder frequently can go undiagnosed leading to “premature death” as there are no established parameters for detecting this disease. This surveillance was conducted to better understanding the “frequency of the disorder and its complications by age, race/ethnicity, and geographic location” based on the symptoms provided in the insurance data according to ICD codes. From this data, the authors found that average prevalence of HHT was 0.3 per 10,000 and was age dependent with older populations (70 and older) being the most susceptible. Furthermore, the analysis of this data provided a battery of “frequently reported symptoms characteristic of HHT” along with distinguishing the signs and symptoms commonly grouped together for the presumed diagnosis of HHT. Apart from determining the prevalence of HHT, the authors believe that the biggest strength of this analysis is the identification of the signs and symptoms associated with the diagnosis of HHT which will help early diagnosis of future patients.
Consult the PubMed abstract

Screening and Testing
National Newborn Screening Programme for Congenital Hypothyroidism in Turkey
A National Newborn Screening Programme (NNSP) for congenital hypothyroidism assessment was finally performed in Turkey. Retrospective study based on the data from NNSP has been published in the Journal of Clinical Research in Pediatric Endocrinology
Consult the PubMed abstract

Niemann-Pick disease type C in adults underepresented: findings from the ZOOM study
Niemann-Pick disease type C (NP-C) is a rare inherited lysosomal storage disorder characterised by progressive decline in neurological functions and premature death with an “estimated incidence of 1:120,000 live births”. Despite increasing knowledge of the genetics and biochemistry of NP-C, convenient and easily applied diagnostic methods are lacking due to which the authors of an article published in Human Molcular Genetic believe that the current incidence numbers are likely to be an underestimation. The authors believe that NP-C is often “misdiagnosed or detected after considerable delay”. In this article, the results of the international genetic screening study, ZOOM is described. This observational, multicentre genetic screening study was conducted to evaluate the prevalence of NP-C and the frequency and phenotypes of NP-C in consecutive adult patients with neurological and psychiatric symptoms. The study showed that the frequency of NP-C patients in this study was much higher suggesting the existence of an “underdiagnosed pool of NP-C patients among adults who share common neurological and psychiatric symptoms”.
Consult the PubMed abstract


Ethical, Legal & Social Issues
Orphacol prevails at the European Union General Court

The European Union General Court has finally ruled in favour of authorising Orphacol (cholicacid) - a life saving orphan medicinal product (OMP) by Laboratoires CTRS - declaring that refusal to authorise this product by the European Commission (EC) was unlawful. This long-standing battle started when, despite receiving unanimous positive recommendations for the approval of Orphacol from the European Medicines Agency (EMA) to treat two extremely rare and serious liver conditions, this life saving OMP was refused authorisation by the EC. This refusal was on the grounds that the application was incomplete, lacking pre-clinical and clinical evidence.

However, the Court upheld that cholic acid capsules (used under the brand name Orphacol), have been previously used to treat patients in France between 1993 and October 2007 in the form of hospital preparations provided on medical prescription, prepared individually in accordance with the prescriptions of a pharmacopoeia and in compliance with the rules of good practice laid down in the national legislation. Therefore, the court said, the French pharmaceutical company Laboratoires CTRS was not obliged, to provide the results of pre-clinical tests or clinical trials required by EU law when applying for the marketing authorisation.

This ends a surprising story which started in 2009 when the Laboratoires CTRS requested a marketing authorization. The refusal by the European Commission, despite a positive opinion of the Committee of Human Medicinal Products of the European Medicine Agency, was the first in history and difficult to understand for a product used in medicine to treat children affected by deficits of the synthesis of biliary acids since 1993, in the French legal framework of temporary use authorization (ATU). These children have a life expectancy of a few months or a few years , depending on the type of deficits.
Read the Press Release by European Union General Court

Three million euros granted to unproven stem cell treatment by the Italian government

Public pressure has led the Italian government to award a whopping 3 million euros to David Vannoni, a psychologist turned medical entrepreneur, who is promising to cure fatal and rare illnesses with his unsubstantiated mesenchymal stem cell treatment. Stamina Foundation, headed by David Vannoni, has submitted a patent for a stem-cell therapy, which is described as deeply flawed by several scientists. Furthermore, a prominent science magazine- Nature - has uncovered that the images used in the patent application has been duplicated from another paper by a Ukrainian group (Read the patent). However, his assurance of curing rare and incurable diseases has allured the public who have led fervent protests to allow this fraudulent treatment to be carried out, notwithstanding the negative opinions of the Italian Drug Agency and Italian College of Health. Bowing to this public uproar, the Italian Ministry granted 3 million euros for clinical trials to Stamina Foundation. Scientists all over the world are stunned by this decision and are urging the government to pull out before significant harm is caused.

Eminent scientists from the University of Salerno, Italy, have published an opinion in EMBO reports addressing a particular case where the stem cells from Stamina Foundation were administered to a paediatric patient suffering from metachromatic leukodystrophy - a rare disease - even though safety and efficacy standards were not met. The authors stressed that many drugs have shown promise in the experimental phase but did not meet safety and efficacy standards and hence were not pursued. They stressed the importance of the procedure set in place to ensure that only the best possible treatments are provided to the patients. They have thus advised the Italian government against setting a dangerous precedent by providing funds to an uncorroborated and possibly unsafe treatment methodology. Additionally, they recommend enhancing an honest dialogue “between scientists and regulatory agencies, patients and society” as they believe that patients and families with rare diseases have a scary and lonely journey and may cling to any treatment opportunity that may guarantee a cure.
Read the article in Nature
Read the Opinion of Italian scientists in EMBO reports
Cartoon by Josh: Feb. 21, 2012

Online global patient network RareConnect.org continues to grow with new community for Lowe syndrome

RareConnect.org, the successful, growing online network for rare disease communities, brings together thousands of patients, families, and groups who might otherwise be isolated. RareConnect is a project of EURORDIS, the European Rare Disease Organisation and NORD the National Organization for Rare Disorders http://www.rarediseases.org/. Through RareConnect, patients and those who care for them can communicate, sharing experiences and information in a safe, moderated online forum. With human translation available at no cost to participants, RareConnect allows patients from different countries to interact in English, French, German, Italian or Spanish languages. Each of the rare disease-specific communities is supported by the full-time community managers who animate and promote the communities and support volunteer moderators from the member groups. Where available, disease articles from Orphanet are cited to draw patients to sources of quality information.

The newest member, RareConnect’s 41st community, for people caring for patients with Lowe syndrome, was created in collaboration with five patient groups. Lowe Syndrome is an X-linked recessive infant-onset multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. Visit the RareConnect Lowe syndrome community:
English: https://www.rareconnect.org/en/community/lowe-syndrome
French: https://www.rareconnect.org/fr/community/syndrome-de-lowe
German: https://www.rareconnect.org/de/community/lowe-syndrom
Italian: https://www.rareconnect.org/it/community/sindrome-di-lowe
Spanish: https://www.rareconnect.org/es/community/sindrome-de-lowe

Survey demonstrates the extensive usage of internet among Italian families of patients with rare disease
An article published in Orphanet Journal of Rare Diseases showed that the use of internet is widespread among Italian families with patients suffering from a rare disease. In this study, the authors collected data from 516 Italian parents of rare diseases using an online survey that assessed the influence of internet on health decisions. They found that these parents depended on the internet significantly to advise them on various aspects such as therapy, diagnosis and nutrition. It was also instrumental in helping them comprehend the disease as well as for making decisions on future pregnancies. The families used email, Facebook and online forums to counsel them and often found it useful, especially for discussions with their physicians. However, around half of these participants also felt an increased anxiety with the internet results. The authors believe that this active internet usage shows “information provided by the health care system through traditional channels is not sufficient (and) physicians, health care facilities and health agencies should take advantage of online interactions for empowering families of patients affected with rare diseases”.
Read the Open Access article

General population v/s doctors on allocation of funds for rare disease patients
An interesting social question is presented in an article published in Social Science and Medicine where the views of Norwegian doctors on prioritisation of treatment for rare disease patients were compared to the general population. By utilising a random sample survey method the respondents chose whether to prioritise treatment of patients with rare versus common diseases and then decided on how to allocate funds between the two groups. The results showed that the doctors displayed no general preference for prioritising treatment of rare diseases, but they favoured reserving a small share of funds for rare disease patients. However, when confronted with the idea of allocating funds for a more expensive rare disease, the doctors’ responses were significantly different from those of the general population. They were much less likely than the general population to divide funds equally between the groups, prioritising treatment for largest number of patients with common diseases rather than specific patients with rare diseases. The general population preferred equal or even higher allocation of funds among rare disease patients. Although preliminary, these results raise a possible ethical dilemma about whose values should be consulted in determining priorities in the health sector.
Read the abstract


New Syndromes

Identification of a novel syndrome of intellectual disability with microcephaly and growth retardation linked to de novo mutations in CTCF
In this study, the authors have identified de novo mutations in the genome organiser CTCF by trio exome sequencing and subsequent mutation screening in individuals with intellectual disability, microcephaly, and growth retardation. CTCF is one of the most important chromatin organisers in vertebrates. Haploinsufficiency of CTFC affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition.
Consult the Pubmed abstract

Am J Hum Genet. ; June 2013
Description of an unrecognised progeria syndrome with prominent cutaneous and cardiovascular manifestations associated to an LMNA heterozygous mutation
The authors describe here a new syndrome of progeria linked to LMNA heterozygous mutation, that they have named LMNA-associated cardiocutaneous progeria. Affected patients are normal at birth but undergo progressive cutaneous changes in childhood and die in middle age of cardiovascular complications, including accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. In addition, the proband demonstrated cancer susceptibility, a phenotype rarely described for LMNA-based progeria disorders.
Consult the Pubmed abstract

Am J Med Genet A. ; 161(7):1599-611 ; July 2013
Unique X-linked Australian familial focal segmental glomerulosclerosis with progressive heart block disorder due to a mutation in the NXF5 gene
This study involves a large, unique, multigenerational Australian pedigree in which familial focal segmental glomerulosclerosis co-segregates with progressive heart block with apparent X-linked recessive inheritance. The authors hypothesize that a novel mutation in the NXF5 gene is responsible for causing these diseases in this affected pedigree. Here, they provide a full description of this new phenotype and describe a combined approach of linkage and whole exome sequencing to identify the genetic mutation associated with these co-segregating diseases.
Consult the Pubmed abstract

Hum Mol Genet. ; June 2013

New Genes

Cone rod dystrophy associated with an homozygous nonsense mutation in RAB28
Consult the Pubmed abstract
To read more about "Cone rod dystrophy"

Am J Hum Genet ; June 2013
Severe congenital nemaline myopathy frequently caused by loss-of-function mutations in KLHL40
Consult the Pubmed abstract
To read more about "Severe congenital nemaline myopathy"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
Homozygous truncating and missense mutations in B4GALNT1 responsible for complex hereditary spastic paraplegia
Consult the Pubmed abstract
To read more about "Autosomal recessive spastic paraplegia type 26"
To read more about "Hereditary spastic paraplegia"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
Congenital and limb-girdle muscular dystrophy: identification of GMPPB mutations in eight unrelated individuals
Consult the Pubmed abstract
To read more about "Congenital muscular dystrophy"
To read more about "Limb-girdle muscular dystrophy"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
1p36 deletion syndrome: minimal deletion of the transcription factor PRDM16 is responsible for the cardiomyopathy
Consult the Pubmed abstract
To read more about "1p36 deletion syndrome"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
Autosomal recessive nonsyndromic sensorineural deafness type DFNB linked to missense mutations in three unrelated Pakistani families
Consult the Pubmed abstract
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
Noonan syndrome caused by gain-of-function mutations in RIT1
Consult the Pubmed abstract
To read more about "Noonan syndrome"

Am J Hum Genet. ; [Epub ahead of print] ; June 2013
Multisystem disorder with lipodystrophy: discovery of a recurring heterozygous single-codon deletion in POLD1 affecting the polymerase active site
Consult the Pubmed abstract
Nat Genet. ; doi: 10.1038/ng.2670 ; June 2013
Lennox-Gastaut syndrome: de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies
Consult the Pubmed abstract
To read more about "Lennox-Gastaut syndrome"

Nat Genet. ; 45(7):825-30 ; May 2013
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2: reporting of novel compound heterozygous mutations in TRIM2 gene in one patient
Consult the Pubmed abstract
To read more about "Autosomal recessive axonal Charcot-Marie-Tooth disease type 2"

Hum Mol Genet. ; 22(15):2975-83 ; August 2013
X-linked parkinsonism with spasticity due to altered splicing of ATP6AP2
Consult the Pubmed abstract
Hum Mol Genet. ; [Epub ahead of print] ; April 2013
Reticulate acropigmentation of Kitamura: whole exome sequencing identifies a mutation in ADAM10
Consult the Pubmed abstract
To read more about "Reticulate acropigmentation of Kitamura"

Hum Mol Genet. ; [Epub ahead of print] ; May 2013
Ehlers-Danlos syndrome: musculocontractural type identified as the result of a loss of DES function in a male child
Consult the Pubmed abstract
To read more about "Ehlers-Danlos syndrome, musculocontractural type"

Hum Mol Genet. ; [Epub ahead of print] ; June 2013
Isolated cytochrome C oxidase deficiency: homozygous deletion of CEP89 found in one patient with isolated complex IV deficiency, intellectual disability and multisystemic problems
Consult the Pubmed abstract
To read more about "Isolated cytochrome C oxidase deficiency"

Hum Mol Genet. ; 22(15):3138-51 ; August 2013
Atrial septal defect, ostium secundum type: discovery of a susceptibility locus at chromosome 4p16 in a genome-wide association study
Consult the Pubmed abstract
To read more about "Atrial septal defect, ostium secundum type"

Nat Genet. ; 45(7):822-4 ; May 2013

Research in Action

Clinical Research
Sarcoidosis: improvements in disease activity, lung function and quality of life after anti-TNF treatment
Consult the abstract
To read more about "Sarcoidosis"

Expert Opinion. ; Vol. 1, No. 6 , Pages 437-443 ; June 2013
Lymphangioleiomyomatosis: low-dose sirolimus performs as well as the higher doses used for improving pulmonary function and decreasing chylous effusion
Consult the abstract
To read more about "Lymphangioleiomyomatosis"

Respiratory Investigation. ; June 2013
Monosomy 9q22.3 is associated with an increased risk of nephroblastomas which suggests the involvement of PTCH1 gene in the pathogenesis
Consult the Pubmed abstract
To read more about "Monosomy 9q22.3"
To read more about "Nephroblastoma"

Eur J Hum Genet. ; 21(7):784-7 ; July 2013
Squamous cell carcinoma of head and neck: improvement of progression free-survival acceptable toxicity profile with panitumumab
Consult the Pubmed abstract
Lancet Oncol. ; 14(8):697-710 ; July 2013
Stem Cells
Amyotrophic lateral sclerosis: synergistic effects of the combined delivery of GDNF and VEGF neurotrophic factors in a rat model
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Mol Ther. ; [Epub ahead of print] ; May 2013
Therapeutic Approaches

Hutchinson-Gilford progeria syndrome: targeting isoprenylcysteine methylation ameliorates disease in a mouse model of progeria
Consult the Pubmed abstract
To read more about "Hutchinson-Gilford progeria syndrome"

Science ; 340(6138):1330-3 ; June 2013
Dystrophic epidermolysis bullosa: intravenously injected recombinant human type VII restored skin integrity in two mouse models
Consult the Pubmed abstract
To read more about "Dystrophic epidermolysis bullosa"

J Invest Dermatol. ; 133(7):1910-3 ; July 2013
Diagnostic Approaches

Cystic fibrosis and CFTR-related disorders: accurate and cost-effective approach of targeted-resequencing for molecular diagnosis in 92 patients
Consult the Pubmed abstract
To read more about "Cystic fibrosis"
To read more about "Congenital bilateral absence of vas deferens"
To read more about "Hereditary chronic pancreatitis"

J Med Genet. ; 50(7):455-62 ; July 2013
Behavioral variant frontotemporal dementia: executive function assessment and FTDC criteria support the diagnosis
Consult Pubmed abstracts
To read more about "Behavioral variant of frontotemporal dementia"
To read more about "Frontotemporal dementia"

Neurology. ; 80(24):2180-5; ; June 2013
Neurology. ; 80(20):1881-7 ; May 2013
Neurology. ; 80(21):1973-7 ; May 2013

Patient Management and Therapy
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency: up-to-date review of the clinical, molecular and genetic aspects
Consult the Pubmed abstract
To read more about "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"
To read more about "Dursun syndrome"
To read more about "Severe congenital neutropenia"

Orphanet J Rare Dis. ; 8(1):84 ; June 2013
Craniopharyngioma: hypothalamus-sparing surgery decreases the occurrence of severe obesity without increasing the local recurrence rate
Consult the Pubmed abstract
To read more about "Craniopharyngioma"

J Clin Endocrinol Metab. ; 98(6):2376-82 ; June 2013
Rhizomelic chondrodysplasia punctata: routine cardiac evaluation should be included in the clinical management
Consult the Pubmed abstract
To read more about "Rhizomelic chondrodysplasia punctata"

J Med Genet. ; 50(7):419-24 ; July 2013
Pulmonary arterial hypertension: discussion on the current epidemiologic aspects, diagnostic approaches, classifications, available therapies and future treatments
Consult the Pubmed abstract
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"
To read more about "Chronic thromboembolic pulmonary hypertension"

Orphanet J Rare Dis. ; 8(1):97 ; July 2013
Inherited epidermolysis bullosa: review of current medical, surgical, and experimental therapies
Consult the abstract
To read more about "Inherited epidermolysis bullosa"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 4, p. 279-293. ; April 2013
Pemphigus: overview of treatment options based on data from prospective and retrospective studies as well as larger case series
Consult the abstract
To read more about "Pemphigus vulgaris"
To read more about "Superficial pemphigus"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 4, p. 295-314. ; April 2013
Fabry disease: review of phenotype and enzyme replacement therapy clinical data in women and children
Consult the abstract
To read more about "Fabry disease"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 4, p. 315-330. ; April 2013
Myasthenia gravis: current treatments, orphan drugs and emerging therapies
Consult the abstract
To read more about "Myasthenia gravis"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 5, p. 373-384. ; May 2013
Bullous pemphigoid: summary of therapies commonly used
Consult the abstract
To read more about "Bullous pemphigoid"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 5, p. 405-412. ; May 2013
Leiomyosarcoma: extensive review of the most relevant therapeutic options
Consult the abstract
To read more about "Leiomyosarcoma"

Expert Opinion on Orphan Drugs. ; Vol. 1, No. 5, p. 413-422. ; May 2013

Orphan Drugs
GSK invests in venture capital for orphan medicinal products
GlaxoSmithKline (GSK) is joining hands with the French firm Kurma Life Sciences Partners as well as other investors CDC Entreprises, Idinvest Partners and New Enterprise Associates to invest venture capital that will fund the development of drugs for rare diseases. GSK is investing 17.5 million euros for partnerships that will lead to effective orphan medicincal products to the market. In light of a recent report on the promise of orphan drugs to be profitable to drug companies, GSK is a step ahead of its rival in trying to tap into effective partnerships that are involved in developing orphan medicinal products.
Read the Press Release

Regulatory News
FDA clarifies aspects of the Orphan Drug Act in the Final Rule document
The Orphan Drug Act of U.S allows the FDA to give orphan drugs special marketing protections such as 7 years of market exclusivity, tax credits to offset some of the costs of development, faster regulatory reviews and additional assistance from FDA reviewers during the development and review process. Thirty years after ratifying the Orphan Drug Act, FDA has made a number of minor revisions to bring its definitions up to date and to eliminate ambiguity by clarifying the content. “FDA believes these revisions will clarify, streamline, and improve the orphan-drug designation process”.

The consultation process began in October 2011, with FDA issuing its final rule on the changes. Some of the key changes include refining the definition of an orphan subset to include “use of the drug in a subset of persons with a non-rare disease or condition may be appropriate but use of the drug outside of that subset (in the remaining persons with the non-rare disease or condition) would be inappropriate owing to some property(ies) of the drug, for example, drug toxicity, mechanism of action, or previous clinical experience with the drug”.

Another important clarification was on whether an orphan drug would still keep its designation and hence the special marketing protection if that drug had more than one indication that finally treated more than 200,000 patients. The final rule concluded that as long as each patient population for which the drug is indicated for is less than 200,000, the drug would still have the protections under the Orphan Drug Act. This, however, does not extend to distinct stages of the same disease (for eg., cancer), unless an acceptable justification was provided.

The FDA also attempted to address “evergreening” of drugs, where some companies try to obtain extended periods of patent exclusivity that is in excess of the approved 7 years by changing a component of the drug, some of which simply includes a dose change. However, no resolution was obtained on this as according to the FDA some dose changes may be “eligible for their own seven-year period of orphan exclusive approval” due to its advanced nature.

The final rule also removed language which implied that clinical superiority would require direct comparison with the approved drug such as providing of non-inferiority trial data. FDA also urged sponsors to include only “relevant” in vitro laboratory data, and “clinical experience” in their application, except in cases of “well-documented case histories or significant human experience with the drug” .
Read the document

Drisapersen receives breakthrough therapy designation from FDA
Drisapersen has now been bestowed the designation of a breakthrough therapy by the Food and Drug Administration. Certain exon mutations dystrophin gene cause the rare disease Duchenne Muscular Dystrophy, which currently has no treatment. Drisapersen is an antisense oligonucleotide that acts by skipping the translation of an exon in the dystrophin gene, producing a milder phenotype. This drug, currently in the clinical development stage, is being developed by GlaxoSmithKline (GSK) under an exclusive, worldwide license from Dutch company Prosensa.


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

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

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 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


What's on Where?

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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>

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


Media, Press & Publications
Immune-mediated neuropathies
A special issue of La Presse Médicale/Quarterly Medical Review published in June 2013 presents reviews on Guillain-Barré syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor neuropathy, paraproteinemic neuropathies, and paraneoplastic disorders of the peripheral nervous system.
Consult the table of contents La Presse Médicale 2013 June;42(6Pt2):e177-e244


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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Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)