18 January 2012 print
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2012 a busy year for EUCERD members as a new joint action between the European Commission and the EU Member States gets ready to launch

There will be no resting on laurels for the members of the European Union Committee of Experts on Rare Diseases (EUCERD) in 2012. A quick look at the crowded agenda shows that the momentum to move forward actions designed to help rare disease patients and their families, as well as health professionals and researchers, will in no way ease up this year. Amongst the EUCERD’s key priority areas, many of which build upon existing frameworks, are the European Reference Networks for rare diseases, follow-up of the national plans for rare diseases urged within the context of the Council Recommendation on an Action in the Field of Rare Diseases, and coding and classification activities encompassing the revision of the International Classification of Diseases of the World Health Organization, as well as cross-referencing, and the updating of international nomenclatures using the Orphanet rare disease nomenclature. Other focus areas for the EUCERD in 2012 concern Specialised Social Services for rare disease patients, and the recently-released CAVOD report on the Clinical Added-Value of Orphan Drugs.

These activities will take place within the framework of the new EUCERD joint action between the European Commission and the EU Member States, scheduled to kick off in mid-March and run through February 2015. Coordinated by Pr. Kate Bushby (TREAT-NMD, Newcastle University, UK) several work packages for the EUCERD Joint Action have already been planned in order to address the identified priority areas. Over the next three years of the EUCERD Joint Action, committee members, along with invited experts, will convene regularly to move forward these initiatives.


A changing of the guard…
After fifteen years of heading Orphanet, Dr. Ségolène Aymé steps down as leader, handing the torch to Dr. Odile Kremp


It is disconcerting to imagine what might have happened – or, rather, what might have failed to happen – had Dr. Ségolène Aymé been absent from a meeting that took place in the autumn of 1996 and which was the genesis of Orphanet, the pan-European information portal for rare diseases and orphan drugs. After fifteen years of tireless devotion, Dr. Aymé steps down as Director of Orphanet, passing the torch to the very capable hands of Dr. Odile Kremp (see below). Here, Dr. Aymé kindly shares with the readers of OrphaNews Europe the story of how Orphanet came into being, how it evolved, and where it is heading.

Why and how did Orphanet come into being?
Orphanet was born out of a working group that took place in 1996, convened by Annie Wolf, who was responsible for the Office of Orphan Medicinal Products within the French Ministry of Health. The group was tasked with reviewing the problems encountered by patients and health professionals in the field of rare diseases. In our final report to the French Director General of Health (DGS), we recommended addressing first the problem of information via a website that would be accessible to all stakeholders. This last point was the subject of debate because some members of the working group initially wanted to restrict the site to professionals – a notion that might make some stakeholders smile today. The decision to fund the site was taken immediately by the DGS. SC11, the unit of the National Institute for Health and Medical Research (INSERM) that I had headed since 1992 was selected to implement the website. At the time, the SC11 was located within Infobiogen, the French national resource site for bioinformatics. Thus we already had the technical expertise in place. For the content, we did not have to start completely from scratch because I had been maintaining a personal database since 1974, called Gendiag. This database included some 2500 dysmorphic syndromes described in the literature, indexed by signs and symptoms from a controlled vocabulary. For years, this personal database had served me in establishing the diagnosis for patients I saw in consultation, and had been shared with other colleagues via the Minitel (a French online service accessible through the telephone and a precursor to the World Wide Web). We also had collected data on expert services in France, a directory named Geninfo, which was distributed, free of charge, by postal mail to registered professionals with a trimestrial update. This directory was initially intended to speed up the collaboration between clinicians and researchers to map genes at the origin of diseases. The prospect of making the database more widely available via the Internet was truly a dream come true for me.

How has Orphanet evolved over time?
Orphanet started in 1997 with a team of just three. Today, we have a team of 40 in France alone. We launched with just two sources of funding at the beginning, and now have 18. Orphanet was strictly a Franco-French venture from 1997 to 2000. We now have teams in 38 countries and are negotiating with several others who would like to join. This expansion has not been easy because every day we have to overcome new obstacles. First, the positioning: for whom do we write? This determines the language and the perspective. We chose the non-expert health professional as the target user. We have had to convince colleagues from all specialties to help us through our Scientific Advisory Board in charge of quality control of published information. The battle of credibility has been won over time by consistently demonstrating a rigorous approach coupled with respect for the expertise. The publication of the site content in book format (editions from 1997 to 2005) contributed to further establishing our credibility. The 2500 pages of information reproduced in book format illustrated the scope, depth and breadth of the information we were gathering and making freely available more readily than the website was able to do. We then had to convince other countries that Orphanet was not just a French-language database and cope with the difficulties of translation and validation. We had to find more and more financing to develop all the services requested by our users and accomplish our work within the context of a constantly changing team as our funding limits employment to fixed-term contracts. If we have been able to succeed, it is because the Orphanet team has been talented, diligent and motivated, and because hundreds of experts have accepted to contribute their expertise with no return other than the personal satisfaction of being useful. The ultimate reward is the user satisfaction expressed via our annual satisfaction surveys, along with the worldwide reputation for excellence and accuracy that Orphanet has achieved over the years.

What are the greatest achievements of Orphanet?
We are probably most proud of the list of diseases that had never before been established and their classification. The World Health Organization has thus entrusted me with the presidency of the "Topic Advisory Group" for rare diseases as part of the revision of the International Classification of Diseases (ICD). We are also the only organisation to identify specific expertise on rare diseases in many countries. We also offer an inventory of orphan drugs, both those in development and those already on the market. I am also proud of the Orphanet Report Series that are frequently downloaded as well as our public encyclopaedia, which is used by tens of thousands of people each month. Other triumphs include our newsletter, OrphaNews, which was the idea of the Association Française contre les Myopathies (AFM) and our open-access electronic journal the Orphanet Journal of Rare Diseases which has an Impact Factor of 5.93! The strength of Orphanet is to be attentive to the needs of users, which have evolved over time. The Internet is now a universal communication tool and the scientific and medical research is increasingly relying on information stored in accessible databases. Our latest addition, the site www.orphadata.org is thus a response to the demands of industrial and academic researchers who want to reuse our data.

What are some of the challenges Orphanet faces today?
One major challenge we face involves the sustainability of activity in a context of economic crisis. Another involves keeping up with the avalanche of scientific discoveries that quickly renders information obsolete. Another issue concerns the presentation of knowledge in different formats, to meet the needs of our different users, the translation into new languages such as Russian, Japanese and Chinese. This latter issue poses new challenges for the control of translation quality and the optimisation of search engines.

Now that Dr. Odile Kremp has taken over the helm of Orphanet, what will your responsibilities be in the field of rare diseases?
I remain Chair of the EUCERD (European Union Committee of Experts on Rare Diseases) which involves ensuring the scientific secretariat of the committee, producing an annual report on the rare disease policies in Europe, and editing this newsletter, OrphaNews Europe, which has some 14,000 subscribers. As mentioned above, I am also the Chair of the Topic Advisory Group for rare diseases of the WHO, working on the revision of the ICD. I also play a role in various national and international mandates and hope to get involved in the international coordination of research in the field of rare diseases if the European contract which I introduced is funded. I also want to finally write the articles that I have been trying to find the time to write for quite a while now! What can I say? My retirement will be an active one as long as I will be solicited; as working in this field is both an honour and a pleasure!



Odile Kremp: Orphanet's fearless new leader
On 2 January, Dr. Odile Kremp replaced Dr. Ségolène Aymé as the Director of Orphanet, the pan-European rare disease and orphan drug portal. Paediatrician and Doctor in Public Health from the University of Nancy (France), Dr. Kremp has held various different hospital posts in neonatology and paediatrics. She was Chair of the International Club for Social Paediatrics from 1994 to 1998. In 2008, Dr. Kremp was in charge of monitoring the French Rare Disease National Plan at the General Directorate for Health (the French Ministry of Health). She has carried out 18 paediatric missions to Vietnam since 1993 under a scientific collaboration programme directed by the Ministry of Foreign Affairs. She is Professor Honoris Causae, at the Medical University of Hanoi (2010). Here Dr. Kremp discusses her new role with Orphanet:

Can you describe the path that brought you to Orphanet?
I have always been involved in paediatrics and public health, in the fields of clinical practice, teaching and research. I met Dr. Ségolène Aymé in Montreal in 1986, while doing an internship as a young researcher at the University of Montreal with whom she collaborated. I have always been interested in the comprehensive care of children and their families, and I chaired the International Paediatric Social Club from 1994 to 1998. As a paediatrician at Amiens and as department head at Lille, I of course worked with children with rare diseases, and immediately used the resources of Orphanet, starting with the first paper directories. In 2007, while still a professor of paediatrics at Lille, I became rare disease coordinator at the Institute for Public Health, where I worked on the prioritisation of rare diseases in terms of public health. I also participated in meetings of the Rare Disease Task Force and followed the creation of the European Communication on rare diseases. I joined the French Ministry of Health Directorate General of Health (DGS) in late 2008 as a project manager for the French National Plan for Rare Diseases and contributed to the evaluation of the first plan, and the process in the summer of 2009 to build the second plan (2011 to 2014). From my position with the DGS, I paid most attention to the epidemiology of rare diseases and the training and information for patients and professionals, support for associations, and educational therapy. I continue to participate in EU meetings (including the development of the European Commission Recommendation on rare diseases and implementation of the EUCERD, launch of the Spanish strategy, and meeting of the European Chief Medical Officers on rare diseases). So I have gotten to know and worked with many partners in the field of rare diseases, particularly following the activities of Orphanet and various members of the French rare disease platform.

What are your thoughts on the current situation of rare diseases in France and Europe?
France began to consider rare diseases in the early 1990s, before other European countries, led by patient associations and physicians, through a reflection on orphan drugs. The systems implemented for diseases such as haemophilia, amyotrophic lateral sclerosis, or cystic fibrosis foreshadowed the reference centres in the field of rare diseases, as well as the network of centres of competence. Orphanet has played a major role in informing and training medical professionals. Though of course, all is not perfect, the size of France and its hospital organisation have allowed for the structuration of care. Care, including the social impact of disease and disability, still needs to be improved, and particularly by encouraging young social scientists to get involved. Epidemiological knowledge must also be strengthened, based on a common coding and a collection of structured information in order to build a national database of rare diseases, which will help to tailor the policies of the health system and to focus research.

In Europe, governments have slightly different positions on rare diseases, according to their history, the size of their country, and their health care system, but they all are eventually adopting recommendation on rare diseases. Several countries have already implemented plans or strategies for rare diseases. The fact that many countries are partners in the Orphanet Joint Action, which started in the Spring of 2011 with the support of DG Sanco, will optimise information for patients and professionals, leading to better understanding and identifying of patient needs in terms of care and research, both fundamental and therapeutic. The implementation of the Directive on the rights of patients and cross-border healthcare adopted in 2011, is expected to eventually identify the relevant care networks throughout Europe.

What are your hopes in working with Orphanet? How would you describe the Orphanet of your dreams?
It is a real challenge to take over from Ségolène Aymé, who developed a very powerful tool, one that is renowned in France, Europe, and internationally. I hope to contribute, with the help of the highly motivated team, to pursuing the national and international development of Orphanet, in order to better meet the needs of patients and health professionals.

Ideally, the Orphanet nomenclature will be used in all the medical information systems, to better describe the disease and patient outcomes. It is hoped that using Orphanet will become an automatic reflex for physicians seeking a diagnosis as well as a therapeutic strategy. Orphanet can also be better harnessed to help researchers communicate, and to help both researchers and patients to identify experts and other patients. Many elements to accomplish these goals are already in place! But my vision for Orphanet will grow as I get to know the many different facets of its unique offer. Indeed, I realize that I do not yet know the full potential of Orphanet - particularly in terms of bioinformatics and analytical knowledge, and I look forward to learning a lot through working with the team.

In your experience, what does the field of rare diseases most need now in order to evolve?
Collaboration between patients and professionals, which is already narrower than in other areas of medicine, needs strengthening. The public support must remain strong in the face of illnesses that, taken one by one, affect few patients, but collectively are a public health issue as important as diabetes, asthma or chronic kidney failure. The investment of the pharmaceutical industry, supported by epidemiology and basic and clinical research, is essential to the development of innovative medicinal products, for treating rare diseases, and as models for less rare diseases.






A new European eHealth network could be especially useful in promoting cooperation in the field of rare disease care
In December, the European Commission adopted a Decision establishing an eHealth Network, as foreseen by the Directive on Patients' Rights in Cross-border Healthcare. For the first time, EU legislation includes provisions on eHealth with clear objectives to find modern, innovative solutions for providing better and safer healthcare for all Europeans. In a press release, European Commissioner for Health and Consumer Policy John Dalli commented that "eHealth has the potential to deliver better healthcare to more people in a more sustainable manner”. The Network will bring together the national authorities responsible for eHealth on a voluntary basis to work on common orientations for eHealth. The aim is to ensure EU wide interoperability of electronic health systems and wider use of eHealth. The eHealth Network is expected to translate the results of numerous research projects and pilot projects into real-life accessible services for European citizens. The utility of eHealth may be especially significant in the field of rare diseases, which is marked by scattered expertise and resources. eHealth will allow for remote diagnosis, remote monitoring of patients' conditions and secure sharing of patient records between healthcare professionals.
Learn more



Serbia considers its national plan for rare diseases and makes a financial commitment to treating patients
The National Organization for Rare Diseases in Serbia (NORBS) celebrated its first birthday by organising a Round Table entitled: “National Plan for Rare Diseases – realistic perspectives in 2012” in late November. Representatives from the Ministry of Health, the Republic Institute for Health Insurance, the Belgrade Office of the World Health Organization, the Trustee Office for Protection of Equality, the pharmaceutical industry, medical community, Orphanet-Serbia, and patient organisations, including the NORBS, discussed the different challenges linked to rare diseases in Serbia. The representative of the Ministry of Health made the most important announcement, saying that five percent of government taxes from the state lottery will be dedicated to the treatment of patients with rare diseases. The legal action enforcing this commitment came into effect in December 2011, but the budget plan for 2012 has not yet been finalised. It was also announced that a special Commission will be formed to determine which rare diseases and what kind of treatments will be covered by the new funding scheme.
Poland stakeholders commit to drafting a rare disease plan by end of February
A meeting was organised in Warsaw in December by "Orphan", the National Forum for Rare Disease Therapy, with participation from representatives of the Ministry of Health, families, patient societies, clinical experts, and the Children’s Memorial Health Institute’s (CMHI) group on rare diseases. The conference was a symbolic, official launch of the work toward developing and adopting a National Plan for Rare Diseases, based on a formula of social consultations. During the first day the current state of Polish patients with rare diseases (RDs) was discussed. The second day took place in the CMHI with the participation of the patient group representatives and the clinical experts who work with rare diseases. The main aim of the discussion was the exchange of experiences and views on the care and treatment of patients and the creation of working-groups, including clinical experts from the Polish reference centres. It was agreed that a draft concerning a National Programme on Rare Diseases will be prepared by the end of February 2012, based on data from the working-groups, and in accordance with the Europlan project. The draft will encompass different areas and aspects of rare diseases, such as Classification; Diagnostics; Medical care; Integrated social support; and Information and education. Once prepared, the document will be presented to the Polish Ministry of Health for further discussion.
Sweden’s Agrenska signs contract with government for National Function for Rare Diseases
Sweden’s National Board of Health and Welfare has established a National Function for rare diseases, which will be entrusted to non-profit rare disease care facility Agrenska. In July 2010, the National Board of Health and Welfare was commissioned by the Swedish government to establish a coordination and information dissemination programme in the field of rare diseases. Agrenska, located outside Gothenburg, was chosen from the National Board of Health and Welfare’s procurement on a nation-wide rare diseases programme to start 1 January 2012. The agreement with the Swedish government includes:
  • promoting the coherence and coordination of health care resources for people with rare diseases, and increased coordination with the social insurance, employment services, social services, NGOs and other actors
  • contributing to the dissemination of knowledge and information
  • contributing to the exchange of good practice and experiences at the national and international levels
  • developing an inventory of available resources for people with rare diseases.
  • The new National Function for rare diseases, together with the National Board of Health and Welfare, will work together to develop a strategy for a national plan for rare diseases in line with the EU recommendation.
    Learn more about Agrenska

    Spanish Society of Genetic Counseling launches
    The Spanish Society of Genetic Counseling (SEAGEN) officially launched in December 2011 with the aim of promoting and developing genetic counselling in Spain. The society expects to bring together Spanish professionals working as genetic counsellors and those interested in the field. The main goals are the promotion and development of the profession in Spain, the implementation of specialised training in the area, and the establishment of collaborations with reference societies in the field from other countries.
    Learn more




    How does the death of a child affect siblings?
    An article appearing in the review Cancer Nursing examines how death from cancer (though the findings could be applicable to any chronic, fatal disease) affects the siblings of a deceased child. All the childhood cancers are rare. Changes in personality, school performance, activities and interests were reported. This study allows caregivers to consider appropriate intervention services for the siblings of an affected child.
    Read the PubMed abstract



    OrphaNews Italia offers readers an Italian language translation of the contents of OrphaNews Europe

    There’s a new kid on the block. Nine years after OrphaNews France made its debut and seven years after the first issue of OrphaNews Europe was published, OrphaNews Italia has launched. Releasing its first issue in December 2011, OrphaNews Italia offers a complete translation into Italian of the contents of OrphaNews Europe. Available from the homepage of Orphanet Italy and also from the Orphanet Italian country site (featuring national rare disease information, news and events) OrphaNews Italia extends a heart-felt benvenuto to all Italian readers, who are invited to subscribe to the freely available twice-monthly newsletter.




    Craniosynostosis and multiple skeletal anomalies resulting from a defect in retinoic acid degradation due to CYP26B1 mutations
    Excess exogenous retinoic acid (RA) has been implicated in skeletal malformations, including craniosynostosis. In three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralisation defects, the authors identified a homozygous null mutation in CYP26B1. This gene encodes an RA-degrading enzyme. The first sib died in utero and ultrasonography detection of the affection in two subsequent pregnancies led to pregnancy termination. The authors found a homozygous hypomorphic mutation in the same gene in an unrelated infant born to consanguineous parents. The baby had a phenotype that included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly, and died from unknown causes at 5 months of age. The authors conducted multiple analyses and conclude that RA has a physiological role in partitioning skeletal elements and in the maintenance of cranial suture patency.
    Read the PubMed abstract

    Am J Hum Genet ; 595-606 ; 11 November 2011
    Familial keratoconus with cataract caused by a mutation altering the miR-184 seed region
    MicroRNAs (miRNAs) are small noncoding RNAs which regulate gene expression at the post-transcriptional level. The authors found that a mutation in the seed region of miR-184 (encoded by MIR184) is responsible for a familial eye disease. This disease, affecting 18 of 38 individuals from three generations of a Northern Irish family, is an autosomal-dominant form of severe anterior keratoconus and early-onset anterior polar cataract.
    Read the PubMed abstract

    Am J Hum Genet ; 628-633 ; 11 November 2011
    A fatal mitochondrial disease is associated with defective NFU1 function
    The authors report on ten children with a fatal infantile encephalopathy and/or pulmonary hypertension, leading to death before the age of 15 months. First symptoms started at age 1-9 months. The most prominent clinical features were failure to thrive, pulmonary hypertension, and neurological regression. However, a detailed analysis of clinical presentation and evolution allowed a classification into three groups. Hyperglycinaemia and lactic acidosis were common findings. Glycine cleavage system and pyruvate dehydrogenase complex activities were low. A homozygous missense mutation (c.622G>T) in NFU1 was identified. Nine individuals were homozygous for this mutation, whereas one was compound heterozygous for this and a splice-site (c.545+5G>A) mutation. With biochemical and extensive in vitro studies, the authors conclude that NFU1 functions as a late-acting maturation factor for a subset of mitochondrial iron-sulfur proteins.
    Read the PubMed abstract

    Am J Hum Genet ; 656-667 ; 11 November 2011
    Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome
    The authors studied six brothers, born to consanguineous parents, with features consistent with the prune-belly syndrome (PBS) spectrum. They had congenital bladder malformation, with bladder outflow obstruction. Two of the brothers were initially assigned as having PBS (one deceased soon after birth from renal failure and urosepsis) and the three other elder brothers were considered to have posterior urethral valves. Affected individuals also had bilaterally impaired pupillary constriction to light and dry mouths. The authors found a homozygous frameshift mutation in CHRM3 as responsible for the disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which they showed present in developing renal epithelia and bladder muscle.
    Read the PubMed abstract

    Am J Hum Genet ; 668-674 ; 11 November 2011
    A new autosomal dominant disorder involving hypertelorism, preauricular sinus, punctal pits, and deafness mapping to 14q31
    The authors report on a disorder with variable phenotypic expression in a three-generation family. The major features include hypertelorism, preauricular sinus, deafness, and punctal pits with lacrimal-duct obstruction. The authors mapped this dominant syndrome to chromosome 14q31, but could not identify any causal mutation. They named this new syndrome of the branchial cleft HPPD (Hypertelorism, Preauricular sinus, Punctal pits, and Deafness).
    Read the PubMed abstract

    Am J Med Genet ; 976-985 ; May 2011
    A mitochondrial hypertrophic cardiomyopathy with psychomotor retardation caused by MRPL3 defects
    Hitherto, mutations in two mitochondrial ribosomal proteins only had been reported, both part of the small ribosomal subunit. Here, the authors identified the first mutation in large mitochondrial ribosomal protein MRPL3 in a family of four sibs with hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency. Affected sibs were compound heterozygotes for a missense MRPL3 mutation (P317R) and a large-scale deletion, inherited from the mother and the father, respectively. These mutations were shown to cause abnormal assembly of several complexes of the respiratory chain.
    Read the PubMed abstract

    Hum Mutat ; 1225-1231 ; November 2011



    Sensenbrenner syndrome, Jeune syndrome, and isolated nephronophthisis: WDR19 mutations identified
    Read the PubMed abstract
    To read more about "Cranioectodermal dysplasia"
    To read more about "Jeune syndrome"
    To read more about "Nephronophthisis"

    Am J Hum Genet ; 634-643 ; 11 November 2011
    Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum: POLR3A and POLR3B at cause
    Read the PubMed abstract
    Am J Hum Genet ; 644-651 ; 11 November 2011
    Hypomyelination, hypodontia, and hypogonadotropic hypogonadism (4H syndrome): recessive mutations in POLR3B identified
    Read the PubMed abstract
    To read more about "Hypomyelination - hypogonadotropic hypogonadism - hypodontia"

    Am J Hum Genet ; 652-655 ; 11 November 2011
    Say-Barber-Biesecker variant of Ohdo syndrome: mutations in histone acetyltransferase gene KAT6B responsible
    Read the PubMed abstract
    To read more about "Blepharophimosis-intellectual disability syndrome, Ohdo type"

    Am J Hum Genet ; 675-681 ; 11 November 2011
    Hypoinsulinaemic hypoglycaemia with hemihypertrophy: a de novo activating mutation of AKT2 found at cause
    Read the PubMed abstract
    Science ; 474 ; 28 October 2011
    Hereditary hypotrichosis simplex: a dominant mutation in ribosomal protein L21 (RPL21 gene) found in two Chinese families
    Read the PubMed abstract
    To read more about "Hypotrichosis simplex"

    Hum Mutat ; 710-714 ; July 2011
    Angiotensin-converting enzyme inhibitor induced angioedema: significant association with an XPNPEP2 promoter haplotype
    Read the PubMed abstract
    To read more about "Renin-angiotensin-aldosterone system-blocker-induced angioedema"

    Hum Mutat ; 1326-1331 ; November 2011
    Splenic marginal zone lymphoma: somatic BIRC3 inactivation as a common mechanism in lymphomagenesis
    Read the PubMed abstract
    To read more about "Splenic marginal zone lymphoma"

    Blood ; 4930-4934 ; 3 November 2011
    Behçet disease: confirmation of UBAC2 as a susceptibility gene
    Read the PubMed abstract
    To read more about "Behçet disease"

    Arthritis Rheum ; 3607-3612 ; November 2011



    Strategies for improving research participation in rare lung disease studies
    An article appearing in the publication Chest entitled Rare lung disease research: strategies for improving identification and recruitment of research participants tackles the difficulty of trial recruiting for diseases with low numbers of participants. The authors describe strategies to improve the process of identifying and recruiting patients in the area of rare lung diseases. They cite a lack of standardisation of definitions as an obstacle to trial recruitment and evoke expert consensus statements as a means of improving this. The authors review several recruitment strategies, which they assert lack published examples. This interesting study has relevance for the spectrum of rare diseases.
    Consult the PubMed Abstract



    Fundamental Research
    Hutchinson-Gilford progeria syndrome: progerin production is under tight control of a conserved splicing mechanism
    Read the PubMed abstract
    To read more about "Hutchinson-Gilford progeria syndrome"

    Hum Mol Genet ; 4540-4555 ; 1 December 2011
    Autosomal recessive limb-girdle muscular dystrophy type 2D: epsilon-sarcoglycan is important in preventing cardiomyopathy
    Read the PubMed abstract
    To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2D"

    Hum Mol Genet ; 4644-4654 ; 1 December 2011
    Naxos disease: restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy
    Read the PubMed abstract
    To read more about "Naxos disease"

    Hum Mol Genet ; 4582-4596 ; 1 December 2011
    Congenital myasthenic syndromes: mice with a F1061S mutation in AGRIN are a valid model
    Read the PubMed abstract
    To read more about "Congenital myasthenic syndrome"

    Hum Mol Genet ; 4617-4633 ; 1 December 2011
    Huntington disease: the huntingtin protein is essential for ciliogenesis, which is altered in the disease
    Read the PubMed abstract
    To read more about "Huntington disease"

    Journal of Clinical Investigation ; 4372-4382 ; 1 November 2011
    Myositis: TRAIL is expressed in muscle and may mediate both activation of NF-κB and autophagic cell death
    Read the PubMed abstract
    To read more about "Polymyositis"
    To read more about "Dermatomyositis"

    Arthritis Rheum ; 3448-3457 ; November 2011
    Systemic sclerosis: a new mouse model obtained by treatment with DNA topoisomerase I and Freund’s complete adjuvant
    Read the PubMed abstract
    To read more about "Systemic sclerosis"

    Arthritis Rheum ; 3575-3585 ; November 2011


    Clinical Research
    Cystic fibrosis: significant improvements with a CFTR potentiator in patients with the G551D mutation
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    N Engl J Med ; 1663-1672 ; 3 November 2011
    Haemophilia A: anti-inhibitor coagulant complex prophylaxis decreases the frequency of bleeding in patients with inhibitors
    Read the PubMed abstract
    To read more about "Hemophilia A"

    N Engl J Med ; 1684-1692 ; 3 November 2011
    Cryopyrin-associated periodic syndrome: safety and efficacy of canakinumab in children and adults in a two-year phase 3 study
    Read the PubMed abstract
    To read more about "Cryopyrin-associated periodic syndrome"

    Ann Rheum Dis ; 2095-2102 ; December 2011
    Juvenile dermatomyositis: efficacy of intravenous immunoglobulin therapy in a large cohort
    Read the PubMed abstract
    To read more about "Juvenile dermatomyositis"

    Ann Rheum Dis ; 2089-2094 ; December 2011
    Mevalonate kinase deficiency: on-demand anakinra treatment is effective in patients with HIDS
    Read the PubMed abstract
    To read more about "Mevalonic aciduria"
    To read more about "Hyperimmunoglobulinemia D with periodic fever"

    Ann Rheum Dis ; 2155-2158 ; December 2011
    Systemic sclerosis: two pilot trials showed a large number of adverse events with imatinib
    Read the PubMed abstract
    To read more about "Systemic sclerosis"
    To read more about "Diffuse cutaneous systemic sclerosis"

    Arthritis Rheum ; 3540-3546; 3547-3551 ; November 2011
    Juvenile idiopathic arthritis: effectiveness of dexamethasone iontophoresis for temporomandibular joint involvement
    Read the PubMed abstract
    To read more about "Juvenile idiopathic arthritis"

    Arthritis Care Res ; 1511-1516 ; November 2011
    Chronic myeloid leukaemia: safety and efficacy of bosutinib in chronic phase imatinib resistant or imatinib-intolerant disease
    Read the PubMed abstract
    To read more about "Chronic myeloid leukemia"

    Blood ; 4567-4576 ; 27 October 2011
    Lymphomas: a phase 2 study of tipifarnib activity in patients with relapsed and refractory disease
    Read the PubMed abstract
    To read more about "Lymphoma"

    Blood ; 4882-4889 ; 3 November 2011
    Haemophagocytic syndrome: long-term results of chemoimmunotherapy (HLH-94 treatment protocol)
    Read the PubMed abstract
    To read more about "Hemophagocytic syndrome"

    Blood ; 4577-4584 ; 27 October 2011
    WHIM syndrome: the CXCR4 antagonist plerixafor is a potential therapy for panleukopenia/myelokathexis
    Read the PubMed abstract
    To read more about "WHIM syndrome"

    Blood ; 4957-4962; 4963-4966 ; 3 November 2011
    Graft versus host disease: inducible apoptosis as a safety switch for adoptive cell therapy
    Read the PubMed abstract
    To read more about "Graft versus host disease"

    N Engl J Med ; 1673-1683 ; 3 November 2011
    Eosinophilic esophagitis: an antibody against IL-5 reduces numbers of esophageal intraepithelial eosinophils in children
    Read the PubMed abstract
    To read more about "Eosinophilic esophagitis"

    Gastroenterology ; 1593-1604 ; November 2011
    Pulmonary arterial hypertension: an expert opinion on inhaled treprostinil sodium
    Read the PubMed abstract
    To read more about "Pulmonary arterial hypertension"

    Expert Opin Pharmacother ; 2583-2593 ; November 2011
    Autoimmune lymphoproliferative syndrome: a long-term survey of 90 patients with TNFRSF6 mutation
    Read the PubMed abstract
    To read more about "Autoimmune lymphoproliferative syndrome"

    Blood ; 4798-4807 ; 3 November 2011
    Hereditary breast cancer with BRCA1 mutation: common variants on the wild-type copy of BRCA1 modify the risk of breast cancer
    Read the PubMed abstract
    To read more about "Hereditary breast and ovarian cancer syndrome"

    Hum Mol Genet ; 4732-4747 ; 1 December 2011
    CINCA syndrome: somatic NLRP3 mosaicism is a major cause of the syndrome
    Read the PubMed abstract
    To read more about "CINCA syndrome"

    Arthritis Rheum ; 3625-3632 ; November 2011
    Chronic thromboembolic pulmonary hypertension: results from an international prospective registry
    Read the PubMed abstract
    To read more about "Chronic thromboembolic pulmonary hypertension"

    Circulation ; 1973-1981 ; 1 November 2011
    Congenital heart block: a retrospective, multinational, multicenter study of 175 fetuses
    Read the PubMed abstract
    To read more about "Congenital heart block"

    Circulation ; 1919-1926 ; 1 November 2011


    Gene Therapy
    Bardet-Biedl syndrome: U1 snRNA-mediated gene therapeutic correction of splice defects caused by a very mild BBS1 mutation
    Read the PubMed abstract
    To read more about "Bardet-Biedl syndrome"

    Hum Mutat ; 815-824 ; July 2011
    6-pyruvoyl-tetrahydropterin synthase deficiency: pseudoexon exclusion by antisense therapy
    Read the PubMed abstract
    To read more about "6-pyruvoyl-tetrahydropterin synthase deficiency"

    Hum Mutat ; 1019-1027 ; September 2011
    Leber congenital amaurosis: gene therapy using a self-complementary capsid mutant AAV2/8 restores vision in mice lacking AIPL1
    Read the PubMed abstract
    To read more about "Leber congenital amaurosis"

    Hum Mol Genet ; 4569-4581 ; 1 December 2011


    Therapeutic Approaches
    Spinocerebellar ataxia type 1: exercise improves survival in a mouse model, via the transcriptional repressor Capicua
    Read the PubMed abstract
    To read more about "Spinocerebellar ataxia type 1"

    Science ; 690-693 ; 4 November 2011
    Tuberous sclerosis: therapeutic benefit and limitations of prenatal rapamycin in a new mouse brain model
    Read the PubMed abstract
    To read more about "Tuberous sclerosis"

    Hum Mol Genet ; 4597-4604 ; 1 December 2011


    Diagnostic Approaches

    Facioscapulohumeral dystrophy: molecular combing enables detailed exploration of FSHD locus and accurate diagnosis
    Read the PubMed abstract
    To read more about "Facioscapulohumeral dystrophy"

    Ann Neurol ; 627-633 ; October 2011
    Marfan and Loeys-Dietz syndromes: molecular diagnosis with massive parallel sequencing
    Read the PubMed abstract
    To read more about "Marfan syndrome"
    To read more about "Loeys-Dietz syndrome"

    Hum Mutat ; 1053-1062 ; September 2011


    Chronic autoimmune hepatitis: British Society of Gastroenterology (BSG) guidelines for management
    These guidelines describe the optimal management strategies in adults based on available published evidence. Major advances were made in autoimmune hepatitis management based on controlled trials performed in the 1970s and 1980s, but there has been a dearth of controlled clinical trials in recent decades. Many promising newer immunosuppressive therapies await formal comparison with standard therapies and also many important details in relation to the application of standard therapies remain unclear.
    Read the PubMed abstract

    To read more about "Chronic autoimmune hepatitis"

    Gut ; 1611-1629 ; December 2011
    Juvenile idiopathic arthritis: an AHRQ review on disease-modifying antirheumatic drugs in children
    The US AHRQ (Agency for Healthcare Research and Quality) recently published a review on the benefits and harms of disease-modifying antirheumatic drugs (DMARDs) compared to conventional treatment (non-steroidal anti-inflammatory drugs and/or intra-articular corticosteroids) with or without methotrexate, and of the various DMARDs compared to one another, in children with juvenile idiopathic arthritis (JIA). The review found some evidence that methotrexate is superior to conventional treatment. Among children who had responded to a biologic DMARD, randomised discontinuation trials suggested that continued treatment decreases the risk of having a flare. Reported rates of adverse events were similar between DMARDs and placebo in nearly all published randomised controlled trials. The review identified 11 incident cases of cancer among several thousand children treated with one or more DMARD, suggesting that short-term risk of cancer is low. Future trials are needed to evaluate the effectiveness of DMARDs against both conventional therapy and other DMARDs across categories of JIA, and registries are needed to better understand the risks of these drugs.
    Read the Research Review
    Read the Executive Summary
    Read the Clinician Guide

    To read more about "Juvenile idiopathic arthritis"

    Severe autoimmune diseases: updated guidelines of the European Group for Blood and Marrow Transplantation for haematopoietic stem cell transplantation
    The first consensus guidelines for haematopoietic SCT (HSCT) in autoimmune diseases (ADs) were published in 1997. Since then, clinical trials have progressed to phases 2 and 3 for several types of severe, treatment-resistant ADs, and the European Group for Blood and Marrow Transplantation (EBMT) AD Registry has gathered comprehensive data. This new document aims to provide revised and updated guidelines for both the current application and future development of HSCT in ADs in relation to the benefits, risks and health economic considerations of other modern treatments. Patient safety considerations are central to guidance.
    Read the PubMed abstract

    Bone Marrow Transplant ; Epub ahead of print ; 17 October 2011
    Congenital hypogonadotropic hypogonadism: a review on neonatal gonadotropin therapy in male patients
    This review analyses the possible additional benefits of neonatal gonadotropin therapy in male patients with congenital hypogonadotropic hypogonadism. Encouraging results of neonatal therapy, together with a few reports of prepubertal treatment, support the use of this novel therapeutic strategy. Long-term studies are needed to assess the effect of this approach on sexuality and fertility before recommending its routine use.
    Read the PubMed abstract

    To read more about "Congenital hypogonadotropic hypogonadism"

    Nat Rev Endocrinot ; Epub ahead of print ; 18 October 2011
    Fabry disease: an expert panel report on early diagnosis of peripheral nervous system involvement and treatment of neuropathic pain
    Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Moreover, management of pain in young patients with Fabry disease appears to be inadequate. An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognised patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. They describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction, and summarise the clinical course of peripheral pain. The importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain.
    Read the PubMed abstract

    To read more about "Fabry disease"

    BMC Neurol ; 61 ; 27 May 2011
    Small-cell lung cancer: a review on disease epidemiology, presentation, diagnosis and management
    Read the PubMed abstract
    To read more about "Small cell lung cancer"

    Lancet ; 1741-1755 ; 12 November 2011
    Mucopolysaccharidosis: presentation, diagnosis and management of cardiac disease
    Read the PubMed abstract
    To read more about "Mucopolysaccharidosis"

    J Inherit Metab Dis ; Epub ahead of print ; 9 July 2011
    Kawasaki disease: a clinical practice review
    Learn more
    To read more about "Kawasaki disease"

    J Pediatr Health Care ; 379-387 ; November 2011
    Ulcerative colitis: a review on current understanding of the pathophysiology, diagnosis, and treatment
    Read the PubMed abstract
    N Engl J Med ; 1713-1725 ; 3 November 2011


    A proposal for tax incentives for rare disease medicines … and a call for fair and timely drug supply
    A mini-review appearing in the British Journal of Cancer revisits the ongoing policy debate around value-based medicine pricing. Even with existing orphan drug legislation, it is tricky business bringing new medicines for rare diseases to market and securing funding for their provision. This article takes up the case of osteosarcoma, a malignant bone tumour, and describes the arduous process of introducing the treatment Mifamurtide for the rare cancer. Their example illustrates how a licenced orphan drug can in practicality remain unavailable to patients unable to pay for it. The authors consider the tensions between “…utilitarian strategies aimed at optimising the welfare of the majority in the society and minority interest-focused approaches to equitable care provision” and call for discussion on how to ensure fair and timely drug delivery.
    Consult the PubMed abstract

    A brief Editorial article appearing in Drug Discovery Today calls for tax incentives for orphan drug medicinal products. The article suggests several economic approaches for encouraging the biopharmaceutical industry to invest in products for rare diseases, such as imposing higher taxes on energy-pollution, nicotine and alcohol in order to finance research for rare disease treatments and diagnostics, and introducing tax incentives, particularly for pre-clinical research.
    Consult the PubMed abstract




    ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
    This two-day ENERCA-ESH training course on rare red blood cell disorders will be held in Paris, France on 3-4 February 2012. The course aims at promoting harmonisation of procedures for clinical and biological diagnosis, as well as management and follow-up of patients with very rare red cell disorders, including red blood cell membrane disorders and enzymopathies, congenital dyserythropoietic anaemias, and other rare disorders of the red blood cell. The course should be of interest for biologists, haematologists, paediatricians and trainees in haematology.
    For further details

    European Cytogeneticists Association Course
    The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2012 course (scheduled from 20-28 February) is now available.
    For further details

    Tenth European Course on the Evaluation of Medicinal Products in Children
    Organized with the European Society for Developmental, Perinatal & Paediatric Pharmacology, and the University Rene Descartes Paris V, and taking place from 21-24 February and 27-30 March 2012, modules for this seminar include: Specific aspects of paediatric pharmacology; Issues relating to trials and drug use in children; Drug development and post-marketing surveillance; Pre/peri-natal drug evaluation and use; Paediatric Investigation Plan design; and more.
    For further details

    Evaluation of Drugs for Rare Diseases Seminar
    Taking place from 1-2 March 2012 in Lyon, France, this Eudipharm seminar includes the following elements: Differentiate between rare and common diseases, and the barriers and opportunities for developing orphan drugs; Describe the role of patient groups in developing new products for rare diseases; Consider the pathophysiology, pharmacological and therapeutic models for rare diseases; Assess whether the preclinical and clinical development models for non-rare disease therapies could be implemented for treatments in rare diseases; Outline the regulatory, legal, and ethical requirements for rare diseases and orphan drugs; Evaluate the specific scientific, financial and administrative support needed for running clinical trials and obtaining marketing authorization in rare diseases; Consider multicenter, randomized controlled trials for rare diseases; Assess the acceptable level of evidence from non-randomized or uncontrolled trials; Explain and implement methodological aspects and innovative methods from phase I clinical trials to post-marketing studies for rare diseases; and Outline pharmacovigilance, pharmacoepidemiology and risk management plans in rare diseases.
    For further details

    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, including: Basic and Advanced Course in Genetic Counselling in Practice (14-20 April 2012); Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012); 25th Course in Medical Genetics (20-25 May 2012). 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

    Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
    The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 at the Goldrain Castle in South Tyrol (Italy), 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. The 2012 Clinical Cytogenetics course has not yet been announced.
    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

    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




    VII International Conference on Rare Diseases and Orphan Drugs (ICORD)
    Date: 4-6 February 2012
    Venue: Tokyo, Japan

    A global meeting on international cooperation and public health policies focusing on research, diagnosis, development of and access to treatment and care for rare diseases. The VII ICORD Conference will offer a platform for the exchange of perspectives for medical and healthcare professionals, patients and patients’ groups, basic and clinical researchers, policy-makers, government officers and pharmaceutical, biotechnology and medical device industries.
    For further details

    International Childhood Cancer Awareness Day Multistakeholder Meeting
    Date: 9 February 2012
    Venue: Brussels, Belgium

    On the occasion of International Childhood Cancer Day, Member of the European Parliament Mrs. Glenis Willmott will join a multi-stakeholder audience to raise awareness at EU level of the many challenges of these rare cancers and jointly identify a political pathway to instigate change. Discussions will centre around providing solutions for optimal clinical research through the revision of the EU Clinical Trials Directive, combating differences in outcome across Europe and improved diagnosis at an early stage, particularly for brain tumours.
    For further details

    Rare Cancers Conference: Improving the Methodology of Clinical Research
    Date: 10 February 2012
    Venue: Brussels, Belgium

    The European Society for Medical Oncology and Rare Cancers Europe have joined forces to present the first Conference addressing the scientific and educational needs of relevant stakeholder groups concerning challenges and potential solutions in the field of clinical research on rare cancers.
    For further details

    International Congress on Research of Rare and Orphan Diseases
    Date: 29 February - 2 March 2012
    Venue: Basel, Switzerland

    The Swiss-based Blackswan Foundation and Gebert Rüf Stiftung Foundation, both active in supporting research activities in Rare Diseases, are preparing an international congress of which the main topics will include Gene and cell therapy; Stem cells; Diagnostics; Therapeutic applications; and Genomic disorders. The congress will be open to scientific researchers, specialized scholars, professionals and officials.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details

    European Organisation for Research and Treatment of Cancer (EORTC) 50th Anniversary Conference
    Date: 15-16 March 2012
    Venue: Brussels, Belgium

    The conference offers a unique opportunity to gather all the partners (including national research organizations, health authorities, patient advocacy groups, European Commission, cancer leagues, and the pharmaceutical industry) to celebrate the 50th anniversary of the EORTC network.
    For further details

    Genomic Disorders 2012
    21-24 March 2012
    Cambridge, UK

    Genomic Disorders 2012 presents an exciting blend of genomic science and clinical medicine. The event aims to bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. This year’s meeting will discuss the latest findings relating to the genomic basis of rare disorders, and the role of rare variants in common disease, as these can provide such powerful insights into human biology. Genome wide analyses, including most recently Whole Exome Sequencing, are proving to be of great value in discovering the genetic basis of rare disorders and illustrate the power of humans as a model organism to study. As sequencing technology advances apace, other key aspects of genome science need to develop and grow in parallel.
    For further details

    The Fourth BHD Symposium for Birt-Hogg-Dubé syndrome
    28-30 March 2012
    Cincinnati, USA

    Addressing topics relating to the understanding, diagnostics and treatment of Birt-Hogg-Dubé syndrome. Programme to be available soon.
    For further details

    13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
    Date: 28-31 March 2012
    Venue: London, England

    This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting.
    For further details

    International Symposium on Hepatic Glycogen Storage Diseases
    Date: 4-6 April 2012
    Venue: Lyon, France

    International experts will review the following topics: Glucose metabolism in neonates; A global overview of glycogen metabolism; Liver pathology: steatosis, fibrosis, hepatocellular adenomas and carcinomas and the role of dietary treatment on pathophysiology; Review of kidney, intestinal and muscle complications; and New advances in gene therapy.
    For further details

    Fourth International Meeting on Primary Central Hypoventilation Syndromes
    Date: 13-14 April 2012
    Venue: Warsaw, Poland

    The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
    For further details

    Myomatrix 2012 Conference
    Date: 22-24 April 2012
    Venue: Nevada, USA

    Myomatrix 2012 is a unique conference dedicated to exploring the junction between muscle and extracellular matrix, the myomatrix, the central starting point of inquiry into underlying disease pathogenesis in the CMDs and muscular dystrophies.
    For further details

    CILIA 2012 - Cilia in Development and Disease
    Date: 16-18 May 2012
    Venue: London UK

    Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
    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. The date for abstract submissions has been extended until 31 January 2012.
    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 hypyeroxaluria.
    For further details

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

    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

    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

    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

    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

    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

    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

    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




    A series of articles on rare cancers published in the European Journal of Cancer
    In recent weeks, the European Journal of Cancer has published half a dozen articles on topics relating to rare cancers. Produced by the European project RareCare team, titles include Rare cancers are not so rare: The rare cancer burden in Europe; Rare cancers of the head and neck area in Europe; Descriptive epidemiology of malignant mucosal and uveal melanomas and adnexal skin carcinomas in Europe; Incidence and survival of rare urogenital cancers in Europe; Burden of testicular, paratesticular and extragonadal germ cell tumours in Europe; Epidemiology of glial and non-glial brain tumours in Europe and Incidence, prevalence and survival of patients with rare epithelial digestive cancers diagnosed in Europe in 1995–2002.
    View the European Journal of Cancer

    New text books in the field of rare diseases …
    New textbooks recently published that could be interesting to professionals working in the field of rare diseases include:
    Molecular Pathology of Liver Diseases (Springer; ISBN-13: 978-1441971067)
    Demyelinating Disorders of the Central Nervous System in Childhood (Cambridge University Press; ISBN-13: 978-0521763493)
    Leukodystrophies (International Child Neurology Association series) (Mac Keith Press; ISBN-13: 978-1907655098).


    OrphaNews, The Newsletter of the Rare Diseases Community.
    OrphaNews 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: Sophie Höhn
    Contact Us
    Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

    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), Eileen Treacy (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)
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