11 May 2011 print
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New Eurordis survey depicts the real life situation of European rare disease patients when it comes to accessing orphan drugs

The European rare disease patient alliance Eurordis has made available the results of a survey involving ten European countries that attempts to capture the price and access of orphan drugs at the national level. Working with the national rare disease alliances of Belgium, Denmark, France, Greece, Hungary, Italy, the Netherlands, Romania, Spain, and Sweden, the Eurordis study demonstrates the complexity of the process through which approved orphan products are brought to market across Europe. The principal actors in facilitating orphan drug availability are identified (national competent authorities, national insurance systems, the biopharmaceutical industry, and the patient organisations and national alliances) and the report distinguishes between orphan drug marketing authorisation – largely a European-level process - and orphan drug access – largely a national-level process.

Trying to chart which products are available in what countries and at what price is a difficult task and stakeholders from many different strands of the rare disease community lament the lack of transparency in this area. To begin with, one must define what is meant by “available”. A product can be on the market but not reimbursed by the national insurance scheme. Technically, such a product is available but if the patient cannot afford it, such a product is not accessible.

The survey reveals that while patient organisations can access information about the availability of the medicinal products used by their members, other data – particularly pricing information - remains inconclusive, as data on the official prices in individual countries as well as the actual prices paid by their healthcare system are not easily obtained. The information presented shows the diversity of product availability between countries, and identifies Denmark, France and the Netherlands amongst the countries enjoying wide access to orphan drugs, in contrast to Greece, Romania or Spain, which have a limited number of the 60 EU approved orphan drug products available.

The Eurordis inventory contributes the experience and knowledge of the patient alliances toward orphan drug access in their individual countries. What is needed now is full access to the hard pricing and reimbursement data and the national decision-making processes in order to better identify the bottlenecks that are preventing full and equal access to all the EU market-approved orphan drugs.
Consult the Eurordis inventory

EUCERD update
Summary report of second EUCERD meeting now available online

A summary report of the second meeting of the European Committee of Experts on Rare Diseases (EUCERD) is now available on the EUCERD website. The second meeting, which took place on 22-23 March 2011, addressed several key issues, including membership decisions to the EUCERD and rules of procedure, the various activity strands the EUCERD is pursuing, a briefing of outcomes of the Europlan project, discussion of the third draft of a Commission Proposal of the Road Map for the implementation of the EU policy on rare diseases 2010-2013, an overview of the EU Public Health work programme for 2011, the Joint Action to support the implementation of the Council Recommendation and the Commission Communication on Rare Diseases during the period 2012-2014, an update on international cooperation activities in the field of research on rare diseases, and the European Reference Networks for rare diseases in the context of the recently adopted Cross-Border Health Care Directive. The third EUCERD meeting is scheduled to be held 24-25 October 2011.
Consult the EUCERD second meeting summary report


Spotlight on...
Disease-based registries for rare disorders
Dr Carla E.M. Hollak, Professor of Inherited Metabolic Diseases at the Academic Medical Centre in Amsterdam
During the Ninth International European Working Group on Gaucher Disease, which took place in June 2010 in Cologne, Germany, a topic was raised pertinent to many of the rare diseases that have a treatment available. The subject of concern is the regulatory post-marketing registries that biopharmaceutical companies are required to create and maintain for products that received a marketing authorisation under exceptional circumstances. These circumstances include a lack of data that characterises many clinical studies of these chronic, often life-threatening rare conditions, due to the meagre availability of patient populations. Consequently, the European Medicines Agency demands post-authorisation data that encompass efficacy and safety. These data are gathered via the creation of a registry by the drug manufacturer recording the data of patients receiving the recently-authorised treatment.

While such registries are useful for the purpose of tracking the outcomes of a particular treatment, many professionals - and patients - believe a registry must go much further. Registries for rare diseases have the potential to provide crucial information useful to the fields of epidemiology, research, clinical care, health technology assessment, and industry. With scant resources available for the over 7000 rare diseases identified to date, a collaborative approach to registries, involving the input of all the appropriate stakeholders, is being called for by many in the field. One expert who took part in the discussions in Cologne was Doctor Carla E.M. Hollak, Professor of Inherited Metabolic Diseases at the Academic Medical Centre in Amsterdam. Pr. Hollak recently published the article Limitations of Drug Registries to Evaluate Orphan Medicinal Products for the Treatment of Lysosomal Storage Disorders in the free-access Orphanet Journal of Rare Diseases. Here, Dr. Hollak has graciously accepted to share her experience with the regulatory post-marketing drug registries as well as some ideas on how these data sources could be adapted to maximise their potential:

OrphaNews Europe: When did the post-marketing drug registries first emerge in Europe and under what circumstances?

Pr Carla Hollak: The European Union instituted the Orphan Drug Regulation in 2000. The first approvals under this regulation were two enzymes for treatment of Fabry disease, a rare lysosomal storage disorder. Such orphan medicinal products (OMPs) are then approved by the European Medicines Agency (EMA) under “exceptional circumstances” because it is unlikely that comprehensive data from future clinical trials will become available. Both manufacturers were asked to provide data for annual reassessment of the benefit/risk profile of their product. Both instituted a drug registry for this purpose. Unfortunately, this leads to fragmentation of data.

OrphaNews Europe: Why are post-marketing drug registries particularly important in the field of rare diseases?

Pr Carla Hollak: They are important because the clinical studies that form the basis for approval of an OMP are usually limited in several aspects: the clinical studies for rare disorders usually cover only a small number of patients; the inclusion criteria induce a selection of patients and therefore observed benefit may not be applicable to the “real world” population; the endpoints used in the study are not seldom disease related markers that have not been validated to serve as true surrogate endpoints; important long term clinical endpoints such as prevention of new complications and quality of life are usually lacking. Post-marketing registries may capture important longer time outcomes, which can support cost-effectiveness analyses and ultimately decisions on reimbursement. Another important purpose would be to help physicians and patients to understand the health benefit of an OMP, for the entire clinical spectrum of the disease.

OrphaNews Europe: Do post-marketing registries share a standard design with common elements?

Pr Carla Hollak: The registries for lysosomal diseases always include demographic data, as well as data on diagnosis and disease history. Follow-up generally focuses on disease signs and symptoms, such as haemoglobin values in Gaucher disease and kidney function in Fabry disease.

OrphaNews Europe: What do you see as the inherent problems with the current post-marketing registries?

Pr Carla Hollak: There are a number of problems with the existing registries. One important limitation is the incompleteness and variable quality of the data. Also, data from different centres are not always comparable as different methodology may be used. This is specifically a problem for biochemical markers. The incompleteness is also due to the fact that submission of data is voluntary. In a busy clinical practice, filling out forms is one of the least attractive duties for a physician. Another limitation is that the datasets are usually narrowly focused and some important long term outcome data may be missed. Since analyses are performed by statisticians and epidemiologists employed or commissioned by the manufacturer of the product, physicians will usually not have access to the raw data. In addition, reports that are produced for the EMA are not shared with physicians and patient organizations. Last but not least, when more than one product for an orphan disease is authorized, post-marketing registries that are drug-oriented have limited value.

OrphaNews Europe: What happens when there is more than one product for the same indication?

Pr Carla Hollak: When more than one product for an orphan disease reaches the market, post-marketing requirements to set up a drug registry will inevitably result in fragmentation of data and lack of collaborations between centres. We have seen this happen for Fabry disease. It is feared that this may happen now for Gaucher disease (see below) and presumably for many other rare conditions, as for several of these multiple treatment options are underway.

OrphaNews Europe: Can you comment on the case of Gaucher disease in particular?

Pr Carla Hollak: Gaucher disease is a rare lysosomal storage disorder and has been the first disorder for which an enzyme therapy was developed. Before the Orphan Drug Regulation was instituted, a Gaucher Registry was launched in 1991 by Genzyme. This registry has shown to be a valuable tool to monitor efficacy of therapy on specific symptoms and signs of the disease. It has also become clear that is not easy to assess the benefit of therapy on long term outcomes, such as prevention of bone complications. Importantly, there is a striking incompleteness of data: for example biochemical markers are important in Gaucher disease but the registry has not been able to analyse these. A second treatment for Gaucher disease with the oral substrate inhibitor Zavesca was licensed in 2002 as an OMP (Actelion Pharmaceuticals). As part of post-marketing commitments to the EMA, a safety database was launched and these databases operate independent from each other. Recently two new enzymes have been developed of which Vpriv has been recently approved (Shire HGT). Again, a post-marketing drug registry is installed. If the same scenario is used for taliglucerase (an enzyme manufactured by Protalix/Pfizer, not yet authorized) and the new substrate inhibitor eliglustat (Genzyme), five drug registries will operate separately for a single rare disorder. The recent shortage of Cerezyme, due to manufacturing problems in Genzyme’s plant, has resulted in many switches of treatments. If data on patients are submitted to different drug registries without any sharing of data, we will not be able to compare efficacy of different drugs or analyse the consequences of switch in large groups of patients. Thus, the current institution of drug registries leads to fragmentation of data and hinders comparative studies and switch studies.

OrphaNews Europe: Can you discuss why a “disease registry” might be more advantageous than a “drug registry”?

Pr Carla Hollak: Based upon the arguments given above, a disease registry will create the possibility to assess the long term safety and benefit of different treatments for a rare disorder. This may also result in treatment algorithms that allow more individualised choices for patients. For example, substrate inhibition may be beneficial for some patients and enzyme therapy for others. Crucial in this context is that the role of the pharmaceutical companies changes and supervision and analysis of data is performed by an independent body. When the definition of important therapeutic goals is improved and captured in the database, long term outcomes can be better studied for all drugs, without the risk of fragmentation. Last but not least, because of the high costs, national governments require cost-effectiveness studies. These are now usually performed in small cohorts in a single country. An independent disease registry could play an important role here in addressing long term treatment effects, including quality of life, and costs. In general, costs of OMPs in relation to health benefit deserves an EU wide discussion.

OrphaNews Europe: Given that, at the present time at least, post-marketing drug registries do exist for a number of rare disease products, what adjustments could be made to make them perform at a more optimum level?

Pr Carla Hollak: Collaboration, transparency and completeness are the magic words. The existing databases could be combined or at least data should be shared. The purpose of the registry needs to be clearly defined by physicians, patient representatives and government, which has implications for its requirements. In my view, long term treatment goals should be translated into clearly defined items that are captured in this database. The database or databases then need to be harmonised. An independent oversight committee should be installed. Treating physicians should become more actively involved and share the responsibility to submit complete and uniform data. When physicians are not reporting to the registry, they might consider transferring their patients to a centre of expertise.

OrphaNews Europe: What role could the EMA take in the process of encouraging more collaborative registries?

Pr Carla Hollak: The role of EMA is crucial, as the institution of a drug registry managed by the pharmaceutical company inevitably leads to fragmentation of data and lack of transparency. When there is already another product on the market for the same indication EMA can support the launch of a disease registry after a new OMP receives authorization, especially when this is “under exceptional circumstances”. EMA should be involved in the process of defining the requirements of a disease registry, as sufficient information on safety and efficacy of the different OMPs need to be collected. In general, more interaction with physicians and patient organisations is needed. For example, it would help when all assessment reports are open to the public and outcomes of post-marketing studies are discussed.

Other recent publications on the topic of rare disease registries
Registries for rare diseases have been the topic of several interesting publications in addition to the article Limitations of Drug Registries to Evaluate Orphan Medicinal Products for the Treatment of Lysosomal Storage Disorders published in the free-access Orphanet Journal of Rare Diseases. The How (and Why) of Disease Registers, appearing in late 2010 in the journal Early Human Development, takes the example of cystic fibrosis to discuss the principles and pitfalls of registry design. Another study, published in the journal Respiratory Medicine looks at The Problems of Clinical Trials and Registries in Rare Diseases. The authors evoke the importance of registries for understanding the natural history of rare diseases and for recruiting patients for rare disease clinical trials. Similarly, an article published in Paediatric Drugs in February of this year entitled Disease Registries and Outcomes Research in Children: Focus on Lysosomal Storage Disorders evokes the disease registry as a complement to the clinical trial, especially in paediatric populations. The authors observe that "disease registries, which can collect clinical information in larger, more heterogeneous populations than can be included in a clinical trial, are becoming increasingly valuable. Their use is particularly beneficial for diseases affecting very small patient populations, such as lysosomal storage disorders, and for looking at specific populations, for example, children". Finally, two articles penned by the same authors call for a global rare disease registry, an idea that emerged from the workshop, Advancing Rare Disease Research: The Intersection of Patient Registries, Biospecimen Repositories, and Clinical Data. The call for a global registry echoes a general movement toward international collaboration and cooperation in the field of rare diseases, a shift made necessary by scattered expertise, limited financial resources, small populations of patients, and the large number of rare conditions.

National & International Policy Developments
New report calls for a paradigm shift in mainstream medicine to adopt genetic services as a key element
A new report from the Foundation for Genomics and Population Health (commonly known as the PHG Foundation) encourages the mainstream medical specialities to become versed in the field of genetics, incorporating genetic knowledge and technology into their offer. The report, after demonstrating that inherited conditions make up a "significant proportion" of patients seen in general specialised services such as cardiology or ophthalmology, encourages mainstream medicine to develop the "genetic expertise and genomic technologies firmly within their own care pathways". In the UK, the regional services would play "a key leadership role" in making this happen. The authors of the report propose "...a shift of the axis of main clinical responsibility for individual patients with inherited disease from clinical genetics to the relevant specialty - cardiology, ophthalmology, renal medicine, neurology or a host of other areas". Evoking a future in which, "…rather than genetics ‘moving into mainstream medicine' … clinical areas develop and expand to integrate new clinical expertise relevant to inherited disease and a new set of genomic technologies into clinical pathways as relatively specialised areas within their own service", the report acknowledges that close cooperation with specialist clinical and laboratory genetics service would be necessary in order to promote and sustain such a shift.
Consult the report

Other European news
Funding for French institute could help make rare genetic diseases 'a distant memory'

The Paris-based Imagine Institute of Genetic Diseases was selected for funding via the French government's University Hospital Institute (UHI) call for proposals in late March. The Imagine project, led by Professor Alain Fischer, focuses on understanding the mechanisms involved in genetic diseases and seeks to accelerate the development of new diagnostic and therapeutic solutions. The UHIs are intended to be new centres of excellence in research, patient care, training and technology transfer in the field of health. Some €850 million have been allocated to the IHU programme under France's National Bond Scheme ("Le Grand Emprunt"), of which €64.2 million are earmarked for Imagine. It is estimated that inherited diseases affect more than 3 million people in France, of whom a high proportion are children. The funding Imagine will receive will enable it to significantly accelerate research into genetic diseases by working across the whole spectrum of basic and clinical research to optimise knowledge generation and fight genetic diseases more effectively in both paediatric and adult patients. In a press release, Professor Claude Griscelli, President of the Imagine Foundation, expressed his satisfaction with the successful call for proposals: "I am certain that the emergence of university hospital institutes will have a real structural impact in France. I am delighted to know that by federating skills and resources, the UHIs will catalyze major scientific advances and deliver significant patient benefits”. Professor Alain Fischer observed that, “This is a unique opportunity to create a large, integrated organization for research and patient care in the field of genetic diseases. These additional resources will enable us to increase our international competitiveness, recruit the new talents needed to develop an ambitious scientific program and create essential tools for technology transfer and knowledge dissemination. The University Hospital Institute will identify and develop new treatments and diagnostics likely to benefit a large number of severely handicapped patients. For all these people, our objective is the same: to make their disease a distant memory”.

Learn more about the Imagine Institute and Foundation

New UK project seeks to decipher genetic basis behind developmental disorders
Deciphering Developmental Disorders (DDD) is a newly launched project that “aims to improve the diagnosis and care of children in the UK who fail to develop normally due to changes in their genetic makeup”. The project seeks to capture the genetic make-up of up to 12 000 children with intellectual or physical delays or who have multiple malformations. A collaborative effort between the National Health Service Clinical Genetics Services across the UK and the Wellcome Trust Sanger Institute, the project "will provide information for researchers and clinicians into rare chromosomal abnormalities and their possible role in disease". In a press release, project leader Dr Nigel Carter commented that, "Over 6000 babies are born each year with serious developmental disorders, often caused by very rare genetic abnormalities. By linking together the expertise in genomics at the Wellcome Trust Sanger Institute with the unique network of Clinical Genetics Services offered by the NHS, these families can directly benefit from the rapid growth in our understanding of the human genome". Another interesting facet to be explored by the project are the ethical and social aspects involved in the clinical use of new genomic technologies, including the “perceptions and expectations of patients and families”. The project is supported by the Health Innovation Challenge Fund, a parallel funding partnership between the Wellcome Trust and the Department of Health. Learn more

New research programme seeks to uncover genetic basis of cutis marmorata telangiectatica congenita
A new international genetic research programme has been created for Cutis Marmorata Telangiectatica Congenita (CMTC), a congenital localised or generalised vascular anomaly characterised by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. Although no gene has to date been linked to CMTC, experts suspect it has a genetic basis or predisposition with an environmental trigger. Now, a collaboration between the Academic Hospitals in Maastricht and Rotterdam (the Netherlands) and researchers from the University of Toronto and the University of British Columbia, Canada are seeking to try and learn more about the genetic basis of this condition. Since very few families have been described with CMTC, the researchers are especially interested in working with families with two or more affected members.
For further information

Other International News
OMIM website revamped and expanded, adding Orphanet to its list of external links
The pan-European rare disease and orphan drug information portal Orphanet has joined the list of external links provided on the OMIM website, which was recently revamped. OMIM is the Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes that is freely available and updated daily. The Mendelian Inheritance in Man catalogue was created in the early 1960s by the late Dr Victor A. McKusick (learn more). Housed in the National Center for Biotechnology Information (NCBI) and included in its search engine, the OMIM was developed in 1985 and made widely available via the internet in 1987. Each known gene and phenotype has a six-figure MIM number assigned to it. Orphanet, which provides the MIM link for each disease and for every corresponding gene in its own database, is now included in the OMIM list of clinical external links for all relevant phenotype entries.
Moroccan experts form group for the congenital neutropenias
The Moroccan Group for Congenital Neutropenias (Gemneutro) recently launched. Gemneutro, made up of various experts in the field, is creating a registry to capture the situation for this group of diseases in Morocco. In April, Gemneutro organised the First Seminar on Congenital Neutropenias at the Casablanca Children’s Hospital. The seminar included a presentation of the Gemneutro action plan, in addition to discussions on different aspects of congenital neutropenia.
Learn more about Gemneutro


Orphanet News

Orphanet touches shore on the new world via a partnership with Quebec
Orphanet has forged a partnership with Quebec to extend its rare disease and orphan drug information portal to the province as a pilot phase before extending to all Canadian provinces. This means that information on Quebec-based research entities, health care professionals, laboratories, and patient organisations will be soon available via the rare disease portal. Orphanet, already available in 38 pan-European countries, is one of many rare disease stakeholders moving forward international cooperation to improve information, care and treatment for rare disease patients worldwide. The Quebec-Orphanet project will be coordinated by the Department of Medical Genetics at the Montreal Children’s Hospital - McGill University Health Centre. With the financial support of the Commission Permanente de Coopération Franco-Québécoise, Quebec will soon have its own Orphanet country site page listing local policy developments, conferences, and other news. It is estimated that rare diseases affect 5% of Quebec's population.

Portuguese-language Orphanet proving to be a big success in Brazil
In the two-and-a-half months since the rare disease and orphan drug information stored on the Orphanet website became available in Portuguese, the number of visits to the site has skyrocketed. The largest share of visits (more than 13 000 in March alone) comes from Brazil – with an increase of over 2000% from January. Visits to the site coming from Portugal have also escalated - from 1226 in January to 5765 in March – a leap of over 370%. Orphanet warmly welcomes all its new visitors and hopes each one finds the particular information being sought.
Visit Orphanet in Portuguese

New rare disease emergency guidelines for Portugal and Italy
Orphanet provides rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. New guidelines, translated via funding from Alexion Europe, are now available in Portuguese for:
Epilepsia mioclónica grave da infância (Dravet syndrome)
Esclerose tuberosa (Tuberous sclerosis)
Porfírias cutâneas (Porphyria cutanea tarda)
Angioedema não induzido pela histamina (Non histamine-induced angioedema)
Hemoglobinúria Paroxística Nocturna (Paroxysmal Nocturnal Haemoglobinuria)

Four new emergency guidelines are also available in Italian, translated via funding from Shire AG, for:
Diabete insipido centrale (Central diabetes insipidus)
Epilessia mioclonica grave del neonato (Dravet syndrome)
Malattia di Huntington (Huntington disease)
sindrome familiare del QT lungo (Familial long QT syndrome)


New Syndromes

Autosomal dominant partial lipodystrophy, insulin resistance, hepatic steatosis, and dyslipidaemia due to perilipin deficiency
Perilipin is required for optimal lipid incorporation and release from the lipid droplet. The authors describe three unrelated patients with partial lipodystrophy, severe dyslipidaemia, insulin-resistant diabetes, and fatty liver. Some of their children, parents or siblings present, most partially, some entirely, the same features. Subcutaneous fat from the probands was characterized by smaller-than-normal adipocytes, macrophage infiltration, and fibrosis. The authors identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in the patients. In contrast to wild-type perilipin, mutant forms of the protein failed to increase triglyceride accumulation when expressed heterologously in preadipocytes.
Read the PubMed abstract

N Engl J Med ; 740-748 ; 24 February 2011
DICER1 syndrome: a pleiotropic tumour predisposition syndrome due to DICER1 mutations
As constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB), the authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours. Constitutional DICER1 mutations were identified in 19 families including 11/14 with PPB, 2/3 with cystic nephroma, 4/7 with ovarian Sertoli-Leydig-type tumours, 1/243 with Wilms tumour (this patient also had a Sertoli-Leydig tumour), 1/1 with intraocular medulloepithelioma (this patient also had PPB), 1/86 with medulloblastoma/infratentorial primitive neuroectodermal tumour, and 1/172 with germ cell tumour. The inheritance was investigated in 17 families. DICER1 mutations were identified in 25 relatives: 17 were unaffected, one mother had ovarian Sertoli-Leydig tumour, one half-sibling had cystic nephroma, and six relatives had non-toxic thyroid cysts/goitre. Thus, constitutional DICER1 haploinsufficiency predisposes to a broad range of tumours, making a substantial contribution to PPB, cystic nephroma and ovarian Sertoli-Leydig tumours, but a smaller contribution to other tumours. Most mutation carriers are unaffected, indicating that tumour risk is modest. The authors have termed this condition “DICER1 syndrome”.
Read the PubMed abstract

J Med Genet ; 273-278 ; April 2011
A Cornelia de Lange-like phenotype with brain abnormalities and hypertrophic cardiomyopathy caused by MRPS22 mutation
The authors describe the case of a boy born to consanguineous parents. The child presents Cornelia de Lange-like dysmorphic features, brain abnormalities and hypertrophic cardiomyopathy. The authors noted combined OXPHOS complex I, III and IV deficiency in the patient’s fibroblasts, and found a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Mutations in genes implicated in Cornelia de Lange syndrome or copy number variations were not found.
Read the PubMed abstract

Eur J Hum Genet ; 394-399 ; April 2011
Green jaundice associated with biliary obstruction resulting from a mutation in the biliverdin reductase alpha gene
The authors investigated two unrelated Inuit women who had episodes of green jaundice associated with biliary obstruction. The crises were accompanied by increased biochemical markers of cholestasis, together with absent or moderate hyperbilirubinaemia. In contrast, the authors noted hypercholanaemia and high concentrations of biliverdin IXα in serum, urine, bile and milk. Hyperbiliverdinaemia disappeared after surgical correction of the cholestasis. Analysis of the coding sequence of the biliverdin reductase alpha (BVRα) gene (BLVRA) detected three single-nucleotide polymorphisms; a homozygosity for c.214C→A was found in both patients. Analysis revealed that the BLVRA variant containing the c.214C→A mutation generated a truncated protein with no catalytic activity. This complete absence of BVRα activity is a non-lethal condition, the most evident phenotypic characteristic of which is the appearance of green jaundice accompanying cholestasis episodes.
Read the PubMed abstract

J Med Genet ; 219-225 ; April 2011

New Genes

Cerebral vasculopathy and early onset stroke: homozygous mutation in SAMHD1 gene identified
Read the PubMed abstract
PNAS ; 5372-5377 ; 29 March 2011
Features suggestive of anauxetic dysplasia: POP1 mutations explain the phenotype in a family
Read the PubMed abstract
To read more about "Anauxetic dysplasia"

PLoS Genet ; e1002027 ; March 2011
Acroosteolysis dominant type: truncating mutations in NOTCH2 at cause
Read the PubMed abstract
To read more about "Acroosteolysis dominant type"

Nat Genet ; 303-305; 306-308 ; 6 March 2011
Sick sinus syndrome: a rare variant in MYH6 is associated with high risk of the disease
Read the PubMed abstract
To read more about "Sick sinus syndrome"

Nat Genet ; 316-320 ; 6 March 2011
Ear-patella-short stature syndrome: mutations of pre-replication complex components identified as causing the disease
Read the PubMed abstract
To read more about "Ear-patella-short stature syndrome"

Nat Genet ; 350-355; 356-359; 360-364 ; 27 February 2011
Primary biliary cirrhosis: 12 new susceptibility loci pointed
Read the PubMed abstract
To read more about "Primary biliary cirrhosis"

Nat Genet ; 329-332 ; 13 March 2011
Multiple keratoacanthoma, Ferguson-Smith type: a spectrum of mutations in TGFBR1 is responsible
Read the PubMed abstract
To read more about "Multiple keratoacanthoma, Ferguson-Smith type"

Nat Genet ; 365-369 ; 27 February 2011
Neuroblastoma: three low-risk susceptibility loci identified
Read the PubMed abstract
To read more about "Neuroblastoma"

PLoS Genet ; e1002026 ; March 2011
Childhood-onset cataract: mutations in the RNA granule component TDRD7 at cause
Read the PubMed abstract
To read more about "Early-onset non-syndromic cataract"

Science ; 1571-1576 ; 25 March 2011
Permanent neonatal diabetes mellitus: a patient with enteric anendocrinosis has biallelic mutations in NEUROG3
Read the PubMed abstract
To read more about "Permanent neonatal diabetes mellitus"

Diabetes ; 1349-1353 ; April 2011

Research in Action

Fundamental Research
Duchenne muscular dystrophy: phosphodiesterase inhibitors may lead to candidate molecules for treatment
Read the PubMed abstract
To read more about "Muscular dystrophy, Duchenne type"

PNAS ; 5331-5336 ; 29 March 2011
Clinical Research
Familial pancreatic carcinoma: prevalence of CDNK2A mutations and penetrance for carriers, whether smokers or not
Read the PubMed abstract
To read more about "Familial pancreatic carcinoma"

Eur J Hum Genet ; 472-478 ; April 2011
Familial melanoma: risk for CDKN2A mutation carriers who are relatives of case carriers in Australia and the UK
Read the PubMed abstract
To read more about "Familial melanoma"

J Med Genet ; 266-272 ; April 2011
Prader-Willi syndrome: growth standards for infants
Read the PubMed abstract
To read more about "Prader-Willi syndrome"

Pediatrics ; 687-695 ; April 2011
Severe combined immunodeficiency: neonatal diagnosis leads to significantly improved survival outcome
Read the PubMed abstract
To read more about "Severe combined immunodeficiency"

Blood ; 3243-3246 ; 17 March 2011
Mendelian susceptibility to atypical mycobacteria: recessive partial IFN-γR1 deficiency more common than initially thought
Read the PubMed abstract
To read more about "Mendelian susceptibility to atypical mycobacteria"

Hum Mol Genet ; 1509-1523 ; 15 April 2011
Amyotrophic lateral sclerosis: a pilot trial testing G-CSF
Read the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

PLoS One ; e17770 ; 14 March 2011
Stem Cells

Steinert myotonic dystrophy: mutant human embryonic stem cells reveal neurite and synapse formation defects
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy in adults. By using neuronal progeny derived from human embryonic stem cells carrying the causal DM1 mutation, the authors identified an early developmental defect in genes involved in neurite formation and the establishment of neuromuscular connections. Decreased expression of two members of the SLITRK family, SLITRK2 and SLITRK4, was observed in DM1 neural cells and in DM1 brain biopsies. In addition, DM1 motoneuron/muscle cell cocultures showed alterations consistent with the known role of SLITRK genes in neurite outgrowth, neuritogenesis, and synaptogenesis. Rescue and knockdown experiments suggested that the functional defects can be directly attributed to SLITRK misexpression.
Read the PubMed abstract

To read more about "Steinert myotonic dystrophy"

Cell Stem Cell ; 434-444 ; 8 April 2011
Gene Therapy
Retinitis pigmentosa: suppression and replacement gene therapy in a murine model of autosomal dominant disease
In rhodopsin-linked autosomal dominant retinitis pigmentosa, over 150 mutations in the rhodopsin gene may be at cause. They authors validated a means of correcting the genetic defect in a mutation-independent manner. Separate adeno-associated virus (AAV) vectors were used to deliver an RNA interference (RNAi)-based rhodopsin suppressor and a codon-modified rhodopsin replacement gene resistant to suppression. Viruses were subretinally coinjected into P347S mice, a model of dominant rhodopsin-linked retinitis pigmentosa. Benefit in retinal function and structure was observed for at least 5 months.
Read the PubMed abstract

To read more about "Retinitis pigmentosa"

Mol Ther ; 642-649 ; April 2011
Therapeutic Approaches
Pancreatic carcinoma: CD40 agonists alter tumour stroma and show efficacy in mice and humans
The authors tested the combination of an agonist CD40 antibody with gemcitabine chemotherapy in a small cohort of patients with surgically incurable pancreatic ductal adenocarcinoma (PDA) and observed tumour regressions in some patients. They reproduced this treatment effect in a genetically engineered mouse model of PDA and found unexpectedly that tumour regression required macrophages but not T cells or gemcitabine. CD40-activated macrophages rapidly infiltrated tumours, became tumouricidal, and facilitated the depletion of tumour stroma.
Read the PubMed abstract

To read more about "Pancreatic carcinoma"

Science ; 1612-1616 ; 25 March 2011
Diagnostic Approaches

Primary central nervous system lymphoma: microRNAs in the cerebrospinal fluid for diagnosis
The diagnosis of primary central nervous system lymphoma (PCNSL) depends on histopathology of brain biopsies. In this study, the authors identified microRNAs (miRNAs) with significant levels in the cerebrospinal fluid (CSF) of patients with PCNSL (23 patients with PCNSL compared with 30 control patients with various neurologic disorders). They found 3 miRNAS with a significant diagnostic value. When combined, these miRNAs enabled diagnosis with 95.7% sensitivity and 96.7% specificity.
Read the PubMed abstract

To read more about "Primary central nervous system lymphoma"

Blood ; 3140-3146 ; 17 March 2011

Patient Management and Therapy

Turner syndrome: growth hormone plus childhood low-dose estrogen shows promise
In this double-blind, placebo-controlled trial, the authors randomised 149 girls with Turner syndrome (age: 5 to 12.5 years) to four groups: double placebo, estrogen alone, growth hormone alone, and growth hormone-estrogen. At the first visit after the age of 12.0 years, patients in all treatment groups received escalating doses of ethinyl estradiol. Growth hormone injections were terminated when adult height was reached. Growth hormone treatment increased adult height in these patients. In addition, the data suggest that combining childhood ultra-low-dose estrogen with growth hormone may improve growth and provide other potential benefits associated with early initiation of estrogen replacement.
Read the PubMed abstract

To read more about "Turner syndrome"

N Engl J Med ; 1230-1242 ; 31 March 2011
Squamous-cell carcinoma of the head and neck: a randomised phase 3 study of zalutumumab
The authors investigated zalutumumab (a monoclonal antibody targeting the epidermal growth factor receptor) for patients with recurrent or metastatic squamous-cell carcinoma of the head and neck after failure of platinum-based chemotherapy in an open-label, phase 3 trial. They randomly allocated 286 patients in a 2:1 ratio to receive zalutumumab plus best supportive care or best supportive care with optional methotrexate. Zalutumumab was given weekly by individual dose titration on the basis of skin rash. Although zalutumumab did not increase overall survival, the study showed a significant improvement in progression-free survival. Zalutumumab dose titration on the basis of rash appeared safe.
Read the PubMed abstract

To read more about "Squamous cell carcinoma of head and neck"

Lancet Oncol ; 333-343 ; April 2011
Charcot-Marie-Tooth disease type 1A: no effect of ascorbic acid in a 2-year double-blind randomised trial
The authors undertook a multicentre 2-year trial to test the efficacy and tolerability of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A. 277 adult patients were randomly assigned to receive oral ascorbic acid or matching placebo for 24 months. Treatment was well tolerated, but ascorbic acid supplementation had no significant effect on neuropathy compared with placebo after 2 years.
Read the PubMed abstract

To read more about "Charcot-Marie-Tooth disease type 1A"

Lancet Neurol ; 320-328 ; April 2011
Wilson disease: a zinc monotherapy is not as effective as chelating agents
There have been few studies of large cohorts testing treatment options for Wilson disease. The authors retrospectively analysed 288 patients treated with different treatment regimens (chelators, zinc, or a combination). Hepatic treatment failure occurred more often from zinc therapy (14/88 treatments) than from chelator therapy (4/313 treatments). Survival without transplantation showed a significant advantage for chelating agents. Changes in treatment resulted mostly from adverse events, but the frequency did not differ between groups. Patients who did not respond to zinc therapy showed hepatic improvement after reintroduction of a chelating agent.
Read the PubMed abstract

To read more about "Wilson disease"

Gastroenterology ; 1189-1198 ; April 2011
Univentricular cardiopathy: impact of oral sildenafil on exercise performance after Fontan operation
This double-blind, placebo-controlled study was conducted in 28 children and young adults after Fontan operation. Fifteen subjects had single right ventricle, 8 had single left ventricle, and 5 had a mixed ventricular morphology. Subjects were randomised to receive placebo or sildenafil for 6 weeks; after a 6-week washout, subjects crossed over for an additional 6 weeks. Sildenafil significantly improved ventilatory efficiency during peak and submaximal exercise. There was also a suggestion of improved oxygen consumption at the anaerobic threshold in 2 subgroups (those with single left or mixed ventricular morphology and those with a baseline serum brain natriuretic peptide level >100). These findings suggest that sildenafil may be an important agent for improving exercise performance in children and young adults with single-ventricle physiology after the Fontan operation.
Read the PubMed abstract

To read more about "Univentricular cardiopathy"

Circulation ; 1185-1193 ; 22 March 2011
Haemoglobinopathies: therapeutic considerations for associated pulmonary hypertension
According to the authors, pulmonary hypertension associated with beta-thalassaemia and sickle cell disease is prevalent, but overlooked. In this review, therapeutic options for prevention and for treatment are presented.
Read the PubMed abstract

To read more about "Beta-thalassemia"
To read more about "Sickle cell anemia"

Circulation ; 1227-1232 ; 22 March 2011
Zygomycosis: contemporary face and management strategies
Several countries have seen rising frequencies of zygomycosis (mucormy). After a presentation of the current state of knowledge of characteristics and risk factors of the disease, this review is mainly dedicated to therapeutic methods and strategies for management.
Read the PubMed abstract

To read more about "Zygomycosis"

Lancet Infect Dis ; 301-311 ; April 2011
Three new Clinical Utility Gene Cards available
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. Three new Clinical Utility Gene Cards have been published for:
Wolf-Hirschhorn syndrome
Monosomy 22q13
WAGR syndrome


Orphan Drugs

China looks to existing country policies for guidance in determining its own orphan drug legislation
An article in the Journal of Public Health Policy analyses existing orphan drug policies around the world (Australia, EU, Japan, Korea, Taiwan and the USA) in a bid to identify best practices that might be applicable to China, a country of 1.32 billion people. As China contemplates how to regulate and encourage the investigation of orphan drugs, the authors acknowledge that they “lag far behind” other countries – having yet to determine the prevalence of rare disease patients in the country. However, China is making some progress, namely via the Guidelines for Registration of Special New Drugs featuring a fast approval process for medicines related to rare disease that was published this year. The article suggests other policies “…to assess the social value of health care for rare diseases; to find ways to fund R&D on orphan drugs; and to develop Chinese-oriented orphan drug policies.” In an Editorial Note, Journal of Public Health Policy Eo-Editor Anthony Robbins asserts that “… orphan drugs … deserve a global strategy. How can the world assure that afflicted populations too small to attract investment in the drugs that might help them receive these orphan drugs? … If every time an orphan drug were developed, licensed, and manufactured in one country, the maker could look forward to a global market – a great financial incentive – many more people with rare diseases would benefit from these pharmaceuticals”. Policy-makers should also keep in mind that rare disease strategies extend beyond orphan drugs to encompass prevention, diagnostics, research, and social services, to name a few other aspects.
Consult the PubMed abstract

Four positive opinions for orphan designation at the April COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted four positive opinions issued at the April 2011 COMP meeting for the treatment of:

- mucopolysaccharidosis type IIIA
- acute lymphoblastic leukaemia
- neuroblastoma
- pancreatic cancer

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

CHMP approves extending Carbaglu to hyperammonaemia from isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia
At the April 2011 meeting of the Committee for Medicinal Products for Human Use, a positive opinion for the extension of therapeutic indication (adding new treatment options for medicines that are already authorised in the EU) was adopted for Carbaglu (carglumic acid), from Orphan Europe, to include the treatment of hyperammonaemia due to isovaleric acidaemia, methylmalonic acidaemia and propionic acidaemia.
Learn more

FDA approves brain tumour device and molecules for Wegener granulomatosis, microscopic polyangiitis, and juvenile arthritis

In the USA, the Food and Drug Administration (FDA) has approved a device to treat adults with glioblastoma multiforme that recurs or progresses following chemotherapy and radiation therapy. The NovoTTF-100A System (Novocure, USA) delivers low-intensity tumour treatment fields to the tumour site. The FDA also recently approved Rituxan (rituximab), in combination with glucocorticoids, to treat patients with Wegener granulomatosis and microscopic polyangiitis, two rare disorders that cause vasculitis. Rituxan, manufactured by Genentech, is the first approved product for these disorders. Also from Genentech, Actemra (tocilizumab) received FDA approval for a new indication - active systemic juvenile idiopathic arthritis in children ages 2 years and older.


Courses & Educational Initiatives

Upcoming European School of Genetic Medicine courses
The European School of Genetic Medicine offers advanced training in the fields of genetics and genomics in medicine. Upcoming courses include the 24th Course in Medical Genetics (18‐22 May 2011). The European Society of Human Genetics (ESHG) is offering a certain number of fellowships covering the registration fee for these courses.
For further details

Update in Neuromuscular Disorders
Being held from 13-16 June 2011, at the Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, in London, this established paediatric and adult course is now in its fourth year. Topics to include: What’s new in Duchenne muscular dystrophy?; Cognitive and behavioural profile of Duchenne MD; Psychological effects of participation in clinical trials; Cardiac involvement in neuromuscular disease; Congenital muscular dystrophies; Mitochondrial disorders – classification and genetic basis; and much more.
For further details

Mental Retardation: From Clinic to Gene and Back
Held from 4-8 July 2011 in Braga, Portugal, this course offers a structured review and update on the genetic basis of intellectual deficit, including discussion of the three main groups of genetic causes of intellectual deficit: malformation syndromes, predominantly neuromuscular disorders and metabolic diseases. Five scholarships including free registration and reimbursement of expenses up to 500 EUR will be offered (deadline: 30 April 2011).
For further details

3rd Goldrain Course in Prenatal Genetic Diagnosis
The course, taking place from 15 to 21 October 2011 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. TOPICS include Techniques: Amniocentesis and amniocyte examination, chorionic villus sampling and examination, cordocentesis and fetal blood examination, pre-implantation genetic diagnosis, prenatal diagnosis from fetal DNA and cells in maternal blood, QF-PCR and MLPA, DNA-arrays, aneuploidy screening and PGD, QF-PCR as a stand-alone test. Obstetric issues: Obstetric indications for PD, prenatal dysmorphology and assessment of congenital developmental defects, PD in twins and selective fetocide, the fetal heart as a window to detect genetic problems, risk assessment for chromosomal anomalies following non-invasive prenatal testing, prenatal ultrasonic diagnosis: routine screening approach; specific examinations; fetal therapy; prenatal magnetic resonance examination. Genetic issues: genetic counseling in the context of potential prenatal diagnosis, genetic indications for PD, estimation and calculation of recurrence risks, techniques and their indications: conventional cytogenetics; molecular cytogenetics; mutation analysis; biochemical diagnosis; questionable results; mosaicism and chimaerism. Ethical considerations.
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 2011 programme
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

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


What's on Where?

3rd Symposium on Disorders of Sex Development
Date: 20-22 May 2011
Venue: Lubeck, Germany

Disorders of Sexual Development (DSD) constitute a group of rare, mostly heritable disorders affecting the genito-urinary tract and in most instances also the endocrine-reproductive system. This symposium “From Gene to Gender” looks at what has been learnt and what is still needed. Sessions will focus on genetics, hormones and actions, phenotype modulation, clinical aspects and more.
For further details

International Conference on Inherited Disorders of Muco Ciliary Clearance (Focus on PCD)
Date: 20-22 May 2011
Venue: Muenster, Germany

Genetic disorders affecting muco‐ciliary clearance are rare but burdensome for affected patients. Very recently a magnitude of distinct Primary Ciliary Dyskinesia (PCD) variants and their genetic background have been identified. This disorder is also known as immotile cilia syndrome or Kartagener Syndrome. This conference will gather leading scientists and physicians involved in the diagnostics and treatment of patients with PCD, as well as affected persons.
For further details

Ninth Hereditary Hemorrhagic Telangiectasia International Scientific Conference
Date: 20-24 May 2011
Venue: Antalya, Turkey

This biennial conference, held since 1996, is attended by a multi-disciplinary, international group of clinicians, researchers and patient association representatives with the goal of advancing research and discoveries through multi-disciplinary "cross-fertilization" and international collaboration. An attendance of approximately 300 is expected.
For further details

European Human Genetics Conference 2011
Date: 28-31 May 2011
Venue: Amsterdam, Netherlands

Featuring sessions on mitochondrial diseases and neonatal screening, iPS cells, ciliopathy and brain, neurodegenerative diseases, genetic therapy, prenatal diagnosis, dysmorphology workshop, educational sessions on Marfan, Noonan, and Ehlers-Danlos syndromes, amongst others, and much more.
For further details

The World Orphan Drug Summit
Date: 31 May – 1 June 2011
Venue: Frankfurt, Germany

The World Orphan Drug Summit will tackle challenges that are currently slowing the development, market authorisation and patient access to orphan drug treatments. The event will focus on delivering in-depth discussion and practical solutions to provide participants with the strategies to grow their orphan drug business.
For further details

The 11th Annual International Gene Forum 2011
Date: 10-11 June 2011
Venue: Tartu, Estonia

The 11th Gene Forum 2011 will bring together experts from Europe and US for discussion of the progress in the field of genetics and in particular, on interdisciplinary areas within human genetics, epigenetics, modern population genetics, biomedical informatics and personal medicine. The conference incorporates also an exhibition aimed at the biotechnology-related companies. Sessions specific to rare diseases figure on the agenda.
For further details

11th EUROCAT Symposium on Congenital Anomalies
Date: 17 June 2011
Venue: Antwerp, Belgium

The 11th European EUROCAT symposium on congenital anomalies will focus on the prevention, registration and care of congenital anomalies. Main topics include prenatal and preconceptional care; environmental risk; and long term outcome.
For further details

9th International Prenatal Screening Group Congress
Date: 19-21 June 2011
Venue: Barcelona, Spain

This congress brings together laboratory providers, researchers, maternal foetal medicine specialists, geneticists and others interested in the provision of prenatal screening. The meeting will expand on the past meetings of the International Down Syndrome Screening Group through the inclusion of screening for disorders with a Mendelian pattern of inheritance and other single gene disorders, identification through maternal serum biochemical markers, foetal nucleic acids in maternal circulation and ultrasound, early detection of pregnancy complications and other conditions.
For further details

Eighth European Cytogenetics Conference
Date: 2-5 July 2011
Venue: Porto, Portugal

This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other.
For further details

VI Cornelia de Lange Syndrome World Conference
Date: 27-31 July 2011
Venue: Copenhagen, Denmark

Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
For further details

Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
Date: 30 August – 02 September 2011
Venue: Geneva, Switzerland

The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
For further details

European Conference on Post Polio Syndrome
Date: 31 August – 02 September 2011
Venue: Copenhagen, Denmark

This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
For further details

3rd International Symposium on Pheochromocytoma and Paraganglioma
Date: 14-17 September 2011
Venue: Paris, France

An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside. Deadline for abstract submission: 28 May 2011
For further details

18th Pediatric Rheumatology European Society Congress (PRES2011)
Date: 14-18 September 2011
Venue: Bruges, Belgium

Offering a venue for continued education, the sharing of new research developments, and fostering academic collaboration, for clinicians, trainees, scientists and allied health professionals in the field of paediatric rheumatology. The scope of PRES2011 includes genetics, etiopathogenesis, clinical innovations and recent advances in treatment covering a wide spectrum of both common and rare rheumatic diseases in children. Deadline for abstract submission: 16 May 2011
For further details

5th International Conference on Birth Defects and Disabilities in the Developing World
Date: 24-27 September 2011
Venue: Lodz, Poland

The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
For further details

Pharmaceutical Pricing and Reimbursement Information Conference 2011
Date: 29-30 September 2011
Venue: Vienna, Austria

The WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies in Vienna invites participants to discuss pharmaceutical policies and their practical implementation in the light of current challenges such as the economic crisis with high ranking experts and policy makers. The main topics of the conference are pricing and reimbursement of medicines in the in- and out-patient sector, interface management and the rational use of medicines from a comprehensive, international and European perspective. Orphan Drugs will be subject to several discussions.
For further details

12th International Congress of Human Genetics
Date: 11-15 October 2011
Venue: Montreal, Canada

The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
For further details

Tuberous Sclerosis Complex Scientific Day
Date: 14 October 2011
Venue: Paris, France

This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
For further details

Treat-NMD Global Conference
Date: 8-11 November 2011
Venue: Geneva, Switzerland

The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
For further details

Sanfilippo Foundation Switzerland International Congress
Date: 8-10 December 2011
Venue: Geneva, Switzerland

“Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
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


Press & Publications

Article depicts France's CEMARA - an effective model for a shared information system for rare disease professionals
An article in the review Studies in Health Technology and Informatics depicts France’s CEMARA informatics system for rare diseases. CEMARA (CEntres MAladies RAres) was developed in order to support the Reference Centre (RF) system that France has elaborated for rare disease research, epidemiology, care and management. France has labelled 131 specific RCs for rare diseases or groups of diseases. Shared by professionals, CEMARA collects “continuous and complete” records of all the patients that present with a rare disease in France. Using a common core data set encompassing identification data (for the index case and family members), diagnosis, context and medical activity, CEMARA is used by almost 50 rare disease centres, thus allowing health care professionals to share a secure, web-based platform with a common ontology (provided by Orphanet). At the time of the article publication, CEMARA contained 56 593 patient records and had almost 850 members registered in 171 clinical units of the active registered RCs.
Consult the PubMed abstract

Fourth edition of Vogel and Motulsky’s Human Genetics brings readers up to speed
The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics. In the ten years since the appearance of the third edition, many new data and insights have emerged for understanding the genetic and genomic basis of development and function in human health and disease – including the rare genetic diseases. While the chapters of this edition are written by multiple experts, the general spirit of this book highlighting problems, approaches, and history continues. The fourth edition has been extensively expanded by new chapters on timely topics such as epigenetics, pharmacogenetics, gene therapy, cloning, and genetic epidemiology, and databases for basic and clinical genetics. In addition, a multi-chapter section giving an overview on comparative genetics and the main model organisms useful for human genetics (mouse, dog, worm, fly, fish) has been introduced.
Title: Vogel and Motulsky’s Human Genetics, Problems and Approaches, 4th Edition
Authors: Michael Speicher, Stylianos E. Antonarakis and Arno G. Motulsky -Eds.
Publisher: Springer, 2010
ISBN-13: 978-3540376538


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

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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