20 June 2012 print
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Editorial
 
Sixth European Conference on Rare Diseases and Orphan Products galvanises stakeholders
 


Like a happily married couple who periodically renews their wedding vows, the European Conference on Rare Diseases and Orphan Products (ECRD) allows stakeholders to rekindle their commitment to the rare disease cause. This biennial meeting draws together the rare disease and orphan drug community from across Europe and beyond to share triumphs, address problems, unstop bottlenecks, and move forward on all fronts – regulatory, research, policy, therapeutic, social. Organised by the European Organisation for Rare Diseases (Eurordis) and the DIA Europe, the sixth edition of the ECRD was held in Brussels from 24-25 May. Over 650 participants from 55 different countries attended.

A meeting of minds … and hearts
Perhaps the largest benefit of the ECRD is its capacity to galvanise stakeholders. The rich exchange between participants – researchers, health professionals, patients and patient organisations, policy makers, members of the biopharmaceutical industry, and bioinformatics specialists, breathes fresh hope and energy into the goals and struggles individual participants bring to the table. This year’s event was particularly pivotal for driving forward national rare disease plans, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU Member States to create by the end of 2013. This year’s ECRD focused on several often complex issues relating to the implementation of the Council Recommendation. The organisation and development of Centres of Expertise for rare diseases was discussed at length, along with similar issues around the European Reference Networks, which still have to be defined and selected within the context of the Directive on cross-border healthcare, the adoption of which spurred discussion on how the rare disease community can best benefit from sharing knowledge and resources. While most experts agree that it is the data that must travel as much as possible, many practical questions – especially in the areas of the organisation of expertise and reimbursement – remain to be ironed out. Other topics addressed this year included Health Technology Assessment (HTA) in the EU Member States and how to develop a harmonised approach that will yield greater equity between countries while eliminating unnecessary duplication of effort. Another interesting subject involved the care of patients transitioning from paediatric to adult services. For many rare diseases, comprehensive services available for paediatric populations suddenly dry up when patients reach adulthood. Given that advances in care and treatment are allowing a longer life for many patients, this is an urgent question that needs addressing.

A rich programme
There were many interesting sessions offered within the context of seven distinct themes: National Plans for Rare Diseases; Centres of Expertise and European Reference Networks; Information and Public Health; Research from Bench to Bedside; Orphan Products and Rare Disease Therapies – Access; Orphan Products and Rare Disease Therapies – Regulatory; and Patients’ Empowerment. Of particular note were the opening Plenary sessions, which featured a keynote address from European Commissioner for Health and Consumer Policy, John Dalli, who set a tone of optimism by announcing that “action on rare diseases features prominently in the European Commission proposal for the new Health Programme and the new Research Programme for 2014 onwards” and that he was confident that the EU Member States would “adopt national plans on rare diseases in due time despite the difficult economic climate”..
Consult the speech of John Dalli


Other presentations of the opening sessions brought participants up to speed on the State of the Art of Rare Disease Activities in Europe (Dr. Ségolène Aymé, EUCERD); the State of the Art Around the World (Dr. Durhane Wong Reiger, Canadian Organisation for Rare Disorders); the Dynamic of National Plans in EU Member States (Dr. Edmund Jessop, National Health Service UK); and Cutting Edge National Strategy Case Studies from Germany, Belgium and France.

Other notable sessions throughout the two day event included the Introduction to Centres of Expertise; How Rare Disease Research can contribute to innovation; Introduction of European Reference Networks; Making rare diseases visible for research and public health; The Big Picture of Rare Disease Research Policy; The value and specificity of the rare disease business model; Improving Care through Clinical Guidelines; EU Infrastructure & Projects in the field of rare diseases and patient registries; EU Policy Developments in the Field of Access to Orphan Drugs; Health care pathways focusing on transition from childhood to adulthood; Novel reimbursement schemes as a potential way forward; Compassionate Use Programmes; and Ways to look at HTA for Orphan Drugs and Rare Diseases.
Stakeholders are already looking forward to the seventh ECRD, to be held in Berlin in 2014.
Visit the website of the 6th ECRD

 


 
EU Policy News
 
The Orphacol case exposes flaws in the mechanism bringing medicinal products to market and in the Commission's comitology system
 

Orphacol (cholic acid) was developed and has been used as a hospital formulation in France for the treatment of inborn errors of primary bile acid synthesis since the early 1990s. The property rights were transferred to France-based Cell Therapies Research & Services (CTRS) in 2007. Orphacol was granted an orphan designation by the European Medicines Agency (EMA) in 2002 and received a favourable opinion recommending marketing authorisation from the EMA's Committee for Medicinal Products for Human Use (CHMP) in December 2010. The European Commission, however, rejected the application to authorise Orphacol on the grounds that the application was incomplete, lacking pre-clinical and clinical evidence. Another favourable CHMP opinion (in April 2011) was again rejected. In response to a Parliamentary question submitted by Member of Parliament Gilles Pargneaux, the European Commission responded that:

After thorough examination, the Commission considers that the conditions for the granting of a marketing authorisation under exceptional circumstances are not met in this case. The requirements of the legislation, in particular the data requirements that must be submitted to obtain a marketing authorisation, are key to ensure a high level of public health. Patients suffering from rare diseases deserve the same level of quality, safety and efficacy in medicinal products as other patients.

The granting of the marketing authorisation in this case would also create a precedent that would put at risk the achievement of the goals of the Paediatric Regulation as an application for a paediatric investigation plan was not made.


The EU Member States vetoed the Commission’s request to reject marketing authorisation and the case is at a standstill and under deliberation by the EU Court of Justice.

 
EMA
 
European Medicines Agency provides public access to reports of suspected adverse drug reactions via new website
 
In yet another action designed to augment transparency, the European Medicines Agency (EMA) has launched a public website housing reports of adverse effects suspected in medicinal products authorised in the European Economic Area (EEA). The reports originate from national medicines regulatory authorities and the pharmaceutical companies that hold marketing authorisations for the medicines and are extracted from EudraVigilance, the European Union medicinal product safety database. The website launch is in compliance with EudraVigilance Access Policy, developed to improve public health by supporting the safety-monitoring of medicines and increasing the EMA’s level of transparency. According to a press release, the new website houses data on some 650 medicinal products, and gathers various incidents on a given product into one report. The information can be viewed by various features, including age, gender, the nature of the adverse effect, and outcome. There is also information provided on how to report a suspected adverse reaction to a medicine. The website is available in all 23 EU languages.

 


 
National & International Policy Developments
 
Canada becomes first country to approve stem cell medicinal product for rare disease
 
Health Canada has granted marketing authorisation to Prochymal (remestemcel-L) for the treatment of acute graft-vs-host disease (GvHD) in children. Prochymal, from Osiris Therapeutics, is the first manufactured stem cell product to win regulatory approval, as well as being the first approved therapy for GvHD, a reaction of donor immune cells against host tissues and a complication of allogeneic hematopoietic stem cell transplant. Prochymal was approved under Health Canada's “Notice of Compliance with conditions” scheme, which allows patients access to treatments targeting unmet medical conditions and which have a favourable risk/benefit profile in clinical studies. Under the Notice of Compliance with conditions pathway, the sponsor agrees to conduct confirmatory clinical studies.
 
New database available for medicinal products studied in children provides labelling information
 
Both European and USA regulatory agencies have identified the need for medicinal products specifically developed for paediatric populations. Many existing products have never been tested for safety and efficacy in children. To remedy this, new regulations have been introduced. In Europe the Paediatric Regulation came into effect in 2007, and included the creation of the Paediatric Committee within the European Medicines Agency and the Paediatric Investigation Plans (learn more). In the USA, Congress has also passed legislation to increase paediatric studies and incorporate the resulting information in labelling. The Pediatric Labeling Information Database has now been launched by the Food and Drug Administration (FDA), as a “one-stop resource” for labelling information, which can be searched by the product’s commercial or chemical name, or by the condition for which it was studied. Developed by the FDA's Office of Pediatric Therapeutics, which focuses on safety, scientific, and ethical issues in paediatric clinical trials as well as for products approved for use in children, in collaboration with the Center for Drug Evaluation and Research, the database will be updated regularly. Currently, the database has over 400 distinct entries, gleaned from studies submitted in response to the legislation. Data is available for more than 300 medicinal products with expanded approval incorporating new age groups following related studies; over 80 products with new or enhanced paediatric safety data; more than 30 products with new or modified dosage information; and 80 products containing information on a lack of efficacy in paediatric populations.
Learn more

 
Newborn sequencing screening grants programme gets ready to launch
 
According to an article appearing in GenomeWeb Daily News a grant programme is underway in the USA that will fund studies exploring whole genome and/or whole exome sequencing applied to newborn populations. The five-year $25 million programme, being developed by the National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, has three principle goals: expanding newborn genomic data; performing DNA-based studies of specific disorders identified through newborn screening; and examining related legal, ethical, and social issues stemming from the application of genome sequencing to newborns.
Learn more

 
Other European news
 
Innovative Medicines Initiative funds molecule screening platform for translational research
 
The Innovative Medicines Initiative (IMI), the world’s largest public-private partnership in healthcare, seeks to speed up the development of better and safer medicines for patients by supporting collaborative research projects and building networks of industrial and academic partners to boost pharmaceutical innovation in Europe. A joint undertaking between the European Union and pharmaceutical industry association European Federation of Pharmaceutical Industries and Associations (EFPIA), the IMI recently announced funding for the development of a platform designed to facilitate the discovery of novel medicines – including products for rare diseases. The “European Lead Factory”, an EU-wide public-private scheme to be designed with an “industry-like” European Screening Centre, will build up and manage a comprehensive library of candidate drug molecules. Pharmaceutical companies engaged in the project will contribute some 300 000 compounds while academic and smaller drug company partners will add another 200 000. Hoping to address academic/industry fragmentation, the five-year €169 million initiative will “provide to public partners an ‘industry-like’ discovery platform to translate cutting-edge academic research into high-quality candidate drug molecules on a scale and speed that was not possible previously. Such candidates will be directly introduced to the drug development process for further refinement or will serve as research tools to improve ... understanding of disease mechanisms”. Up to €80 million will be provided via the European Commission’s Seventh Framework Programme for Research (FP7), while the remaining amount of funding will be generated by contributions from participating companies, members of the EFPIA.
Learn more

 
Other International News
 
Lancet article describes Australia’s process to develop a strategy for rare diseases
 
The 11 May issue of the Lancet contains an article that brings readers up to speed on the land down under … particularly Australia’s efforts to implement a national strategy for rare diseases similar to plans being developed across Europe. Australia has adopted the EU definition of a rare disease as a condition affecting one person per 2000 of the population or less. It is estimated that between one and two million Australians are affected by rare diseases, including some 400 000 children.

The distribution of healthcare responsibilities and funding make implementing a national strategy challenging in Australia, as is the case with several EU countries also working on plans for their rare disease patients. According to the article, Australia lacks solid epidemiology data due primarily to a lack of research interest. Things are starting to evolve, however and one instrument for change is the Australian Paediatric Surveillance Unit (APSU), funded by the Federal Government and the National Health and Medical Research Council (NHMRC). The APSU monitors a selection of conditions – including rare diseases – providing precious data. The APSU convened a national working party in 2008 to identify the elements for a national strategy, taking international plans as a model, and the following year published a call for a national plan. While a request to discuss this agenda with the country’s Health Ministry was not granted at the time, it seems that now things are moving forward. The Australian Health Ministers' Advisory Council has asked for a scoping paper that would present the benefits and disadvantages of a national plan, to be prepared by the Office for Population Health Genomics in Western Australia's Department of Health, which also hosted the Awakening Australia to Rare Diseases conference in April, 2011. At this event, health professionals, researchers, policy makers, parents and carers, and support organisations gathered to discuss related issues and the call for a national plan was endorsed. The National Rare Disease Coordinating Committee has since been formed to move forward the development of a national plan. The need for a national advocacy organisation was also acknowledged and since the conference, the patient-led advocacy group Rare Voices Australia has been formed as an initial measure toward forming a national umbrella organisation. It is hoped that a national strategy will build upon mechanisms already in place for Australia’s rare disease patients, such as the Life Saving Drugs Program, which subsidises access to medicines for very rare, life-threatening conditions. Australia has also recently developed a partnership with rare disease information portal Orphanet. EU rare disease stakeholders are gratified to see that their campaigning efforts for national strategies for rare diseases are spilling over to other parts of the world.
Consult the Lancet article

 
Study provides a glimpse into China’s newborn screening activity in the Zhejiang province
 
An article appearing in the Chinese Medical Journal offers a snapshot of newborn screening activity in the Zhejiang province. According to the authors, almost all provinces in the country offer newborn screening programmes, mostly for congenital hypothyroidism (CH) and phenylketonuria (PKU). In Zhejiang, newborn screening for these conditions was launched in 1999. The authors describe the methods and results of the screening activity. Over 3.8 million babies were screened over a ten year period. Of these, 2309 cases of CH were detected and 155 cases of PKU. Some 454 CH patients successfully underwent therapy with another 93 still undergoing treatment. Some 75% of PKU patients followed long-term diet and/or drug therapy programmes. The development of charity projects has allowed low-income families in the province access to care via the Medical Aid Low-Income Household Youth Fund.
Consult the open access article

 
Data from the Pediatric Cancer Genome Project freely available
 
OrphaNews Europe first reported on the Pediatric Cancer Genome Project (PCGP) between St. Jude Children’s Research Hospital and Washington University School of Medicine (St. Louis) in April 2010. This $US 65 million three-year undertaking will decode the genomes of over 600 paediatric cancer patients and matched non-tumour germline samples. All paediatric cancers are rare diseases. In late May, the PCGP announced the release of comprehensive human cancer genome data for free access by the global scientific community. According to a press release, “The amount of information released more than doubles the volume of high-coverage, whole genome data currently available from all human genome sources combined”. Researchers from around the world can access the sequence data through the Web-based European Genome-Phenome Archive, a repository that allows researchers to explore datasets from numerous genotype experiments, supplied by a range of data providers. St. Jude scientific director and project leader James Downing MD observed that “This effort has generated more discoveries than we thought possible. We want to make this information available to the broader scientific community so that, collectively, we can explore new treatment options for these children. By sharing the information even before we analyze it ourselves, we’re hoping that other researchers can use this rich resource for insights into many other types of diseases in children and adults”. Dr. Downing also remarked that the project revealed pronounced variations between the paediatric and adult cancers, “underscoring the importance of developing therapies specifically for childhood cancers”.
Learn more

 
Stimulating research for rare diseases in Asia
 
An article in BioScience Trends takes a look at research for rare and intractable diseases in Asia and posits that three main elements are necessary for stimulating research for rare diseases: government support; social support; and support from special research initiatives and global information exchange platforms. There is much variation between rare disease policies and resources across Asia, with Japan, South Korea and Taiwan offering specific legislation for rare disease care. Other countries, such as China and the Philippines, are starting to consider how to manage rare diseases in their populations.
Consult the open access article

 
Guidance Documents and Recommendations
 
New patient information leaflets for primary immunodeficiencies now available in English, Spanish and Arabic languages … coming soon in French and Portuguese
 
The International Patient Organisation for Primary Immunodeficiencies (IPOPI) recently released three new patient information leaflets intended to provide helpful guidance on key issues for the Primary Immunodeficiencies patient and stakeholder community. The first leaflet entitled Treatments for Primary Iimmunodeficiencies: a Guide for Patients and their Families provides a description of what primary immunodeficiencies are and what treatment options are available, whilst the second leaflet entitled Stay Healthy! A Guide for Patients and their Families looks at general care aspects such as hygiene, vaccination, travel diet and skin care. The third leaflet is a guide for schools, providing advice on what schools need to know if they have a student with a primary immunodeficiency. All of the leaflets have been designed for an international audience by IPOPI with input from IPOPI’s Board of Directors and Medical Advisory Panel and provide easy-to-read information and advice. They can be accessed for download on the IPOPI website publications page and are also available via the Orphanet website. The leaflets are available in English, Spanish and Arabic languages and additional versions will soon be available, including French and Portuguese.

 
Bioinformatics, Registries and Data Management
 
European registry for Cushing syndrome generating useful data
 
An English-language article appearing in the French medical journal Annales d’Endocrinologie presents the European Registry of Cushing syndrome (Ercusyn), a European Commission-funded registry (from 2007-2010). Cushing syndrome is a rare endocrine disease caused by chronic exposure to hypercortisolism, both exogenous and endogenous. In their article, the authors discuss the characteristics, utility, requirements, and challenges of creating and operating a rare disease registry. The experience of the Ercusyn database is described and qualified as beginning to “generate useful data answering some questions for which it was created”. The authors point out how the academic registry, which was established before a treatment for Cushing syndrome was authorised, may be able to extend its collaboration in order to liaise with an “EMA-regulated, industry-required post-marketing surveillance study, to follow safety and efficacy in the long term outcomes in clinical practice conditions”.
Visit the Ercusyn website

 
Screening and Testing
 
An array of articles in Human Mutation focus on copy number variation detection via diagnostic arrays
 
The June 2012 issue of Human Mutation puts the spotlight on CNV Detection with Diagnostic Arrays with a number of articles including The Use of Arrays to Detect Copy-Number Variations in Clinical Practice; Arrays in Postnatal and Prenatal Diagnosis: An Exploration of the Ethics of Consent; The Introduction of Arrays in Prenatal Diagnosis: A Special Challenge; and Diagnostic Interpretation of Array Data Using Public Databases and Internet Sources. All of the articles are open access.
View the June 2012 Human Mutation Table of Contents

 


 
Ethical, Legal & Social Issues
 

 
Resource allocation for orphan medicinal products and the rule of rescue – developing an ethical framework
 
Two articles in the January-February 2012 Hastings Center Report consider resource allocation for orphan medicinal products within the context of the rule or rescue, a term used in bioethics to describe “the imperative people feel to rescue identifiable individuals facing avoidable death”. Asserting that while the desire to save lives “at any cost” is not easily reconciled with the reality of limited economic resources for health care, there remains a moral instinct to help vulnerable individuals, when possible. With the advent of personalised medicine, the hard decisions around resource allocation for expensive orphan medicinal products become increasingly relevant and will take on larger ramifications in the future.
Consult the Hastings Center Report

 


 
Orphanet News
 
New Texts
 
New texts in the Orphanet Journal of Rare Diseases on cystinuria and Behcet's disease
 
Cystinuria: an inborn cause of urolithiasis
Behcet's disease

 


 
New Syndromes
 

 
Germline ATR mutation in an autosomal dominant cancer syndrome with skin telangiectasia, and mild developmental anomalies of the hair, teeth and nails
 
The authors report on 24 individuals in a five-generation pedigree presenting with a hereditary cancer syndrome manifesting with oropharyngeal, skin, breast or cervical malignancy, skin telangiectasia, and mild developmental anomalies of the hair, teeth and nails. The disease is transmitted in an autosomal dominant manner and a mutation was found in ATR, within the FAT (FRAP, ATM, and TRAPP) domain that can activate p53 expression. No reduction of ATR expression is observed but cultured patients fibroblasts show low p53 levels constitutively and after activation of ATR with hydroxyurea.
Read the PubMed abstract

 
Am J Hum Genet ; 511-517 ; 9 March 2012
 
Infantile cerebellar-retinal degeneration associated with a defect in mitochondrial aconitase
 
The authors studied eight infants from two unrelated families showing between 2 and 6 months of age truncal hypotonia and athetosis, seizure disorder, and ophthalmologic abnormalities, with a course characterized by failure to acquire developmental milestones, culminating in profound psychomotor retardation and progressive visual loss, including optic nerve and retinal atrophy. Imaging reveals progressive, prominent cerebellar atrophy accompanied by thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy. Laboratory studies only exhibit slightly reduced oxidation of glutamate by muscle mitochondria. The authors found a mutation in ACO2 that encodes mitochondrial aconitase. Therefore a defect in this component of the Krebs cycle can result in an infantile neurodegenerative disorder affecting mainly the cerebellum and retina.
Read the PubMed abstract

 
Am J Hum Genet ; 518-523 ; 9 March 2012
 
Bent bone dysplasia-FGFR2 type, a skeletal disorder due to a FGFR2 mutation inducing deficient FGF signaling
 
A new skeletal disorder has been identified in four neonates suffering from sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. These four newborns have a missense FGFR2 mutation absent in available parental DNA from two of the cases and reducing plasma membrane levels of FGFR2 and receptor’s responsiveness to extracellular FGF in chondrocytes. Given that the clinical and genetic findings of these four patients constitute a distinct disorder, the authors designated it as bent bone dysplasia (BBD)-FGFR2 type.
Read the PubMed abstract

 
Am J Hum Genet ; 550-557 ; 9 March 2012
 
Language and behavorial troubles associated with dysmorphic features in patients with mutations involving SOX5
 
The authors report on sixteen cases with common features including prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. Eight of these individuals present with SOX5 mutations and the other eight with larger 12p12 deletions encompassing SOX5. However these patients are affected with various degrees and the phenotypic impact of these mutations seems to be linked with their location and, consequently with the nature and the number of SOX5 protein isoforms whose expression is altered. In addition, haploinsufficiency of SOX5 may be compensated for by SOX6. The authors conclude that “SOX5 appears to be a dosage-sensitive, developmentally important gene”, especially during neurogenesis and chondrogenesis.
Read the PubMed abstract

 
Human Mutation ; 728-740 ; April 2012
 


 
New Genes
 

 
A syndrome of manganese accumulation in liver and brain due to mutation identifying SLC30A10 as a Mn transporter in humans
 
Read the PubMed abstracts
 
Am J Hum Genet ; 457-466 ; 9 March 2012
 
Multicentric carpo-tarsal osteolysis with or without nephropathy is caused by mutations in MAFB known to act in osteoclastogenesis and renal development
 
Read the PubMed abstract
 
To read more about "Multicentric carpo-tarsal osteolysis with or without nephropathy"

 
Am J Hum Genet ; 494-501 ; 9 March 2012
 
Early infantile epileptic encephalopathy: a de novo mutation in the voltage-gated sodium-channel gene SCN8A disturbs sodium current in brain
 
Read the PubMed abstract
 
To read more about "Early infantile epileptic encephalopathy"

 
Am J Hum Genet ; 502-510 ; 9 March 2012
 
Fuchs endothelial corneal dystrophy: mutations in LOXHD1 cause a dominant late-onset form and also impair hearing
 
Read the PubMed abstract
 
To read more about "Fuchs endothelial corneal dystrophy"

 
Am J Hum Genet ; 533-539 ; 9 March 2012
 
Olmsted syndrome: skin lesions due to mutations affecting the ion channel TRPV3 primarily expressed in neuroectodermal tissues
 
Read the PubMed abstract
 
To read more about "Olmsted syndrome"

 
Am J Hum Genet ; 558-564 ; 9 March 2012
 
Coffin-Siris syndrome: important role of mutations of components of the SWI/SNF complex involved in other intellectual deficiencies
 
Read the PubMed abstracts
 
To read more about "Coffin-Siris syndrome"

 
Nat Gen ; 376-378 ; April 2012
Nat Gen ; 379-380 ; April 2012
Am J Hum Genet ; 565-572 ; 9 March 2012
 
Immunodeficiency with natural-killer cell deficiency: first human mutation found in MCM4 encoding a component of a complex involved in DNA replication
 
Read the PubMed abstracts
 
To read more about "Immunodeficiency with natural-killer cell deficiency"

 
J Clin Invest ; 814-820 ; 1 March 2012
J Clin Invest ; 821-832 ; 1 March 2012
 
Kallmann syndrome: SEMA3A deletion validates the role of semaphorin 3A in neuronal control of puberty and olfactory system development
 
Read the PubMed abstract
 
To read more about "Kallmann syndrome"

 
Hum Reprod ; 1460-1465 ; 12 March 2012
 
Familial thrombocytosis: first germline JAK2 mutation reported to cause inherited hematopoietic disease
 
Link to the text via PubMed
 
To read more about "Familial thrombocytosis"

 
N Engl J Med ; 967-969 ; 8 March 2012
 


 
Research in Action
 

 
Fundamental Research
 
Amyotrophic lateral sclerosis: axonal transport deficits are neither necessary nor sufficient to cause axon degeneration in classical mouse models
 
Read the PubMed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
PNAS ; 4296-4301 ; 13 March 2012
 
Neural tube defect: a predisposition in humans and mice with mutations in genes encoding glycine cleavage system disturbs neural tube closure
 
Read the PubMed abstract
 
To read more about "Neural tube defect"

 
Hum Mol Genet ; 1496-1503 ; 1 April 2012
 
Neuroblastoma: a genetic basis including chromothripsis and defects in neuritogenesis genes
 
Read the PubMed abstract
 
To read more about "Neuroblastoma"

 
Nature ; 589-593 ; 22 February 2012
 
Clinical Research
 
Hypophosphatasia: enzyme-replacement therapy with recombinant TNSALP heals skeletal manifestations and improves respiratory and motor functions
 
Read the PubMed abstract
 
To read more about "Hypophosphatasia"

 
N Engl J Med ; 904-913 ; 8 March 2012
 
Cushing disease: cortisol levels significantly reduced in patients with pasireotide, a somatostatin analogue inhibiting corticotropin secretion
 
Read the PubMed abstract
 
To read more about "Cushing disease"

 
N Engl J Med ; 914-24 ; 8 March 2012
 
Rendu-Osler-Weber disease: bevacizumab normalizes cardiac output and reduces severity of epistaxis episodes
 
Read the PubMed abstract
 
To read more about "Rendu-Osler-Weber disease"

 
JAMA ; 948-955 ; 7 March 2012
 
Behcet disease: XOMA 052, an anti IL-1β, induces rapid and durable reduction of intraocular inflammation in patients with resistant uveitis
 
Read the PubMed abstract
 
To read more about "Behcet disease"

 
Ann Rheum Dis ; 563-566 ; April 2012
 
Hairy cell leukemia: fludarabine and rituximab therapy is well tolerated, safe, and effective against relapsed or refractory forms
 
Read the PubMed abstract
 
To read more about "Hairy cell leukemia"

 
Blood ; 1988-1991 ; 1 March 2012
 
MALT lymphoma: excellent long-term clinical outcome after H pylori eradication in patients with gastric mucosa involvement
 
Read the PubMed abstract
 
To read more about "MALT lymphoma"

 
Gut ; 507-513 ; April 2012
 
Tetralogy of Fallot is associated with chromosome 1q21.1 duplications that may involve GJA5 locus encoding a cardiac connexin
 
Read the PubMed abstract
 
To read more about "Tetralogy of Fallot"

 
Hum Mol Genet ; 1513-1520 ; 1 April 2012
 
Gene Therapy
 
Duchenne muscular dystrophy: increasing the amounts of β1D chain in mdx mice decreases damage of muscle fibers
 
Read the PubMed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Hum Mol Genet ; 1592-1603 ; 1 April 2012
 
Proximal spinal muscular atrophy: early intracerebroventricular delivery of morpholino targeting a splice regulator of SMN2 increases survival in mice
 
Read the PubMed abstract
 
To read more about "Proximal spinal muscular atrophy"

 
Hum Mol Genet ; 1625-1638 ; 1 April 2012
 
Steinert myotonic dystrophy: antisense oligonucleotides against the pathogenic RNA reduce toxic transcripts in cell cultures and mouse models
 
Read the PubMed abstract
 
To read more about "Steinert myotonic dystrophy"

 
PNAS ; 4221-4226 ; 13 March 2012
 
Therapeutic Approaches
 
Myasthenia gravis: muscle strength improved by a molecule selectively sensitizing fast skeletal muscle to calcium by binding to its troponin complex
 
Read the PubMed abstract
 
To read more about "Myasthenia gravis"

 
Nat Med ; 452-455 ; March 2012
 
Systemic sclerosis: the organotelluride catalyst (PHTE)2NQ decreases lung and skin fibrosis in mice by modifying the redox state of activated fibroblasts
 
Read the PubMed abstract
 
To read more about "Systemic sclerosis"

 
J Invest Dermatol ; 1125-1132 ; April 2012
 


 
Patient Management and Therapy
 

 
What’s new about membranoproliferative glomerulonephritis?
 
Read the PubMed abstract
 
To read more about "Membranoproliferative glomerulonephritis"

 
N Engl J Med ; 1119-1131 ; 22 March 2012
 
Burkitt lymphoma: an overview comparing diagnosis, management and outcome between low and high-income countries
 
Read the PubMed abstract
 
Lancet ; 1234-1244 ; 31 March 2012
 
An update on the recent advances in acquired epidermolysis bullosa
 
Read the PubMed abstract
 
To read more about "Acquired epidermolysis bullosa"

 
Clin Dermatol ; 60-69 ; January 2012
 


 
Orphan Drugs
 
The number of orphan medicine designations passes the 1000 milestone in Europe
 
The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) has bestowed its 1000 positive opinion in favour of orphan drug designation. This milestone demonstrates the effectiveness of the legal framework in place for supporting research, and encouraging the identification and development of medicinal products for rare diseases. Regulation (EC) No 141/2000 was adopted in December 1999 and came into force in the European Union in the year 2000, offering incentives for the development and marketing of drugs to treat, prevent, or diagnose rare conditions. The Regulation delineates designation criteria, outlines the procedure for designation, and provides incentives for products receiving an orphan designation. The incentives contained in the legislation aim to assist sponsors receiving orphan drug designations in the development of medicinal products with the ultimate goal of providing medicinal products for rare diseases to patients. Of the 1000 designated products, about 70 have thus far gone on to receive marketing authorisation.
Consult the European Commission Community Register of Orphan Medicinal Products

 
Regulatory News
 
First product targeting the underlying cause of cystic fibrosis gets recommendation for marketing approval from the EMA
 
Following review from its Committee for Medicinal Products for Human Use (CHMP), the European Medicines Agency (EMA) has recommended marketing approval for Kalydeco (ivacaftor), an orphan-designated medicine indicated for the treatment of cystic fibrosis in patients age 6 years and older who have a G551D mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. The CHMP reviewed Kalydeco in 150 days under the EMA’s accelerated assessment scheme, a mechanism created to speed up access to new medicines. Kalydeco, from Vertex Pharmaceuticals Ltd (UK), is the first treatment that targets the underlying mechanism of the disease, by restoring the mutated CFTR protein function. Other existing therapies for cystic fibrosis address the consequences of the disease, rather than the cause.
Consult the CHMP Summary of Opinion for Kalydeco

 
Sweet sixteen opinions recommending orphan designation during the COMP's May meeting
 

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

- infection-associated haemolytic uraemic syndrome
- sickle cell disease
- progressive multifocal leukoencephalopathy
- autosomal recessive congenital ichthyosis
- keratinopathic ichthyosis
- X-linked ichthyosis
- neuroblastoma
- retinitis pigmentosa
- Cushing syndrome
- Becker muscular dystrophy
- glioma
- Duchenne muscular dystrophy
- sickle cell disease
- gastric cancer
- hepatocellular carcinoma
- glycogen storage disease type II (Pompe disease)

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

 
Political and Scientific News
 
Using an integrative continuum model to accelerate treatment for rare autoimmune diseases
 
An article appearing in the Annual Review of Pharmacology and Toxicology explores the use of an integrative continuum model to accelerate therapeutic advances in rare autoimmune diseases by “coordinating stakeholders and resources through cultivation and optimization of a network of real-time, idea-sharing partnerships”. The authors confirm that application of this model to rare disorder neuromyelitis optica, an inflammatory demyelinating disease of the central nervous system characterised by attacks of uni- or bilateral optic neuritis and acute myelitis, has “promoted progress in discovery, translation, and clinical momentum”. Such a paradigm could accelerate advances in other rare autoimmune diseases. The authors evoke the “unprecedented convergence of opportunities” currently available to move forward therapies for autoimmune diseases, including: “advances in immunology that reveal molecular and cellular networks and thereby provide increasingly specific potential therapeutic targets; the capacity of informatics to distill wisdom from large databases that hold genomic, proteomic, metabolomic, and clinical meaning; innovations in technology that can help turn laboratory discoveries into safe and effective agents that target specific determinants of disease; expertise in industry and regulatory agencies to effectively steward development and clinical approval of new medications; and increased awareness of the prominent impact that autoimmune diseases have on patients, health care systems, and society”. These factors, taken together and properly harnessed, could transform “suboptimal diagnosis and nonspecific treatment” into “specific and targeted approaches …to prevent, diagnose, treat, and perhaps ultimately cure autoimmune diseases”.
Consult the PubMed abstract

 


 
Courses & Educational Initiatives
 

 
Summer School for Clinical practice guidelines on rare diseases
 
This course, consisting of brief presentations followed by individual or small group exercises, will take the participants through the development process for clinical practice guidelines, covering the following topics: Identify key clinical issues to be included (scope) ; Developing review questions using PICO and PIPOH and planning the systematic review; Identifying the evidence: formulating, executing and documenting a search strategy; Assessing quality of relevant studies, summarize and interpreting the body of evidence to make recommendations; Lack of evidence on guidelines development: formal consensus (Delphi-like method); Appraisal of synthesis documents: guidelines and systematic reviews; and more. The course, offered by the Italian National Centre for Rare Diseases, will be of benefit for guideline developers and health care professionals interested in learning how to use evidence in practice. Dates: 9-11 July 2012. Learn more
 
Epidermolysis Bullosa – An Introduction and Advanced Management courses
 
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

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

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

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

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

 


 
What's on Where?
 

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

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

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

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

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

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

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

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

 
12th International symposium on MPS and related diseases
 
Date: 28 June - 1 July 2012
Venue: Noordwijkerhout, Netherlands

The main topics of the symposium will include musculoskeletal disease and MPS (mucopolysaccharidosis), the brain and MPS, new approaches to treatment, and pricing and reimbursement.
For further details

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

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

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

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

 
7th Annual Rare Disease and Orphan Drug Leadership Congress
 
Date: 18-19 July 2012
Venue: Philadelphia, USA

This commercial event will address FDA/EMA initiatives; Pricing/reimbursement issues; Partnerships with patient advocacy groups; Social media; and more.
For further details

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

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

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

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

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

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

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

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

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

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

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

The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects. The XIIth Biennial Meeting of the International Patient Organisation for Primary Immunodeficiencies (IPOPI) is also being held in partnership with the European Society for Immune Deficiency (ESID), and the International Nurses Group for Immune Deficiency (INGID).
For further details

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

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

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

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

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

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

 
Orphan Drugs & Rare Diseases Conference
 
Date: 8-9 October 2012
Venue: London, UK

This commercial event will present briefings from opinion leaders, including those with hands-on experience of regulating new drug discoveries, companies who have already developed advanced orphan drugs and been granted orphan designation, and selected experts in the field. Speakers will offer insights into expanding the reach of medicine to previously untreatable and unreachable patients with rare diseases; different regulatory and policy environments; new drug discoveries; innovative business strategies and funding models, and the importance of partnerships with patient groups and those at the point-of-care.
For further details

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

 


 
Media, Press & Publications
 

 
Using lysosomal storage disorders as a model for gene therapy approaches for other monogenic diseases
 
A review article published in Acta Paediatrica describes the spectrum of gene therapy techniques and delivery vectors and considers specific approaches for monogenic lysosomal storage disorders. The authors conclude that lysosomal storage disorders represent a good model for studying gene therapy approaches that could be applicable to other Mendelian diseases.
Consult the PubMed abstract

 


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

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP)

Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Helen Michelakakis (Greece), Sandor Janos (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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