20 October 2010 print
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Editorial
 
USA seeks to consolidate its research programme for rare diseases and orphan drugs on eve of workshop with Europe
 
A comprehensive new study, entitled Rare Diseases and Orphan Products: Accelerating Research and Development has been produced by the independent, non-profit Institute of Medicine of the National Academies at the request of the US National Institutes of Health. Offering a detailed overview of the rare disease and orphan drug situation in the United States, with frequent comparisons to Europe and other countries, the document encompasses epidemiology, cause, prevention, diagnostics, treatment, and the impact of rare diseases. The regulatory framework for orphan drugs is delineated, with comparions between the US approach and other countries. In the field of research, the report evaluates target discovery, therapeutics discovery, the infrastructure for basic research and drug discovery for rare diseases, and innovation platforms for target and drug discovery. The authors – comprising a committee of experts from diverse institutions and organisations – consider the development of new therapeutic drugs and biologics, medical devices, and explore issues relating to coverage, reimbursement and various incentives and disincentives for rare disease product development.

For each section of the report, recommendations are put forward. Central to these is the call for a national task force of stakeholders, to be structured similarly to the European model that has been operating since 2004 (now the European Union Committee of Experts on Rare Diseases – EUCERD).




A seven-pronged approach for an integrated national strategy

In the report brief, seven key elements are defined for an integrated national strategy, components of which already exist, but need to be reinforced or elaborated. These elements include: Active involvement and collaboration by a wide range of public and private interests; Timely application of advances in science and technology; Appropriate use and further development of trial design and analytic methods; Creative strategies for sharing research resources and infrastructure to make good and efficient use of scarce funding, expertise, data, biological specimens, and participation in research; Reasonable rewards and incentives for private-sector innovation and prudent use of public resources for product development; Adequate organisation and resources, including staff with expertise on rare diseases research and product development for public funding agencies; and Mechanisms for weighing priorities for rare diseases research and product development, establishing collaborative as well as organisation-specific goals.

In the report preface, Thomas F. Boat, Chairman of the Committee on Accelerating Rare Diseases Research and Orphan Product Development states that “…the committee came to the conclusion that a more coordinated national, and ideally global, effort to plan and begin systematically to implement new strategies for addressing the needs of patients with rare diseases is a timely consideration”.

The hefty exposé comes just in time to brief participants on the state-of-the-art in rare disease and orphan drug research and policies in the USA before the first European Commission-National Institutes of Health workshop meeting convenes in Iceland later this month to discuss “Fostering trans-Atlantic cooperation on rare diseases”. This meeting will bring together top level scientists from academia and industry, regulatory authorities, and patient organisation representatives to develop recommendations for future coordinated activities between the USA and the EU.

Following the release of the report, a Wall Street Journal health blog article queries whether the time has now come for a full-scaled “war” on rare diseases, similar to the “war on cancer” that was launched in the USA in the 1970s. If it is indeed the time for such a war, the development of recent events leads to the conclusion that Europe and America will be fighting shoulder to shoulder on behalf of rare disease patients.
Consult the Institute of Medicine report brief
 


 
Spotlight on...
 
Interview
 
Interview with: Dr. Gabriela Pohla-Gubo, expert in Epidermolysis Bullosa
 
Epidermolysis bullosa (EB) encompasses a group of disorders characterised by recurrent blister formation as the result of structural fragility within the skin and other tissues. All types and subtypes of EB are inherited and rare. EB affects individuals from all ethnic origins and there is no gender predilection. Clinical manifestations range widely, from localised blistering of the hands and feet to generalised blistering of the skin and oral cavity and injury to many internal organs.

In September 2009, the International Epidermolysis Bullosa Research Conference took place in Vienna, Austria, bringing together some 70 experts from 14 different countries to review the latest achievements in research and care for EB. This conference can be viewed as a model, illustrating how rare disease collaboration and cooperation in the field of research and treatment can be organised. Present at the conference was Dr. Gabriela Pohla-Gubo, PhD, a co-founder of patient organisation DEBRA-Austria, Head of the Laboratory for Immunology and Allergology at the Department of Dermatology, General Hospital, Salzburg, and Head of the EB Academy at the EB House Austria.

OrphaNews Europe talks with Dr. Pohla-Gubo about the outcome of the conference and the current state of knowledge and resources for this group of rare diseases:



OrphaNews Europe: The 2009 DEBRA International Epidermolysis Bullosa Research Conference, organised by patient support organisation DEBRA, brought together a large number of specialists from different geographical regions and different areas of expertise. What were the overarching goals of the conference and how does such a conference help to move forward research?

Gabriela Pohla-Gubo: The conference sought to review progress in and barriers to fundamental EB research, and the development of clinical solutions; to consider research aspects of EB not addressed to date; to identify unexplored opportunities and relevant research from complementary areas; and to arrive at a community consensus on research and development priorities. The conference encourages and facilitates researchers to work together to exchange experiences and share knowledge and resources.
(Read a summary of the conference)


OrphaNews Europe: Approximately how many different subtypes of EB have been identified?

Gabriela Pohla-Gubo: There are four primary disease groups: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. Within these groups there are more than 30 clinical pictures, depending on the specific mutation. As a group, EB affects one in 17,000 persons.


OrphaNews Europe: To date, how many genes have been implicated?

Gabriela Pohla-Gubo: There have been 14 genes identified. However, even within the same genotype there can be many different phenotypes, each presenting a different outcome.


OrphaNews Europe: In what percentage of cases is the disease clinically apparent at birth?

Gabriela Pohla-Gubo: All forms are apparent at birth.


OrphaNews Europe: In general, what is the prognosis for this group of diseases?

Gabriela Pohla-Gubo: It all depends on the form. For example, the Herlitz type of junctional EB typically ends in mortality at age one or two years. Patients usually die from sequelae like sepsis or cancer. The recessive dystrophic EB usually results in a very aggressive form of squamous cell carcinoma and patients usually die around age forty.


OrphaNews Europe: Can you discuss pain management?

Gabriela Pohla-Gubo: Pain management is a major part of clinical treatment. The blisters are very painful – especially when they occur in the mouth, the eyes or the oesophagus, for example. Changing the dressings is also a very painful procedure and can take up to three hours. The dressings are typically changed by parents – who are taught how to do this, and who make the best nurses for the patients.

Itching is also a very severe problem. Some patients are unable to sleep because the itching is so distracting and common itching drugs are less effective. Additionally, there can be digestion and malnutrition problems when children are unable to swallow due to painful constriction of the oesophagus caused by blisters and scars.


OrphaNews Europe: Can you comment on some of the therapeutic options under development? Which seem most promising at this time?

Gabriela Pohla-Gubo: One treatment that has demonstrated proof-of-principle is a grafting approach using an ex vivo gene therapy. Such a treatment was performed in 2006 on one patient in Italy who has junctional EB due to a laminin 332 gene mutation. To date (four years later) the grafted skin areas continue to express sufficient functional laminin. This therapeutic approach is indicated for certain severe wounds that do not heal and are long-lasting. It is particularly important as such wounds often become cancerous. Austria is currently petitioning regulators to conduct a similar trial on a patient and our hope is to move forward in the near future.


OrphaNews Europe: Compared to other rare diseases, would you say there is much interest on the part of the biopharmaceutical industry in developing treatments for this group of diseases?

Gabriela Pohla-Gubo: Not really at this time. Some small trials are underway for the less severe dominant forms of EB involving small interfering RNAs that could potentially be used in creams.


OrphaNews Europe: Can you describe the Epidermolysis Bullosa House Austria?

Gabriela Pohla-Gubo: The EB House was created five years ago by patient organisation DEBRA Austria in collaboration with physicians and other professionals. It is a model for a centre of expertise and we fulfil the criteria set out by the European Commission's Rare Disease Task Force for such a centre. We have developed a state-of-the-art clinical centre, a research centre, and an academy in order to teach families and professionals. We hope to become an official centre of expertise, though we do not yet have legal recognition as such. We are unique in Europe – there are other EB specialist centres, but they do not offer all three of the elements that we do.

Our centre has two specialised doctors and two specialised nurses. As most EB patients live at home, we offer education for families – some of whom come for a full day of training and information. Physicians from abroad are also invited to come and learn. We have also had patients from 15 different countries to date. This has been very positive, though there have been some problems with reimbursement. Patients from the EU countries are asked to bring an E112 form for reimbursement. This form is specifically for patients with a known disorder.

Another thing we would like to do is create a European registry. Austria has had a registry for more than ten years. We have 300 patients in our registry, of whom one hundred come from abroad. We experience a good level of cooperation from local physicians as well as patients and families living abroad.

Read the full interview with Gabriela Pohla-Gubo

 


 
EU Policy News
 
Cross-border healthcare position adopted by EU Council
 
On 13 September, the Council of the European Union issued a press release announcing the adoption of its first-reading position on a draft directive for cross-border healthcare. The directive concerns the application of patient rights in cross-border healthcare and seeks to eliminate obstacles hindering patients from seeking treatment in another Member State. The directive also clarifies patient rights to reimbursement for treatment obtained abroad. The directive has no impact on the rights of each Member State to determine which health benefits they will provide. Thus, if a particular treatment is not reimbursed in a patient’s home country, it will not be reimbursed if accessed in another Member State. The Council position, which contains several provisions, “…reflects the Council's intention to fully respect the case law of the European Court of Justice on the patients' rights in cross-border healthcare while preserving member states' rights to organise their own healthcare systems”. One such provision seeks to “limit the application of the rules on reimbursement” by permitting Member States (MS) to demand a prior authorisation” for certain care. This provision was created to avoid the risk “of seriously undermining the financial balance of a social security system”. Another provision, relevant in the field of rare diseases, concerns strengthening the cooperation between MS through the development of European reference networks “which will bring together, on a voluntary basis, specialised centres in different member states”. Other provisions concern specifics to the issues of access, reimbursement and the recognition of prescriptions issued outside a patient’s MS. The Council Position now passes to the European Parliament for its second reading.
Consult the Council of the European Union press release
Consult the Position of the Council at first reading

 
DG Enterprise
 
New process for corporate responsibility in the field of pharmaceuticals will consider coordinated access to orphan drugs
 
The Directorate General of Enterprise and Industry has announced the launch of a process on corporate responsibility in the pharmaceutical industry. Three separate platforms: ethics and transparency; access to medicines in Africa; and access to medicines in Europe will “examine the major challenges of access to medicines in Europe and Africa in the light of the issues of price and reimbursement.” A number of projects will be created – including one on the Mechanism of coordinated access to orphan medicinal products. For this project, “Members will be invited to develop the concept of a coordinated access to orphan medicinal products based on the set up of programmes between companies and groups of competent authorities and results of the ongoing project on a mechanism for clinical added value on orphan medicinal products. A pilot project could be set up in a second stage”. Other projects that could be relevant to the field of rare diseases include one on capacity building on contractual agreements for innovative medicines and another on facilitating the supply in small countries. A number of stakeholder organisations will be invited to take part in the platform, including the European Patients Forum, the European Hospital and Healthcare Federation, the European Federation of Pharmaceutical Industries and Associations, and EuropaBio. In a press release, Commission Vice President Antonio Tajani stated that it is time “to launch a specific consultation at European level in [the pharmaceutical sector] so that commercial imperatives can be combined with the needs of society".
Consult the press release
Additional information

 
EMA
 
First orphan designation review document made public
 
In mid-September, the European Medicines Agency (EMA) announced that it had published its first “Review of Orphan Designation” documents. Designed to “… summarise the review of the orphan designation carried out by the Committee for Orphan Medicinal Products (COMP) whenever an orphan medicine reaches marketing authorisation …the review is carried out to check that the criteria underpinning the medicine’s orphan designation still apply”. The first published review document is for the product Vpriv (velaglucerase alfa), which received marketing authorisation in late August of this year for the treatment of Gaucher disease. As part of the its effort to enhance transparency of the orphan designation process, the EMA intends to publish a review document for each orphan-designated product at the time marketing authorisation is granted, as well as for all approved extensions of indication for orphan-designated products already on the market.
Consult the review of orphan designation for Vpriv

 
EMA and FDA extend confidentiality arrangements indefinitely
 
The European Medicines Agency (EMA) and the U.S. Food and Drug Administration (FDA) announced the extension of their confidentiality arrangements related to medicinal products “…following the positive experience gained since the initial arrangements were signed in September 2003”. Thus the cooperation between the two Agencies will “…continue indefinitely without the need for further renewal”. Under the agreement, both the EMA and the FDA can exchange confidential information pertaining to scientific advice, orphan drug designation, paediatric development, good manufacturing practice and good clinical practice inspection planning and reports, marketing authorisation procedures and subsequent changes to the marketing authorisations together with post-marketing surveillance as part of their regulatory and scientific processes. The agreement extends to medicines that are authorised at the national level by individual EU Member States, as well as those undergoing the centralised process. The extension is considered good news by the rare disease community, which counts on international cooperation to bring treatments to patients.
Learn more

 


 
National & International Policy Developments
 
Croatia's first national rare disease conference explores a national strategy
 

The first Croatian National Conference on Rare Disorders was held in Dubrovnik between 17-19 September. Organised by the Croatian Association for Rare Disorders, under the auspices of the President of the Republic of Croatia Ivo Josipovic, and in collaboration with European rare disease patient umbrella organisation Eurordis, the conference sought to bring together patients, their families, association members and multidisciplinary specialists in order to prepare the framework for a national plan for rare diseases (RD) and establish priorities in the field. The conference also provided an opportunity to discuss the problems faced by patients in terms of health and social services. Croatia is the only country outside of the European Union given the opportunity to organise such a meeting in the context of the EUROPLAN project. Some 180 patients from 15 patient organisations were present, accompanied by health professionals, specialists in rare disorders, and members of the Ministry of Health and Social Affairs, the Croatian Institute for Health Insurance, the Agency for Quality and Accreditation, the Agency for Drugs and Medical Products, the Agency for Education, as well as representatives from the biopharmaceutical industry (Pfizer, Roche, Medis Adria, Genzyme, Solpharm, and G.M Pharma). Other invitees included Dr Gabriela Pohla Gubo from the Austrian Debra House (see the article in this issue), and representatives from eight rare disease patient organisations from the Republic of Slovenia, Bosnia and Herzegovina, and Serbia, all of whom are interested in further collaboration with the Croatian Association for Rare Disorders. The conference programme was conducted through six workshops: Methodology for the development of a national plan for rare diseases); Patient empowerment; Standards in health care for patients; Definition, coding and registration of RD; Research on RD; and Patient rights in social services. Issues such as marginalisation in the health care system, obstacles in social care, critical lack of information and support, access to a multidisciplinary team of experts, delays in diagnosis, the prescription and financing of orphan drugs, dietary requirements, financial problems and other specific issues were amongst the topics featured. There was general agreement amongst participants upon the priority topics to be included in a National Plan and a post-conference questionnaire revealed overall satisfaction with the event. The local media, including television, added visibility to the conference and to the issues rare disease patients and their families face in Croatia.

 
UK seeks feedback on rare disease strategy consultation document
 
In November 2008, Rare Disease UK, an alliance involving patients, clinicians, government, industry and researchers, launched in the UK to “campaign for the adoption and implementation of national plans in each of the UK’s home nations” (England, Scotland, Wales and Northern Ireland). This past year, the five Working Groups of Rare Disease UK have been busy creating a report for the development of recommendations for the elements to include in a strategy for rare diseases. A consultation document on the initial findings of the Working Groups has now been released. Rare Disease UK seeks feedback on this document from all relevant stakeholders located inside or outside of the UK. The deadline for responding is 29 October 2010.
Consult the rare disease strategy document

 
Spain creates rare disease protocol for the primary care clinic
 
An online protocol for the primary care of patients with rare diseases was presented on 18 July at the national congress of the Spanish Society of Family and Community Medicine in Valencia. The protocol, Protocolo Dice de Atencion Primaria de Enfermedades Raras (DICE-APER) was created by the society’s working group on Clinical Genetics and Rare Diseases, in collaboration with government health agency Instituto de Salud Carlos III, Spanish rare disease patient umbrella organisation FEDER, and the National Reference Care Centre for People with Rare Diseases and their Families (CREER). The specific objectives of the protocol are:
  • Diagnosis (D): Identifying patients with a rare disease diagnosis for an identified disorder and other conditions
  • Information (I): Providing basic information and support to patients, based on existing resources from patient organisations and the government
  • Coordination (C): Contribute to the coordination between primary care doctors and specialists
  • Epidemiology (E): Provide information to the government on the dimensions of the rare disease problem, promoting the rare disease patient registry as well as the biobank

  • The contact person for the protocol is Dr. Miguel García Ribes, coordinator for the working group on Clinical Genetics and Rare Diseases of the Spanish Society of Family and Community Medicine. Learn more

     
    Other European news
     
    European Congress of Pediatric Anesthesiology considers the case of rare diseases
     
    The Second Congress of the European Society for Paediatric Aanesthesiology held in Berlin, Germany, last month devoted an entire session to rare diseases. Amongst the topics presented were the Anaesthetic management of a child with a rare disease; Approaches to rare diseases at the national and European levels; and the OrphanAnaesthesia project. This latter, currently under development, involves a collaboration with Orphanet to publish specially developed anaesthesiology recommendations for specific rare diseases. The first recommendation is scheduled to launch in January.
     


     
    Ethical, Legal & Social Issues
     

     
    Norwegian study finds lack of evidence of societal preference for rare disease drug costs
     
    An open-access article appearing in the British Medical Journal depicts the attitudes in Norway toward orphan drug funding, finding that “despite strong general support for statements expressing a desire for equal treatment rights for patients with rare diseases, there was little evidence that a societal preference for rarity exists if treatment of patients with rare diseases is at the expense of treatment of those with common diseases”. The authors, working from the premises that “drugs for rare diseases (orphan drugs) seldom meet standard cost effectiveness thresholds used to evaluate new drugs [and that] some studies suggest that only a societal preference for rarity would justify granting exceptions to cost effectiveness thresholds for orphan drugs”, sought to determine whether a preference for rarity justified ignoring considerations of cost-effectiveness. Using a cross-sectional web-based survey, over 1500 Norwegians between the ages of 40 and 57 were queried on their opinions toward funding for rare versus common diseases and the allocation of funds when rare disease treatments were costlier. The authors conclude that there exists, “…little compelling evidence … to support the existence of a societal preference for rarity in itself, a finding that supports the view that treatments for rare disease should not be exempt from standard considerations of cost effectiveness.” However, the authors point out that there could be “unexplored ethical reasons” that would support a special funding status for orphan drugs. Furthermore, the authors concede that “…majority opinion is not necessarily a good measure of what is ethical”. Consult the PubMed abstract
     


     
    EU Project Follow-up
     
    Hot off the press – the first BIO-NMD project patient-focused newsletter!
     

    BIO-NMD is an EU-funded translational research project dedicated to the discovery and validation of biomarkers in muscle dystrophies – particularly Duchenne and Becker muscular dystrophies and collagen VI myopathies - with the aim of improving disease and therapy monitoring. With twelve partners from seven European countries, the project, closely linked to Network of Excellence TREAT-NMD, will run through the end of 2012. The project has just issued its first patient-focused newsletter. This debut issue presents an overview of the BIO-NMD project as well as a feature article on ethical considerations in biobanking and a calendar of upcoming events.
    Consult the first BIO-NMD newsletter

     


     
    New Syndromes
     

     
    An autoinflammatory syndrome with joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
     
    The authors report two males and one female patient with an autosomal recessive syndrome presenting with childhood-onset lipodystrophy, muscle atrophy, severe joint contractures, erythematous skin lesions, and microcytic anemia. Other variable clinical features include hypergammaglobulinemia, hepatosplenomegaly, generalised seizures, and basal ganglia calcification. None of the patients had diabetes mellitus or acanthosis nigricans. Two had mild hypertriglyceridemia and all had low levels of high-density lipoprotein cholesterol. Skin biopsy of an erythematous nodular skin lesion from one of the patients revealed evidence of panniculitis. The lipodystrophy initially affected the upper body but later became generalised involving abdomen and lower extremities as well. The molecular genetic basis of this disorder remains to be elucidated.
    Read the PubMed abstract

     
    J Clin Endocrinol Metab. ; E58-63 ; September 2010
     
    Acute infantile encephalopathy predominantly affecting the frontal lobe: a new case in a European child
     
    Acute infantile encephalopathy predominantly affecting the frontal lobes (AIEF) has been described as a new entity, based on MRI findings (acute abnormal diffusion-weighted imaging signals in the frontal lobes followed by atrophy) and exclusion of other acute encephalopathies. Patients present with acute onset of fever, status epilepticus, and coma. Different causal mechanisms have been suggested such as localized viral infection, toxic insult due to cytokines, or postictal damage. Only children of Japanese descent have been described. The authors report the case of a European girl whose history and MRI findings were similar to the Japanese cases. She had a massive regression with verbal apraxia, while cognitive development was less affected; she initially presented with a cluster of complex partial seizures (and not convulsive status epilepticus), making epileptic or post anoxic-ischemic sequelae highly unlikely. The place of this proposed entity among other recently described acute encephalopathies with abnormal diffusion on MRI is discussed.
    Read the PubMed abstract

     
    Eur J Paediatr Neurol ; Epub ahead of print ; 31 August 2010
     


     
    New Genes
     
    New genes reported in the literature ...
     


     
    Leigh syndrome: C20orf7 mutations identified as a cause of defective complex I assembly
     
    Read the PubMed abstract
     
    To read more about "Leigh syndrome"

     
    J Med Genet ; 507-512 ; August 2010
     
    Marshall-Smith syndrome or Sotos-like syndrome: NFIX mutations trigger distinct phenotypes
     
    Read the PubMed abstract
     
    To read more about "Sotos syndrome"
    To read more about "Marshall-Smith syndrome"

     
    Am J Hum Genet ; 189-198 ; 13 August 2010
     


     
    Research in Action
     

     
    Fundamental Research
     
    Facioscapulohumeral muscular dystrophy: a unifying genetic model explains the implication of DUX4 in pathogenesis
     
    Read the PubMed abstract
     
    To read more about "Facioscapulohumeral dystrophy"

     
    Science ; 1650-1653 ; 24 September 2010
     
    Amyotrophic lateral sclerosis: ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk
     
    Read the PubMed abstract
     
    To read more about "Amyotrophic lateral sclerosis"

     
    Nature ; 1069-1075 ; 26 August 2010
     
    Clinical Research
     
    Craniosynostosis: prevalence and complications in single-gene and chromosomal disorders
     
    The authors describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. Of 84 children with either single gene mutations or chromosomal abnormalities, repeat craniofacial surgery was required for 58% of those with single-gene mutations, but only 17% of those with chromosomal abnormalities. Clinical genetic assessment is critical for the treatment of children with craniosynostosis. Genetic testing of nonsyndromic cases should be targeted to patients with coronal or multisuture synostoses.
    Read the PubMed abstract

     
    To read more about "Craniosynostosis"

     
    Pediatrics ; e391-400 ; August 2010
     
    Risk for PHACE syndrome in infants with large facial hemangiomas
     
    This multicentric prospective study involving 108 infants sought to determine the prevalence of posterior fossae of the brain, arterial anomalies, cardiac anomalies, and eye anomalies (PHACE) in infants with large facial hemangiomas. The extracutaneous manifestations of PHACE may be associated with significant morbidity, and the prevalence of PHACE in patients with facial hemangiomas has not previously been reported. Results revealed that in infants with large facial hemangiomas, one-third have extracutaneous manifestations consistent with the diagnosis of PHACE syndrome, most commonly cerebrovascular and cardiovascular anomalies. The high prevalence of arterial anomalies in this cohort has implications for clinical management and future research regarding the pathophysiology of PHACE.
    Read the PubMed abstract

     
    To read more about "PHACE syndrome"

     
    Pediatrics ; e418-426 ; August 2010
     
    Dystrophic epidermolysis bullosa: c.6527insC mutation in the COL7A1 gene recurrent in Spanish cohort
     
    Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in the COL7A1 gene. The clinical manifestations are highly variable from nail dystrophy to life-threatening blistering, making early molecular diagnosis and prognosis of utmost importance for the affected families. In a Spanish cohort of 49 patients, the pathogenic mutation c.6527insC accounted for 46.3% of recessive DEB alleles. A consistent genotype-phenotype correlation was established.
    Read the PubMed abstract

     
    To read more about "Dystrophic epidermolysis bullosa"

     
    Br J Dermatol ; 155-161 ; July 2010
     
    Acromegaly: evidence of cognitive and neurophysiological impairment in patients with untreated naive form
     
    To explore whether GH/IGF-I excess in naive patients with acromegaly alters cognitive functions, particularly memory, and whether these alterations are accompanied by neurophysiological correlates, the authors conducted a comprehensive neuropsychological and neurophysiological exam on 16 naive acromegaly patients and 16 strictly matched healthy controls. Results provide evidence of cognitive and neurophysiological impairment, characterised by moderate-to-severe memory impairment and decreased neural activity in specific brain areas. High levels of GH and IGF-I in acromegaly patients could be the basis for these findings.
    Read the PubMed abstract

     
    To read more about "Acromegaly"

     
    J Clin Endocrinol Metab ; 4367-4379 ; September 2010
     
    Tetralogy of Fallot: a multi-institutional study of arrhythmia burden in surgically repaired adult patients
     
    The authors conducted a multicenter cross-sectional study to quantify the arrhythmia burden in tetralogy of Fallot, to characterise age-related trends, and to identify associated factors. A total of 556 patients were recruited from 11 centres. Overall, 43.3% had a sustained arrhythmia or arrhythmia intervention. Prevalence of atrial tachyarrhythmias was 20.1%. Age, lower left ventricular ejection fraction, left atrial dilation, and number of cardiac surgeries were jointly associated with atrial fibrillation. Atrial fibrillation and ventricular arrhythmias appear to be influenced more by left- than right-sided heart disease.
    Read the PubMed abstract

     
    To read more about "Tetralogy of Fallot"

     
    Circulation ; 868-875 ; 31 August 2010
     
    Stem Cells
     
    New European Science Foundation brief reviews the state-of-the-art in stem cell research
     
    The European Science Foundation (ESF) earlier this year published the document Human Stem Cell Research and Regenerative Medicine - A European Perspective on Scientific, Ethical and Legal Issues. This Science Policy Briefing brings up to date a 2002 document entitled Human Stem Cell Research: Scientific Uncertainties and Ethical Dilemmas by detailing the advances made in this rapidly evolving field. The new document considers foetal stem cells; human embryonic stem cells; adult- and tissue-derived stem cells and looks at the current state of clinical applications. Ethical and legal issues are considered in the contexts of research, patients, transplants, private industry, patents, access to therapy and legislation throughout Europe. Finally, a High-Level Expert Group established by the European Medical Research Councils (EMRC) at the ESF puts forward specific recommendations “intended to stimulate continuing efforts by relevant stakeholders to ensure that stem cell research is developed into regenerative medicine applications and other benefits for patients, while at the same time ensuring that the research is conducted in accordance with accepted principles of research ethics”. In Europe, over a dozen stem cell-based products have received designation. Stem cell treatments are under development internationally for several rare diseases – including amyotrophic lateral sclerosis, proximal spinal muscular atrophy, chronic granulomatous disease and Huntington disease.
    Consult the ESF Brief on human stem cell research and medicine

     
    Gene Therapy
     
    Haemophilia B: Factor IX ectopically expressed in platelets corrects the phenotype in mice models
     
    The authors developed 2bF9 transgenic mice in a haemophilia B mouse model with the expression of human factor IX (FIX) under control of the platelet-specific integrin alphaIIb promoter, to determine whether ectopically expressing FIX in megakaryocytes can enable the storage of FIX in platelet alpha-granules and correct the murine haemophilia B phenotype. FIX was detected in the platelets and plasma of 2bF9 transgenic mice by both antigen and activity assays. All 2bF9 transgenic mice survived tail clipping, suggesting that platelet-derived FIX normalises haemostasis in the haemophilia B mouse model. This study suggests that targeting FIX expression to platelets could be a new gene therapy strategy for haemophilia B.
    Read the PubMed abstract

     
    To read more about "Hemophilia B"

     
    Blood ; 1235-1243 ; 26 August 2010
     
    Therapeutic Approaches
     


     
    Pompe disease: systemic follistatin stimulates muscle repair and improves motor function in younger mice models
     
    Due to the lack of acid alpha-glucosidase (GAA) activity, Pompe mice develop glycogen storage pathology and progressive skeletal muscle dysfunction with age. Applying either gene or enzyme therapy to reconstitute GAA levels in older, symptomatic Pompe mice effectively reduces glycogen storage in skeletal muscle but provides only modest improvements in motor function. Administration of a recombinant adeno-associated virus serotype 8 vector encoding follistatin, an inhibitor of myostatin, increased muscle mass and strength, but only in Pompe mice that were treated before 10 months of age. Furthermore, adjunctive therapies may not be effective without first clearing skeletal muscle glycogen storage with GAA.
    Read the PubMed abstract

     
    To read more about "Glycogen storage disease type 2"

     
    Mol Ther ; 1584-1591 ; September 2010
     
    Recessive dystrophic epidermolysis bullosa: bone marrow transplantation in six patients increased C7 deposition
     
    Between October 2007 and August 2009, the authors treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. Increased C7 deposition at the dermal-epidermal junction was observed in five of the six recipients, albeit without normalisation of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies.
    Read the PubMed abstract

     
    To read more about "Dystrophic epidermolysis bullosa"

     
    N Engl J Med ; 629-639 ; 12 August 2010
     


     
    Patient Management and Therapy
     


     
    Lymphangioleiomyomatosis: the ERS takes a rational approach to producing guidelines for this rare disease
     
    Lymphangioleiomyomatosis (LAM) is a rare lung disease which predominantly affects young women. LAM is associated with much morbidity and can lead to respiratory failure and death unless lung transplantation is performed. There are no randomised trials of treatment and no consensus on the management of LAM. In order to produce guidelines for a rare disease where little evidence exists the European Respiratory Society has adapted existing guideline methodology to evaluate what evidence and knowledge there is to produce a consensus based statement. The process of guideline development comprised forming a group of experts in LAM and related fields including pathology, radiology, tuberous sclerosis and transplantation. Questions were formulated and the available evidence formed into a series of recommendations. The guidelines describe the diagnostic criteria for LAM and recommended investigations and criteria for the diagnosis and appropriate work up for the diagnosis of LAM. All aspects of management from advice for patients to lung transplantation are discussed. It is hoped that these guidelines will result in standardisation of diagnostic criteria and patient management which will further improve clinical care and facilitate research and clinical trials.
    Read the PubMed abstract

     
    To read more about "Lymphangioleiomyomatosis"

     
    Respir Med ; Suppl 1: S33-41 ; July 2010
     
    Hodgkin lymphoma: reduced treatment intensity in early-stage patients
     
    To determine whether it is possible to reduce the intensity of treatment in early (stage I or II) Hodgkin lymphoma with a favourable prognosis, the authors conducted a multicenter, randomised trial involving 1370 patients, comparing four treatment groups consisting of a combination chemotherapy regimen of two different intensities followed by involved-field radiation therapy at two different dose levels. In patients with early-stage Hodgkin lymphoma and a favourable prognosis, treatment with two cycles of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) followed by 20 Gy of involved-field radiation therapy is as effective as, and less toxic than, four cycles of ABVD followed by 30 Gy of involved-field radiation therapy. Long-term effects of these treatments have not yet been fully assessed.
    Read the PubMed abstract

     
    To read more about "Hodgkin lymphoma"

     
    N Engl J Med ; 640-652 ; 12 August 2010
     
    Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline
     
    The Endocrine Society has developed clinical practice guidelines for congenital adrenal hyperplasia (CAH). Amongst the recommendations, the authors advise universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. They recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. They recommend against the routine use of experimental therapies to promote growth and delay puberty; they suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilised girls, performed by experienced surgeons. Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, monitoring for potential complications of CAH is advised. Finally, the authors recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.
    Read the PubMed abstract

     
    To read more about "Congenital adrenal hyperplasia"

     
    J Clin Endocrinol Metab ; 4133-4160 ; September 2010
     
    Hereditary angioedema: international consensus algorithm for the diagnosis, therapy and management has been updated
     
    The Canadian Hereditary Angioedema Network and cosponsors University of Calgary and the Canadian Society of Allergy and Clinical Immunology held their third conference in Toronto, Canada earlier this year to update their consensus approach. The Consensus document was reviewed at the meeting and then circulated for review. The authors conceded that the consensus approach is only an interim guide for the complex disorder of hereditary angioedema (HAE) and should be replaced as soon as possible with large phase III and IV clinical trials, meta analyses, database registry validation of approaches including quality of life and cost benefit analyses, followed by large head-to-head clinical trials and then evidence-based guidelines and standards for HAE disease management.
    Read the PubMed abstract

     
    To read more about "Hereditary angioedema"

     
    Allergy Asthma Clin Immunol ; 24 ; 28 July 2010
     
    Hereditary angioedema: trials for three separate treatments reported in the literature
     
    Three different studies have been published in the New England Journal of Medecine, reporting results of trials for nanofiltered C1 inhibitor concentrate, ecallantide, Icatibant (a selective bradykinin B2 receptor antagonist) – all potential treatments for acute attacks of hereditary angioedema.
    Read the first PubMed abstract
    Read the second PubMed abstract
    Read the third PubMed abstract

     
    To read more about "Hereditary angioedema"

     
    N Engl J Med ; 513-522 ; 5 August 2010
    N Engl J Med ; 523-531 ; 5 August 2010
    N Engl J Med ; 532-541 ; 5 August 2010

     


     
    Orphan Drugs
     
    Making hard choices: managing the increasing number of orphan drugs
     
    The Editorial of the 22 September British Medical Journal asks, “Is it time to revisit orphan drug policies?” Citing the growing number of new treatments for rare diseases emerging in response to the orphan drug incentive programmes both in Europe and the USA, the authors evoke the “…substantial challenge for healthcare systems because the prices charged for these drugs make it impossible for them to meet conventional measures of good value”. The article points out that the assumption that society values “equal opportunity for people with rare and common conditions” is not based on “robust evidence”. Thus, citing the results from a Norwegian survey appearing in the same issue (see the article in this issue), along with two citizen juries held in Canada, the authors contend that, “the current model of developing and funding orphan drugs is not fit for purpose if it cannot deliver treatments at a price that healthcare systems can afford”. Whether or not the model used for neglected diseases, in which public-private partnerships produce “superior development timelines and greater cost efficiency than purely public or private endeavours” can be successfully adapted to rare disease treatments for developed countries, the authors assert that “a fundamental change in the funding model will probably be needed” for orphan drugs and that decision makers will face some “hard choices” when it comes to funding rare disease treatments.
    Consult the PubMed abstract

     


     
    Positive opinion adopted at the September CHMP meeting for the treatment of chronic pulmonary infection in cystic fibrosis
     
    At the September meeting for the EMA’s Committee for Medicinal Products for Human Use (CHMP), one orphan drug product received a positive opinion for marketing authorisation: TOBI Podhaler (tobramycin), from Novartis Europharm Ltd, is intended for the suppressive therapy of chronic pulmonary infection due to Pseudomonas aeruginosa in adults and children aged 6 years and older with cystic fibrosis.

    Two applications for extensions of therapeutic indications also received position opinions, one for Mabthera (rituximab), from Roche Registration Ltd, to include the treatment of follicular lymphoma patients responding to induction therapy; and the other for Tasigna (nilotinib), from Novartis Europharm Ltd, to include the treatment of adult patients with newly diagnosed Philadelphia chromosome-positive chronic myelogenous leukaemia in the chronic phase.

     
    Fourteen new orphan designations from the COMP in September ... and another 15 in October
     
    The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 14 positive opinions issued at the September 2010 COMP meeting for the treatment of:

    - behavioural variant frontotemporal dementia
    - progressive non-fluent aphasia
    - frontotemporal dementia with parkinsonism-17
    - graft-versus-host disease
    - von Willebrand disease
    - postcardiotomy right ventricular failure
    - idiopathic pulmonary fibrosis
    - progressive supranuclear palsy
    - gastric cancer
    - pancreatic cancer
    - post-polycythaemia vera myelofibrosis
    - post-essential thrombocythaemia myelofibrosis
    - Duchenne muscular dystrophy
    - metachromatic leukodystrophy

    The COMP adopted 15 positive opinions issued at its October 2010 meeting for the treatment of:

    - colchicine poisoning
    - tuberculosis
    - familial chylomicronaemia
    - ovarian cancer
    - glioma
    - rhodopsin-linked retinitis pigmentosa
    - hyperargininaemia
    - argininosuccinic aciduria
    - citrullinaemia type 1
    - carbamoyl-phosphate synthetase-1 deficiency
    - Fanconi anaemia type A
    - acute myeloid leukaemia
    - lysosomal acid lipase deficiency
    - gastric cancer
    - prevention of recurrent hepatitis C in liver transplant recipients
    Consult the European Register of Designated Orphan Medicinal Products
    Consult the Orphanet list of orphan drugs authorised for marketing in Europe

     


     
    Grants
     
    Third Myotubular Trust call for proposals – now open to international participation
     
    The Myotubular Trust was founded as a charity in 2006 to raise money for research toward a cure and/or treatment for myotubular myopathy. There are three genetically distinct forms of myotubular myopathy. The most common and severe form is x-linked. It usually presents in the newborn period and is characterised by breathing and swallowing difficulties in addition to general muscle weakness. The other forms, either dominant or recessive in inheritance, are usually milder and vary widely.

    The Myotubular Trust announces its third call for proposals for projects that will help find a cure and/or a treatment for any of the three types of myotubular myopathy, focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally. Applications may be made for:
    1. Project grants - Applications will be considered from the Principal Investigator for projects of 2-3 years duration to be carried out by a Post Doctoral researcher, or PHD student
    2. A Myotubular Trust fellowship - Applicants will have identified a host institution and will be undertaking a basic science project of 3-4 years duration.

    The Motubular Trust encourages the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and or different research institutions. Applications which involve joint funding with other organisations will be considered.
    Completed applications will be due by close of business on 14 January 2011. Awards will likely be made in May-June 2011. Interested parties should visit the Myotubular Trust website for further guidance and the application form.

     


     
    Courses & Educational Initiatives
     

     
    Rare Solid Cancers: An Introduction
     
    Organised by the European School of Oncology in collaboration with the Rare Care project. This course, being held in Stresa, Italy from 31 March – 1 April 2011, will focus on all the main rare solid cancers of the adult. Rare cancers present particular challenges, such as organisation of care and methodology of clinical studies. Oncologists, epidemiologists and health administrators will particularly find this course useful.
    For further details

     
    European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
     
    This ten-day course held in February/March each year is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organised by the European Cytogeneticists Association and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. 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

     
    Orphan Europe Academy
     
    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

     


     
    What's on Where?
     

     
    Future Direction for Orphan Drugs in Europe
     
    Date: 3 November 2010
    Venue: Le Mesnil Amelot (Paris region), France

    This first conference on orphan drugs from the neutral, non-profit, global, professional Drug Information Association will reflect on the experience gained in the first 10 years of the European Orphan Medicinal Products Regulation. It will review current developments in orphan drug research, look at points of collaboration between regulatory and HTA bodies and provide an outlook on future developments.
    For further details

     
    2nd Health Technology Assessment (HTA) Conference
     
    Date: 4 November 2010
    Venue: Le Mesnil Amelot (Paris region), France

    The 2nd DIA Health Technology Assessment Conference is immediately following the DIA Future Direction for Orphan Drugs in Europe Conference on 3 November. The first half day of the HTA Conference continue the discussion on Orphan Drugs. Delegates are encouraged to register for both conferences to take advantage of valuable crossover sessions.
    For further details

     
    Pemphigus & Pemphigoid: From the Bench to the Bedside
     
    Date: 5-6 November 2010
    Venue: Bethesda, Maryland, USA

    The meeting will bring together physicians and scientists interested in these diseases to meet face-to-face and facilitate interactions. The goal is to identify areas of research opportunity that will promote understanding of the causes and provide experimental and clinical justification for novel treatments of pemphigus and pemphigoid.
    For further details

     
    First International Conference of Human Genetics and Genome Research Division
     
    Date: 8-10 November 2010
    Venue: Cairo, Egypt

    Main topics include monogenic disorders, clinical genetics and dysmorphology, cytogenetics and molecular cytogenetics, and other relevant subjects, as well as workshops on Egyption PKU genotypes, genodermatoses, clinical genetics discussion of rare diseases, and much more.
    For further details

     
    Optimising Orphan Drug Development
     
    Date: 15-16 November 2010
    Venue: Brussels, Belgium

    Key topics include: Exploring the regulatory landscape for orphan drug development; Reviewing the different reimbursement processes in the EU to achieve better market access; Overcoming developmental challenges in orphan drugs; Examining the post phase 4 and market authorisation challenges; Assessing the opportunities for orphan drug development for “big pharma”.
    For further details

     
    Second Workshop on Patient Engagement in HTA
     
    Date: 17 November 2010
    Venue: Brussels, Belgium

    The aim of the workshop is to help formulate concrete recommendations that will lead to: Greater involvement of patients in the HTA process; Better targeted allocation of limited resources to the most effective treatments and practices; More streamlined co-ordination and engagement between HTA agencies and patients; and Faster access to innovative drug and technology services.
    For further details

     
    3rd European Symposium on Rare Anaemias and 1st Spanish Thalassemia meeting for Patients and Professionals
     
    Date: 19-20 November 2010
    Venue: Madrid, Spain

    The 3rd European Symposium on Rare Anaemias is an activity of the ENERCA project, which aims to stimulate interest and inform colleagues on the subject of congenital and rare anaemias. The programme will address prevention, diagnosis, treatment and includes an interactive workshop with patient panellists and doctors, focusing not only on clinical management but also on prevention and social action for thalassaemia and haemoglobinopathies.
    For further details

     
    Encephalitis Professional Seminar
     
    Date: 29 November 2010
    Venue: London UK

    This seminar presents current studies that contribute to a fuller understanding of the pathogenesis, epidemiology and outcomes of encephalitis.
    For further details

     
    11th EPPOSI Workshop on Rare Disease Therapy Development Workshop
     
    Date: 29-30 November 2010
    Venue: Prague, Czech Republic

    The topics of this year’s European Platform for Patients’ Organizations, Science and Industry workshop will include: Science - the determinants of rare disease research in Europe: understanding the current and future European Research and Development challenges and opportunities; Regulation - Europe and beyond: developing future regulations and policies for better rare disease therapies; and Sustainable Access - the reality we face to improve access to and affordability of orphan drugs.
    For further details

     
    World Orphan Drug Congress
     
    Date: 29 November – 1 December 2010
    Venue: Geneva, Switzerland

    Showcasing leading commercial strategies and orphan drug successes, and offering insight into the successful development, authorisation and reimbursement of rare disease drugs.
    For further details

     
    2nd Annual Commercialisation & Market Access Strategies for Orphan & Ultra-Orphan Drugs
     
    Date: 15-16 December 2010
    Venue: Barcelona, Spain

    The event will be focused on orphan therapies and will guarantee all participants access to today’s most relevant case studies and views which directly affect their future business plans and can assist them to maximise market and patient access.
    For further details

     
    4th International Meeting on the Congenital Disorders of Glycosylation and Related Disorders
     
    Date: 13-14 January 2011
    Venue: Leuven, Belgium

    The meeting will cover all aspects of these disorders, including the discovery of novel types, the study of fundamental aspects of glycosylation, analytical procedures and diagnostic methods and the analysis of models for the disease. The meeting is organised by EUROGLYCANET, a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders. Deadline for abstract submission: 30 September 2010.
    For further details

     
    VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2011)
     
    Date: 21-23 May 2011
    Venue: Tokyo, Japan

    A global meeting on international cooperation and public health policies focussing on research, diagnosis, development of and access to treatment and care for rare diseases. The programme for this conference will be available shortly.
    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. Deadline for abstract submission: 28 February 2011.
    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

     
    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

     


     
    Press & Publications
     
    Disability in the seventh art…
     
    Two new films depict disabled protagonists who elegantly demonstrate that they are more than their disabilities - each with their own particular journey. The first, a remarkable documentary made by French filmmakers, traces the arduous, but ultimately joyful journey of a group of musicians disabled by polio in Kinshasa, Democratic Republic of the Congo. Benda Bilili! ("Beyond appearances!" in English) received a standing ovation after it aired in Cannes. The optimism of one band member, who pronounces that “One day, we will be the most famous disabled men in all of Africa,” epitomises the determination that a rich life be lead, despite disability. Learn more

    Another film, Yo Tambien (Me, Too) casts Pablo Pineda, reportedly the first person with Down syndrome to obtain a university degree in Europe, as Daniel, a 34-year old man wrestling with his desire for a “normal” life and the knowledge that his disability renders him “different”. Disregarding his brother’s omen that, “No woman with 46 chromosomes is ever going to fall in love with you,” Daniel pursues a romance with “normal” co-worker Nuria, who in her own way is as much an outsider as he is. The film challenges the audience to confront their own assumptions and prejudices, particularly the tendency to desexualise and infantalise adults with intellectual deficit. Subplots involving other actors with Down syndrome reveal the varied spectrum of physical and intellectual disabilities in a disease that is becoming increasingly rare in Europe. Learn more

     
    A Guide to Genetic Counseling, 2nd Edition
     
    Authors: Uhlmann WR, Schuette JL, and Yashar B. –Eds.
    Publisher: Wiley, September 2009
    ISBN: 978-0-470-17965-9

    The text offers a comprehensive overview of genetic counselling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of the profession. The book defines the core competencies and covers the genetic counselling process from case initiation to completion, with an emphasis on describing fundamental principles and practices.

     
    Contested Cells: Global Perspectives on the Stem Cell Debate
     
    Authors: Capps BJ, and Campbell AV –Eds.
    Publisher: Imperial College Press, August 2010
    ISBN: 978-1-84816-437-6

    Gathering the experience of renowned scholars from science, philosophy, law and social science this book presents a distinctive and critical account of the current ethical, social and jurisprudential issues concerning stem cell science. From its research beginnings to the future translation into the clinical setting, this volume emphasises the developments in stem cell science from the perspective of a global collaboration of leading authors.

     


     
    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, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the European Union Committee of Experts on Rare Diseases
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