12 May 2010 print
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On the eve of the 10th anniversary of Europe’s Orphan Drug Regulation, the EMA undergoes a study of efficiency and efficacy
The European Medicines Agency (EMA) underwent a year-long evaluation process, conducted by one of the Big Four global auditors, Ernst and Young. Designed to assess the effectiveness and efficiency of the EMA, the evaluation, consisting of interviews, surveys, observations and case studies, shined a light into every corner of the EMA, examining the centralised and decentralised procedures of the agency. Working closely with EMA staff, National Competent Agencies (NCA), experts, industry, patient organisations and external stakeholders, recommendations to optimise the agency’s operations and strategies emerged around eight main topics: the organisation of the various EMA committees; NCA involvement in EMA work; the role of the EMA Secretariat; Procedures; Communication; Industry fees; Telematics; and Future challenges.

According to the audit, the EMA "appears to be a learning organisation that shows a permanent willingness to develop an ongoing improvement process. However the higher complexity and enlarged scope of responsibility and activities reveal some weaknesses associated with their specific risks. The system is progressively attaining its maximum capacity."

The Committee for Orphan Medicinal Products is singled out for praise...

The audit singles out the Committee for Orphan Medicinal Products (COMP) as a success: "Both the industry and other stakeholders tend to agree that the creation of COMP and related incentives have had a positive impact on research and development for specific products for orphan diseases. The procedure showed immediate success, with 83 submissions in 2001. This number has increased until 2005, when it stabilized around 120 submissions per year (with the exception of 2006). This coincided with a global increase and stabilisation in the number of authorised medicinal products for orphan diseases, with an average of 12.5 new medicinal products/year receiving approval from the CHMP for orphan diseases during the 2001-2008 period (range: 7-18, vs. only 2 in 2000)".

...although some words of warning are dispensed

The report observes that "... the careful consideration of whether a population can be considered as an orphan population may become a more complex issue in the future. Indeed, the trend towards the development of targeted therapies and personalised medicine could lead to more and more segmentation of patient populations into sub-populations. The rationale for such segmentation should be carefully monitored, as these subgroups may end up meeting the criteria for orphan status, while being sub-indication of a non-orphan disease. More applications of this type may lead to an increase of COMP’s workload in the near-future". Furthermore, the COMP’s "sustainability may be put at stake both because the system may not appropriately compensate NCAs for their involvement ... Although the current orphan products policy is unanimously recognized as having very positive outcomes, most stakeholders have expressed their concern over two subjects. First, some interviewees doubt the sustainability of a system that does not allow directly Rapporteurs and Co-Rapporteurs’ compensation and which budget has significantly increased in recent years. ... Second, although orphan medicines do reach the market more easily than they used to, their reimbursement is a raising issue at the national level. While this matter does not strictly enter the scope of the EMA, the unwillingness of national reimbursement bodies to pay for medicines that end up being very expensive and treating a very small population may on the long run undermine EMA efforts to provide all patients with new and accessible medicines".

Fostering access to authorised medicinal products in all Member States

While the EMA has contributed to the harmonisation of the EU internal market for medicines, the audit reports that "many stakeholders regret that medicines’ distribution falls out of the EMA scope. However, the industry provides already the EMA with some data about the distribution of authorised products according to the so-called "Sunset clause" (requirement for centrally authorised products to be placed on the European market within three years of the authorisation being granted). Monitoring such data with a look on the availability of authorised products in each Member State may allow the EMA to identify main weaknesses of the system. As pointed out in the first objective of the EC Communication on the future of the pharmaceutical sector, adopted on December 10th, 2008, this challenge may require political actions both at EU and Member States level: options to improve the availability of medicinal products for patients in need, with a particular focus on smaller markets should be developed in close cooperation with Member States by 2010".

The tenth anniversary of the European Orphan Drug Regulation was celebrated earlier this month in a two-day event that drew 120 participants from industry, research, government and patient groups - including delegates from the USA and Canada. (A full report of the 10th anniversary events will appear in the next issue of OrphaNews Europe). The audit report by Ernst and Young provides crucial information on how to shape the next ten years of orphan drug policies and practices and highlights the areas in need of particular attention.
Consult the Ernst and Young report

Spotlight on...
Leader of the Orphanet UK team receives Lifetime Achievement award from the March of Dimes

The 2010 recipient of the March of Dimes/Colonel Harland Sanders Award for lifetime achievement in the field of genetic sciences is Dian Donnai, Professor of Medical Genetics, Clinical Head of Division of St Mary’s Hospital and Consultant in the North West Regional Genetic Service, and the United Kingdom Country Coordinator for Orphanet. Prof. Donnai also serves as the Executive Director of Nowgen, a Centre for Genetics in Healthcare, established in June 2002 with programmes focused on public engagement and patient involvement, professional training and research into service delivery and development.

In a press release, Dr. Michael Katz, senior vice president for Research and Global Programs at the March of Dimes is reported as stating: "We are proud to recognize Prof. Donnai’s research career and her commitment to making genetic services and counseling available to all. Not only has her work helped improve the lives of those affected by rare genetic diseases, but it also has benefited millions of others seeking information and support."

Prof. Donnai commented, "I am very honoured to receive this award. I started work in genetics back in 1977 because I felt those families affected by rare disorders were not getting the health services they deserved and there was little research into the underlying mechanisms of the disorders. Now we are in a much better situation with the establishment of networks of genetic and other relevant services in many countries and thriving research programmes which have elucidated genetic mechanisms and developmental pathways involved in many syndromes which has led to better understanding and even the prospect of treatment of these rare disorders."

Prof. Donnai qualified in medicine in London and then trained in paediatrics and genetics in London, Sheffield and Manchester. Her research is in dysmorphology, the study of mechanisms underlying birth defects, and in health services research applied to genetics. She is a specialist on Williams syndrome. In 1993, Prof. Donnai identified a specific developmental disorder known as Donnai-Barrow syndrome, named after her and colleague Margaret Barrow. The gene mutated in Donnai-Barrow syndrome has recently been discovered, improving understanding of this condition in which affected children have severe hearing and vision loss, learning disabilities and internal problems. Due in large part to Prof. Donnai’s contribution, Manchester has established an international profile in dysmorphology with a strong research programme and the biennial Manchester Birth Defects Conference series attended by delegates from over 17 countries.

Other activities in Prof. Donnai’s busy life include a current role as President of the European Society for Human Genetics, fellow of the Academy of Medical Services and past president of the Medical Sciences Section of the British Association for the Advancement of Science. She was the consultant advisor to the Chief Medical Officer for England from 1998 to 2004 and was appointed Commander of the Order of British Empire in 2005. When not at work Prof. Donnai enjoys travelling with her husband, particularly to places with different cultures and interesting birdlife, and more recently spending time with her first granddaughter.

The March of Dimes/Colonel Harland Sanders Award for Lifetime Achievement in the field of genetic sciences is given annually to an individual who has made a significant contribution to the genetic sciences. OrphaNews Europe congratulates Prof. Donnai for this award acknowledging her tremendous efforts on the behalf of rare disease patients and their families.


EU Policy News

New cystic fibrosis study highlights critical differences across Europe in diagnostics and care
A new study published in the Lancet uses data from the European Cystic Fibrosis Demographics Registry which was organised in collaboration between the European Cystic Fibrosis Society (ECFS) and the FP6 EuroCareCF project to demonstrate the discrepancies in diagnostics, treatment - and ultimately patient life expectancy - between "new" and "old" European Union Member States as well as non-EU European countries. Comparative Demographics of the European Cystic Fibrosis Population: a Cross-Sectional Database Analysis, produced by members of the European Registry Working Group, compared demographic indicators for over 29,000 cystic fibrosis patients from 35 European countries, divided according to their EU membership status in 2003. Not surprisingly, the long-established EU countries had a higher proportion of older patients. The non-EU countries and recent EU Member States had a lower prevalence of cystic fibrosis patients, due probably to under-diagnosis, reduced access to treatment, and premature childhood mortality. In a press release, researchers from the EuroCareCF Coordination Action for Cystic Fibrosis declared that the "healthcare gap amounting to a "death sentence" for Cystic Fibrosis children born in Eastern Europe must be closed". One of the authors pointed out that the "...lack of healthcare facilities in new member states means that the majority of children born with CF in these countries will die in very early childhood, a situation not encountered in the wealthier EU countries for many decades". It has been suggested that this study can serve as a model, demonstrating to policy makers how resources allocated for early diagnosis and intervention can impact disease outcome for patients with a rare disorder.
Consult the PubMed abstract

New Director-General appointees for Health and Consumers and for Information Society and Media
On 1 April, the European Commission appointed Paola Testori Coggi as the new Director-General of the DG for Health and Consumers (DG Sanco). Ms. Testori Coggi, an Italian national who served as Deputy Director-General for DG Sanco since August 2007, replaces British national Robert Madelin, who held the post since January 2004. Ms. Testori Coggi, who joined the European Commission in 1983, brings years of experience working on health and food safety-related issues. Mr. Madelin moves to the DG for Information Society and Media, where he has been appointed Director-General. It is anticipated that his experience with DG Sanco will contribute to digital-health related matters, including e-health. OrphaNews Europe congratulates Ms. Testori Coggi and Mr. Madelin on their new positions.

EMA issues warning over using unregulated stem cell products
The European Medicines Agency and its Committee for Advanced Therapies have issued a statement of concern over the practice of offering unregulated stem cell products to patients for a variety of disorders - including rare conditions. While such treatments are available under limited, strictly controlled circumstances - including clinical studies, compassionate use programmes, and hospital exemption - the use of such products outside these circumstances could be harmful. The statement reminds the public that no stem-cell product has been authorised by the EMA in the European Union to date. Consult the statement
EMA further enhances transparency of orphan designation decision making
In the April monthly report of the European Medicine Agency’s Committee for Orphan Medical Products (COMP), the intention to make public the outcomes of the reviews for orphan designation was announced. As part of an effort to enhance transparency, the EMA will publish a document summarising the COMP position concerning whether orphan designation should be maintained or revoked. A discussion of the justification of significant benefit over existing authorised treatments will be included in these "Review of orphan designation" documents, to be linked to the public summary of opinion and the European public assessment reports (EPAR).

National & International Policy Developments

Survey of Norway’s Centres of Expertise for Rare Disorders reveals satisfaction but need for centralised contact resource

The Norwegian Directorate for Health has received the results of a commissioned survey carried out by marketing research firm Synovate that sought to explore the knowledge of 11 National Centres of Expertise for rare disorders in Norway. The survey respondents included 139 professionals from local and regional coordinating units, child health clinics, children’s units in hospitals and rehabilitation units for children and adults.

The knowledge of the different centres varies from 23% to 95% of those surveyed. Variation depends upon the number and type of diagnoses each centre is responsible for as well as the history of the centres. The degree of cooperation varied from 15% to 67%. The most common challenge for those contacting one of the Centres of Expertise was the need for counselling for a specific and current problem (81%), followed by the need for information about a specific diagnosis (78%), where to be referred for treatment (59%), and how to contact others with the same or similar diagnosis (41%).

Some 65% of 106 respondents who had been in contact with one of the Centres of Expertise stated that the contact concerned a recently-diagnosed patient. 45% stated that their contact concerned a worsening condition, 37% with a transitional stage, 36% with need for information on home care services, and 32% concerned a lack of diagnosis. The respondents asked for information from a variety of professionals: doctors, physiotherapists, nurses, social workers, occupational therapists, educators, genetic counsellors, nutritional physiologists, and social educators. 58% of the respondents familiar with one or more of the Centres of Expertise stated that they or their workplace received counselling via a visit from the centre(s). 51% attended courses or seminars at one of the centres.

Overall, 61% of the respondents claimed that the service from the centre(s) was fairly to very good. 65% experienced the service to be fairly to very relevant. Respondents were also asked about their knowledge of the help-line for rare disorders available at the Norwegian Directorate for Health. The results reveal a lack of knowledge about this free access help-line. Only 37% knew of the help-line, and of these, only 13% had actually called the line. There was an over-all demand for a centralised telephone/postal resource for the Centres of Expertise, and a global lack of knowledge of where to obtain information on rare disorders. The Norwegian Directorate of Health is the country’s competent authority, responsible for technical as well as certain administrative duties, and coordinates and monitors the services for rare disease patients in Norway. The Rehabilitation and Rare Disorders Department at the Directorate maintains a free help-line for rare conditions available to patients, family members and professionals. The results from the survey show that this service should be better marketed.
Learn more (in Norwegian)

Other European news
Rare Cancer group creates video campaign to boost petition calling for greater priority for rare cancer care

The European Action against Rare Cancers launched a Call to Action against Rare Cancers last June, following recommendations emerging from the multi-stakeholder conference Rare Tumours in Europe: Challenges and Solutions held in November 2008 in Brussels. As part of its ongoing campaign to collect signatures toward a petition that urges policy makers and other stakeholders to give priority to quality research, treatment and care for patients with rare cancers, testimonial videos have been created that explain the issues and encourage viewers to sign the petition. Paolo Casali, representing the European Society for Medical Oncology in the initiative, underlines the importance of supporting the recommendations, which propose stakeholder actions and public policies to meet the challenges that patients, researchers, medical professionals and the pharmaceutical industry face working in this field every day.
View the videos

Family guide for Duchenne muscular dystrophy available in several languages

A collaborative effort involving several muscular dystrophy patient associations and Network of Excellence TREAT-NMD has created a guide for families based upon a two-part consensus article entitled The Diagnosis and management of Duchenne muscular dystrophy published in the journal Lancet Neurology. It is hoped that the guide, which can be used alone or in tandem with the academic article, is utilised by patients and families in collaboration with health care professionals in order to tailor patients’ specific needs. The guide, prepared in different formats, already exists in English and will soon be available in several languages including Bulgarian, Czech, Dutch, German, Greek, Japanese, Portuguese, Romanian, Slovenian, Spanish, Turkish, and Ukrainian. TREAT-NMD would like to have the guide translated into other languages. For further information

The first European Health 2.0 conference for online healthcare tools draws a crowd in Paris
The Health 2.0 conferences provide a venue for companies to showcase online and mobile healthcare tools, including emerging technologies for searching, managing content, online interaction, and much more. After several successful events in the United States, the first European conference took place in Paris in early April to a sold-out audience. The crowded agenda featured a host of European health technology players, each awarded just three minutes to proffer their wares. Orphanet was amongst the fifty-some presentations, and director Ségolène Aymé took advantage of her three minutes to present the European rare disease portal and its unique technological offer. Other presenters included Google, Microsoft, the Health on the Net Foundation, MedWorm, PatientsLikeMe, Medting, the British Medical Journal, the French National Authority for Health, Bayer Schering Pharma, Pfizer, the OECD, and others. An exceptionally noteworthy presentation came from Dr. Bertalan Mesko, Hungarian creator of the award-winning medical blog, Scienceroll.com, who is helping physicians enter the web 2.0 era and empowering patients to find medically reliable content online via Webicina.com

Ethical, Legal & Social Issues

Genome studies come full circle to refocus on monogene disorders..collaborating with emerging countries would further knowledge
Professor Hans-Hilger Ropers, who accorded OrphaNews Europe an interview in late 2008, during which he discussed the need for developing countries to make monogenic diseases the priority of their genomic research programmes, has recently contributed an interesting article to the review Dialogues in Clinical Neuroscience. In Single Gene Disorders Come into Focus - Again, Prof. Ropers demonstrates how the Human Genome Project has come full circle following an expensive and largely unsuccessful endeavour to uncover the genetic risk factors linked to common diseases, to once again focus on Mendelian disorders. Prof. Ropers makes the crucial point that the thousands of monogenic diseases identified to date, which collectively afflict millions of people worldwide, have a valuable contribution to make toward understanding common diseases. But they are also important in their own right: "In contrast to many complex disorders such as type 2 diabetes and obesity, which are life-style related, become manifest only later in life, or are relatively mild, single gene disorders are mostly severe, early-onset conditions, necessitating lifelong care and support". Prof. Ropers points out that with the affordable "third-generation" sequencing technologies due to come on the market at the end of this year, "carrier tests for all known recessive disorders will be available sooner rather than later." Evoking the case of intellectual deficit, for which diverging genetic cause theories abound, the novel high throughput mutation detection technologies will finally allow researchers to put the theories to the test.

The article makes a case for increasing collaboration between industrialised and developing countries - especially those from the so-called "consanguinity belt": "With the implementation of...novel methods, the stage is set for the systematic identification of single gene defects, which is overdue and will have far-reaching implications for health care. Recessive disorders likely represent the bulk of the disorders that are hitherto unknown, but they are easily overlooked in industrialized countries because most of the patients will be isolated cases, particularly those without clearly distinguishable phenotypes. Their identification and recruitment is much easier where large families and parental consanguinity are common, but due to more urgent problems, like the scarcity of clean drinking water, malnutrition, or high perinatal and infant mortality, the diagnosis, prevention, and therapy of single gene defects is not high on the agenda, even though these disorders are even more common in these countries than they are in outbred Western populations. This argues for collaborations between emerging and industrialized countries...".
Consult the PubMed abstract


Orphanet News

Emergencia! Rare disease urgent care guidelines now available in Spanish
The first emergency care guidelines for eight rare conditions are now available on the Orphanet Spain website. Expert-authored and peer-reviewed, the guidelines are intended to aid health care professionals in emergency situations. Guidelines also exist in French, English, German and Italian. View the Spanish language emergency guidelines
New Texts
New Orphanet Journal of Rare Diseases publications
Mucopolysaccharidosis VI

New Syndromes

Fatal cardiac arrhythmia and long-QT syndrome in a new congenital lipodystrophy caused by PTRF-CAVIN mutations
The authors investigated eight families with a novel subtype of congenital generalised lipodystrophy of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, the authors found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. The gene PTRF-CAVIN (polymerase I and transcript release factor/Cavin), essential for caveolae biogenesis, was identified in patient with this condition.
Read the PubMed abstract

PLoS Genet ; e1000874 ; 12 March 2010
An atypical autoinflammatory disorder with a germline mutation in the leucine-rich repeat domain of NLRP3
The authors describe an atypical familial form of an autoinflammatory disorder, characterised by autosomal-dominant sensorineural hearing loss, systemic inflammation, increased secretion of interleukin-1beta (IL-1beta), and the absence of any cutaneous manifestations, and identify the leucine-rich repeat domain of the NLRP3 gene associated with the disease. This report is the first to describe such a condition, which combines the phenotypical features of Muckle Wells syndrome and Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome and associated with a mutation outside of exon 3 of NLRP3.
Read the PubMed abstract

Arthritis Rheum. ; 1176-1185 ; April 2010

New Genes

Osteogenesis imperfecta: mutations in the gene for RER protein FKBP65 cause autosomal-recessive form
Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Recessively inherited OI, usually phenotypically severe, has recently been shown to result from defects in the prolyl-3-hydroxylase complex that lead to the absence of a single 3-hydroxyproline at residue 986 of the alpha1(I) triple helical domain. The authors studied a cohort of five consanguineous Turkish families, originating from the Black Sea region of Turkey, with moderately severe recessively inherited OI and identified a novel locus for OI on chromosome 17. In these families, and in a Mexican-American family, homozygosity for mutations in FKBP10, which encodes FKBP65, a chaperone that participates in type I procollagen folding, was identified. Further, they determined that FKBP10 mutations affect type I procollagen secretion.
Read the PubMed abstract

To read more about "Osteogenesis imperfecta"

Am J Hum Genet ; 551-559 ; 9 April 2010
Autosomal-recessive nonsyndromic hearing impairment DFNB84 associated with vestibular dysfunction: mutations in PTPRQ at cause
The authors identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with sensorineural autosomal-recessive nonsyndromic hearing impairment. Sequence analysis of the PTPRQ gene revealed a nonsense mutation in the Dutch family and a missense mutation in the Moroccan family. Hearing loss in the patients with PTPRQ mutations is likely to be congenital and moderate to profound and most severe in the family with the nonsense mutation. Progression of the hearing loss was observed in both families. The hearing loss is accompanied by vestibular dysfunction in all affected individuals.
Read the PubMed abstract

To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Am J Hum Genet ; 604-610 ; 9 April 2010
Hereditary hypotrichosis simplex: APCDD1 is mutated
Hereditary hypotrichosis simplex is a rare autosomal dominant form of hair loss characterised by hair follicle miniaturization. The authors identified a mutation in the adenomatosis polyposis down-regulated 1 (APCDD1) gene in three families. Functional studies show that APCDD1 inhibits Wnt signalling in a cell-autonomous manner and functions upstream of beta-catenin. Moreover, APCDD1 represses activation of Wnt reporters and target genes, and inhibits the biological effects of Wnt signalling during both the generation of neurons from progenitors in the developing chick nervous system, and axis specification in Xenopus laevis embryos. These findings describe a novel inhibitor of the Wnt signalling pathway with an essential role in human hair growth.
Read the PubMed abstract

To read more about "Hypotrichosis simplex of the scalp"

Nature ; 1043-1047 ; 15 April 2010
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture
Autosomal-dominant woolly hair (ADWH) is a rare disorder characterised by tightly curled hair. The molecular basis of ADWH has not previously been reported. In this study, the authors identified a heterozygous mutation, p.Asn148Lys, within the helix initiation motif of the keratin 74 (KRT74) gene in all affected family members of a Pakistani family with ADWH.
Read the PubMed abstract

To read more about "Woolly hair"

Am J Hum Genet ; 632-638 ; 9 April 2010

Research in Action

Fundamental Research
Angelman syndrome: regulation of Ring1B by self-ubiquitination or by E6-AP may have implications in disease pathogenesis
Angelman syndrome is a neurogenetic disorder that affects the brain and causes a pattern of clinical features including delayed motor activities such as walking or ataxic gait, intellectual deficit with minimal or absent speech, seizures, sleep disturbances, characteristic facial features and a happy demeanor. The authors identify E6-AP (E6-associated protein) as a ligase that targets Ring1B for "canonical" ubiquitination and subsequent degradation and demonstrate that both the self-ubiquitination of Ring1B and its modification by E6-AP target the same lysines, suggesting that the fate of Ring1B is tightly regulated (e.g., activation vs. degradation) by the type of chains and the ligase that catalyzes their formation. As expected, inactivation of E6-AP affects downstream effectors: Ring1B and ubiquitinated H2A levels are increased accompanied by repressed expression of HoxB9, a PRC1 target gene. Consistent with these findings, E6-AP knockout mice display an elevated level of Ring1B and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome, which is caused by deficiency of E6-AP in the brain.
Read the PubMed abstract

To read more about "Angelman syndrome"

PNAS ; 6788-6793 ; 13 April 2010
Clinical Research
Acute lymphoblastic leukaemia: reversal of glucocorticoid resistance through activation of autophagy-dependent necroptosis
In vivo resistance to first-line chemotherapy, including glucocorticoids, is a strong predictor of poor outcome in children with acute lymphoblastic leukaemia (ALL). Modulation of cell death regulators represents an attractive strategy for subverting such drug resistance. The authors report complete resensitization of multidrug-resistant childhood ALL cells to glucocorticoids and other cytotoxic agents with subcytotoxic concentrations of obatoclax, a putative antagonist of BCL-2 family members. The reversal of glucocorticoid resistance occurred through rapid activation of autophagy-dependent necroptosis, which bypassed the block in mitochondrial apoptosis.
Read the PubMed abstract

To read more about "Acute lymphoblastic leukemia"

J Clin Invest ; 1310-1323 ; April 2010
Prader-Willi syndrome: three separate evaluations consider different aspects of growth hormone treatment
Prader-Willi syndrome is a rare genetic disorder characterised by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioural problems or severe psychiatric problems. Patients are presently treated via recombinant human GH (hGH) treatment. The Journal of Clinical Endocrinology and Metabolism has published three separate studies evaluating hGH treatment of patients and focusing on different points: the first study evaluates the long-term effects of treatment on body composition and motor functions; the second looks at the correlation of adiponectin receptor expression and sensitivity to insulin, and the third considers cardiovascular and metabolic risk profile and acylation-stimulating protein levels of treated children.
Read the first PubMed abstract
Read the second PubMed abstract
Read the third PubMed abstract

To read more about "Prader-Willi syndrome"

J Clin Endocrinol Metab ; 1131-1136 ; March 2010
J Clin Endocrinol Metab ; 1371-1377 ; March 2010
J Clin Endocrinol Metab ; 1758-1766 ; April 2010
Primary biliary cirrhosis: risk factors in United Kingdom populations
The aetiology of primary biliary cirrhosis (PBC) is largely unknown. Previous studies have indicated that both environmental and genetic risk factors may be important. In this study involving two sets of PBC cases, one from a geographically defined epidemiology study and from a survey of the national patient support group, the authors determined that among environmental risk factors, smoking and the use of some cosmetics as well as urinary infections appear important. Among possible genetic risk factors, a family history of PBC is a strong association, and a previous history of obstetric cholestasis as another putative genetic risk.
Read the PubMed abstract

To read more about "Primary biliary cirrhosis"

Gut ; 508-512 ; April 2010
Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation
Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterised by iron accumulation in the brain. Severe generalised dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. The authors undertook a multi-centre retrospective study involving 23 patients to gather worldwide experiences with bilateral pallidal deep brain stimulation in patients with neurodegeneration with brain iron accumulation. The primary outcome measure was change in severity of dystonia. The mean improvement in severity of dystonia was 28.5% at 2-6 months and 25.7% at 9-15 months. Global quality of life ratings showed a median improvement of 83.3% at 9-15 months. The study confirms that dystonia in neurodegeneration with brain iron accumulation improves with bilateral pallidal deep brain stimulation, although this improvement is not as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias.
Read the PubMed abstract

To read more about "Neurodegeneration with brain iron accumulation"

Brain ; 701-712 ; March 2010
Stem Cells

Hypophosphatasia: restoration of cellular function by transduced autologous mesenchymal stem cells
Hypophosphatasia is a rare inherited disorder characterised by defective bone and teeth mineralisation, and deficiency of serum and bone alkaline phosphatase activity and caused by mutations in the liver/bone/kidney alkaline phosphatase gene TNSALP encoding the tissue-nonspecific alkaline phosphatase (TNAP). The authors report a study using autologous mesenchymal stem cells (MSCs) for the treatment of hypophosphatasia. They transduced a retroviral vector with TNSALP promoter-driven TNSALP gene in the MSCs. In the culture condition, the MSCs had about 7-fold higher ALP activity than did mock-transduced MSCs, and showed mineralisation as well as bone-specific markers. Furthermore, the MSCs, but not mock-transduced MSCs, had newly formed bone at the frequency of 50% in nude rats. Transplantation of the TNSALP-transduced autologous MSCs might become a new therapy for hypophosphatasia.
Read the PubMed abstract

To read more about "Hypophosphatasia"

Gene Ther ; 494-502 ; April 2010
Isolation of a highly myogenic CD34-negative subset of human skeletal muscle cells free of adipogenic potential
The differentiation of multipotent cells into undesirable lineages is a significant risk factor when performing cell therapy. In muscular diseases, myofibre loss can be associated with progressive fat accumulation that is one of the primary factors leading to decline of muscular strength. Therefore, to avoid any contribution of injected multipotent cells to fat deposition, the authors searched for a highly myogenic but nonadipogenic muscle-derived cell population. Using the stem cell marker CD34, they were able to sort two distinct populations with or without adipose deposition. These data indicate that the muscle-derived cells constitute a heterogeneous population of cells with various differentiation potentials. The simple CD34 sorting allows isolation of myogenic cells with no adipogenic potential and therefore could be of high interest for cell therapy when fat is accumulated in diseased muscle.
Read the PubMed abstract

Stem Cells ; 753-764 ; April 2010
Therapeutic Approaches
Rendu-Osler-Weber disease: thalidomide stimulates vessel maturation and reduces epistaxis
Hereditary hemorrhagic telangiectasia, also known as Rendu-Osler-Weber disease, is an inherited disorder characterised by vascular malformations. Many affected individuals develop recurrent nosebleeds, which can severely affect their quality of life and are clinically difficult to treat. The authors report that treatment with thalidomide reduced the severity and frequency of nosebleeds (epistaxis) in the majority of a small group of subjects tested. The blood haemoglobin levels of the treated individuals rose as a result of reduced haemorrhage and enhanced blood vessel stabilisation. The effects of thalidomide treatment were partially reversed by pharmacological or genetic interference with PDGF signalling from endothelial cells to pericytes.
Read the PubMed abstract

To read more about "Rendu-Osler-Weber disease"

Nat Med ; 420-428 ; April 2010
Acute promyelocytic leukemia: arsenic trioxide controls the fate of the PML-RARalpha oncoprotein by directly binding PML
Arsenic, an ancient drug used in traditional Chinese medicine, has attracted worldwide interest because it shows substantial anticancer activity in patients with acute promyelocytic leukemia (APL). Arsenic trioxide exerts its therapeutic effect by promoting degradation of an oncogenic protein that drives the growth of APL cells. Here the authors show that arsenic binds directly to cysteine residues in zinc fingers located within the RBCC domain of PML-RARalpha and PML. Arsenic binding induces PML oligomerization, which increases its interaction with the small ubiquitin-like protein modifier (SUMO)-conjugating enzyme UBC9, resulting in enhanced SUMOylation and degradation. The identification of PML as a direct target of As2O3 provides new insights into the drug’s mechanism of action and its specificity for APL.
Read the PubMed abstract

To read more about "Acute promyelocytic leukemia"

Science ; 240-243 ; 9 April 2010
Proximal spinal muscular atrophy: SAHA ameliorates the phenotype in two mouse models
Proximal spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder determined by functional impairment of alpha-motor neurons within the spinal cord. SMA is caused by functional loss of the survival motor neuron gene 1 (SMN1), whereas disease severity is mainly influenced by the number of SMN2 copies. SMN2, which produces only low levels of full-length mRNA/protein, can be modulated by small molecules and drugs, thus offering a unique possibility for SMA therapy. Here, the authors analysed suberoylanilide hydroxamic acid (SAHA), a FDA-approved histone deacetylase inhibitor, as a potential drug in two severe SMA mouse models each carrying two SMN2 transgenes. SAHA treatment of pregnant mothers rescued the embryonic lethality giving rise to SMA offspring. Treatment with 25 mg/kg twice daily SAHA increased lifespan of SMA mice by 30%, significantly improved motor function abilities, reduced degeneration of motor neurons within the spinal cord and increased the size of neuromuscular junctions and muscle fibres compared with vehicle-treated SMA mice.
Read the PubMed abstract

To read more about "Proximal spinal muscular atrophy"

Hum Mol Genet ; 1492-1506 ; 15 April 2010
Diagnostic Approaches

Cushing disease: desmopressin test effective for differential diagnosis from pseudo-Cushing disease
The desmopressin (DDAVP) test has been proposed to discriminate Cushing disease (CD) from pseudo-Cushing states (PC); however, current information on its value is scarce and contradictory. The authors of this study find that interpretation of the DDAVP test through a combination of parameters allowed effective discrimination of CD from PC, even in subjects with mild hypercortisolism.
Read the PubMed abstract

To read more about "Cushing disease"

J Clin Endocrinol Metab ; 1115-1122 ; March 2010

Patient Management and Therapy

Familial hypercholesterolaemia: mipomersen, an apolipoprotein B synthesis inhibitor, lowers LDL cholesterol concentrations
Homozygous familial hypercholesterolaemia is a rare genetic disorder in which both LDL-receptor alleles are defective, resulting in very high concentrations of LDL cholesterol in plasma and premature coronary artery disease. This randomised, double-blind, placebo-controlled, phase 3 study undertaken in nine lipid clinics in seven countries, investigated whether an antisense inhibitor of apolipoprotein B synthesis, mipomersen, is effective and safe as an adjunctive agent to lower LDL cholesterol concentrations in patients with this disease. They found that inhibition of apolipoprotein B synthesis by mipomersen represents a novel, effective therapy to reduce LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia who are already receiving lipid-lowering drugs, including high-dose statins.
Read the PubMed abstract

To read more about "Familial hypercholesterolemia"

Lancet. ; 998-1006 ; 20 March 2010

Orphan Drugs

Seven positive opinions adopted at April COMP meeting
The European Medicines Agency’s Committee for Orphan Medicinal Products (COMP) adopted seven positive opinions issued at the April 2010 COMP meeting for the treatment of:

- primary myelofibrosis
- post-polycythaemia vera myelofibrosis
- post-essential thrombocythaemia myelofibrosis
- primary biliary cirrhosis
-traumatic spinal cord injury
-prevention of scarring post glaucoma filtration surgery
- prevention of late-onset sepsis in premature infants of less than or equal to 32 weeks of gestational age

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

Report shows that California’s thriving biotechnology industry includes rare diseases in its cutting-edge offer
The 2010 California Biomedical Industry Report, produced by the California Healthcare Institute (a non-profit public policy research organisation) and PricewaterhouseCoopers Pharmaceutical and Life Sciences Industry Group, includes a special section on rare diseases. Battling Rare Diseases in a Blockbuster World (pages 53-56) evokes the difficulties inherent in producing medical products for a small population when developmental costs do not necessarily differ from those incurred for blockbuster drug development. However, California has biotech firms, non-profit groups, patient lobbyists, and policy makers all colluding to ensure that the innovation that distinguishes California’s thriving biotechnology industry extends to rare disease treatments.
Consult the California Biomedical Industry 2010 Report


Courses & Educational Initiatives

23rd Course in Medical Genetics
Date: 23-28 May, 2010
Venue: EuroMediterranean University Centre of Ronzano, Bologna, Italy

A week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today, providing an overall view of the clinical developments taking place in the major application fields of modern genetics in different medical specialties. The topics covered in the present edition are: Introduction to Medical Genetics and Genome Analysis, Cytogenetics and Clinical Genetics, New Approaches in Medical Genetics, Complex Genetic Disorders and Neurogenetics, Therapy, Technology, Epigenetics and Ethical Issues.
For further details

Update in Neuromuscular Disorders
Date: 24-27 May 2010
Venue: Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, London, UK

This course, now in its third year, is the result of the merging of two popular annual courses with an established international reputation. Amongst the many topics covered are diagnostic approaches in muscular dystrophy; distal myopathies; limb girdle muscular dystrophies; long-term ventilation in DMD; childhood CMT; Pompe disease; congenital myopathies; congenital myasthenia; pharmacological treatment of muscular dystrophies; genetic therapy in DMD; and much more.
For further details

TREAT-NMD Clinical Trials in Neuromuscular Disorders and Other Rare Diseases Workshop
Date: 24-26 June 2010
Venue: The Clinical Trials Coordination Centre, Freiburg, Germany

One of the most common reasons for failed trials is poor protocol design. As neuromuscular disorders are very rare, clinical trials have to be multi-centre or even multinational to include enough patients. As a result, the study design for these trials is usually complex. Also, academic trials have come to face a changed regulatory environment following the implementation of the EU Clinical Trials Directive 2001/20/EC. This TREAT-NMD workshop will explore these issues.
For further details

4th Inborn Errors in Neonatology Course
Date: 21-23 October 2010
Venue: Dubrovnik, Croatia

This practical course is run by an experienced team of paediatricians, neonatologists, molecular biologists and biochemists specialised in metabolic medicine, who already contributed substantially to the understanding of metabolic disorders in childhood. The two and a half days course includes lectures and seminars for 35 participants. The course is aimed at paediatricians with about 2-3 years clinical experience in the neonatology field.

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

Institute of Myology Summer Programme
The Institute of Myology offers the possibility to train in myology via a condensed 10-day course organised in Paris, France. The course is open to foreign students with special attention given to those posted in the French Overseas Territories and those working in developing countries. Many aspects of myology are addressed during the course, from basic science to cutting-edge therapies, and clinical and genetic approaches to muscle diseases, taught via a series of lectures and interactive workshops in English. A certificate of attendance is issued upon completion of the Summer School.
For further details


What's on Where?

5th European Conference on Rare Diseases 2010
Date: 13-15 May 2010
Venue: Crakow, Poland

From policy to effective services for patients, this conference will look at national plans and strategies for rare diseases, European reference networks and centres of expertise, information and medical education, science from bench to bedside, rare diseases in central and Eastern Europe, and much more.
For further details

7th International Prader-Willi Syndrome Conference: East Meets West -“ A New World for Prader-Willi Syndrome
Date: 20-23 May 2010
Venue: Taipei, Taiwan

A scientific conference bringing together clinicians and researchers from around the world to present and discuss new research findings relevant to the understanding of PWS, new treatments and support strategies, and policy and practice development will be held alongside and combined with a parent and care-provider conference. There is also a young persons’ programme designed especially by the host country.
For further details

22nd Annual Meeting of the European Academy of Childhood Disability
Date: 27-29 May 2010
Venue: Brussels, Belgium

This year’s event - Measures of Progress: Evaluating management outcome in childhood disability - will update and clarify the multidimensional model of disablement specifically applied to management of children with neurodevelopmental disability. Emphasis is on the need for reliable measurement of management outcomes through new findings, from functional imaging to quality of life assessment.
For further details

First International Workshop on Oesophageal Atresia
Date: 27-28 May 2010
Venue: Lille, France

Amongst the topics covered will be: molecular embryology of the foregut; environmental factors in the etiology of esophageal atresia; genetic factors in isolated and syndromic esophageal atresia; ultrasound and MRI prenatal diagnosis of OA: impact on management; Outcomes of esophageal atresia beyond childhood; multidisciplinary clinics: how to improve the follow-up of the patients; and family support groups: an essential contribution to follow-up care.
For further details

Fourth Conference on Translational Research in Paediatric Rheumatology
Date: 27-30 May 2010
Venue: Genoa, Italy

"Biological Agents and Emerging Treatments in the Management of Rheumatic Diseases" will address the treatment of both adult and childhood rheumatic diseases with the purpose of reviewing and discussing the progress that has been achieved thus far, the unmet needs that are still faced, and the potential new treatments that the future holds in store. A final session will be devoted to strategies to improve methodologies of translational research on and clinical development in common, as well as rare, forms of rheumatic disorders.
For further details

ISDN 2010: 18th Biennial Meeting of the International Society for Developmental Neuroscience
Date: 6-9 June 2010
Venue: Estoril, Portugal

Will feature the most recent advances in fundamental and disease-focused developmental neuroscience. Fragile X, Rett Syndrome, ciliopathy disorders, Meckel-Gruber syndrome are amongst the rare conditions included in the programme.
For further details

Giving Patients a Voice: Genetic Interest Group Conference 2010
Date: 8 June 2010
Venue: London, England

The 2010 GIG conference will focus on important developments in patient partnership in healthcare. The afternoon will be dedicated to Rare Disease UK and will be focused on gaining views on how services for patients and families with rare diseases can be improved.
For further details

First Regional Forum for Orphan Diseases
Date: 11 June 2010
Venue: Salzburg, Austria

The first half of the day will be devoted to international topics and held in English. The second half will be dedicated to local topics related to orphan diseases and held in German language. The Forum will close with a panel discussion with representatives from insurance companies, health politics, parent support groups and hospitals. View the programme
For further details

European Human Genetics Conference 2010
Date: 12-15 June 2010
Venue: Gothenburg, Sweden

In conjunction with the European Meeting on Psychosocial Aspects of Genetics. With various satellite symposia available including the one-day event taking place on 11 June entitled "Changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe".
For further details

International Conference on Neuromuscular Diseases: Care and Clinical Trials
Date: 17-19 June 2010
Venue: Sao Paulo, Brazil

This exciting meeting is aimed at healthcare professionals with an interest in neuromuscular disorders (with a special focus on DMD and SMA) and patients and families. Two days of lectures from a strong panel of international and Brazilian speakers will be followed by a dedicated family day with research updates for patients and information on physiotherapy and care.
For further details

Advances in Neuroblastoma Research 2010
Date: 21-24 June 2010
Venue: Stockholm, Sweden

Workshops will address hypoxia, tumour stem cells and vascularization; micro-RNA and neuroblastoma; genome-wide sequencing; novel therapies and more. An update course is also offered.
For further details

11th International Symposium on Mucopolysaccharide & Related Diseases
Date: 23-26 June 2010
Venue: Adelaide, South Australia

This year’s theme is "Translating Research into Clinical Reality" with a focus on the areas of newborn screening, prognostics, understanding pathology and therapeutic options.
For further details

6th Alstrom Syndrome Family Conference, Medical Research Clinic and Scientific Symposium
Date: 24-28 June 2010
Venue: Helen, Georgia, USA

Bringing together patients and professionals to further knowledge of Alstrom syndrome and its treatment.
For further details

16th Retina International World Congress
Date: 26- 27 June 2010
Venue: Stresa, Italy

This year’s theme is "Change our vision - Bridging the gap from the lab to the patients". Sessions will cover genetic and clinical aspects of inherited retinal degenerations; diagnosing young children; gene therapy; and treatment perspectives.
For further details

International Congress for Tarlov Cysts and Adhesive Arachnoiditis
Date: 2-3 July 2010
Venue: Chambéry, France

International health professionals will discuss recent findings on Tarlov and meningeal cysts, Arachnoiditis, Cauda Equina syndrome, and neuropathic pain. Patients will share their experience. Translations available in English, French and Spanish.
For further details

Fifth Eastern European Conference for Rare Diseases and Orphan Drugs and First Russian Conference for Rare Diseases and Rarely
Date: 2-4 July 2010
Venue: Saint Petersburg, Russia

With sessions on Rare Diseases in the Focus of Personalized Medicine; Best Practice in Field of Rare Diseases and Personalized Medicine; Rare Diseases - Future, Perspectives, Challenges of Health Care; Modern capabilities in diagnostics and treatment of rare diseases; and much more.
For further details

14th International Conference on Behçet Disease
Date: 8-10 July 2010
Venue: London, England

Presenting new developments in basic and clinical science to bear on the specific issues of Behçet Disease (BD). Topics to be covered will include immunology of BD, vasculitis in BD, genetic basis of BD, regional inflammation and paediatric BD. The programme will also include debates on topics of current interest or controversy.
For further details

17th International Paediatric Colorectal Club Meeting
Date: 17-19 July 2010
Venue: Padova, Italy

Topics include anomalies of the bowel, anorectal malformation, Hirschsprung disease and urological aspects.
For further details

2th International Congress on Neuromuscular Diseases
Date: 17-22 July 2010
Venue: Naples, Italy

Offering a variety of sessions including paediatric neuromuscular diseases, genetic testing and diagnosis, pathogenic mechanisms of inherited neuropathies, novel therapeutic targets at the neuromuscular junction, motor neuron diseases, and much more.
For further details

International All Star Vasculitis Symposium
Date: 30 July-1 August 2010
Venue: Long Beach, CA, USA

Topics will cover all the vasculitides and will concentrate on the advances in medical treatments, research and quality of life issues for patients.
For further details

FDA Orphan Drug Workshop
Date: 3-4 August 2010
Venue: Minnesota, USA

Over two days, FDA staff from the Office of Orphan Products Development (OOPD) will provide regulatory assistance to sponsors to find regulatory paths forward. Most of the time will be spent in application writing and individual one-on-one guidance sessions to develop the strongest possible orphan designation application to be submitted at the close of the workshop.
For further details

26th International Congress of Pediatrics
Date: 4-9 August 2010
Venue: Johannesburg, South Africa

Amongst the general programme are symposia on primary immunodeficiency diseases in resource-limited settings, appropriate genetic testing, and a workshop on approaches to the dysmorphic child.
For further details

2nd Congress of the European Society for Paediatric Anaesthesiology
Date: 2-4 September 2010
Venue: Berlin, Germany

Amongst the programme of this congress will be a session entitled "Rare diseases: a common problem!" featuring the anaesthetic management of a child with a rare disease; approaches to rare diseases at the national and European level; and the OrphanAnaesthesia project. Deadline for abstract submission: 18 May 2010.
For further details

MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
Date: 16-18 September 2010
Venue: Viareggio, Italy

This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
For further details

Second AnEUploidy Workshop
Date: 17-19 September 2010
Venue: Split, Croatia

AnEUploidy is the acronym of an Integrated Project (IP) funded by the European Commission within its Sixth Framework Programme. This project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. This second workshop will allow colleagues to share views, advancements, and ideas.
For further details

International Meeting on Fibrous Dysplasia of Bone/McCune-Albright Syndrome: Best Clinical Practice and Future Research
Date: 3-5 October 2010
Venue: Bethesda, Maryland, USA

This conference will gather experts to develop a consensus on the best current medical and surgical treatment of fibrous dysplasia, MAS and Cherubism, to define areas of focus for future research, and to establish parameters for a registry/bio repository to aid research. Participants in the meeting include paediatric and adult orthopaedic specialists, cranio facial surgery, plastic surgery, endocrinology, and specialists in stem cells, microbiology and pathology from the USA, Israel, Italy, and Taiwan.
For further details

2nd European Rett Syndrome Conference
Date: 7-10 October 2010
Venue: Edinburgh, Scotland

Sessions include clinical and molecular update on MECP2 and Rett Syndrome; non coding RNAs & brain development; lessons from other diseases and other models; treatments and trials; outcome measures, international collaborations; and current perspectives and next steps.
For further details

15th International Congress of World Muscle Society
Date: 12-16 October 2010
Venue: Kumamoto, Japan

The main topics to be addressed include new therapeutic targets for neuromuscular disorders; congenital muscular dystrophies (celebrating the 50th anniversary of Fukuyama congenital muscular dystrophy); and distal myopathies and protein aggregation myopathies.
For further details

26th Annual Meeting of the Histiocyte Society
Date: 18-20 October 2010
Venue: Boston, Massachusetts USA

This year’s scientific programme will feature presentations by several experienced researchers regarding a variety of perspectives on the histiocytic disorders. Deadline for abstract submissions: 17 May 2010.
For further details


Press & Publications

New text focuses on rare plasma related disorders
Rare Diseases: Focus on Rare Plasma Related Disorders provides an international overview of issues relating to rare plasma related disorders. Unlike many rare diseases, which cannot be diagnosed or appropriately treated, most rare plasma related disorders are treatable, but unacceptable diagnosis rates or misdiagnosis often means that treatment begins too late, or not at all. Rare diseases have been identified as one of the ongoing priorities in the EU Public Health Programme. Cooperation and collaboration among Member States will facilitate the bringing together of scarce and fragmented resources from across the EU and enable patients and professionals to share and coordinate expertise and information. This volume features contributions by leading specialists and key stakeholders. They serve to highlight the priorities pertaining to this community and to identify the solutions and actions necessary to ensure that patients affected by rare plasma related disorders receive appropriate treatment in a timely manner to help them lead normal, happy and productive lives. Some of the conditions discussed include: Alpha-1 Antitrypsin Deficiency; C1 inhibitor deficiency; Guillain-Barre syndrome; Haemophilia; Idiopathic Thrombocytopenic Purpura and Primary Immunodeficiencies. The political, regulatory and legislative frameworks are also explored.

Title: Rare Diseases: Focus on Rare Plasma Related Disorders
Author: J.L. Valverde -Ed
Publisher: IOS Press
ISBN: 978-1-60750-055-1


Orphanews Europe, the newsletter of the Rare Diseases Task Force
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 Rare Diseases Task Force
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