21 December 2011 print
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2011 draws to a close on a note of optimism as the pace of rare disease research quickens and initiatives move forward on several fronts

2011 was a satisfyingly busy year for the rare disease and orphan drug community which saw several major initiatives move forward efforts to understand, diagnose and treat rare diseases. Members of the European Union Committee of Experts on Rare Diseases (EUCERD) were grateful to play a pivotal role in several key areas, including participation in the International Rare Disease Research Consortium (IRDiRC), a recently-formed initiative that brings together international regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals to harmonise, coordinate and accelerate research.

The EUCERD contributed several key documents this year, including the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States which guides European Union (EU) Member States (MS) in the development of centres of expertise, and the sweeping three-part 2011 Report on the State of the Art of Rare Diseases Activities in Europe. The EUCERD priorities also focused on issues relating to registries for rare diseases, health indicators, and reference networks. EUCERD has recently put several new reports online including the EUCERD/EMA Workshop Report of 4 October 2011 and the EUCERD 3rd Meeting Public report

National and European policy developments

On the political front, there were many noteworthy events this year. The International Rare Disease Day, created, organised and promoted by European rare disease patient umbrella group Eurordis, virtually exploded in 2011 with a frenzy of activity around the world. Held the last day of February, this year's event was celebrated in 55 countries - up from 46 in 2010, 30 in 2009 and 18 the first year. Newcomers included Armenia, Iran, Mexico, Morocco, Nepal, Panama, Peru, Thailand, the United Arab Emirates, and Uruguay. The special day for rare disease patients, their families and all those who are involved in rare disease research, policies, treatment and care was the occasion for several significant actions.

At the European level, the long-awaited (and much debated) Cross-Border Healthcare Directive was adopted this year on Rare Disease Day, facilitating cooperation and improving equity in access to rare disease diagnostics and treatments throughout the European Union (EU). Also published on Rare Disease Day, the European Awareness of Rare Diseases Report presented the results of a Eurobarometer survey gauging the awareness for rare conditions as well as the level of public support for European-level measures. The survey, in the form of questionnaire, was undertaken in each of the 27 European Union Member States, with approximately 1000 citizens from each country participating, for a total of 26,574 interviews. While there were “significant differences” in awareness between the Member States, some “…95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State”.

At the national level, Rare Disease Day was also the occasion for unveiling the Second French National Plan for Rare Diseases. Building on the achievements of France’s first National Plan for Rare Diseases – which as the first of its kind in the world, has become an international model – the second plan is streamlined to perform as efficiently as possible, with three central axes: Improving the quality of patient care; Developing rare disease research; and Expanding European and International cooperation. Other advances in the development of rare disease national strategies, which the Council Recommendation on an Action in the Field of Rare Diseases urges EU member States to accomplish by the end of 2013, include the issue of the final report Recommendations and Proposed Measures for a Belgian Plan for Rare Diseases, which was submitted to the Belgian Minister of Social Affairs and Public Health in October. Meanwhile, Austria, Poland, Serbia, Slovenia and Sweden have recently embarked upon the process of developing a national plan for their rare disease patients, and Switzerland is moving forward a project to develop a national strategy for reimbursing rare disease medicinal products.

Other key developments in Europe in 2011 include the launch of the EU Clinical Trials Register, allowing public access to information on any of the thousands of authorised clinical studies for medicinal products in the EU. Rare disease patient organisations and researchers campaigned for such a mechanism for years, in order to reduce duplication of effort and allow patients to see what progress is being made in their specific areas. The Clinical Trials Register provides information on clinical trials for medicinal products either with or without a marketing authorisation and offers access to information extracted from EudraCT - the database for all clinical trials commencing in the Community from 1 May 2004 onwards and only accessible to national drug agencies up to now.

Another triumph this year was the official recognition of clinical genetics as a specialty in the EU. Such recognition is critical both for the training of professionals and the organisation of related services. Only a few EU countries have not yet officially recognised clinical genetics as a specialty. The respective EC Regulation No 213/2011 amending Annexes II and V to Directive 2005/36/EC of the European Parliament and of the Council on the recognition of professional qualifications entered into force on 4 March 2011.

EMA, orphan drugs, and the biopharmaceutical industry

In the area of orphan drugs, the Committee for Orphan Medicinal Products of the European Medicines Agency issued 111 positive opinions for orphan designation. In 2011, 97 orphan designations have to date been granted by the Commission. Five orphan drug products received marketing authorisation in 2011. Also, the EMA this year issued its first positive opinion specifically for a paediatric marketing authorisation. The EMA also geared up a process in 2011 that would make prevalence figures for rare disease products transparent.

There were also positive actions on the part of industry, with several of the “big pharma” companies taking an active interest in orphan medicinal products and adding to their portfolio strategies. Meanwhile, many innovative advances were also seen from the cutting-edge small and medium-sized enterprise sector. The increasing involvement on the part of the biopharmaceutical industry is exciting news for academic researchers, health professionals, and patients.

Orphanet in on the action

In 2011, the Orphanet Joint Action launched the rare disease and orphan drug information portal into a new dimension. This instrument, which combines funding from the European Commission with each of the participating Member States, as well as from Switzerland, a collaborating partner, permits Orphanet to improve its offer in the EU and beyond. Another exciting development for Orphanet in 2011 was a partnership developed with Canada, extending Orphanet across the Atlantic for the first time. Negotiations are also ongoing with Japanese and Chinese stakeholders to explore the possibility of launching Orphanet into Asia, as well as with Brazil and Australia.

Other advancements in which Orphanet participated include its ongoing work with the Topic Advisory Group (TAG) for Rare Diseases for the World Health Organization, in the revision of the International Classification of Diseases, to produce its eleventh version (ICD-11). The main purpose of the TAG for Rare Diseases is to enhance the visibility of rare diseases in information systems using the ICD - notably for patient coding. Rare diseases have now been included in almost all the chapters of the ICD in preparation.

2011 rare disease funding opportunities

In July 2011, the European Commission released the content of its new call for proposals, which opened several opportunities for rare diseases. Other funding resources for rare diseases include E-Rare, the ERA-Net on rare diseases, supported by the European Commission ERA-Net scheme under the Seventh Framework Programme. This network of sixteen partners – public bodies, ministries and research funding organisations – from twelve countries announced the results of its third Joint Transnational Call in late 2011. Funding bodies from nine countries joined this call. Thirteen consortia were selected for funding. The rare disease areas of the chosen projects include haematology, metabolic diseases, neurology, dermatology, and congenital malformations. Therapeutic approaches include pluripotent stem cells, gene therapy vectors and customised animal models. There were also many calls for proposals in 2011 in specific rare disease areas and at the national level, such as the notable triumph for France with the funding of the Paris-based Imagine Institute of Genetic Diseases via the French government's University Hospital Institute (UHI) scheme. The Imagine project focuses on understanding the mechanisms involved in genetic diseases and seeks to accelerate the development of new diagnostic and therapeutic solutions.

A critical issue that arose in 2011 and needs further consideration is how to meet the need for sustainable funding for European rare disease networks, which are typically funded for a three- to five-year period. Several ideas are under discussion on how to accomplish this.

The rare disease community can indeed be hopeful and triumphant looking back on all that has been achieved this year. Wishing all its readers a peaceful end of year, OrphaNews Europe looks forward to an equally exciting 2012.

Thank you to Pr. Kenneth G. Libbrecht at CalTech for lending OrphaNews Europe his enchanting snowflake photographs

EUCERD update
Warm holiday wishes from the European Union Committee of Experts on Rare Diseases


EU Policy News

New report on clinical added value of orphan drugs in the EU now available
An Ernst and Young study on the Clinical Added Value of Orphan Drugs (CAVOD) was made public last month. The CAVOD study, produced following the issue of call for tender n° EAHC/2010/Health/05 in 2010, seeks to identify and assess possible options for creating a mechanism for the exchange of knowledge between Member States (MS) and European authorities on the scientific assessment of the relative effectiveness of orphan medicines. The European Union Committee of Experts on Rare Diseases (EUCERD) is considering carefully the data provided by the CAVOD report and will issue a recommendation on the implementation of the CAVOD process in order to best harmonise and coordinate health technology assessment for orphan drugs, capitalising on mechanisms already in place at the MS level and at EU-level structures, such as the European Medicines Agency and the EUnetHTA network.
Consult the CAVOD report

DG Sanco issues 2012 Work Plan; related calls for proposals now open
The 2012 Work Plan of the Health Programme adopted on 1 December 2011 was published in the Official Journal of the European Union on 8 December. It sets the annual priorities for implementation of the EU Health Programme. Based on this decision, the Executive Agency for Health and Consumers (EAHC) has launched the calls for proposals for joint actions, operating grants, projects and conference grants. Of note to the rare disease community is the Support for European rare diseases information networks project call. The deadline for submitting an application in any one of these actions is 9 March 2012.
Learn more


National & International Policy Developments
« Ultra-orphan » Act proposes fast-track incentives for low-prevalence rare diseases in the USA
Many stakeholders are reticent to carve up rare diseases into “orphan” and “ultra orphans” according to prevalence. There is a very real fear that diluting the lobbying power that rare disease stakeholders have worked hard to achieve by closing ranks could leave some rare diseases out of the loop. Despite this, a proposed legislative measure gathering force in the USA seeks to promote low prevalence rare diseases, which the bill promoters assert garner less attention from potential drug developers. The Ultra-orphan Life Saving Treatment Act of 2012 (ULTRA Act) would cover 83% of all rare diseases, according to a fact sheet. Citing a disease prevalence of 6000 or less (in the USA) the ULTRA Act would tweak the regulatory system, facilitating an accelerated approval system from the FDA for very low prevalence diseases. According to the fact sheet, the ULTRA Act would provide the FDA “…with the tools necessary to allow for alternative qualification criteria for the rarest diseases that could never have prior clinical data”.
Consult the Fact Sheet
Consult the proposed legislation

Spanish rare disease research network Ciberer issues 2010 activity report and defines its strategy for 2012

The Centre for Biomedical Network Research on Rare Diseases (CIBERER) is a Spanish public consortium whose mission is to promote, execute and transfer research on rare diseases. Results of the 2010 Ciberer’s research activities, which are organised into seven programmes (Genetic Medicine, Inherited Metabolic Medicine, Mitochondrial Medicine, Paediatric and Developmental Medicine, Neurosensorial Pathology, Endocrine Medicine and Inherited Cancer and Related Syndromes) are presented in the 2010 Scientific Report. The report describes and updates the activity of each of the research groups that comprise the Centre, including their research lines, training and dissemination activities, scientific publications, ongoing projects, clinical trials and clinical guidelines.
Consult the 2010 Scientific Report

Ciberer has also defined its strategy for 2012, which has been designed to reinforce compliance with the objectives laid down in the Rare Disease Strategy of the Spanish National Health System and follows the main lines drawn and executed through the 2011 plan of action, while taking into account and accommodating budget cuts. The proposed action plan for 2012 emphasises translation and transfer of research and knowledge and includes two new structures: the Platform of Bioinformatics for Rare Diseases (BIER), whose main mission is to cooperate with the experimental groups working with genomic data for its analysis and interpretation; and the Neurogenetics platform, which will provide service performing genetic analysis of rare inherited neuropathies. Another novelty featured in the Ciberer 2012 Action Plan is the call for Cooperative and Complementary Intramural Actions (ACCI), intended to foster cooperative research with an internal but competitive call for which transfer and translative components will be criteria for the funds assignment.

Revised screening standards for sickle cell disease and thalassaemia in the UK
In the United Kingdom, the National Health Service has revised its screening programme standards for sickle cell disease and thalassaemia, according to a report from the PHG Foundation, which notes that the revised screening standards provide new material relating to objectives and performance indicators and will take effect from April 2012.
Learn more

Other International News
Parlez-vous genetics?

A French-English genetics lexicon was unveiled at the International Congress of Human Genetics in Montreal in October. The bilingual website www.lexigene.com contains a lexicon of genetics terminology in French and English languages. This online tool, containing over 3500 terms, is particularly useful for genetic counsellors, geneticists, and all those working in the field of genetics in English and French languages. Besides the matching search term, the Lexigene results page includes all related terms. The lexicon is divided into twelve categories of terms. It is possible to download an English or French language document containing all the words in a specific category, presented in alphabetical order, for offline use and reference. Lexigene was created by the "Small Project Grant 2009-2011" award recipients of the Canadian Association of Genetic Counsellors (CAGC) (Mireille Cloutier, Julie Hathaway, William and Rachel Vanneste Furrow). Maintenance and updates to the Lexigene website are coordinated and funded by the CAGC. Lexigene is adapted from the Orphanet glossary developed during the 1990s.

First rare disease summer school for Russian stakeholders brings awareness of the added-value of rare disease initiatives

The first Rare Diseases Summer School designed for Russian stakeholders, co-organised by stakeholders from Russia, Bulgaria and Italy took place in September, allowing Russian policy and decision makers the possibility to learn more about rare disease topics and to understand the significant added-value that rare diseases actions and measures bring to the table. The participants came from a wide range of public fields – federal and regional legislative bodies and health authorities, leading medical institutions, academia, patient organisations and the pharmaceutical industry. The week-long event, which covered a variety of topics including centres of expertise, orphan drugs, registries, and national plans, was considered a success by attendees, who reported feeling much better informed on the needs of rare disease patients by the end of the training. A course is being planned for 2012.

Taiwan faces destruction of millions of biospecimens; and helps a rare disease patient from China
The potential destruction of millions of biomedical samples in Taiwan brings home the crucial issue of consent. As reported in the China Post, all biospecimen and biological data must be accompanied by written consent from participants. Those samples without such consent are scheduled to be destroyed in February 2012. According to the news report, researchers from the country’s largest research institute are protesting the move, pleading that the destruction of samples and stored genetic material will stymie ongoing and future research. Biospecimens and genetic data are particularly crucial to rare diseases; which often do not have large patient populations. In other news from the region, it has been reported that a Taiwanese hospital has provided treatment for a five-year-old girl from China suffering from a rare congenital urea cycle defect after the parents were unable to obtain adequate treatment in China. Via charitable contributions, the Taiwanese paediatrician treating the child will be able to provide the family with a prescription that will stabilise the condition for about two years. The parents have already lost one child to the same condition. This case illustrates that issues around cross-border healthcare for rare disease patients extend beyond Europe!

Ethical, Legal & Social Issues

Stem cell patent ban draws mixed responses from researchers in Europe
In October, the European Court of Justice officially banned the issuance of patents for embryonic stem cell research. Citing ethical reasoning, the ruling is designed to prevent the commercial exploitation of discoveries stemming from the destruction of human embryos. European scientists have expressed fear that the decision will steer researchers away from Europe toward the USA, China and other parts of the world. However, a news article appearing in Nature evokes the “silver lining” of the ruling, pointing out that researchers will be able to work without fear of patent infringement actions. The article quotes one researcher who goes as far as to speculate that …“The ruling may even turn out to be a boon for European stem-cell science … an anything-goes atmosphere that could attract scientists from abroad”. Not all stakeholders are optimistic, however.

EU Project Follow-up
Network of Excellence CliniGene releases video on gene therapy
The European Network for the Advancement of Clinical Gene Transfer and Therapy, CliniGene, is a European Network of Excellence (NoE) focused on the advancement of clinical gene transfer & therapy by fostering interaction between all stakeholders in order to facilitate and help harmonise ethical, quality, efficacy and regulatory issues. Gene therapy is a promising treatment strand for rare monogenic diseases. CliniGene has made available on its website a 20 minute video entitled Gene Therapy: A New Tool to Cure Human Diseases. This freely accessible video is designed to facilitate the understanding of how gene therapy works, its possible applications, and challenges in the field.
Watch the CliniGene video


Orphanet News
The Orphanet annual online survey seeks feedback to make the rare disease and orphan drug information portal the best it can be!

At the end of each year, Orphanet, the pan-European rare disease and orphan drug information portal for professionals and patients, asks its users to take five minutes to complete a brief online survey. Orphanet wants its resources to be useful and adapted to the needs of all its users. Please visit the Orphanet homepage in one of six European languages: English , French , German , Italian , Portuguese and Spanish and complete the survey. Your opinion is important!

New Texts
New Orphanet Journal of Rare Diseases publications

A rare bladder cancer - small cell carcinoma: review and update
The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency
Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Type 1 autoimmune pancreatitis
Laryngo-tracheo-oesophageal clefts
Renal coloboma syndrome (Published in the European Journal of Human Genetics Practical Genetics series, in association with Orphanet).


New Syndromes

Hypermethioninaemia, encephalopathy, and abnormal liver function caused by adenosine kinase deficiency
Hypermethioninaemia can represent an early sign of a severe, progressive neurodevelopmental disorder. The authors describe a new inborn error of metabolism causing hypermethioninaemia. They studied two siblings affected by a severe, slowly progressive encephalopathy with epilepsy, macrocephalus/frontal bossing and liver dysfunction. Biochemical analysis revealed increased plasma levels of methionine, S-adenosylmethionine, and S-adenosylhomocysteine but normal or mildly elevated homocysteine levels, indicating a block in the methionine cycle. Having excluded S-adenosylhomocysteine hydrolase deficiency, they authors identified a homozygous c.902C>A (p.Ala301Glu) missense mutation in the adenosine kinase gene (ADK). Increased urinary adenosine excretion confirmed ADK deficiency in the siblings. Four additional individuals from two unrelated families with a similar presentation were identified and shown to have a homozygous c.653A>C (p.Asp218Ala) and c.38G>A (p.Gly13Glu) mutation, respectively, in the ADK gene.
Read the PubMed abstract

Am J Hum Genet ; 7 October 2011 ; 507-515
A syndrome of neonatal-onset inflammatory skin and bowel disease linked to ADAM17 loss-of-function mutation
In a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions, the authors found a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumour necrosis factor α [TNF-α]-converting enzyme, or TACE). Clinical features involved the skin, gut, hair, and nails. Despite skin and gut problems, both children developed normally, but the girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis. On subsequent investigation, the boy was found to have left ventricular dilatation. Peripheral-blood mononuclear cells obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1β and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, the young man has led a relatively normal life.
Read the PubMed abstract

N Engl J Med ; 1502-1508 ; 20 October 2011
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus
The authors describe a father and his daughter presenting an association of bilateral 3-4 finger cutaneous syndactyly and nystagmus. Both patients carry a 3.8 Mb duplication at 2q31.1-q31.2 involving 27 genes, among which the entire HOXD cluster. This mild phenotype differs from mesomelic dysplasia type Kantaputra, which is associated with smaller duplications of the same region. Expression studies in the father and daughter lymphoblasts showed an HOXD13 and HOXD10 overexpression, whereas the HOXD12 expression was decreased in the daughter lymphoblasts. HOXD13 and HOXD10 overexpression, associated with a misregulation of at least HOXD12, may be responsible for the syndactyly.
Read the PubMed abstract

Eur J Hum Genet ; 1198-1201 ; November 2011
Megacystis, megacolon, and malrotation may be a new syndromic association
The authors report on a series of patients with megacolon, megacystis, and malrotation. One of the patients carries a de novo duplication of chromosome 12, suggesting a new syndromic association.
Read the PubMed abstract

Am J Med Genet ; 1798-1802 ; August 2011

New Genes

Isolated NADH-CoQ reductase deficiency: a nonsense NDUFA12 mutation identified in a patient
Read the PubMed abstract
To read more about "Isolated NADH-CoQ reductase deficiency"

J Med Genet ; 737-740 ; November 2011
Neural tube defects: association of mutations in the planar cell polarity gene, Fuzzy
Read the PubMed abstract
To read more about "Neural tube defect"

Hum Mol Genet ; 4324-4333 ; 15 November 2011
Juvenile amyotrophic lateral sclerosis: a sigma-1 receptor mutation at cause in a family with autosomal recessive inheritance
Read the PubMed abstract
Ann Neurol ; Epub ahead of print ; 12 August 2011
Restrictive cardiomyopathy: mutations in sarcomere genes TPM1, MYL2, and MYL3 can be associated
Read the PubMed abstract
To read more about "Restrictive cardiomyopathy"

Am J Med Genet ; 2229-2235 ; September 2011
Melanoma and renal cell carcinoma: a SUMOylation-defective MITF germline mutation predisposes to both cancers
Read the PubMed abstract
To read more about "Familial melanoma"
To read more about "Renal cell carcinoma"

Nature ; Epub ahead of print ; 19 October and 13 November 2011

Research in Action

Fundamental Research
Proximal spinal muscular atrophy: intrinsic pathology of skeletal muscle is an important event, reversible in a mouse model
Read the PubMed abstract
To read more about "Proximal spinal muscular atrophy"

Hum Mol Genet ; 4334-4344 ; 15 November 2011
Glycogen branching enzyme deficiency: a novel mouse model recapitulates early and adult onset diseases
Read the PubMed abstract
To read more about "Glycogen branching enzyme deficiency"

Hum Mol Genet ; 4430-4439 ; 15 November 2011
Shwachman-Diamond syndrome: defective ribosome biogenesis underlies the pathogenesis
Read the PubMed abstract
To read more about "Shwachman-Diamond syndrome"

Blood ; 4305-4312 ; 20 October 2011
Rett syndrome: MeCP2 mutations affect large scale chromatin organisation
Read the PubMed abstract
To read more about "Rett syndrome"

Hum Mol Genet ; 4187-4195 ; 1 November 2011
Huntington disease: H2AFY is a potential biomarker associated with disease activity and pharmacodynamic response
Read the PubMed abstract
To read more about "Huntington disease"

PNAS ; 17141-17146 ; 11 October 2011
Sandhoff disease: rAAV2/1-Hex gene therapy improves outcome by preventing neuronal loss in the brain of model mice
Read the PubMed abstract
To read more about "Sandhoff disease"

Hum Mol Genet ; 4371-4380 ; 15 November 2011
Clinical Research
Immune thrombocytopenic purpura: 2-year results of a compassionate-use programme confirm safety and efficacy of romiplostim
Compassionate use of romiplostim (a thrombopoietic agent) for immune thrombocytopenia (ITP) was allowed in France in January 2008. ITP patients could receive romiplostim when they failed to respond to successive corticosteroids, intravenous immunoglobulins, rituximab, and splenectomy, or when splenectomy was not indicated. There were no criteria based on comorbidities. The authors present results for 72 patients with at least 2 years of follow-up. Primary platelet response was observed in 74% of all patients; 47 (65%) patients had 2 years responses (79% of them had sustained platelet responses). The most frequently reported adverse events were: arthralgias (26%), fatigue (13%), and nausea (7%).
Read the PubMed abstract

To read more about "Immune thrombocytopenic purpura"

Blood ; 4338-4345 ; 20 October 2011
Primary amyloidosis: long-term results after high-dose melphalan and autologous stem cell transplantation for 421 patients
Read the PubMed abstract
To read more about "Primary amyloidosis"

Blood ; 4346-4352 ; 20 October 2011
Neurofibromatosis type 1: reduction in life expectancy found to be around eight years in a British study
Read the PubMed abstract
To read more about "Neurofibromatosis type 1"

Eur J Hum Genet ; 1187-1191 ; November 2011
Pulmonary hypertension: epidemiology and characterisation of paediatric cases in the Netherlands
Read the PubMed abstract
To read more about "Rare pulmonary hypertension"

Circulation ; 1755-1764 ; 18 October 2011
Craniopharyngioma: use of combined search criteria improved validity of case retrieval in a general disease registry
Read the PubMed abstract
To read more about "Craniopharyngioma"

J Clin Epidemiol ; 1118-1126 ; October 2011
Ovarian cancer: BRCA2 mutation associated with improved survival, chemotherapy response, and genome instability
Read the PubMed abstract
To read more about "Hereditary breast and ovarian cancer syndrome"

JAMA ; 1557-1565 ; 12 October 2011
Autosomal recessive nonsyndromic intellectual deficit: 11 novel loci identified, confirming high heterogeneity
Read the PubMed abstract
To read more about "Autosomal recessive nonsyndromic intellectual deficit"

Eur J Hum Genet ; 1161-1166 ; November 2011
Stem Cells

Alpha-1 antitrypsin deficiency: proof of principle for combining induced pluripotent stem cells and targeted gene correction
Read the PubMed abstract
To read more about "Alpha-1 antitrypsin deficiency"

Nature ; 391-394 ; 20 October 2011
Gene Therapy
B-cell leukaemias: promising results with chimeric antigen receptor-modified T cells in advanced CLL or relapsed ALL
Two groups recently published pilot study results relating use of adoptive immunotherapy in advanced chronic B-cell lymphocytic leukaemia (CLL) or relapsed B-cell acute lymphoblastic leukaemia (ALL). Patients received autologous T cells engineered to express second generation chimeric antigen receptors (CARs) with specificity for the B-cell antigen CD19. A team from the University of Pennsylvania designed a lentiviral vector expressing a chimeric antigen receptor with specificity for CD19, coupled with CD137 (4-1BB, a costimulatory receptor in T cells) and CD3-zeta (a signal-transduction component of the T-cell antigen receptor) signaling domains. Low doses of autologous chimeric antigen receptor-modified T cells were reinfused into three patients with advanced CLL. The engineered T cells expanded >1000-fold, and continued to express functional CARs at high levels for at least 6 months. Evidence for on-target toxicity included B cell aplasia as well as decreased numbers of plasma cells and hypogammaglobulinaemia. On average, each infused CAR-expressing T cell was calculated to eradicate at least 1000 CLL cells. Two patients had a complete remission (lasting at least 10 months) and the third patient had a partial response. The second team, at Sloan Kettering Cancer Center in New York, treated nine patients with autologous T cells modified to express 19-28z CARs (which include transmembrane and cytoplasmic signaling domains of the T-cell costimulatory CD28 receptor). Eight patients had chemotherapy-refractory CLL and one had relapsed B-cell ALL. Three of four evaluable patients with bulky CLL who received prior conditioning with cyclophosphamide exhibited either a significant reduction or a mixed response in lymphadenopathy without concomitant development of B-cell aplasia. In contrast, the patient with relapsed ALL who was treated in remission developed a predicted B-cell aplasia. The short-term persistence of infused T cells was enhanced by prior cyclophosphamide administration and inversely proportional to the peripheral blood tumour burden. Read the PubMed abstract
To read more about "Chronic B-cell lymphocytic leukemia"
To read more about "Precursor B-cell acute lymphoblastic leukemia"

Sci Transl Med ; 95ra73 ; 10 August 2011
New Engl J Med ; 725-733 ; 25 August 2011
Blood ; 4817-4828 ; 3 November 2011
Leber congenital amaurosis: safety and efficacy of gene therapy in 15 children and adults followed up to 3 years
The authors evaluated subretinal injection of recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene. 15 patients with Leber congenital amaurosis caused by RPE65 mutations (range, 11-30 years of age) received different doses, with two different injection strategies. Three-year follow-up showed that the treatment was sufficiently safe and substantially efficacious in the extrafoveal retina. There was no benefit and some risk in treating the fovea. No evidence of age-dependent effects was found.
Read the PubMed abstract

To read more about "Congenital Leber amaurosis"

Arch Ophthalmol ; Epub ahead of print ; 12 September 2011
Hutchinson-Gilford progeria syndrome: remarkable effects of splicing-directed therapy in a new mouse model
Hutchinson-Gilford progeria syndrome (HGPS) is caused by a point mutation in the LMNA gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called progerin. The authors generated a genetically modified mouse strain that carries the precise HGPS mutation. These mice phenocopy the main clinical manifestations of human HGPS, including shortened life span and bone and cardiovascular aberrations. The authors also developed an antisense morpholino-based therapy that prevents the pathogenic LMNA splicing, markedly reducing the accumulation of progerin and its associated nuclear defects. Treatment of mutant mice with these morpholinos led to a marked amelioration of their progeroid phenotype and substantially extended their life span. Read the PubMed abstract
To read more about "Hutchinson-Gilford progeria syndrome"

Sci Transl Med ; 106ra107 ; 26 October 2011
Cystic fibrosis: pre-clinical evaluation of three non-viral gene transfer agents after aerosol delivery to the ovine lung
Three non-viral gene transfer agents (GTAs) were tested: 25 kDa-branched polyethyleneimine (PEI), the cationic liposome (GL67A) and compacted DNA nanoparticle. GTAs were complexed with plasmids expressing human cystic fibrosis transmembrane conductance regulator (CFTR) complementary DNA. GL67A gave the highest levels of expression. Human CFTR protein was detected in small airway epithelial cells in some animals treated with GL67A (two out of eight) and PEI (one out of eight). Gene delivery was associated with mild local and systemic inflammation.
Read the PubMed abstract

To read more about "Cystic fibrosis"

Gene Ther ; 996-1005 ; 18 October 2011
Therapeutic Approaches

Glioblastoma: targeted nanoparticle enhanced proapoptotic peptide shows promise in mouse models
Read the PubMed abstract
To read more about "Glioblastoma"

PNAS ; 17450-17455 ; 18 October 2011
Glioma: epileptic activity can be reduced by a drug blocking a glutamate transporter in glioma-bearing mice
Read the PubMed abstract
To read more about "Glial tumor"

Nat Med ; 1269-1274 ; October 2011
Rapidly progressive glomerulonephritis: targeting the HB-EGF-EGFR pathway could be beneficial
Read the PubMed abstract
Nat Med ; 1242-1250 ; October 2011
Diagnostic Approaches

Duchenne and Becker muscular dystrophies: comprehensive mutational search using next-generation sequencing technology
Read the PubMed abstract
To read more about "Becker muscular dystrophy"
To read more about "Duchenne muscular dystrophy"

J Med Genet ; 731-736 ; November 2011

Patient Management and Therapy
Primary cutaneous CD30+ lymphoproliferative diseases: international consensus recommendations for disease management
Primary cutaneous CD30+ lymphoproliferative disorders include lymphomatoid papulosis and primary cutaneous anaplastic large-cell lymphoma. A multidisciplinary expert panel of the Cutaneous Lymphoma Task Force of the European Organization for Research and Treatment of Cancer (EORTC), the International Society for Cutaneous Lymphomas (ISCL), and the United States Cutaneous Lymphoma Consortium (USCLC) elaborated recommendations based on a literature analysis and discussions. They include diagnostic criteria, staging, treatment, as well as definitions for clinical endpoints and response criteria for future clinical trials.
Read the PubMed abstract

To read more about "Primary cutaneous CD30+ lymphoproliferative disease"

Blood ; 4024-4035 ; 13 October 2011
Angiosarcoma: state of the art and perspectives
The authors propose a literature review of available data on angiosarcoma (AS). Two risk factors are chronic lymhoedema and previous radiotherapy. Clinical presentations of AS are heterogeneous. Large resection followed, if possible, by adjuvant radiotherapy is the cornerstone of curative intent treatment of localised forms. There are no convincing data supporting the administration of adjuvant chemotherapy. For metastatic or locally advanced AS, doxorubicin and weekly paclitaxel seem to provide longer progression-free survival.
Read the PubMed abstract

To read more about "Angiosarcoma"

Crit Rev Oncol Hematol ; 257-263 ; November 2011
Three new Clinical Utility Gene Cards available
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published three new Clinical Utility Gene Cards for:
Dyskeratosis congenita
Aarskog–Scott syndrome (faciogenital dysplasia)
Haemophilia A


Orphan Drugs

The COMP wraps up 2011 with nine positive opinions in December recommending orphan designation
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted nine positive opinions recommending orphan designation at the December 2011 COMP meeting for the treatment of:

- West syndrome
- squamous cell carcinoma of the head and neck in patients undergoing radiotherapy
- amyotrophic lateral sclerosis
- carbamoyl-phosphate synthase-1 deficiency
- citrullinaemia type 1
- ornithine transcarbamylase deficiency
- X-linked chronic granulomatous disease
- familial amyloid polyneuropathy
- pemphigus

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

FDA approves two rare disease treatments and takes heat from consumer group for approving another
In the USA, the Food and Drug Administration approved Erwinaze (asparaginase Erwinia chrysanthemi) to treat patients with acute lymphoblastic leukaemia, who have developed a hypersensitivity to E. coli derived asparaginase and pegaspargase chemotherapy drug treatments. Erwinaze is manufactured by EUSA Pharma Inc. The FDA also recently approved Jakafi (ruxolitinib), the first drug approved to specifically treat patients with the bone marrow disease myelofibrosis. Jakafi is manufactured by Incyte Corp. As was reported in the 16 November issue of OrphaNews Europe, the FDA also recently approved Ferriprox (deferiprone) from ApoPharma Inc to treat iron overload due to blood transfusions in patients with thalassaemia who had an inadequate response to prior chelation therapy. However, consumer organisation Public Citizen has launched a campaign protesting the approval of deferiprone, arguing that safety and efficacy data are lacking, that the manufacturer failed to conduct an additional prospective, randomised, controlled study as requested by the FDA and that the federal agency "acquiesced to pressure" from ApoPharma.

Clinical pharmacology as a cornerstone of orphan drug development
A commentary appearing in Nature Reviews Drug Discovery highlights the potential of a clinical pharmacology framework to meet the challenges of orphan drug development. The authors, many of whom are with the Office of Translational Sciences of the FDA’s Center for Drug Evaluation and Research, identify the need for early collaboration between all rare disease stakeholders in the drug development process, transparent communication, between drug developers and regulators, and suggest building on the existing paradigms for oncology and paediatrics.
Consult the PubMed abstract


Courses & Educational Initiatives

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

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

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

The European School of Genetic Medicine celebrates its 25th anniversary with special courses
The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open, including: Basic and Advanced Course in Genetic Counselling in Practice (14-20 April 2012); Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012); 25th Course in Medical Genetics (20-25 May 2012). All ESGM courses can be followed live on the Internet through webcasting.
For further details

Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. The 2012 Clinical Cytogenetics course has not yet been announced.
For further details

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

Orphan Academy 2012 Programme
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

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


What's on Where?

2nd Annual Optimising Orphan Drug Development Conference
Date: 18-19 January 2012
Venue: Lyon, France

This commercial event will focus on how to gain access to new geographically markets. It will cover updates on pricing and reimbursement strategies, how to improve clinical trial development plans and examine the challenges faced with paediatric drug development. This conference will also address the role of patient advocacy groups and how to run patient registries efficiently whilst examining novel data capture methods. Understanding how to translate data to clinical trials will accelerate orphan drug development to market, gain market exclusivity thereby keeping companies ahead of competitors.
For further details

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

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

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

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

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

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

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

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

Genomic Disorders 2012
21-24 March 2012
Cambridge, UK

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

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

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

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

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

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

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

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

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

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

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

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

Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
For further details

6th European Conference on Rare Diseases & Orphan Products
Date: 23-25 May 2012
Venue: Brussels, Belgium

The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian. The date for abstract submissions is 15 January 2012.
For further details

10th International primary hyperoxaluria workshop
Date: 22-23 June 2012
Venue: Bonn, Gemany

A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hypyeroxaluria.
For further details

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

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

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

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

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

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

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

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

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

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


Press & Publications

New monograph from the European Respiratory Society focuses on orphan lung diseases
The European Respiratory Monograph is the quarterly book series produced by the European Respiratory Society. Each Monograph covers a specific area of respiratory medicine, providing in-depth reviews that give clinicians at all levels a concise, comprehensive guide to symptoms, diagnosis and treatment. Orphan Lung Diseases, the latest monograph, provides a comprehensive, clinically focused textbook on rare pulmonary diseases. The book is oriented toward diagnostic approaches, including manifestations suggesting the disease, diagnostic criteria, methods of diagnostic confirmation, and differential diagnosis. An overview is also provided into the natural history, treatment and management considerations, and relevant references.
Title: Orphan Lung Diseases
Author: JF Cordier –Ed.
Publisher: European Respiratory Society, December 2011
ISBN-13: 978-1849840132

Rare diseases in an emergency setting
With growing numbers of rare disease patients surviving longer and receiving novel medical and surgical treatments, emergency services are increasingly the venue for associated acute presentations. This book focuses on unusual and complex disease presentations not covered in detail in standard textbooks, helping emergency care providers to manage patients with conditions including paediatric congenital heart disease, cystic fibrosis, intellectual disability and more. This title provides guidance on evaluation and diagnosis, and addresses practical issues of acute management and continuing referral. Individual chapters are written by high profile emergency physicians, in conjunction with appropriate specialists, and include authoritative evidence to back up the clinical information.
Title: Challenging and Emerging Conditions in Emergency Medicine
Author: Arvind Venkat –Ed.
Publisher: Wiley, August 2011
ISBN-13: 978-0470655009


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

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

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