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The 2014 European Conference on Rare Diseases & Orphan Products announces a wide-ranging and packed programme

It’s Berlin’s turn to play host to the 7th edition of the biennial European Conference on Rare Diseases & Orphan Products (8-10 May 2014) for which a packed programme was announced this month. This conference, organised by the European Organisation for Rare Diseases (EURORDIS) and DIA Europe, is the only event dedicated to providing the state-of-the-art of activities in the field of rare diseases, in areas as far ranging as research, medical and social care, and access to orphan drugs. It provides a unique forum for the rare disease community, bringing together actors from across all diseases and stakeholder groups in Europe and beyond and providing a perfect opportunity to exchange knowledge and experience.

The latest edition of this highly successful conference, which welcomes around 700 stakeholders every two years, hopes to demonstrate the importance of EU actions in the field of rare diseases and to take stock of the evolution in the field. The organisers also aim to sustain the dynamic at European level in the field by considering the future perspectives of a wide range of topics which make up the pieces of the rare diseases puzzle.

The conference programme, now available online (For further details), features parallel sessions covering the following main themes : Improving healthcare services, Knowledge generation and dissemination, Research from discovery to patients, State of the art and innovative practices in orphan products, Emerging concepts and future policies, and Beyond medical care. These sessions will provide the opportunity to share real experiences and best practices, and aim to stimulate awareness, debate and networking in an approach tailored to ensuring that everyone benefits from the lessons learned over the past two years.

The conference will be held in English and interpretation services will be provided for the Opening & Plenary Sessions (French, Spanish, German, Polish and Russian). The day before the main conference will once again be dedicated to capacity-building sessions for patient and patients’ representatives in addition to tutorials for Industry and academic participants. Plenty of networking opportunities have been integrated into the programme to ensure that participants come away with new contacts to add to their address books. Poster sessions will also provide a great opportunity for exchange of information and know-how around the main themes.

The organisers encourage all stakeholders in the rare disease community, patient representatives, policy makers, researchers, members of the Industry, payers and regulators to participate at the conference and make it a success. The programme for the conference is now available online (For further details) and registration is open (Register here).

Register now for the opportunity to be a part of this exciting event. This is the place to be for the most comprehensive and up-to-date knowledge on rare diseases and orphan products.

National & International Policy Developments
Other European news
Researchers appeal to the British public to share their medical data
The Association of Medical Research Charities in the United Kingdom has made an appeal to the public to allow researchers to access the data contained in their National Health Service medical files. Patient records are currently held by general practictioners in the UK, but soon this information will be integrated into a central National Health Service database, « care.data ». The data collected will then be accessible to researchers and to pharmaceutical companies in an anonymised format. The UK’s government is in the process of sending an informative leaflet to all 22 million households in the country to explain the plans for data sharing and explaining how residents can opt out of the this scheme. Medical research charities hope that the population will be favourable to this move and are embarking on campaigns to explain the valuable resource this data represents and its importance to avances in medical science, such as the development of treatments for rare diseases. However, the public will need to be convinced that their data will remain anonymous and will not fall into the wrong hands for this enterprise to succeed. For further details
New organization of services on Rare Disorders in Norway
There are now 10 different centres for rare disorders in Norway. They cover a broad range of diagnoses and diagnostic groups. The Norwegian Ministry for Health and care services decided to organise these centres under one national service for rare disorders. In 2013, Oslo University Hospital organised a project to establish a brand new national service, which is in function from January 2014. Now there is one National Advisory Unit on Rare Disorders (NAURD) in Norway, which oversees the ten other centres. The purpose of this co- organisation is enhanced quality of services through strengthened user participation, better coordination and cooperation, better visibility, services for more rare diagnoses and greater efficiency. The new service, NAURD, is lead by Stein Are Aksnes which will also have a web-site, which will operate the Norwegian Help-Line on Rare Disorders (+47 800 41 710). For more information and links to the different Centres for Rare Disorders visit the website
UKGTN Clinical and Scientific advisory Group recommend 60 new genetic tests to NHS
It has been previously reported that rare diseases cost the NHS over £1 million in each English region and genetic testing is deemed to benefit UK patients, NHS and the UK economy. In an effort towards cost-effectiveness, recommendations for new genetic tests are provided by UKGTN to NHS for consideration. These new genetic tests for NHS service are provided by UKGTN member laboratories for patients and /or family members seen in clinical genetics with rare conditions. It is then assessed by the UKGTN multidisciplinary working group, who are entrusted with performing evaluation of gene dossiers (submitted by a UKGTN laboratory member). The gene dossiers must contain key information about a genetic test and confirming the clinical utility of each genetic test by providing the clinical impact of each genetic test as well as the clinical consequences of not providing the test for NHS patients.. The evaluation, which is based on agreed criteria includes both qualitative and quantitative information. This report is submitted to the UKGTN Clinical and Scientific advisory Group and the approved tests are recommended to NHS. After NHS approves the tests, they are added to the NHS Directory of Genetic Disorders/Genes for Diagnostic Testing. For further details on the evaluation process

In 2013, UKGTN produced a report recommending 60 new tests, after evaluating 73 dossiers, out of which 53 are Prescribed Services and 7 are within Highly Specialized Services. Notably, 18 tests, out of the 60, were evaluated through the very rare disease process and 40 tests are expected to have less than 50 index cases per annum. The report also highlights that the funding for UK is £651,772; £609,072 is for Prescribed Specialised Services and 2,650 is for Highly Specialised Services. This report highlights that introduction of genetic tests into clinical practice not only increases the body of data available to clinical and research laboratories but also that in many cases the availability of a genetic test removes the need for other tests/procedures in the diagnostic pathway. The report makes a special note that “the recommendations contained in this report to introduce new genetic tests would not be evaluated by NICE as they fall outside the selection criteria due to their rarity.” Read the report

Other International News
First International Primary Immunodeficiencies Congress (IPIC):conference report
An impressive number of participants (more than 400) attended the 1st International Primary Immunodeficiencies Congress (IPIC) held in Estoril (Lisbon), Portugal on 7 and 8 November 2013. The congress was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and will take place every two years in the future. Its main aim is to propose a unique, muti-disciplinary international forum focusing on clinical care developments in the PID field. Several key topics including PID treatments, complications management, genetic studies and counselling, PID pathogenesis and SCID newborn screening were presented and discussed at this first event. The programme featured an array of world renowned clinical and scientific experts in the field including Prof. Amos Etzioni, Prof. Alain Fischer, Prof. Bobby Gaspar, Prof. Ricardo Sorensen, Prof. Troy Torgerson as well as Mrs. Marcia Boyle, Mrs. Jose Drabwell and Mr. Johan Prevot among many others. Key presentations given during the meeting as well as a congress report will shortly be made available on the congress website www.ipic2013.com The success of this event also lead to the announcement of the 2nd International Primary Immunodeficiencies Congress (IPIC), which will be held on 5-6 November 2015 in Budapest, Hungary. More information will be available soon at the website.

Success in implementation of Policy towards the treatment of Rare Diseases in Brazil
Following the success of the First Ibero-American Congress on Rare Diseases held in Brazil (Read the report in OrphaNews), the Ministry of Health has published a Policy that will further the cause the of Rare Disease patients, in the Federal District and other measures in the Diario Oficial Do Distrito Federal (Official Gazette of the Federal District): the official gazette of legislative exchanges in Brazil. The policy mandates several provisions for specialised health services for rare disease patients. According to this policy, treatment of rare disease patients should be followed at a reference center. However, they also maintain that in the absence or insufficiency of Centres of Reference on rare diseases, the executive branch can create the necessary centers, or enter into agreements with federal, state and local government agencies or institutions, with a view to provide these services. In addition, the document clarifies the objectives of the Reference Centers for Rare Diseases adding that their performance should follow the principles of Evidence Based Medicine and the Ministry of Health protocols for identified rare diseases. This law came into force on the date of its publication in the Diario Oficial Do Distrito Federal, whereas the government is scheduled to regulate this act within ninety days of the publication.
Read the policy in Diario Oficial Do Distrito Federal (in Portuguese)

Guidance Documents and Recommendations
Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency
Consult the Pubmed abstract
To read more about "Primary adrenal insufficiency"

J Intern Med. ; 275(2):104-15 ; February 2014
Guideline on the management of primary resistant and relapsed classical Hodgkin lymphoma
Consult the Pubmed abstract
To read more about "Hodgkin lymphoma, classical"

Br J Haematol. ; 164(1):39-52 ; January 2014
Guidelines for the diagnosis and management of adult myelodysplastic syndromes
Consult the Pubmed abstract
To read more about "Myelodysplastic syndromes"

Br J Haematol. ; 164(4):503-25 ; February 2014
Guidance on the dental management of patients with haemophilia and congenital bleeding disorders
Consult the Pubmed abstract
To read more about "Hemophilia"
To read more about "Von Willebrand disease"
To read more about "Congenital factor XI deficiency"

Br Dent J. ; 215(10):497-504 ; November 2013
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis)
Consult the Pubmed abstract
To read more about "Hereditary nonpolyposis colon cancer"
To read more about "Familial adenomatous polyposis"
To read more about "MUTYH-related attenuated familial adenomatous polyposis"

Genet Med. ; 16(1):101-16 ; January 2014

Ethical, Legal & Social Issues
Shedding light onto the concept of assent in paediatric research
An article appearing in the European Journal of Human Genetics this month attemps to clarify the notion of assent, which remains a hazy concept although it has been established as an important criteria for the inclusion of children in biobanks, for example. In this conceptual analysis of assent, the authors, from the Department of Medical Humanities at the University Medical Centre of Utrecht, argue that the most tenable interpretation of assent in the paediatric research field is personalised assent understood from engagement grounds, taking into consideration the nature of childhood. The authors believe that each child and study should be treated individually and that a range of elements need to be considered in order to determine the procedure for assent. Indeed, it is suggested that assent should be seen as a process in line with the development of the child, rather than a single event. This process should implicate, as far as possible, and if feasible for researchers, the child herself. The authors conclude that this difficult concept needs further clarification which can only be attained through discussion of specific research areas and cases, and in the meanwhile researchers must rely on their moral integrity and responsibility when dealing with the interpretation of assent.
Consult the Pubmed abstract

A new online programme to help patients become their own ambassadors
A new e-learning programmel, entitled the European Patient Ambassador Programme, has been launched online. The programme is aimed at providing both patients and carers with the skills they need to in their interactions with healthcare professionals, policymakers, researchers and journalists in order to represent people living with a condition. The online programme is presented in a modular format which allows users to discover different concepts and understand topics such as ‘Becoming better informed’, ‘Improving public awareness’, ‘Improving treatment and care’, ‘Supporting research and development’, ‘Influencing health policy’, and ‘Interacting with media’. This tool is particularly interesting for patients with rare diseases, and their carers, as they often have to be ambassadors for their disease, especially when they have no patient organisation to represent them. The programme has been devised by the European Lung Foundation (ELF) and the National Institute of Health Research Collaboration for Leadership in Applied Health Research and Care for Leeds, York and Bradford (United Kingdom), with the participation of both patients and professionals and is currently available freely in English.
Visit the website

U.S survey on the challenges faced by rare disease patients to receive a diagnosis
An article published in “Journal of Rare Disorders” surveyed rare disease stakeholders to understand the current experience of patients when trying to obtain a diagnosis. The authors point out attention to a recent survey which showed that it took an average of 5.6 years in the United Kingdom and 7.6 years in the United States to obtain a diagnosis for a rare disease, and that “most patients needed to provide their health care professionals (HCPs) with information on their rare disease”. In this present survey the authors analysed data from 805 patients, parents, and spouses and 367 HCPs which revealed unsurprisingly that the current state required much to be desired. Although patients validated that they were referred to other physicians by primary care providers, they unfortunately saw an average of 7.3 physicians before a diagnosis was made. The data collected suggest that referrals are not targeted correctly, or that the referred physicians are not well versed in the diagnosis of rare diseases. According to the authors, this is not surprising, “as many rare diseases are heterogeneous in nature, and the presenting symptoms in a patient may suggest referral to a certain type of physician who is not well versed in the diagnosis of that particular disease”. The authors reported that most physicians in the survey believed that it would be helpful to receive additional training in rare diseases, and patients rated the rare disease knowledge of the physician they saw at onset of symptoms as “poor” or “fair.” Finally the authors reflect that although there has been a good deal of dialogue about the need to refer patients, it appears that robust educational programs regarding targeting referrals or how to diagnose a rare disease in referred patients are also necessary.
Read the open access article

Survey documenting policies of ethics committees in the management of research biobanks in Italy sheds light on an area in need of guidelines
An article appearing in this month’s European Journal of Human Genetics, publishes the results of a survey of undertaken in Italy to document the attitudes and policies of ethics committees in the management of biobanks for research purposes. The authors highlight that gaps in regulations concerning the collection and use of biobank samples necessitate the elaboration of ethical guidelines, although this exercise is rarely undertaken in Italy and other European countries. The survey results, derived from responses from 52 ethics committees, documents the approaches taken in critical areas such as : informed consent, confidentiality protection, communication of research results, ownership of samples and data, and benefit sharing. These results are intended to contribute to the understanding of the current situation in Italy, though may also be useful for the elaboration of future guidelines based on experience and real-life practice.
Consult the Pubmed abstract


New Syndromes

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations
Auré et al report that acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetozolamide may be caused by mutations in mitochondrial DNA MT-ATP6/8. The mutation MT-ATP6, previously associated with Leigh syndrome, was observed in all members of a family with episodic weakness associated with a later-onset distal motor neuropathy. The authors further screened 9 patients with similar clinical phenotype, identifying 4 patients with the mutation in MT-ATP6 and one patient with a mutation on MT-ATP6.
Consult the Pubmed abstract

To read more about "Genetic periodic paralysis"

Neurology ; 19;81(21):1810-8 ; November 2013
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Cav1.1 mutation
Published in Brain, is a study of an American family with conditions that included progressive permanent weakness, myopathic myopathy, exercise-induced contracture before normokalaemic periodic paralysis caused by a novel Cav1.1-R1242G mutation.
Consult the Pubmed abstract

To read more about "Normokalemic periodic paralysis"

Brain ; 136(Pt 12):3775-86 ; December 2013
ITM2B, a candidate gene underlying a novel autosomal dominant retinal dystrophy
An article published in Human Molecular Genetics report phenotypic and genetic characterisation of a large family presenting an unusual autosomal dominant retinal dystrophy using whole exome sequencing. The study identified a missense variant in ITM2B coding for Integral Membrane Protein 2B hence better describing describing clinical symptoms of ITM2B mutations and adds to the list of genes involved in inherited retinal dystrophies. This new phenotype of retinal dystrophy is dominated by inner retinal dysfunction and ganglion cell abnormalities.
Consult the Pubmed abstract

Hum Mol Genet. ; 23(2):491-501 ; January 2014
A novel syndrome with clinical features representing dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus
Here the authors report two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus, believed to be a novel syndrome. The authors performed sanger sequencing and then whole exome sequencing on these patients whose clinical data was collected over 2 decades and 9 years for the offspring but did not identify known genetic cause of similar syndrome. Consult the Pubmed abstract
Parkinsonism Relat Disord. ; pii: S1353-8020(13)00411-2 ; November 2013
Deficiency of innate and acquired immunity caused by an IKBKB mutation: differences in mouse models and humans
The authors genetically evaluated four patients, with clinical characteristics of Severe combined immunodeficiency (SCID) despite normal B-cell and T cell counts. All patients carried a homozygous duplication of IKBKB, leading to loss of expression of IKK2. Although Ikk2 deficiency is lethal in mouse embryos, the observations suggest a more restricted, unique role of IKK2–NF-κB signaling in humans.
Consult the Pubmed abstract

To read more about "Severe combined immunodeficiency"

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous Syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload
Swoboda et al have identified three related males with a PIGA mutation, who uncharacteristically presented as “neurologically normal prior to onset of seizures after 6 months of age, with 2 surviving to the second decade”. According to the authors this newly recognized x-linked syndrome, caused by a PIGA mutation, triggers a reduction of the cell surface protein, GPI linked anchor protein, which is expressed on various cell types.
Consult the Pubmed abstract

Am J Med Genet A. ; 164(1):17-28 ; January 2014
Mutation in MID2, which encodes for ubiquitin ligase: a likely cause for X-linked intellectual disability with varied disease severity in a large kindred from India
A study published in Human Mutation highlights the role of the ubiquitin pathway in intellectual disability as it identifies a novel missense mutation in MID2, which encodes ubiquitin ligase E3. The clinical features inludes seizures, difficulty in speech, hyperactivity and, in some cases, long face and prominant ears. The authors claim this mutation to be the “likely cause of X-linked mental retardation in a large kindred” found in India. The mutation introduced in HEK293T cell line, abolish the function of the COS domain in the protein and accumulates in the cytoskeleton leading to an altered subcellular localization. This study also aids in differentiating between phenotypes caused by MID2 and its paralogue MID1.
Consult the Pubmed abstract

Hum Mutat. ; 35(1):41-4 ; January 2014
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster
An article appearing in European Journal of Human Genetics, describes a family with a 2.42 Mb duplication at chromosome 4p13 to 4p12 which was identified by ”oligonucleotide array comparative genomic hybridization, that contains 13 genes including a cluster of four GABAA receptor subunit genes” and confirmed by fluorescent in-situ hybridization. The authors not only observed an array of neurodevelopmental disorders in this family, and an unrelated patient displaying a similar phenotype with a similar duplication.
Consult the Pubmed abstract

Eur J Hum Genet. ; 22(1):105-9 ; January 2014

New Genes

Mutation in PCYT1A, encoding a key regulator of Phosphotidylcholine metabolism, cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Consult the Pubmed abstract
To read more about "Spondylometaphyseal dysplasia - cone-rod dystrophy"

Am J Hum Genet. ; 94(1):105-12; 94(1):113-119 ; January 2014

Mutations in TBC1D24, a gene associated with Epilepsy can also cause Nonsyndromic Deafness type DFNB86
Consult the Pubmed abstract
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Am J Hum Genet. ; 94(1):144-52 ; January 2014
Recessive mutations in a distal PTF1A enhancer causes isolated pancreatic agenesis
Consult the Pubmed abstract
To read more about "Partial pancreatic agenesis"

Nat Genet. ; 46(1):61-4 ; January 2014
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
Consult the Pubmed abstract
To read more about "Pulmonary venoocclusive disease"

Nat Genet. ; 46(1):65-9 ; January 2014
Mutations in PTDSS1 gene that increase phosphatidylserine synthase 1 synthesis, cause Lenz-Majewski syndrome
Consult the Pubmed abstract
To read more about "Lenz-Majewski hyperostotic dwarfism"

Nat Genet. ; 46(1):70-6 ; January 2014
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
Consult the Pubmed abstract
To read more about "Hypoplastic amelogenesis imperfecta"

Eur J Hum Genet. ; 22(1):132-5 ; January 2014
Autosomal Recessive Stickler Syndrome Due to a Loss of Function Mutation in the COL9A3 Gene
Consult the Pubmed abstract
To read more about "Stickler syndrome"
To read more about "Autosomal recessive Stickler syndrome"

Am J Med Genet A. ; 164(1):42-7 ; January 2014
X Chromosome Exome Sequencing Reveals a Novel ALG13 Mutation in a Nonsyndromic Intellectual Disability Family With Multiple Affected Male Siblings
Read the abstract
To read more about "X-linked non-syndromic intellectual deficit"

Am J Med Genet A. ; 164(1):42-7 ; January 2014
Somatic mutations in Calreticulin (CALR) observed in myeloproliferative neoplasms
Consult the Pubmed abstracts
To read more about "Myelofibrosis with myeloid metaplasia"
To read more about "Essential thrombocythemia"

N Engl J Med. ; 369(25):2391-405 ; December 2013
N Engl J Med. ; 369(25):2379-90 ; December 2013
High prevalence of MAP2K1 mutations in variant and IGHV-34-expressing hairy cell leukemias
Consult the Pubmed abstract
To read more about "Hairy cell leukemia variant"
To read more about "Hairy cell leukemia"

Nat Genet. ; 46(1):8-10 ; January 2014
Elevated serum FGF23 levels due to somatic activating mutations in HRAS and NRAS, in epidermal nevus syndrome
Consult the Pubmed abstract
To read more about "Epidermal nevus syndrome"

Hum Mol Genet. ; 23(2):397-407 ; January 2014
J Clin Endocrinol Metab. ; 99(1):E132-6 ; January 2014
Homozygous PDE6D mutation impairs targeting of farnesylated INPP5E protein to the Primary Cilium in Joubert Syndrome
Consult the Pubmed abstract
To read more about "Joubert syndrome and related disorders"

Hum Mutat. ; 35(1):137-46 ; January 2014
Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with oro-facio-digital syndrome type IX
Consult the Pubmed abstract
To read more about "Orofaciodigital syndrome type 12"

Hum Mutat. ; 35(1):36-40 ; January 2014
Exome Sequencing Identifies a Novel EP300 Frame Shift Mutation in a Patient With Features That Overlap Cornelia de Lange Syndrome
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Am J Med Genet A ; 164(1):251-8 ; January 2014
Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis
Consult the Pubmed abstract
Am J Hum Genet. ; 94(1):47-61 ; January 2014
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality
Consult the Pubmed abstract
To read more about "West syndrome"

Hum Mutat. ; December 2013
Mutations in POGLUT1, encoding Protein O-Glucosyltranferase 1, cause autosomal –dominant Dowling-Degos disease
Consult the Pubmed abstract
To read more about "Dowling-Degos disease"

Am J Hum Genet. ; 94(1):135-43 ; January 2014

Research in Action

Clinical Research
Eteplirsen treatment shows promise for Duchenne Muscular Dystrophy patients in PHASE2b studies
Consult the Pubmed abstract
To read more about "Microcystic corneal dystrophy"

Ann Neurol. ; 74(5):637-47 ; November 2013
Ramucirumab for previously treated advanced gastric or gastro-oesophageal junction adenocarcinoma: an international, randomised, multicentre, placebo-controlled, phase 3 trial
Consult Pubmed abstracts
To read more about "Esophageal adenocarcinoma"

Lancet ; 383(9911):31-9 ; January 2014
No improvement in survival for sporadic Creutzfeldt-Jakob disease after 300mg of quinacrine treatment
Consult Pubmed abstracts
To read more about "Creutzfeldt-Jakob disease"

Neurology ; 81(23):2015-23 ; December 2013
Magnesium sulfate therapy for vaso-occlusive episodes in sickle cell disease: tolerated but no effect on lenght of hospital stay, pain scores, or cumulative analgesia use
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Pediatrics ; 132(6):e1634-41 ; December 2013
Abatacept, a costimulatory inhibitor that targets B7-1, induced partial or complete remissions in five patients with focal segmental glomerulosclerosis and B7-1 positive podocytes
Consult the Pubmed abstract
To read more about "Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis"

N Engl J Med. ; 369(25):2416-23 ; December 2013
Targeted therapy with eculizumab for inherited CD59 deficiency
Consult the Pubmed abstract
To read more about "Primary CD59 deficiency"

N Engl J Med. ; 370(1):90-2 ; January 2014
Weekly oral alendronate resolves clinical and laboratory abnormalities in a patient with mevalonate kinase deficiency
Consult the Pubmed abstract
Read the open access article

To read more about ""

Orphanet J Rare Dis. ; 8:196 ; December 2013
Administration of recombinant Factor IX Fc fusion protein results in low annualized bleeding rates in patients with hemophilia B
Consult the Pubmed abstract
Link to the clinical study

To read more about "Hemophilia B"

N Engl J Med. ; 369(24):2313-23 ; December 2013
Stem Cells

Transplantation of iPSC-derived neural stem cells effectively improves the phenotype of a mouse model of amyotrophic lateral sclerosis
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Hum Mol Genet. ; 23(2):342-54 ; January 2014
Human mesenchymal stem cell derived microvescicles were therapeutically effective in a mouse model of acute lung injury
Consult the Pubmed abstract
To read more about "Acute lung injury"

Stem Cells ; 32(1):116-25 ; January 2014
Review addressing the usage of human induced pluripotent stem cells to treat retinal disease
Consult the Pubmed abstract
Prog Retin Eye Res. ; 37:163-81 ; November 2013
Gene Therapy
Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Hum Mol Genet. ; 23(2):514-23 ; January 2014
CD4+ T Cells from IPEX Patients Convert into Functional and Stable Regulatory T Cells by FOXP3 Gene Transfer
Consult the Pubmed abstract
To read more about "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"

Sci Transl Med. ; 5(215):215ra174 ; December 2013
Delayed Mecp2 gene reactivation rescues behavioral and EEG deficits in Mecp2-deficient mice that display Rett-like phenotype
Consult the Pubmed abstract
To read more about "Rett syndrome"

Hum Mol Genet. ; 23(2):303-18 ; January 2014
Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice
Consult the Pubmed abstract
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Gene Ther. ; 21(1):71-80 ; January 2014
Therapeutic Approaches

Beneficial effects of bumetanide in a mouse model of hypokalaemic periodic paralysis with CaV1.1-R528H mutations
Consult the Pubmed abstract
To read more about "Hypokalemic periodic paralysis"

Brain ; 136(Pt 12):3766-74 ; December 2013
Mutant KRAS is a druggable target for pancreatic cancer: an siRNA approach
Consult the Pubmed abstract
To read more about "Pancreatic carcinoma"

Proc Natl Acad Sci U S A. ; 110(51):20723-8 ; December 2013
Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacological chaperone drug therapy
Consult the Pubmed abstract
To read more about "Normosmic congenital hypogonadotropic hypogonadism"
To read more about "Congenital hypogonadotropic hypogonadism"

Proc Natl Acad Sci U S A. ; 110(52):21030-5 ; December 2013
Diagnostic Approaches

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
Consult the Pubmed abstract
To read more about "Retinal dystrophy"
To read more about "Retinitis pigmentosa"
To read more about "Bardet-Biedl syndrome"
To read more about "Usher syndrome"

Eur J Hum Genet. ; 22(1):99-104 ; January 2014
Targeted next-generation sequencing as a comprehensive test for patients with DMD/BMD and female carriers: a multi-population diagnostic study
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"
To read more about "Duchenne and Becker muscular dystrophy"
To read more about "Becker muscular dystrophy"

Eur J Hum Genet. ; 22(1):110-8 ; January 2014
Exome sequencing as a first line diagnostic tool for pediatric-onset ataxia
Consult the Pubmed abstract
Hum Mutat. ; 35(1):45-9 ; January 2014
Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for the diagnosis of Turner syndrome
Consult the Pubmed abstract
To read more about "Turner syndrome"

Genet Med. ; 16(1):53-9 ; January 2014
Fibroblast growth factor 21 is a sensitive biomarker of mitochondrial disease
Consult the Pubmed abstract
Neurology ; 81(21):1819-26 ; November 2013

Patient Management and Therapy
Review: treatment options and long term management of Achalasia
Consult the Pubmed abstract
To read more about "Idiopathic achalasia"

Lancet ; 383(9911):83-93 ; January 2014
Review: pathogenic factors, onset, diagnosis and treatment of autoimmune polyendocrine syndromes
Consult the Pubmed abstract
To read more about "Autoimmune polyendocrinopathy type 2"
To read more about "Autoimmune polyendocrinopathy"
To read more about "Autoimmune polyendocrinopathy type 1"

Autoimmun Rev. ; 13(2):85-9 ; February 2014
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management
Consult the Pubmed abstract
To read more about "Abetalipoproteinemia"

J Inherit Metab Dis. ; Epub ahead of print ; November 2013
Congenital Adrenal Hyperplasia: Issues in Diagnosis and Treatment in Children
Consult the Pubmed abstract
To read more about "Congenital adrenal hyperplasia"

Indian J Pediatr. ; Epub ahead of print ; November 2013
Rare bleeding disorders in children: identification and primary care management
Consult the Pubmed abstract
Pediatrics ; 132(5):882-92 ; November 2013
Glanzmann’s thrombasthenia – newer treatment options
Access the article
To read more about "Glanzmann thrombasthenia"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1, Pages 5-10 ; January 2014
Treatment of primary biliary cirrhosis
Access the article
To read more about "Primary biliary cirrhosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1 , Pages 11-25 ; January 2014
Canakinumab in autoimmune and autoinflammatory rheumatic diseases
Access the article
To read more about "Juvenile idiopathic arthritis"
To read more about "Adult Still's disease"
To read more about "Familial cold urticaria"
To read more about "Muckle-Wells syndrome"
To read more about "CINCA syndrome"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1, Pages 27-35 ; January 2014
Therapy options for retinitis pigmentosa
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To read more about "Retinitis pigmentosa"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1 , Pages 37-52 ; January 2014
Pharmacologic management of tuberous sclerosis complex-associated subependymal giant cell astrocytomas
Access the article
To read more about "Tuberous sclerosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1 , Pages 53-66 ; January 2014
Alveolar echinococcosis: evaluation of therapeutic strategies
Access the article
To read more about "Alveolar echinococcosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1 , Pages 67-86 ; January 2014
The role of the farnesyltransferase inhibitor lonafarnib in the treatment of Progeria
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To read more about "Hutchinson-Gilford progeria syndrome"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 1 , Pages 95-105 ; January 2014
Acute aortic dissections with pregnancy in women with ACTA2 mutations
Consult the Pubmed abstract
To read more about "Familial thoracic aortic aneurysm and aortic dissection"

Am J Med Genet A. ; 164(1):106-12 ; January 2014
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
Consult the Pubmed abstract
To read more about "22q11.2 deletion syndrome"

Genet Med. ; 16(1):40-4 ; January 2014

Orphan Drugs
Orphan drugs policies in need of a check-up

An article appearing in the European Journal of Health Economy this month entitled Orphan drug policies : a suitable case for treatment argues that current orphan drug policies are no longer fit for purpose. The authors believe that although measures such as the US Orphan Drug Act (1983) and the EU Regulation on Orphan Medicinal Products (2000) have been successful in developing treatments for rare diseases, there are significant barriers for patients trying to access these therapies. Indeed, in an era where health technology assessment (HTA) is increasingly used to make reimbursement decisions, it is argued that most orphan drugs do not justify funding when this assessment is based on cost-effectiveness. It is for this reason, the authors argue, that policies are not responding to the real need to provide accessible treatments to patients.

The authors identify a number of issues that should be considered if current orphan drug policies are to be revised, including clarifying the view of society concerning the priority given to orphan drugs, reforming current practices and procedures for the pricing and reimbursement of orphan drugs, prioritising areas for research in the field of rare diseases, and elaborating policies which deal with the principal issues with a hollistic approach. Without a considerable revision of policy in this area, the authors deem that Industry will no longer be interested in developing therapies for rare diseases as they will have no assurance that final treatment will be reimbursed.

At the European level, the issue of access and reimbursement of orphan medicinal products has recently been tackled by a working group « Mechanism of coordinated access to orphan medicinal products », one of the working groups of the Platform on Access to Medicines in Europe which constitutes part of the Corporate Social Responsibility process initiated by Commissioner Tajani. This group’s objective was to find collaborative ways to identify and assess the value added of orphan medicinal products. The group concluded that more collaborative and knowledge-sharing initiatives in this area were needed to inform pricing and reimbursement decisions affecting access to drugs, but these decisions themselves were the sole domain of the Member States. There has been no discussion of a possible revision of the Regulation on Orphan Medicinal Products.
Consult the Pubmed abstract

Regulatory News
15 positive opinions recommending orphan designation at the January 2014 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted fifteen positive opinions issued at the January 2014 COMP meeting for:

- the treatment of cystic fibrosis(2 treatments)
- the treatment of epidermolysis bullosa
- the prevention of delayed graft function after solid organ transplantation
- the diagnosis of gastro-entero-pancreatic neuroendocrine tumours(2 tests)
- the treatment of Rett syndrome
- the treatment of Duchenne muscular dystrophy
- the treatment of glioma
- the treatment of primary optic neuritis
- the treatment of familial chylomicronaemia syndrome
- the treatment of adrenoleukodystrophy
- the treatment of Farber disease
- the treatment of polycythaemia vera
- the prevention of congenital cytomegalovirus infection following primary cytomegalovirus infection

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



Rare Diseases Foundation: Call for projects studying High throughput sequencing and rare diseases
This call is dedicated to the identification by high-throughput sequencing of new genes involved in rare diseases. The scope of the proposed technology is extended; projects characterization of novel genes from rare diseases will be based on the full exome sequencing (WES) or whole genome sequencing (WGS). Download the text of the call for projects. You can access to documents to respond to this call can be found at the Foundation website. Deadline for submission of projects: 11 February 2014 For more information, Contact: ngs@fondation-maladiesrares.com, or call: +33 01 58 14 22 85
SMA Europe announces its 6th international Call for SMA Research Projects
This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The overall goal of SMA Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments. For more information please visit the SMA Europe web site
The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
The Erdheim-Chester Disease Global Alliance is interested in receiving Letter of Intents for any study that can lead to an increase of knowledge related to the etiology, pathophysiology, diagnosis or treatment of Erdheim-Chester Disease. Upto a 100,000 USD will awarded to a maximum of 2 grants for projects that focus on areas that include development and implementation of an ECD patient registry, clinical trials related to treatment of ECD, improving the quality of life for ECD patients, simplifying diagnosis of ECD, understanding the pathobiology and molecular mechanisms of the disease. All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit before 1 April, 2014.
For further information


Partnersearch, Job Opportunities
Group leader positions in the Imagine Institute of Genetic Diseases
The new Imagine Institute of Genetic Diseases, affiliated with the Necker Enfants maladies Hospital campus Paris, is inviting applications for group leader positions. Imagine is an interdisciplinary research center with excellent core facilities for genomics, cell imaging, flow cytometry, bioinformatics, pathophysiology and animal housing for transgenic mice and zebra fish. The new tailor-made building (to be opened in early January 2014) will offer cutting-edge research facilities. The Institute focuses on rare diseases, their genetic architecture and life-long outcomes. Imagine intends to address unmet basic and clinical research questions related to rare diseases, in order to increase knowledge in a major medical field that is currently insufficiently covered. This will result in the development of new biological concepts, diagnostic tools and innovative therapeutics. Applications can focus on any field directly linked or related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on:
1- Development, stem cells and neuroscience.
2- Computational biology and/or bioinformatics.
Applications in these two areas will be separately evaluated. Appointments will be made at a junior or senior level, depending on experience. Applications should be submitted to Professor Alain Fischer before May 15 2014 Further information can be found at
www.institutimagine.org or email

Research Fellow in Gene Therapy for Lysosomal Diseases
Dr. Brian Bigger’s research group seeks a highly skilled, experienced and enthusiastic postdoctoral scientist joining. The applicant will drive a project to develop a novel gene therapy approach for Sanfilippo disease type B, using the labs international expertise in the development of therapies for lysosomal diseases. The applicant must have a strong background in either animal models of lysosomal storage disorders, glycobiology or gene therapy. Candidates with strong publication records and communication skills will be preferred. The applicant must be self-directed and thrive in an atmosphere that promotes independence and research leadership within a cohesive research group. The post offers the opportunity to work on an exciting project in a group with an established international reputation in stem cell and gene therapies. The position is funded by Action Medical Research. Informal enquiries can be made to Brian Bigger, Principal Investigator Email: brian.bigger@manchester.ac.uk. For further information visit. Closing date : 06/01/2014

What's on Where?

Lysosomal Disease Network: 10th Annual World Symposium
Date: 11-13 February 2014
Venue:California, U.S

This program is intended to provide a discussion of challenges to data collection and ways to overcome these challenges to produce valid and reliable research data. There will be short presentations and discussion. The target audience is new researchers in lysosomal diseases as well as to experienced researchers to exchange ideas. This workshop will be oriented to techniques, not to results.
For further details

EUROPLAN National Conferences Ireland
Date: February 2014
Venue: Dublin, Ireland

Organised by GRDO, Genetic and Rare Disorders Organisation
For further details go to www.grdo.ie

EUROPLAN National Conferences Belgium
Date: 28 February 2014
Venue: Brussels, Belgium

Organised by Belgian National Alliance for Rare Diseases
For further details go to radiorg.be

RE(ACT) Congress: 2nd International congress on research of rare and orphan diseases
Date: 5-8 March 2014
Venue: Basel, Switzerland

The conference sessions will explore issues and cutting-edge technologies that affect many adult and paediatric conditions. The following topics are to be discussed include Stem cell and cell therapy approaches, mapping diseases and genome instability, pathophysiology and diagnostics, bringing treatments to the clinic, degenerative disorders and research and patients.
For further information

Genomic Disorders 2014: The Genomics of Rare Diseases
Date: 5-7 March 2014
Venue: Cambridge, UK

Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases.
For further information

The 9th International Congress on Autoimmunity
Date: 26-30 March 2014
Venue: Nice, France

This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
For further details

Gene, Cell and Molecular Therapies for Inherited Metabolic Disease
Date: 27 March 2014
Venue: London, UK

The aim of this meeting is to establish and encourage a closer interface between clinicians and scientists with the goal of translating gene therapy and novel technologies into clinical treatment of inherited metabolic disorders to UK patients at the earliest opportunity.
For further information

2014 Lymphangioleiomyomatosis International Research Conference
Date: 28-30 March 2014
Venue: Chicago, USA

The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
For further details

International Meeting on Fibrodysplasia Ossificans Progressiva, 2014
Date: 4-5 April 2014
Venue: Genova, Italy

The 8th International Meeting on Fibrodysplasia Ossificans Progressiva (FOP) organized by the FOP Italia Association will take place in Genova with the participation of scientists from European and American countries who will discuss pathogenic mechanisms of FOP as possible targets for treatments. Representatives of patients associations from several countries and individual patients and families will also participate.
For further information fopilatia.it or www.cisef.org

7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

3rd International Conference on Immune Tolerance 2014
Date: 28th - 30th September 2014
Venue: Amsterdam, The Netherlands

The Third International Conference on Immune Tolerance will bring together international delegates to share their latest research and insights into the mechanisms and treatment of many conditions, most notably in transplantation, autoimmune diseases, inflammation and cancer.
For Further Information

LGDA Patient – Family Conference
Date: 13-14 June 2014
Venue: Texas, U.S.

"The Lymphangiomatosis & Gorham's Disease Alliance (LGDA) will hold its inaugural Patient - Family Conference. This milestone event will bring patients, families, and experts in the field from around the world together for the very first time on June 13 & 14, 2014, at the Sheraton Suites Market Center in Dallas, Texas, USA. For details about the conference visit the website.

Euromit 2014 - International Meeting on Mitochondrial Pathology
Date: 15–19 June, 2014
Location: Tampere, Finland

Euromit 2014 will be the 9th in a series of international conferences dedicated to understanding mitochondrial disease. The conference will bring together leaders of the field as well as many young talents. The organisers expect that around 700 molecular scientists, clinicians and representatives of the healthcare industry to attend.
For further information

13th International Congress on Neuromuscular Diseases - ICNMD 2014
Date: 5-11 July 2014
Venue: Marseille, France

The XIII ICNMD experts will come together to share knowledge and experiences in the field of neuromuscular diseases. Physicians and scientists, involved in the diagnosis and care to the most updated research in basic mechanisms and therapeutic approaches in the theme will greatly benefit. For further details

16th International Conference on Behçet’s Disease
Date: 18–20 September, 2014
Venue: Paris, France

The conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Update on new therapeutic strategies will be presented and challenging issues will be discussed. They have planned to invite distinguished lecturers notably in the field of innate immunity.
For further information

The Translational Science of Rare Diseases: From Rare to Care II
Date: 8-10 October 2014
Venue: Herrenchiemsee, Germany

The meeting will bring together high-profile scientists from around the world and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies. This conference will bring together a number of high profile speakers active in the field of rare disease research and translational medicine.
For further information

14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Date: 22-25 October, 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease
For Further Information

2nd International Primary Immunodeficiencies Congress (IPIC)
Date: 5-6 November, 2015
Venue: Budapest, Hungary.

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC which was attended by 400 participants. The congress will be a two-day programme and is opened to all stakeholders with an interest in the clinical management of primary immunodeficiencies (PIDs).
For Further Information

Commercial events

2nd Orphan Drugs Research & Commercialization Conference
Date: 20-21 February 2014
Venue: San Diego, US

This meeting provides a forum for all stakeholders, from researchers, industry leaders, patient advocacy organizations, and regulatory experts to gather and share different perspectives on how to best guide the field forward. The program will include presentations on the latest scientific research, such as RNAi therapeutics and gene therapy; pricing and reimbursement challenges; clinical endpoints; and much more.
For Further Information

Cell & Gene Therapy Conference
Date: 20-21 February 2014
Venue: San Diego, US

This meeting will discuss the evolving regulatory challenges and pre-clinical requirements, the development and applications of cell and gene therapy, immune responses, as well as business models and commercial milestones.
For further information

The Commercialisation of Orphan & Rare Disease Drugs 2014
Date: 20–21 March, 2014
Venue: London, UK

This forum provides a unique opportunity to meet, network and hear from acknowledged industry experts. Discover untapped revenue streams in the blockbuster market - increase your bottom line and ensure the commercial success of your organisation. Explore the latest trends in pricing and reimbursement, and more importantly what lies beyond – from optimal business models to improving your marketing and sales strategy.
For further information

World Orphan Drug Congress USA
Date: 23 – 25 April, 2014 Venue: Washington D.C., U.S The 4th annual World Orphan Drug Congress USA is dedicated to fostering partnerships and collaboration. It is about expediting orphan drug development and articulating its value, from discovery to patient access, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

Stem Cell Commercialization & Partnering Conference
Date: 23–25 April, 2014
Venue: Boston, U.S

This forum presents information regarding cutting-edge developments in all areas of stem cell research including the biology, medicine, applications, regulations and business of stem cells. This track focuses on the business opportunities, challenges and potential strategies for overcoming them.
For further information

9th World Stem Cells & Regenerative Medicine Congress
Date: 20–22 May, 2014 Location: London, UK In this event pharma, biotech, academia and investors join together and which is a medium for biotechs and academia to get their research noticed.
For further information

The World Orphan Drug Congress Asia 2014
Date: 10-11 June 2014
Venue: Singapore

The World Orphan Drug Congress Asia 2014 focuses on fostering partnerships and relationships between industry, governments, payers, investors and patients as well as to expedite orphan drug development and articulating its value, from discovery to clinical development, to license, to manufacturing, to launch and to sustainability of supply, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information


Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews International is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (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), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
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, 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, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis 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), Désirée 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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