29 October 2013 print
Editorial
Spotlight on...
EU Policy News
Nat Pol News
ELS News
EU Project
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Grants
Courses & Education
What's on?
Subscribe / Unsubscribe
Search the Orphanews Europe archives:
Loading

Archives


 
Editorial
 
China celebrates the founding of the Chinese Rare Disease Research Consortium
 

The launch of the Chinese Rare Disease Research Consortium (CRDRC) was formally announced on 14 September 2013, during the 1st Chinese Rare Disease Symposium, that was presided by Prof. Paul Lasko, the President of the International Rare Disease Research Consortium (IRDiRC), and Prof. Penggen Li, the President of Huazhong University of Science & Technology (HUST).

CRDRC, led by the HUST and the Hong Kong University was accepted as a member of IRDiRC on 5 August 2013. Wang Qing, Dean of School of Life Science and Technology of HUST, and Pak Chung Sham, Professor of University of Hong Kong, were elected as the Chairman and Vice –Chairman of the Consortium respectively. More than 20 universities, colleges and institutes and 50 specialists are now members of this consortium. CRDRC aims to team up with several other researchers and organisations investing in rare disease research in China.
The goals of CRDRC are multifold as they include establishing a national registry for rare diseases in China as well as establishing and providing access to harmonized data and samples. Efforts of CRDRC will go towards identifying 5-30 rare disease genes per year and make genetic testing based on these genes available for patients as well as performing translational research with newly identified genes and facilitate development of therapeutic strategies. CRDRC will endeavour to provide funding support of rare disease research in China by forming an alliance with the China Natural Science Foundation, the Ministry of Science and Technology, and the Ministry of Health. These will include participating in joint calls or international collaborative funding for rare disease research with the EU, Australia, and other countries. Finally CRDRC will seek to launch a Rare Disease Research Institute in China to centralize the rare disease research efforts in China.
Visit the IRDiRC website
 


 
Spotlight on...
 
Pharmacological chaperones to cure genetic diseases – Q&A with G. Andreotti and M.V. Cubellis
 
Dr Giuseppina Andreotti (scientific research council) and Dr Maria Vittoria Cubellis (coordinator), are working on the project Pharmacological chaperones to cure genetic diseases: development of drugs and identification of new targets (Telethon Foundation, Italy). In this interview, they will explain which are the problems they will tackle, how they will do so, and how it will help International Rare Disease Research Consortium (IRDiRC) to reach its goals.
Interview of Dr Giuseppina Andreotti and Dr Maria Vittoria Cubellis on behalf of Telethon Foundation Italy speaks to IRDiRC

 
Interview
 
IRDiRC: What is the main problem that you will tackle?
Dr G. Andreotti and Dr M.V. Cubellis: We are interested in developing pharmacological chaperones (PC) to cure rare diseases. PC are small molecules which can be administered orally, reach difficult tissues such as the brain and have low cost. They stabilize proteins that are weakened by a mutation. We believe that these drugs have a vast field of application because the majority of mutations causing diseases affect protein stability and not functional sites.

IRDiRC: What is the concrete solution that you have selected? What are the steps? At what stage are you today?
Dr G. Andreotti and Dr M.V. Cubellis: We chose two model systems. The first is represented by Fabry disease, a lysosomal storage disorder. For this disease there are two therapies, the enzymatic replacement (ERT), which has already been approved, and the therapy with pharmacological chaperones, which is in clinical trial. The second system is represented by a disorder of glysosylation, a disease with no cure at present.
The first step of our job consists in the identification of the mutations which can be responsive to chaperones. It is important to realize that not all genotypes for any given disease can be treated with chaperones.
In the case of Fabry disease we have developed a method to predict in silico which mutations are responsive. We have described [1] [2] and tested [3] this method and we have produced a user-friendly web-application to help clinician Choose Eligible Patients for the therapy with pharmacological chaperones (fabry_cep) [4]. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to pharmacological chaperones.
The second step of our job is represented by assays in vitro. Expressing and purifying specific mutants is expensive, therefore we are developing a method to test tiny amounts of un-purified proteins.

The third step consists in finding new chaperones for Fabry disease. The drug that is in clinical trial at present is administered to the patients every other day. The reason is that this molecule is an inhibitor of the enzymatic activity beside being a stabilizer. We believe that a second generation drug should be represented by stabilizers that are not inhibitors. We have a collaborator in Spain, Dr H. Pérez-Sánchez, Computer Science Department, Catholic University of Murcia (Spain) and we have started a project to seek such an improved drug.
As far as the disorder of glycosylation is concerned, we are at very preliminary stage. In fact, the enzyme responsible for the disease, phospho-mannomutaseII has been poorly characterized. Since the ultimate target of the drug is the protein product of the affected gene, we started characterizing phospho-mannomutaseII [5]. We focused on the disease associated mutation encountered in Europe most frequently p.F119L/p.R141H-PMM2 [6].
Bioinformatics analysis is preliminary to all our experiments. This allows us to focus on experiments that have a high probability of success and cuts the costs. Moreover we try to find collaborations, both in terms of expertise and in terms of sharing equipments, this also cuts costs and time.

IRDiRC: What can the patients, the clinicians or other stakeholders expect at the end of the project?
Dr G. Andreotti and Dr M.V. Cubellis: At present we have already provided a tool to help clinicians choose the most appropriate therapy for Fabry patients (fabry_cep) [4]. By the end of the project we could provide a new molecule which can be tested as a second generation pharmacological chaperone for Fabry disease.
We are checking the feasibility of the therapy with PC for the disorder of glysosylation type1A. We have tests in vitro and we are moving to tests in cellula.

IRDiRC: How is your project contributing to reaching the goals of IRDiRC by 2020?
Dr G. Andreotti and Dr M.V. Cubellis: We meet some of the IRDiRC objectives and in particular:
Using in-silico medicine for improving disease management and prediction.
Understanding disease.

IRDiRC: Where does this project position itself in this particular field at the international level?
Dr G. Andreotti and Dr M.V. Cubellis: Recent findings suggest that the approved therapy for Fabry disease might have a limited beneficial effect for patients and a high economical impact for health services [7]. Some patients might be switched to the therapy with chaperones. Unfortunately more than 400 mutations have been described and only a percentage of them, which can be estimated around 50%, can be treated. Clinical trials should be carried in principle for every mutation [8], but this poses a big problem. For this reason our effort to predict in silico or to test in vitro mutants might have a big impact.
Therapies for the disorder of glycosylation are at their infancy and we believe that a precise characterization of damages at biochemical level is necessary.
Visit the website for more information .

References

1. Cammisa M, Correra A, Andreotti G, Cubellis MV: Identification and analysis of conserved pockets on protein surfaces. BMC Bioinformatics 2013, 14 Suppl 7.
2. Andreotti G, Guarracino MR, Cammisa M, Correra A, Cubellis MV: Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. Orphanet J Rare Dis 2010, 5:36.
3. Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, Cubellis MV: Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. Orphanet J Rare Dis 2011, 6:66.
4. Cammisa M, Correra A, Andreotti G, Cubellis MV: Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones. Orphanet J Rare Dis 2013, 8:111.
5. Andreotti G, Pedone E, Giordano A, Cubellis MV: Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. Mol Genet Genomic Med 2013, 1(1):32-44.
6. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 1998, 62(3):542-550.
7. Rombach SM, Hollak CE, Linthorst GE, Dijkgraaf MG: Cost-effectiveness of enzyme replacement therapy for Fabry disease. Orphanet J Rare Dis 2013, 8:29.
8. Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, Jennette CJ, Bragat A, Castelli J, Sitaraman S et al: Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis 2012, 7:91.

 


 
EU Policy News
 
Impact of disease prevalence upon health technology assessment
 

The Health technology assessment (HTA) is responsible for providing policy guidelines for health care. Their role is anticipated to gain intensity as the economy is under constant strain in order to optimise the distribution of available resources. The HTA provides guidance based on its analysis of "new treatment paradigms and health technologies, and the prevalence studies which determine when a disease is a current or future burden for patients and the community". An article published in Best Practice & Research Clinical Gastroenterology analysed studies on strategies and health care policy thus evaluating approaches, that have a major impact on HTA decisions, in epidemiology, prevalence and incidence. The authors in this article emphasise the "utilization of the predictive values of screening tests that include prevalence in their calculations, and analyzing all options for screening strategies are necessary in HTA".

According to the authors, it is necessary for cost-effectiveness analyses and statistical models to account for unforeseen consequences that may affect the annual health care budget especially due to the emergence of new technologies. Thus making a case of "incidence- or prevalence-based economic evaluations" as the need of the times. The article points out that with the emergence of new treatment modalities paradigms, giving the example of personalised genetic treatments targeted to “small” groups of patients the need of prevalence data has greatly risen. Finally the authors encourage obtaining "precise estimates of disease prevalence, in general populations as well as in risk or targeted groups", in order to enhance the ability of HTA to provide guidance.
Consult the abstract

 
Rare disease stakeholders gather to discuss potential impact of data protection legislation on health and medical research
 
As the controversial legislation proposed for protecting personal data in the European Union (the General Data Protection Regulation) goes to vote in the European Parliament LIBE Committee (Civil Liberties, Justice and Home Affairs) this month, stakeholders gathered at the European Parliament for a Lunch Debate hosted by Member of European Parliament (MEP) Marielle Gallo and organised by EURORDIS. The Draft Report issued by MEP Jan Philipp Albrecht (Group of the Greens/European Free Alliance, Germany) on 16 January 2013 has stirred controversy and led to fundamental disagreements that are delaying the process of adopting the new legislation.

The Debate allowed participants to take stock of the current situation and review progress made, with particular emphasis on the Articles of the lengthy Regulation relevant to health, medical and scientific data. Despite certain areas of progress, the contention was made that the spectre of the new legislation is already driving research out of the European Union to other jurisdictions.

Given the potentially detrimental impact of the proposed Regulation on health and medical research, rare disease patient representatives suggested that a viable alternative could be to have a separate legislation specific to data protection in the areas of health and medical research. A precedent for this has already been set. Directive 2006/123/EC (the so-called “Bolkestein Directive”) on general services in the internal market, removed health and medical services from the general legislation, recognising that health services differ from other general services, and eventually leading to a specific piece of legislation for healthcare services. Perhaps legislation specific to health and medical data needs to take a similar path.

 


 
National & International Policy Developments
 
Other European news
 
EURORDIS Photo Contest 2013 now open
 
The EURORDIS Photo Contest 2013 is underway, inviting anyone with an interest in rare diseases to share their most beautiful and original images.

Besides giving participants the chance to win some great prizes, the EURORDIS Photo Contest is an opportunity to communicate visually the many diverse facets of living with a rare disease. Contest finalists will have their work displayed during the European Conference on Rare Diseases and Orphan Products (ECRD), taking place in Berlin in May 2014.

Even those who are not shutterbugs can participate in the EURORDIS Photo Contest by voting for their favourite photograph(s)! The top favourites will be sent to a jury (composed of the members of the EURORDIS Board of Directors) who will choose three final winners. Prizes include an Apple Ipad, Archos 80 Tablet, and Olympus camera.

View the last edition's winners and honourable mentions.
Learn more about the EURORDIS Photo Contest 2013 ... and participate!

 
An alliance between Manchester Academic Health Science Centre and the Peking University Health Sciences Centre to promote research in genomic medicine
 
The UK Chancellor George Osborne in Beijing has announced a partnership between the Manchester Academic Health Science Centre (MAHSC) and the Peking University Health Sciences Centre to establish an international centre of excellence in genetic medicine. This partnership will comprise of three separate but interdependent research facilities – the International Centre for Rare Diseases, the Centre for Cancer Genetics, and the Joint Clinical Trials Facility. The chancellor expressed great optimism about the collaboration and believes it will “contribute to the further development of the research strength of the Manchester Academic Health Science Centre and advance Manchester’s international reputation as a world leader in personalised cancer medicine, while improving care and diagnosis for many people here and in China”. The Chancellor also hopes that the creation of this new joint centre for genomic medicine will encourage an exchange of students to “work together on the medicines of tomorrow”.
Read more

 
Other International News
 
Workshop on translational research opportunities for primary mitochondrial diseases
 
Earlier this year, the NIH research communities and representatives from industries met at the NHGRI for a conference which discussed around the central theme of identifying the major barriers to the development of better treatment for mitochondrial diseases. An article published in Mitochondrion described this workshop which provided a framework on how patient advocacy groups, individual academic units, pharmaceutical companies, and the NIH can interact to address problems related to mitochondrial diseases.

The authors emphasise that the main goals of the workshop was to share information related to primary mitochondrial disease as well as to create and enhance facilitation of colloboration among the NIH Intramural and Extramural Research Program Investigators. The workshop also highlighted a further need to set priorities for research in primary mitochondrial diseases research as well as identify obstacles towards reaching its goals. Finally, the workshop also worked towards "developing mechanisms to enhance translation of basic science discoveries to diagnostics and therapeutics.
Read the Open Access article

 
Review examining the outlook of next-generation sequencing in rare disease research
 
An article published in Nature Reviews Genetics examined the significant success in the development of whole genome and exome sequencing technologies and the affiliated analytical paradigms which has produced successful strategies for gene identification. The article highlights the impact of advances in genome medicine which has led to several discoveries in rare-disease-causing genes, as well as insights into biological mechanisms. The authors also explore the "increasing therapeutic opportunities and challenges that the resulting expansion of the ‘atlas’ of human genetic pathology will bring".

The authors believe that the rapid development in next generation sequencing brings with it the possibility of translation of the gene discoveries leading to treatment and hope for rare disease patients which according to the authors is vital. However, the authors also emphasise that although rare disease patients will in most probability be the "primary beneficiaries", the understanding of disease mechanisms that will be gained will also "inform personalized medicine in other areas over the next decade.
Consult the abstract

 
Guidance Documents and Recommendations
 
Marfan syndrome: health supervision for children from the American Academy of Pediatrics
 
Consult the Pubmed abstract
 
To read more about "Marfan syndrome"

 
Pediatrics ; 132(4):e1059-e1072 ; October 2013
 
Juvenile idiopathic arthritis: 2013 update of the 2011 American College of Rheumatology recommendations for the treatment
 
Consult the Pubmed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Arthritis Rheum. ; 65(10):2499-2512 ; October 2013
 
Regional consensus for the management of beta-thalassemia major in the Arabian Gulf area
 
Consult the Pubmed abstract
 
To read more about "Beta-thalassemia major"

 
Orphanet J Rare Dis. ; 8(1):143 ; September 2013
 
Mucopolysaccharidosis type 1: results of an international consensus procedure for the treatment of hip dysplasia after hematopoietic stem cell transplantation
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 1"

 
Orphanet J Rare Dis. ; 8(1):155 ; October 2013
 


 
Ethical, Legal & Social Issues
 
ACMG recommendations on incidental findings earns criticism, another article recommends a decision tree approach to disclosing incidental findings
 
A letter addressed to editor of Genetics in Medicine takes issue with the recent ACMG recommendations on incidental findings. The author believes that the recommendations are premature and questionable both scientifically and ethically. They authors point out that the recommendations handed out by ACMG are "based on the belief(s) that the presence of these incidental findings indicates that the patient or his/her relatives will suffer future harm and that interventions are available to reduce or prevent harm" emphasising the insufficient evidence currently available to report these beliefs as “the standard of care”. The author believes that ACMG is rushing a mandate which encourages informing patients, or their providers, of incidental findings before the benefits, harms and costs that may result have been established. The author makes a strong case that this is not only ill-informed but as the title of the article suggests, ethically flawed. The author stresses that ACMG should rather "work toward improving the reliability of sequencing in clinical laboratories, as well as toward laboratory quality control and ensurance of appropriate genetic counseling, before making pronouncements on incidental findings in clinical practice". Finally the author reiterates that returning incidental findings in clinical practice should require a more rigorous debate, and it should be performed before recommendations that “may be introduced as evidence of the standard of care” are promulgated.
Access the journal for the article

A related review published in European Journal of Medical Genetics also focused on empirical research on the ethical issues involved in delivering incidental findings. The authors of this review searched for articles covering quantitative and qualitative research on the ethical issues involved in the disclosure of incidental findings in clinical and research genetics contexts. They analysed sixteen articles, synthesising the factors that should be taken into account during the decision-making process surrounding the disclosure of an incidental finding in a genetics context. The authors concluded that these factors include the possibility of disclosure, practical and technical factors, and various ethical factors. Finally the authors suggest the development of a decision-making tree, involving an exploration of the practical and ethical concerns raised by the studies, which they view as the “best way of handling the wide variety of both possible incidental findings and parties interested in the disclosure of incidental findings”.
Consult the PubMed abstract

 
Rare and Orphan Diseases Challenges: Clinical Development and Clinical Practice
 
Most rare diseases have a genetic basis, which are largely are serious or life threatening, affecting many children. However, very few approved treatments are available for treating rare disease. Drug developers and practionners share challenges in delivering effective treatments to patients with rare diseases. Rare disease medications are held to similar standards of evidence for marketing authorization as are medications for common diseases. The authors of an article published in Genome Medicine believe that, "less‐conventional methodological approaches may be employed to demonstrate clinical benefit with smaller study populations.

The article emphasises that "in 2011, of 28 new molecular entities approved for orphan indications by the US Food and Drug Administration, 54% were based on phase 3 data, 29% were based on phase 2 data alone, and 7% were based on case reports only". Thus, the authors believe that a range of data sources not traditionally considered essential such as combined evaluation of single case studies, systematic reviews, and observational studies can be vital in drug development for rare diseases. They especially mention enzyme deficiency diseases, which have "well‐characterized short‐ and long-term consequences of the deficiency and a clear understanding of the pharmacokinetics and pharmacodynamics of the compound, can guide studies of small numbers of patients".
Read the open access article

 


 
EU Project Follow-up
 
RARECARE project description of estimation of rare cancer prevalence in Europe using completeness index method
 
Improving health care programs for cancer survivors is a public health priority and prevalence data which provides important information in this field should be regularly asked to Member States and included in the EU health statistics. A paper published in Cancer Epidemiology describes the usage and the performance evaluation of the completeness index method in the ‘Surveillance of Rare Cancers in Europe project’ (RARECARE) for estimating rare cancer prevalence in Europe. RARECARE is the largest project on rare cancers conducted to date. Incidence and survival models are applied to the RARECARE database to estimate the parameters from which the completeness indices are calculated. After obtaining the prevalence rate of 255 cancers over the period of 15 years from RARECARE cancer registries, complete prevalence was obtained, which was then adjusted using the observed prevalence by the completeness index, to account for those cancer survivors diagnosed before the cancer registry activity started.

The completeness index method is an alternative approach to population-based cancer registries, which allows an adjustment of the observed prevalence by a correction factor obtained modelling the prevalence as a combination of incidence and survival functions. According to the authors, the main factors influencing the performance of the completeness index method for rare cancers are the same as for common cancers: age distribution of incidence and lethality of the cancer. The authors found that a 15 years follow-up is insufficient to detect all prevalent cases. Validation analysis shows that for a restricted subgroup of rare cancers with very low incidence and low survival, the completeness indices were not able to adequately correct the observed prevalence even considering a registration period of 20 years. On average, sensitivity analyses show a slight overestimation of complete prevalence for rare and common cancers whose increasing incidence is known in literature.
Consult the PubMed abstract

 


 
Orphanet News
 
New Texts
 
Orphanet Report Series: List of Rare Diseases and Synonyms
 
The Orphanet Report Series has amended the list of rare diseases and synonyms, which was first published in December 2012, to include all the synonyms of the rare disease. This exhaustive list of rare diseases and synonyms, is a downloadable PDF annual publication intended to help finding easily the ORPHA codes in the Orphanet nomenclature of rare diseases, for coding uses amongst others. It now contains main names, all the synonyms and acronyms of rare diseases in alphabetical order.
Consult the List of rare diseases and synonyms

 


 
New Syndromes
 



 
Autosomal-recessive syndrome with severe hypotonia, speech impairment, and intellectual disability caused by mutations in NALCN
 
Two mutations were identified (one missense and one nonsense) in NALCN in two unrelated families. The mutations cause an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 93(4):721-6 ; October 2013
 
New glycosylation disorder characterized by intellectual disability and autonomic dysfunction due to mutations in GMPPA
 
The authors identified a homozygous nonsense mutation that segregated with achalasia and alacrima, delayed developmental milestones, and gait abnormalities in a consanguineous Pakistani pedigree. Mutations in GMPPA were found in ten additional individuals from eight independent families affected by the combination of achalasia, alacrima, and neurological deficits. This autosomal-recessive disorder shows many similarities with triple A syndrome.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 93(4):727-34 ; October 2013
 
Human autosomal recessive condition characterized by severe cognitive impairment, microcephaly, skeletal anomalies and facial dysmorphic features caused by TTI2 missense mutation
 
The authors report on a large consanguineous multiplex family with a missense mutation in TTI2 causing a human autosomal recessive condition characterized by severe cognitive impairment, microcephaly, behavioral troubles, short stature, skeletal anomalies, and facial dysmorphic features.
Consult the Pubmed abstract

 
Hum Mutat. ; 34(11):1472-6 ; November 2013
 


 
New Genes
 



 
Extension of phenotype associated with dominant gain-of-function STAT1 mutations beyond chronic mucocutaneous candidiasis
 
Consult Pubmed abstracts
 
J Allergy ClinImmunol. ; 131(6):1611-23, 1624-34, 1691-3 ; June 2013
 
Primary ciliary dyskinesia caused by C21orf59 and CCDC65 defects as well as by SPAG1 mutations
 
Consult Pubmed abstracts
 
To read more about "Primary ciliary dyskinesia"

 
Am J Hum Genet. ; 93(4):672-86, 711-20 ; October 2013
 
Cole disease results from three heterozygous mutations in ENPP1 in three unrelated families
 
Consult the Pubmed abstract
 
To read more about "Hypopigmentation-punctate palmoplantar keratoderma syndrome"

 
Am J Hum Genet. ; 93(4):752-7 ; October 2013
 
Fuchs endothelial corneal dystrophy and alteration of protein-protein interaction with TCF4 are due to dominant mutations in AGBL1
 
Consult the Pubmed abstract
 
To read more about "Fuchs endothelial corneal dystrophy"

 
Am J Hum Genet. ; 93(4):758-64 ; October 2013
 
Both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, which is coherent with Matthew-Wood syndrome
 
Consult the Pubmed abstract
 
To read more about "Matthew-Wood syndrome"

 
Am J Hum Genet. ; 93(4):765-72 ; October 2013
 
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia
 
Consult the Pubmed abstract
 
To read more about "X-linked progressive cerebellar ataxia"

 
Hum Mol Genet. ; 22(21):4329-38 ; November 2013
 
MCTP2 as a novel genetic cause of coarctation of the aorta and related cardiac malformations
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant coarctation of aorta"
To read more about "Hypoplastic left heart syndrome"

 
Hum Mol Genet. ; 22(21):4339-48 ; November 2013
 
Two congenital disorders of glycosylation caused by homozygous mutations in STT3A and STT3B
 
Consult the Pubmed abstract
 
To read more about "Congenital disorder of glycosylation"

 
Hum Mol Genet. ; Epub ahead of print ; July 2013
 
Autosomal recessive OX40 deficiency underlying classic Kaposi sarcoma of childhood
 
Consult the Pubmed abstract
 
To read more about "HHV-8 related disorders"

 
J Exp Med. ; 210(9):1743-59 ; August 2013
 
Hearing impairment in humans is associated with an alteration in ELMOD3
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

 
PLoS Genet. ; 9(9):e1003774 ; September 2013
 
Retinitis pigmentosa: whole genome sequencing reveals pathogenic DNA structural changes and NEK2 as a new disease gene
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
Proc Natl Acad Sci U S A ; 110(40):16139-44 ; October 2013
 
Autosomal recessive centronuclear myopathy is associated with recessive TTN gene mutations
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive centronuclear myopathy"

 
Neurology ; 81(14):1205-14 ; October 2013
 
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia caused by biallelic ATM mutations
 
Consult the Pubmed abstract
 
To read more about "Dopa-responsive dystonia"

 
Neurology ; 81(13):1148-51 ; September 2013
 
17q12 duplications are a rare cause of familial febrile seizures and generalized epilepsy with febrile seizures plus
 
Consult the Pubmed abstract
 
To read more about "Generalized epilepsy with febrile seizures-plus context"

 
Neurology ; 81(16):1434-40 ; October 2013
 
Autosomal recessive early infantile epileptic encephalopathy due to homozygous missense variant in the gene TNK2
 
Consult the Pubmed abstract
 
To read more about "Early infantile epileptic encephalopathy"

 
Ann Neurol. ; 74(3):496-501 ; September 2013
 
The east Texas bleeding disorder is caused by the coagulation factor VA2440G via TFPIα
 
Consult the Pubmed abstract
 
J Clin Invest. ; 123(9):3777-87 ; September 2013
 
Glioblastoma: the integrated landscape of driver genomic alterations
 
Consult the Pubmed abstract
 
To read more about "Glioblastoma"

 
Nat Genet. ; 45(10):1141-9 ; October 2013
 
The facioscapulohumeral dystrophy (FSHD) type 2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD type 1
 
Consult the Pubmed abstract
 
To read more about "Facioscapulohumeral dystrophy"

 
Am J Hum Genet. ; 93(4):744-51 ; October 2013
 
Severe recessive osteogenesis imperfecta caused by a homozygous deletion of CREB3L1
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"

 
Orphanet J Rare Dis. ; 8(1):154 ; September 2013
 


 
Research in Action
 



 
Clinical Research
 
Mesothelioma: tremelimumab seems to have encouraging clinical activity and acceptable safety and tolerability although the effect size was small in a phase 2 trial
 
Consult the Pubmed abstract
 
To read more about "Mesothelioma"

 
Lancet Oncol. ; 14(11):1104-11 ; October 2013
 
Pancreatic carcinoma: chemotherapy with fluorouracil or gemcitabine is the optimum adjuvant treatment and reduces mortality after surgery by about a third
 
Consult the Pubmed abstract
 
To read more about "Pancreatic carcinoma"

 
Lancet Oncol. ; 14(11):1095-103 ; October 2013
 
Mucopolysaccharidosis type 4: review on advanced therapies
 
Consult the abstract
 
To read more about "Mucopolysaccharidosis type 4"

 
Expert Opinion on Orphan Drugs ; 1(10):805-818 ; October 2013
 
Autoimmune pancreatitis type 1: survival is similar in patients treated with immunomodulators plus steroids versus steroids alone and rituximab is effective for remission
 
Consult the Pubmed abstract
 
To read more about "Autoimmune pancreatitis type 1"

 
Gut ; 62(11):1607-15 ; November 2013
 
Pulmonary arterial hypertension: effect of pulmonary artery denervation on functional capacity and hemodynamics in patients not responding optimally to medical therapy
 
Consult the Pubmed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

 
J Am Coll Cardiol. ; 62(12):1092-100 ; September 2013
 
Juvenile idiopathic arthritis: systematic review on efficacy of biological agents
 
Consult the Pubmed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Ann Rheum Dis. ; 72(11):1806-12 ; November 2013
 
Severe epidermolysis bullosa: blood and marrow transplantation can attenuate the mucocutaneous manifestations and improve quality of life
 
Consult the Pubmed abstract
 
To read more about "Severe generalized recessive dystrophic epidermolysis bullosa"

 
Lancet ; 382(9899):1214-23 ; October 2013
 
Beta-thalassemia major: patients’ quality of life transplanted more than twenty years ago is similar to those of the general population
 
Consult the Pubmed abstract
 
To read more about "Beta-thalassemia major"

 
Blood ; 122(13):2262-70 ; September 2013
 
Therapeutic prospects in amyotrophic lateral sclerosis, spinal muscular atrophy and dystrophy, intellectual disabilities and central nervous system viral infections
 
Consult the abstracts
 
To read more about "Amyotrophic lateral sclerosis"
To read more about "Proximal spinal muscular atrophy"
To read more about "Duchenne muscular dystrophy"
To read more about "Duchenne and Becker muscular dystrophy"
To read more about "Facioscapulohumeral dystrophy"
To read more about "Steinert myotonic dystrophy"
To read more about "Proximal myotonic myopathy"

 
Ann Neurol. ; 74(3):309-16, 348-62, 382-90, 404-11, 412-22 ; September 2013
 
Primary immunodeficiency: current progress on gene therapy
 
Consult the Pubmed abstract
 
To read more about "Primary immunodeficiency"

 
Gene Ther. ; 20(10):963-9 ; October 2013
 
Systemic sclerosis: submaximal heart and pulmonary evaluation as a novel noninvasive test to identify pulmonary hypertension
 
Consult the Pubmed abstract
 
To read more about "Limited systemic sclerosis"
To read more about "Diffuse cutaneous systemic sclerosis"

 
Arthritis Care Res (Hoboken). ; 65(10):1713-8 ; October 2013
 
Faciobrachial dystonic seizures are controlled more effectively with immunotherapy than with anti-epileptic drugs
 
Consult the Pubmed abstract
 
Brain ; 136(Pt 10):3151-62 ; October 2013
 
Hereditary hyperekplexia: genotype-phenotype correlations in apnoeas, learning difficulties and speech delay
 
Consult the Pubmed abstract
 
To read more about "Hereditary hyperekplexia"

 
Brain ; 136(Pt 10):3085-95 ; October 2013
 
Therapeutic Approaches
 

 
Topical enzyme-replacement therapy restores transglutaminase 1 activity and corrects architecture of transglutaminase-1-deficient skin grafts in a skin-humanized mouse model
 
Consult the Pubmed abstract
 
To read more about "Lamellar ichthyosis"
To read more about "Congenital non-bullous ichthyosiform erythroderma"
To read more about "Self-healing collodion baby"
To read more about "Bathing suit ichthyosis"

 
Am J Hum Genet. ; 93(4):620-3 ; October 2013
 
Glioblastoma: CSF-1R inhibition alters macrophage polarization and blocks the progression in a mouse proneural glioblastoma multiforme model
 
Consult the Pubmed abstract
 
To read more about "Glioblastoma"

 
Nat Med. ; 19(10):1264-72 ; October 2013
 
Transmissible spongiform encephalopathy: oral treatment targeting the unfolded protein response prevents neurodegeneration and clinical disease in prion-infected mice
 
Consult the Pubmed abstract
 
To read more about "Transmissible spongiform encephalopathy"

 
Sci Transl Med. ; 5(206):206ra138 ; October 2013
 
Diagnostic Approaches
 

 


 
Patient Management and Therapy
 
Spinal muscular atrophy with respiratory distress: 190th European NeuroMuscular Center (NMC) international workshop
 
Consult the Pubmed abstract
 
To read more about "Spinal muscular atrophy with respiratory distress"

 
Neuromuscul Disord. ; 23(7):602-9 ; July 2013
 
Central diabetes insipidus: desmopressin can provide effective and safe therapy for patients with neurohypophyseal or gestational diabetes
 
Consult the Pubmed abstract
 
To read more about "Central diabetes insipidus"

 
J Clin Endocrinol Metab. ; 98(10):3958-67 ; October 2013
 
SAPHO syndrome: review on therapeutic strategies
 
Consult the abstract
 
To read more about "SAPHO syndrome"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 10 , Pages 773-780 ; October 2013
 
Scleromyxedema: review on pharmacotherapy
 
Consult the abstract
 
To read more about "Scleromyxedema"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 10 , Pages 781-792 ; October 2013
 
Papillary carcinoma of the corpus uteri: review on treatments
 
Consult the abstract
 
To read more about "Papillary carcinoma of the corpus uteri"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 10 , Pages 819-827 ; October 2013
 
Familial amyloid polyneuropathy: tafamidis evaluation for the treatment
 
Consult the abstract
 
To read more about "Familial amyloid polyneuropathy"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 10 , Pages 837-845 ; October 2013
 
Bilateral striopallidodentate calcinosis: literature review of current evidence
 
Consult the Pubmed abstract
 
To read more about "Bilateral striopallidodentate calcinosis"

 
Systemic sclerosis: an American college of rheumatology/European league against rheumatism collaborative 2013 classification criteria
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Arthritis Rheum. ; Epub ahead of print ; October 2013
 
Alpha-1-antitrypsin deficiency: augmentation therapy evaluation
 
Consult the Pubmed abstract
 
To read more about "Alpha-1-antitrypsin deficiency"

 
Orphanet J Rare Dis. ; 8(1):149 ; September 2013
 
Chronic myeloid leukemia: omacetaxine mepesuccinate for the disease management
 
Consult the abstract
 
To read more about "Chronic myeloid leukemia"

 
Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 745-754 ; September 2013
 
Seventeen new Clinical Utility Gene Cards and four Clinical Utility Gene Cards updates published in the European Journal of Human Genetics
 
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 seventeen new Clinical Utility Gene Cards for:
Huntington’s disease
Xeroderma pigmentosum
16p13.11 microdeletion syndrome
Cystinosis
Progressive familial intrahepatic cholestasis type 3
Von Hippel–Lindau (VHL)
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 2
Choroideremia
Alagille Syndrome (ALGS)
Vici syndrome
Beckwith–Wiedemann syndrome
Tuberous sclerosis complex (TSC1, TSC2)
Hereditary thrombocythemia
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Johanson–Blizzard syndrome
Catecholaminergic polymorphic ventricular tachycardia

 
The European Journal of Human Genetics has published four Clinical Utility Gene Cards updates for:
 
Hypophosphatasia
3-M syndrome
Achromatopsia
Alström syndrome

 


 
Orphan Drugs
 
Regulatory News
 

 
8 positive opinions recommending orphan designation at the September 2013 COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted eight positive opinions issued at the October 2013 COMP meeting for:

• Autologous ex-vivo-expanded leucocytes treated with 5-aza-2’-deoxycytidine for treatment of glioma
• Defibrotide for prevention of graft-versus-host disease
• Recombinant human insulin receptor monoclonal antibody-fused iduronate 2-sulfatase for treatment of mucopolysaccharidosis type II (Hunter's syndrome)
• Sorafenib tosylate for treatment of follicular thyroid cancer
• Sorafenib tosylate for treatment of papillary thyroid cancer
• Human monoclonal antibody against human interleukin 13 for treatment of eosinophilic oesophagitis
• Ibrutinib for treatment of diffuse large B-cell lymphoma
• Sirolimus for prevention of arteriovenous access dysfunction in patients undergoing surgical creation of an arteriovenous access for haemodialysis
Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

 
Political and Scientific News
 
StaR Child Health: improving global standards for child health research
 
Standards for Research (StaR) in Child Health, founded in 2009, addresses the current scarcity of and deficiencies in pediatric clinical trials. It is an initiative that brings together leading international experts, methodologists, clinicians and policy makers seeking to improve the quality of design, conduct, and reporting of pediatric clinical research by promoting the use of modern research standards. This goal will be achieved through a systematic “knowledge to action” plan
  • raising awareness of the crucial importance of research design, conduct, and reporting of clinical research,
  • assisting in the development, dissemination and implementation of evidence-based standards for clinical research with children,
  • becoming a global centre providing resources and training relating to the design, conduct, and reporting of clinical research with children,
  • and conducting empirical research on design, conduct and reporting of clinical research in children.

  • StaR Child Health creates opportunities to improve the evidence base for child health across the world. To date, six standards have been published and four more are under development. It is now time to use these standards. Improving the design, conduct and reporting of pediatric clinical trials will ultimately advance the quality of health care provided to children across the globe.
    Visit the StaR Child Health website

    Consult the abstract


     


     
    Grants
     


     
    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 French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY SOON!
     
    The French Foundation for rare diseases (Fondation maladies rares) and The World Academy of Sciences (TWAS) are opening a joint programme to support collaborative initiatives on rare diseases research. Under the first phase of this programme, researchers from the Mediterranean area (North Africa and the wider Middle Eastern region) are encouraged to initiate and/or strengthen cross-national research collaborations in the field of rare diseases. This call is open to collaborative initiatives (conference, workshop, training course) concerning any rare diseases, except cancers. Co-organization of collaborative events with French research teams is encouraged.
    Eligible countries: Afghanistan, Algeria, Bahrain, Egypt, Iran, Iraq, Jordan, Kuwait, Lebanon, Libya, Morocco, Oman, Palestine, Pakistan, Qatar, Saudi Arabia, Syria, Tunisia, Turkey, United Arab Emirates, Yemen
    Proposals should be submitted by email to: mahdavi@twas.org Deadline: 12 November 2013.
    Full details of the call are available online:
    French Foundation for rare diseases
    TWAS
    Contact points:
    TWAS: Maria Teresa Mahdavi mahdavi@twas.org
    French Foundation for rare diseases: Estelle Chanudet-van den Brink estelle.chanudet@fondation-maladiesrares.com

     
    Call for research proposal in Lowe Syndrome
     
    Lowe Syndrome Trust invites applications for research funding for Lowe Syndrome Trust. The genetic basis for Lowe Syndrome is a defective gene OCRL1 that results in the deficiency of an enzyme Phosphatidylinositol 4,5-bisphosphate-5-phosphatase (OCRL1). Lowe’s oculocerebrorenal syndrome is a disorder affecting the brain, eyes, kidneys and bones. Research funds are available of up to £100,000 in the first instance, for funding a research studentship or assistant in understanding how the enzyme deficiency leads to observed phenotype.
    Previous Lowe grant recipients are also invited to apply for a continuation grant.
    For further information and Application Form please contact
    Lorraine Thomas, Lowe Syndrome Trust
    Telephone 0207 794 8858
    or download an application form via website www.lowetrust.com
    email: lowetrust@gmail.com
    Closing date for applications 29 November 2013

     


     
    Courses & Educational Initiatives
     
    1st Asia Pacific Inborn Errors of Metabolism course
     
    Date: 09-11 January 2014
    Venue: Tokyo, Japan

    The 1st Asia Pacific Inborn Errors of Metabolism course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems For more information and to register (before November 20th), please visit www.orphan-europe-academy.com

     
    European Cytogeneticists Association Courses
     
    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 2014 course is now available. For Further details
     
    Workshop: Implementation of clinical genetic databases
     
    Date: 17th December 2013
    Venue: Manchester, UK

    This workshop will provide training for current and future implementers of accessible or shared databases for collection of actionable clinical genotype and phenotype data. Training will cover:
    • Tools and resources used in the process of creating and running a database
    • Standards important for databasing
    • Strategies for successful planning and implementation of a database project
    The workshop will include practical computer-based training and group exercises to explore the resources available and the issues relating to sustainable database implementation.
    Contact kathryn.robertson@cmft.nhs.uk to register your interest.
    More information can be found on the EuroGentest website (click here).

     


     
    What's on Where?
     

     
    The 8th ICORD Meeting
     
    Date: 1-2 November 2013
    Venue: St Petersburg, Russia

    The annual ICORD conference gathers representatives of government, academia, patients organisations. An opportunity for collaboration for patients, researchers, seekers of new projects and products and advocates for those affected by rare diseases.
    For further details

     
    First International Primary Immunodeficiencies Congress (IPIC)
     
    Date: 7-8 November 2013
    Venue: Estoril, Portugal
    The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
    For further details

     
    EUROPLAN National Conferences Lithuania
     
    Date: 14 November 2013
    Venue: Vilnius, Lithuania

    Organised by Ministry of Health

     
    EUROPLAN National Conferences The Netherlands
     
    Date: 14-15 November 2013
    Venue: The Netherlands

    Organised by VSOP; the Dutch Genetic Alliance
    For further details go to http://www.vsop.nl

     
    5th European Symposium on Rare Anaemias
     
    Date: 15-16 November 2013
    Venue: Ferrara, Italy

    The 5th European Symposium on Rare Anaemias is an activity within ENERCA project to disseminate and up-to-date knowledge on rare anaemias and, at the same time, increases their awareness. An integrated in the framework of the 5th European Symposium on Rare Anaemias, the three organizers (ENERCA, UNITED and TIF) have collaborated in setting up the 1st Italian Thalassaemia meeting for patients and health professionals in Ferrara.
    For further details

     
    EUROPLAN National Conferences Italy
     
    Date: 15-16 November 2013
    Venue: Rome, Italy

    Organised by Federazione italiana malattie rare (UNIAMO)
    www.uniamo.org

     
    EUROPLAN National Conferences Luxembourg
     
    Date: 19-20 November 2013
    Venue: Luxembourg

    Organised by Luxembourg Alliance for Rare Diseases and Neuro Muscular Diseases (ALAN)
    For further details go to www.alan.lu/alan

     
    The International GSD Conference 2013
     
    Date: 28-30 November 2014
    Venue: Heidelberg, Germany

    The International GSD Conference 2013 (IGSD13) is a scientific conference for all types of glycogen storage disease (GSD). IGSD13 is organised by the German GSD Patients Support Group, the scientific program is put together by an international advisory committee; the conference is CME accredited (Germany, Europe). The conference is open for the participation of patient association representatives and individual patients and will include contributions from patients.
    For further information

     
    EUROPLAN National Conferences Serbia
     
    Date: 5-6 December 2013
    Venue: Belgrade, Serbia

    Organised by NORBS; Serbian National Organization for Rare Diseases
    For further details go to www.norbs.rs>

     
    EUROPLAN National Conferences France
     
    Date: 13 January 2014
    Venue: Paris, France

    Organised by Alliance Maladies Rares
    For further details go to www.alliance-maladies-rares.org

     
    EUROPLAN National Conferences Spain
     
    Date: 24 January 2014
    Venue: Burgos, Spain

    Organised by FEDER; the Spanish Alliance for Rare Diseases
    For further details go to www.enfermedades-raras.org

     
    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

     
    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

     
    19th Congress of the European Association of Hospital Pharmacists
     
    Date: 26-28 March 2014
    Venue: Barcelona, Spain

    For further details

     
    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

     
    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

     
    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

     
    Commercial events

     
    Explaining the Price of Orphan Drugs
     
    Date: 14-15 November 2013
    Venue: Geneva, Switzerland

    This commercial event will bring together orphan drug developers, European payers and HTA experts to shape industry understanding on orphan drug pricing and create stakeholder alignment when discussing the value of an orphan drug.
    For Further Information

     
    World Orphan Drug Congress 2013
     
    Date: 14 November 2013
    Venue: Geneva, Switzerland

    This commercial conference and exhibition bringing together buyers, sellers and key influencers from across the orphan and rare disease industry. Having welcomed over 1000 orphan and rare disease stakeholders in only its 3 year history, the event in Europe’s logical choice for Biotech and Pharma orphan drug players who want to meet Rare Disease Networks, Patient Groups, COMP Members, HTA Experts, Regulators and Payers.
    For Further Information

     
    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

     


     
    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

    INTERNATIONAL CORRESPONDENTS
    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
    Orphanet - All rights reserved
    Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)