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PARENT Joint Action: bringing EU registries into the spotlight

The PARENT Joint Action (Cross-border Patient Registries Initiative) was funded through the Second Public Health Programme from May 2012 until November 2015. The main objective of PARENT was to support European Member States in setting-up, developing and governing patient registries in areas of strategic importance such as chronic diseases and medical devices, safety and health technology assessment. Rare diseases became an important focus of this work, and strong synergies were built with various rare disease initiatives, to ensure the applicability of the outputs for the rare disease field.

PARENT sought to promote registries’ comparability and interoperability to facilitate the re-use of data for public health and research purposes, thus maximising the potential of digital patient data in Europe. Coordinated by the National Institute of Public Health of the Republic of Slovenia (NIPH), the partners developed numerous important outputs to support the operation of existing registries, as well as guidance for stakeholders wishing to set-up new registries:

Methodological Guidelines and Recommendations for Efficient and Rational Governance of Patient Registries: This deliverable provides a comprehensive overview of registry design, operation and utility, with emphasis on the use of information technology. It explains the various types of registries and provides practical, detailed advice on how to set-up and manage patient registries, covering all aspects of the process. The Guidelines define essential quality components of registries (including but not limited to considerations around data quality). There are specific sections dedicated to the concept of interoperability and how to achieve this, on how to enable secondary use of data for public health policy and research, on sharing data across borders, and more. The PARENT Guidelines received the recommendation of the eHealth Network in November 2015.

Pilot Registry of Registries (http://www.parent-ror.eu/): To improve awareness of existing European registries, PARENT conducted a survey and developed a Registry of Registries (RoR). This resource currently contains over 200 registries and is searchable by, for instance, registry type and purpose. Some rare disease registries are also included in this RoR.

Wiki tool - internet searchable and editable Guidelines: The aforementioned Methodological Guidelines and Recommendations have been translated into a Wiki-tool to allow registry users to search the Guidelines and -importantly- update and maintain them in future.

Report on the role of registries and future actions: This report explores the potential for registries to support cross-border healthcare, and identifies challenges and future opportunities in the context of the EU digital data infrastructure. The partners analysed the role assigned to registries in the Cross-Border Healthcare Directive (2011/24/EU) and noted that the only explicit mention occurs in Article 12, in connection with European Reference Networks: since one of the main targets of ERNs is rare diseases, the importance of rare disease registries becomes very clear.

Report on the sustainability of cross-border collaboration on secondary use of registry data: The consortium explored the use of business models to better understand the trends and options available for achieving sustainability of registries with a cross-border scope, to support re-use of valuable data. The analysis underlined the need to align eHealth and patient registries activities on national and EU-level and demonstrated how the PARENT Framework and tools can be utilized for this purpose.

In summary, PARENT’s major achievement was to bring EU patient registries into the spotlight and to explore their role in the context of implementing the Cross-border Healthcare Directive. Important steps were taken along the road to interoperable cross-border eHealth services. The outputs of PARENT will be incorporated to the ongoing activities of initiatives such as the Joint Action to support the eHealth Network (JAseHN), EUnetHTA JA3, and RD-ACTION.

A full list of deliverables is available here

Spotlight on...
Review of existing technical implementation for rare disease coding in Europe
Coding rare diseases in health information systems or registries is a necessary step to enable wide data analysis across a country, and across Europe. In order to understand and update the knowledge about medical coding and to get a more complete view of the coding systems in all participating countries, a survey was conducted. This was to achieve the first year’s goal for the RD-ACTION Joint Action Work Package 5. The results of this survey has been published. French APHP and German DIMDI teams worked together to identify key questions that needed to be answered regarding the coding systems in participating countries. The participants of this survey were mainly clinicians/clinical geneticists. Few were experts of the survey subjects.

The following are the results of the survey in brief:
Recording Morbidity: Most of participating countries have a national regulatory system to record morbidity, which is often linked to the reimbursement system and mainly use ICD-10 codes. It is mostly recorded for in-patient care, but half of the respondents record other kinds of care as well. The quality of information about morbidity collected in the national information system (for RD) are poorly rated and it is not exhaustive. Half of the participating countries have a centralised management of the coding system for morbidity but it is not always possible to link records based on a patient identifier for RD patients.

Recording Mortality: Participating countries usually have a national regulatory system to record mortality, using ICD-10. In 2/3rd of the participating countries there is a centralised management of the coding system for mortality. Less than half of the participants confirmed there is a patient identifier available in their country, which is not always linked to the patient ID for mortality.

Information on Registries: A specific coding policy for RD has been set up in 5 countries, always in the framework of a national programme linked to RD registries or national data repository and 2 countries started with a pilot project. Half of participants declare a specific coding policy is under discussion.
More than half of the respondents do not have a clear knowledge of current RD registries in their country. The harmonisation of diagnosis coding RD in existing registries was poorly rated, so was the prevalence and incidence data value. A third of the participating countries have a national program to integrate registries.

National & International Policy Developments
Other European news
Portugal recognises Reference Centres which includes centres for rare diseases
In Portugal, a proposal from the National Commission for the reference centres was officially recognised by the Portuguese Minister of Health Reference Centres for many disease areas. In the area of rare diseases, Reference Centres have been recognised for the clinical areas of Family Paramyloidosis and Hereditary Metabolic Disorders. The reference centre for Family Paramyloidosis is at Centro Hospitalar do Porto, E.P.E. and Centro Hospitalar Lisboa Norte, E.P.E. Reference centres for Hereditary Metabolic Disorders will be at Centro Hospitalar de São João, E.P.E., Centro Hospitalar do Porto, E.P.E., Centro Hospitalar e Universitário de Coimbra, E.P.E., Centro Hospitalar Lisboa Norte, E.P.E.

For further information on reference centres is Portugal visit their National Health Service website

Other International News
The Muscular Dystrophy Coordinating Committee Action Plan for the Muscular Dystrophies
Muscular Dystrophy Coordinating Committee (MDCC) coordinates muscular dystrophy activities across the National Institutes of Health (NIH), with other Federal agencies and muscular dystrophy patient organizations. Recently, the MDCC 2015 Action Plan for the Muscular Dystrophies has been published, which outlines priority areas for improving treatments and reducing the personal and societal impacts of all types of muscular dystrophy. It is intended to be a blueprint for the entire muscular dystrophy community. All stakeholders, including academic researchers, companies, government agencies, patient advocacy groups, and patients and their families, have a shared responsibility for meeting the needs described herein, and thereby improving the lives of people living with muscular dystrophy.

The priority areas covered by the MDCC 2015 Action Plan include understanding causes, screening and diagnosis, developing treatments, preparing for clinical Trials, providing care, management and access to services.
Read the Action Plan here

Orphan drug reimbursement in South Korea
A study published in Health Policy describes “the process and results of drug reimbursement decision-making in South Korea and evaluates its performance from the perspectives of the various stakeholders involved.” One of the conditions for Pharmaceutical Benefit Coverage Assessment Committee in South Korea to recognise a drug as essential, is if the drug is used for very rare diseases, and is considered necessary to treat those patients. South Korea reimburses these drugs entirely. However, according to the authors the reimbursement has not been consistent, although there has been an improvement after 2007 but accessibility to new drugs has reduced. The authors call for a more transparent approach towards reimbursement policies in South Korea.
Access the article

Guidance Documents and Recommendations
Familial Mediterranean fever: recommendations for the management
Consult the Pubmed abstract
To read more about "Familial Mediterranean fever"

Ann Rheum Dis. ; 75(4):644-51 ; April 2016
Bioinformatics, Registries and Data Management
Paediatric cancer stage in population-based cancer registries: the Toronto consensus principles and guidelines
Since childhood cancer represents a small percentage of the overall cancer burden, information on staging childhood cancer is limited. This information is important when creating registries for in order to assess incidence and outcomes. Recommendations on staging systems to be adopted by population-based cancer registries for the 18 major childhood malignancies is published in Lancet Oncology. These recommendations are based on a qualitative study of the opinions of experts and stakeholders. The resultant tiered, paediatric-specific staging systems for paediatric cases by cancer registries can be used in all countries, all income levels, and integrated into registry manuals. Named the Toronto Paediatric Cancer Stage principles, guidance is provided on how paediatric cancer stage in population-based cancer registries should be collected. They provide guidance on the rationale for collecting the data, relation to adult cancer staging, specificities of paediatric staging systems and finally on its adaptation for resource-limited settings.

The authors believe that “wide adoption of these guidelines in registries will ease international comparative incidence and outcome studies.”
Access the article


Ethical, Legal & Social Issues
The collaborative network approach: a new framework to accelerate Castlemans disease and other rare disease research
Two reviews published in Yale Journal of Bology and Medicine and Lancet Haematology describe how a novel approach by the Castleman Disease Collaborative Network (CDCN) has helped funding and initiating research to accelerate progress towards finding a treatment for Castleman Disease (CD).

The authors state that typically disease research organisations raise funds after which they invite research proposals to be evaluated for these funds, while at the same time provide resources to patients, including referrals to experts, who collect and store clinical data and biomaterials at their respective institutions. According to the authors, this process can result in only a small selection of researchers with requisite data to apply rather than high impact collaborative studies.

CDCN was established with a view to “accelerate research through a targeted, collaborative, and patient-centric approach.” They first identified and connected a global community of physicians and researchers. After establishing the International Research Agenda the CDCN has funded and provided logistical support to launch five priority projects. Finally they executed the prioritised research by inviting research proposals. According to the authors, this approach “has contributed to important progress for the field by increasing collaboration, focus, and community consensus.”

The authors believe that this inclusive strategy will be greatly beneficial to the CD patients as it will advance “scientific discovery and supports scientists, who can often struggle to identify funding and tissue samples to test their hypotheses,” thus serving as model approach for other rare disease research organisation.

The Lancet Haematology has published a series of idiopathic multicentric Castleman’s disease cases, which the CDCN also use these data to “inform the establishment of international, consensus diagnostic criteria for idiopathic multicentric Castleman’s disease.”
Access the article
Access the article

Investing in health care research systems for rare disease therapies: why and how
Authors of a review published in Genetics in Medicine suggest hybrid study designs that “integrates elements of practice-based observational research and pragmatic trials hold the most promise for addressing priorities that include minimizing bias, accounting for co-interventions, identifying long-term impacts, and considering clinical heterogeneity”. According to the authors, investment in healthcare systems research for rare diseases in paramount and emphasize a need to identify the appropriate outcomes, study designs, and stakeholder - engagement strategies to facilitate the successful implementation of new therapies toward improved care and health for patients and their families. They review how effectiveness of outcomes can be defined for incremental and transformative therapies. They illustrate how ideal study designs can ensure that new therapies are translated appropriately to provide improved outcomes for patients. The authors emphasise the importance of actively engaging stakeholders for appropriately evaluating the value of these evidence-generation activities. They believe that a knowledge exchange infrastructure is needed to understand the priorities of stakeholders.
Access the article

Health activism in the digital age
Authors of an article published in Information, Communication and Society described the current role of digital media to expand health discourse in embodied health movements (EHMs) by focussing on rare disease patient organisations. The article describes the Health Social Movements in drawing historical context for their work. According to the authors “the digital mechanisms used in EHM patient organisation websites generate different dynamics for health knowledge sharing (one-way communication processes), exchange (two-way communication processes) and co-production (crowdsourced communication processes), where individuals can engage in different forms of health activism.”
Access the article

Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy
An article published in European Journal of Human Genetics evaluated the coping mechanisms of mothers of patients suffering from Duchenne and Becker muscular dystrophy (DBMD). They found that “worse functional status in the child was associated with higher perceived caregiver burden, and approximately 50% of mothers reported a high level of burden.” However, predicted psychological adaptation was not affected over the long-term, in fact increasing resilience which may be because of several other influences that factor in. According to the authors, “there was no association between a child’s functional status and psychological adaptation, and yet mothers’ age confounded the relationships of positive predictive impact and resilience with psychological adaptation.” The authors believe that efforts should be made to increase resilience among these mothers.
Read the PubMed abstract

How Kalydeco is covered in newspaper in Canada and the United States
A review on the opinion of Kalydeco – well know cystic fibrosis drug - in the newspapers in Canada and United States, is published in Journal of Cystic Fibrosis. A content analysis of the newspaper articles on Kalydeco revealed that most of the stories were about individuals seeking public funding for the drug, but only a miniscule articles mentioned any budgetary limitations. However, in the United States, which does not have a single payer healthcare coverage system, about half of the stories were of economic issues and about a fourth of the articles were scientific in nature.
Read the PubMed abstract


New Syndromes

Triplication of 16p12.1p12.3 associated with distinctive facial features, developmental delay and growth delay
The authors reported two unrelated patients with de novo triplication of 16p12.1p12.3 who had developmental delay and similar facial features. The first patient is a 4-year-old male with a congenital heart anomaly, bilateral cryptorchidism, chronic constipation, and developmental delay. The second patient is a 12-year-old female with prenatally diagnosed hydronephrosis, hepatobiliary disease, failure to thrive, and developmental delay. Distinctive facial features common to both patients included short palpebral fissures, bulbous nose, thin upper vermillion border, apparently low set ears, and large ear lobes. Another patient with triplication of 16p12.2 was also previously reported.
Consult the Pubmed abstract

Am J Med Genet A. ; 170(3):712-6 ; March 2016
A possible novel frontonasal dysplasia syndrome associated with deletion of the SIX2 gene in a family
The authors reported a family with a dominantly inherited craniofacial phenotype comprised of frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior fontanelle, cranial base anomalies, and sagittal synostosis. Chromosomal microarray identified a heterozygous deletion of the SIX2 gene.
Consult the Pubmed abstract

Am J Med Genet A. ; 170(2):487-91 ; February 2016
A distinct X-linked syndrome involving joint contractures, cardiac valvulopathy, keloids, large optic cup-to-disc ratio, and renal stones results from a FLNA mutation
In two articles, a novel X-linked syndrome involving joint contractures, keloids, increased optic cup-to-disc ratio, renal stones, cardiac valvular disease and reduced joint mobility was described. A mutation in FLNA was found in association with this syndrome.
Consult the Pubmed abstracts

Am J Med Genet A. ; 170(4):881-90; 891-5 ; April 2016
Hermansky-Pudlak syndrome type 10 associated with mutations in AP3D1 in a patient
The authors studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalised seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous mutation in AP3D1. The authors proposed to classify that novel disease as Hermansky-Pudlak syndrome type 10.
Consult the Pubmed abstract

Blood ; 127(8):997-1006 ; February 2016
BASCULE syndrome, a new vasomotor dermatosis with Bier's anaemic spots, cyanosis and urticaria-like eruption
The authors reported four cases of a new vasomotor dermatosis characterised by Bier’s anaemic spots associated with cyanosis and urticaria-like eruption. Venous stasis appeared to be the main cause. The acronym BASCULE (Bier’s Anaemic Spots Cyanosis Urticarial-Like Eruption) was proposed to designate that syndrome.
Consult the Pubmed abstract

Br J Dermatol. ; March 2016
Autosomal recessive adolescent onset distal myopathy caused by ADSSL1 mutation in four patients
Four patients from two unrelated Korean families presented with an autosomal recessive adolescent onset distal myopathy. Their phenotype included distal dominant weakness, facial muscle weakness, rimmed vacuoles, and mild elevation of serum creatine kinase. Exome sequencing identified compound heterozygous mutations in ADSSL1.
Consult the Pubmed abstract

Ann Neurol. ; 79(2):231-43 ; February 2016

New Genes

Simpson-Golabi-Behmel syndrome type 2 linked to a recurrent germline mutation in PIGA
Consult the Pubmed abstract
To read more about "Simpson-Golabi-Behmel syndrome type 2"

Am J Med Genet A. ; 170(2):392-402 ; February 2016
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy associated with homozygous frameshift deletion in CCDC88A in a multiplex consanguineous family
Consult the Pubmed abstract
To read more about "PEHO-like syndrome"

Brain ; 139(Pt 4):1036-44 ; April 2016
Early-onset Parkinson disease caused by DNAJC6 mutations
Consult the Pubmed abstract
To read more about "Young-onset Parkinson disease"

Ann Neurol. ; 79(2):244-56 ; February 2016
Benign infantile seizures and paroxysmal dyskinesia due to a heterozygous missense mutation in SCN8A in three families
Consult the Pubmed abstract
To read more about "Benign familial infantile epilepsy"
To read more about "Infantile convulsions and choreoathetosis"

Ann Neurol. ; 79(3):428-36 ; March 2016
Charcot-Marie-Tooth disease type 2 caused by recessive mutations in MME in ten patients
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 2T"

Ann Neurol. ; 79(4):659-72 ; April 2016
Lymphocytic hypereosinophilic syndrome linked to gain-of-function STAT3 mutation
Consult the Pubmed abstract
To read more about "Lymphocytic hypereosinophilic syndrome"

Blood ; 127(7):948-51 ; February 2016
Myelodysplastic syndrome, acute myeloid leukaemia and follicular lymphoma associated with germline and somatic DDX41 mutations
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"
To read more about "Myelodysplastic syndrome"
To read more about "Follicular lymphoma"

Blood ; 127(8):1017-23 ; February 2016
Foetal-like subgroup of juvenile myelomonocytic leukaemia linked to LIN28B overexpression
Consult the Pubmed abstract
To read more about "Juvenile myelomonocytic leukemia"

Blood ; 127(9):1163-72 ; March 2016
Neural tube defects and oral clefts: SLC46A1 polymorphisms as risk factors
Consult the Pubmed abstract
Am J Med Genet A. ; 170(4):1007-16 ; April 2016
Posterior urethral valve: BMP7, PIK3R3, TSPAN1, FGF12, FAT1, TBX2 and TBX4 as candidate genes
Consult the Pubmed abstract
To read more about "Posterior urethral valve"

Am J Med Genet A. ; 170(3):622-33 ; March 2016
Adult T-cell leukaemia/lymphoma: RHOA as a candidate gene
Consult the Pubmed abstract
To read more about "Adult T-cell leukemia/lymphoma"

Blood ; 127(5):596-604 ; February 2016

Research in Action

Clinical Research
Duchenne muscular dystrophy: eteplirsen-treated patients show a slower rate in decline in ambulation
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Ann Neurol. ; 79(2):257-71 ; February 2016
Juvenile idiopathic arthritis: mitigated results with etanercept and adalimumab treatment
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Ann Rheum Dis. ; 75(5):855-61 ; May 2016
West syndrome: adrenocorticotropic hormone treatment is more effective than other standard therapies
Consult the Pubmed abstract
To read more about "West syndrome"

Ann Neurol. ; 79(3):475-84 ; March 2016
Hepatic veno-occlusive disease: defibrotide is associated with significant improvement in survival
Consult the Pubmed abstract
To read more about "Hepatic veno-occlusive disease"

Blood ; 127(13):1656-65 ; March 2016
Haemophilia B: recombinant fusion protein linking coagulation factor IX with albumin treatment is safe and effective
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Hemophilia B"

Blood ; 127(14):1761-9 ; April 2016
Graft versus host disease: post-transplantation cyclophosphamide prevents the disease
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Blood ; 127(11):1502-8 ; March 2016
Osteogenesis imperfect type III: bisphosphonate treatment decreases progression rate of scoliosis
Consult the Pubmed abstract
To read more about "Osteogenesis imperfecta type 3"

Bone ; 86:53-7 ; May 2016
Systemic sclerosis-related pulmonary arterial hypertension: reduced efficiency with initial therapy with an endothelin receptor antagonist
Consult the Pubmed abstract
To read more about "Systemic sclerosis"
To read more about "Pulmonary arterial hypertension"

Arthritis Rheumatol. ; 68(3):740-8 ; March 2016
Neuromyelitis optica: evaluation of treatments
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

Ann Neurol. ; 79(2):206-16 ; February 2016
Anti-neutrophil cytoplasmic antibody-associated vasculitis: intravenous immunoglobulin is efficient and well tolerated
Consult the Pubmed abstract
To read more about "Anti-neutrophil cytoplasmic antibody-associated vasculitis"

Arthritis Rheumatol. ; 68(3):702-12 ; March 2016
Granulomatosis with polyangiitis and microscopic polyangiitis: mitigated results with azathioprine and methotrexate treatments
Consult the Pubmed abstract
To read more about "Granulomatosis with polyangiitis"
To read more about "Microscopic polyangiitis"

Arthritis Rheumatol. ; 68(3):690-701 ; March 2016
Hereditary spastic paraplegia: cohort study from 608 patients
Consult the Pubmed abstract
To read more about "Hereditary spastic paraplegia"

Ann Neurol. ; 79(4):646-58 ; April 2016
3q29 microdeletion syndrome: phenotype extension
Consult the Pubmed abstract
To read more about "3q29 microdeletion syndrome"

Am J Med Genet A. ; 170(4):999-1006 ; April 2016
Ring chromosome 14: expanding the ocular phenotype
Consult the Pubmed abstract
To read more about "Ring chromosome 14"

Am J Med Genet A. ; 170(4):1017-22 ; April 2016
Juvenile Paget disease: auricular ossification as a new feature
Consult the Pubmed abstract
To read more about "Juvenile Paget disease"

Am J Med Genet A. ; 170(4):978-85 ; April 2016
Loeys-Dietz syndrome: massive haemoptysis as a novel clinical sign
Consult the Pubmed abstract
To read more about "Loeys-Dietz syndrome"

Am J Med Genet A. ; 170(3):725-7 ; March 2016
Kabuki syndrome: body proportions
Consult the Pubmed abstract
To read more about "Kabuki syndrome"

Am J Med Genet A. ; 170(3):610-4 ; March 2016
Autosomal aneuploidies: radiographic study of axial skeletogenesis
Consult the Pubmed abstract
Am J Med Genet A. ; 170(3):676-87 ; March 2016
Therapeutic Approaches

Congenital factor VII deficiency: sustained correction using adeno-associated viral-mediated expression of zymogen FVII in dogs
Consult the Pubmed abstract
To read more about "Congenital factor VII deficiency"

Blood ; 127(5):565-71 ; February 2016
Aplastic anaemia: telomerase gene therapy rescues telomere length, bone marrow aplasia, and survival in mice
Consult the Pubmed abstract
Blood ; 127(14):1770-9 ; April 2016
Amyotrophic lateral sclerosis: adeno-associated virus–delivered extends survival & delays paralysis in mice
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Ann Neurol. ; 79(4):687-700 ; April 2016
Systemic sclerosis: nintedanib inhibits fibroblast activation and ameliorates fibrosis in mice
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Ann Rheum Dis. ; 75(5):883-90 ; May 2016
Zika virus disease: novel murine model
Consult the Pubmed abstract
To read more about "Zika virus disease"

Am J Trop Med Hyg. ; [Epub ahead of print] ; March 2016
Diagnostic Approaches

Paget disease of bone: development of a molecular test
Consult the Pubmed abstract
To read more about "Paget disease of bone"

Bone ; 84:213-21 ; March 2016
Beta-propeller protein-associated neurodegeneration: persistent elevation of neuron specific enolase and iron deposition on susceptibility-weighted imaging as clues for diagnosis
Consult the Pubmed abstract
To read more about "Beta-propeller protein-associated neurodegeneration"

Am J Med Genet A. ; 170(2):322-8 ; February 2016
Cardiofaciocutaneous syndrome: prenatal findings
Consult the Pubmed abstract
To read more about "Cardiofaciocutaneous syndrome"

Am J Med Genet A. ; 170(2):441-5 ; February 2016
Congenital muscular dystrophy: review on challenges and progresses in the diagnosis
Consult the Pubmed abstract
To read more about "Congenital muscular dystrophy"

Expert Opinion on Orphan Drugs. ; 4(4):347-358 ; April 2016
Heparin-induced thrombocytopenia: diagnostic value of immunoassays
Consult the Pubmed abstract
To read more about "Heparin-induced thrombocytopenia"

Blood ; 127(5):546-57 ; February 2016
Discriminating long myelitis of neuromyelitis optica from sarcoidosis
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"
To read more about "Sarcoidosis"

Ann Neurol. ; 79(3):437-47 ; March 2016
Succinate dehydrogenase-related infantile leukoencephalopathy: magnetic resonance imaging spectrum
Consult the Pubmed abstract
Ann Neurol. ; 79(3):379-86 ; March 2016
Chronic lymphocytic leukaemia: review on immunoglobulin heavy-chain variable status and fluorescence in situ hybridisation testing
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Blood ; 127(14):1752-60 ; April 2016

Patient Management and Therapy
Ethylmalonic encephalopathy: first liver transplant in a patient as a new treatment
Consult the Pubmed abstract
To read more about "Ethylmalonic encephalopathy"

Brain ; 139(Pt 4):1045-51 ; April 2016
Sickle cell anaemia: four reviews on treatments
Consult the Pubmed abstracts
To read more about "Sickle cell anemia"

Blood ; 127(7):810-9; 820-8; 829-38; 839-48 ; February 2016
Beta-thalassemia: review on orphan drugs and potential novel therapeutic approaches
Consult the abstract
To read more about "Beta-thalassemia"

Expert Opinion on Orphan Drugs. ; 4(3):299-315 ; March 2016
Angelman syndrome: review on targeted therapy
Consult the abstract
To read more about "Angelman syndrome"

Expert Opinion on Orphan Drugs ; 4(3):317-325 ; March 2016
Wiskott-Aldrich syndrome: review on genome editing
Consult the abstract
To read more about "Wiskott-Aldrich syndrome"

Expert Opinion on Orphan Drugs ; 4(3):281-289 ; March 2016
Recessive dystrophic epidermolysis bullosa: review on mesenchymal stem cell therapy
Consult the abstract
Expert Opinion on Orphan Drugs ; 4(4):343-345 ; April 2016
Mucopolysaccharidoses: review on haematopoietic stem cell transplantation
Consult the abstract
Sjögren-Larsson syndrome: review on genetics and therapeutic targets
Consult the abstract
To read more about "Sjögren-Larsson syndrome"

Expert Opinion on Orphan Drugs ; 4(4):395-406 ; April 2016
Juvenile idiopathic arthritis: review on theragnostic approach
Consult the abstract
To read more about "Juvenile idiopathic arthritis"

Expert Opinion on Orphan Drugs ; 4(3):269-280 ; March 2016
Tuberous sclerosis complex: review on targeted treatments
Consult the abstract
To read more about "Tuberous sclerosis complex"

Expert Opinion on Orphan Drugs ; 4(3):243-253 ; March 2016
Hereditary angioedema: review on conestat alfa for the treatment
Consult the abstract
To read more about "Hereditary angioedema"

Expert Opinion on Orphan Drugs ; 4(4):443-452 ; April 2016
Duchenne muscular dystrophy: review on bisphosphonate for the treatment
Consult the abstract
To read more about "Duchenne muscular dystrophy"

Expert Opinion on Orphan Drugs ; 4(4):407-416 ; April 2016
Amyotrophic lateral sclerosis: review on intraspinal stem cell transplantation
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Ann Neurol. ; 79(3):342-53 ; March 2016
Cholangiocarcinoma: review on multidisciplinary management and treatments
Consult the abstract
To read more about "Cholangiocarcinoma"

Expert Opinion on Orphan Drugs ; 4(3):255-267 ; March 2016
Myeloproliferative neoplasm: review on histone deacetylase inhibitors for the treatment
Consult the abstract
To read more about "Myeloproliferative neoplasm"

Expert Opinion on Orphan Drugs ; 4(4):417-427 ; April 2016
Multiple myeloma: review on proteasome inhibitors treatment
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Bone ; 86:131-8. ; May 2016
Multiple myeloma: review on cardiovascular complications of novel treatments
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Circulation ; 133(9):908-12 ; March 2016
Primary central nervous system lymphoma: review on autologous stem cell transplantation
Consult the Pubmed abstract
To read more about "Primary central nervous system lymphoma"

Blood ; 127(13):1642-9 ; March 2016
Leukodystrophy: review on gene therapy
Consult the abstract
Expert Opinion on Orphan Drugs ; 4(4):359-367 ; April 2016
Leigh syndrome: a review
Consult the Pubmed abstract
To read more about "Leigh syndrome"

Ann Neurol. ; 79(2):190-203 ; February 2016
Peripartum cardiomyopathy: a review
Consult the Pubmed abstract
To read more about "Peripartum cardiomyopathy"

Circulation ; 133(14):1397-409 ; April 2016
Hereditary spastic paraplegia: review on pathology, genetics and therapeutic prospects
Consult the abstract
To read more about "Hereditary spastic paraplegia"

Expert Opinion on Orphan Drugs ; 4(4):429-442 ; April 2016
Lymphangioleiomyomatosis: review on epidemiology, pathogenesis and diagnosis
Consult the abstract
To read more about "Lymphangioleiomyomatosis"

Expert Opinion on Orphan Drugs ; 4(4):369-378 ; April 2016
Special issue of the ‘American Journal of Medical Genetics’ on focal dermal hypoplasia
Consult the special issue
To read more about "Focal dermal hypoplasia"

Seminars in Cell & Developmental Biology ; 52(1-132) ; April 2016
Two new and eight updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Two new GeneReviews have been published for:
ADNP-related intellectual disability and autism spectrum disorder

Eight updated GeneReviews have been published for:
Bloom’s syndrome
Congenital erythropoietic porphyria
Diamond-Blackfan anaemia
Ehlers-Danlos syndrome, hypermobility type
KCNQ2-related disorders
Charcot-Marie-Tooth neuropathy type 2
Mucopolysaccharidosis type IVA
Carnitine palmitoyltransferase 1A deficiency


Orphan Drugs
Political and Scientific News
Multiple-criteria decision analysis on the Polish pricing and reimbursement of orphan drugs
A study published in Orphanet Journal of Rare Disease study assessed “the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan drugs.”

The authors developed an MCDA tool, created an orphan drug database, categorised the HTA recommendations and MCDA appraisals and finally, compared HTA recommendations and MCDA. They thus reviewed and evaluated 27 individual drug-indication pairs through an MCDA framework. The result of the study showed that an “MCDA approach may lead to different P&R outcomes compared to a standard HTA process.” According to the study, in 19 orphan drugs received positive MCDA opinions political there was agreement between MCDA and HTA and disagreement in 12 cases. The agreement was particularly if economic criteria were excluded in the base case. Disagreements between the two were when HTA gave a negative recommendation due to lack of clinical evidence. This was because “indication uniqueness, disease severity and rarity scored highest in the MCDA appraisal process.”
Access the article

Randomised controlled trials: are they the gold standard?
Authors of an article published in the Orphanet Journal of Rare Diseases analyse the current practices of randomized controlled trials (RCTs) in paediatric multiple sclerosis and Creutzfeldt-Jakob disease. They found that efficacy of treatments that undergo RCTs is variable and rare disease therapies may benefit from innovative trial designs and data analysis.
Read the PubMed abstract



Rare disease microgrants: Call for proposals
The Rare Disease Foundation and its partners, BC Children's Hospital Foundation, Canadian Organization for Rare Disorders and Global Genes, are delighted to offer microgrants of $3,500 for researchers engaged in any type of care-focused rare disease research. Microgrant competitions are held four times per year, applications are one page and decisions are returned in 15 business days. Next deadline: May 1, 2016.
For further information

Medical Research Grant Application Guidelines : Progeria Research Foundation
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
AFM Telethon: Call for proposals
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

Offer for financing research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Applicants must e-mail the completed form (including annexes) at the latest the day of the competition deadline to the following address: sgobeil@ctf.ca. Application deadline: May 20, 2016
For further information

International Call for Translational Research Projects focused on RNA as therapeutic target or as therapeutic product
AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Translational Research Projects on RNA as therapeutic target or as therapeutic product. This call is open to any research project aimed at accelerating promising research towards innovative therapies for neuromuscular and rare disorders, using RNA-based therapeutic or RNA as therapeutic target. Application deadline for proposals is 28 June 2016; announcement of awards is expected by end of December 2016 - mid January 2017. If you are interested in applying to this new Therapeutic RNA Call, please follow the proposal preparation instructions on the AFM-Téléthon website If you have any queries regarding the call or the application process, please contact Jean-François Briand at jfbriand@afm-telethon.fr or +33 (0)1 69 13 22 29
Care-for-Rare Science Award 2016
Endowed with 50.000,00 Euro. The Care-for-Rare Science Award, sponsored by the Werner Reichenberger Foundation, should give young scientists the chance to initiate a basic or clinical research project in the field of rare diseases.

The Care-for-Rare Foundation supports interdisciplinary and international scientific projects with the goal to elucidate the causes of rare diseases and to develop new innovative therapies for affected children. The application is open for single persons or groups of scientists with at least one member being affiliated with a research institution located in Germany. Junior researchers are explicitly encouraged to apply.
The complete application documents have to be submitted electronically by June 30, 2016.
For further information

Fondation René Touraine Fellowships
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.


Partnersearch, Job Opportunities
Position open at Orphanet France for Phenotypic indexing of rare diseases
Position open at Orphanet France to participate in the indexation of rare diseases with phenotypes of ontology "Human Phenotype Ontology" (international nomenclature of reference), implement the workflow between US14-Orphanet and "Human Phenotype Ontology" and participate in the quality control of data. This is a fixed term position (CDD), open to canditates eligible to work in France. Further details (in French) can be found here

Courses & Educational Initiatives
Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrdfoundation.org/www.rrdfoundation.org.

2nd Asia Pacific course: paediatric neurometabolic and movement Disorders Date: 10- 12 June, 2016
Venue: Taipei, Taiwan

Metabolic myopathies course Date: 3-5 November, 2016
Venue: Paris, France

ExPRESS 2016 Expert Patient and Researcher EURORDIS Summer School
Date: 6-10 June, 2016
Venue: Barcelona, Spain

Patients are taking on ever increasing roles in advocating for medicines development, equal access to treatments across Europe and ensuring that medical information is clear, accurate and comprehensible. In order to help preparing them for these roles and as part of its commitment to empowering people living with rare diseases, EURORDIS launched its own training programme for expert patients in 2008.

The programme has online and face-to face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course.
For further information

Summer School Medical Genetics 2016 - From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research
Date: 25-27 July, 2016
Venue: Tuebingen, Germany

Next-generation sequencing technology is profoundly changing the way of medical genetics research. Mining the generated rich and complex data to benefit patient health requires cross-disciplinary research efforts at the nexus of medicine, biology, and informatics.

With this Summer School, we focus precisely this multi-disciplinary interface, point out synergistic potential, and cover the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems, and to finally guide development of therapies and (personalized) clinical applications. A particular focus will be on neurological disorders such as Parkinson's disease, dystonias, ataxias, and related brain disorders.

The course is tailored towards PhD students and PostDocs working in the fields of biology, neuroscience, biochemistry, experimental medicine, and bioinformatics as well as clinicians, particularly medical doctors at the beginning of their specialization. The application deadline is May 27 2016.
For further information

4th Rare Diseases Summer School
Date: 13–15 July, 2016
Venue: Zurich, Switzerland

The 4 radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The application deadline is March 31 2016.
For further information


What's on Where?

8th Alstrom Syndrome International Conference
Date: 12-16 May, 2016
Venue: Massachusetts, USA

This international conference will have a scientific symposium for clinicians and researchers as well as sessions for parents, caretakers and patient organisations.
For further information

H2020 European Health/Rare Diseases Brokerage Event
Date: 12-13 May, 2016
Venue: Oslo, Norway

Here you can get information on the new Horizon 2020 « Health, Demographic change and Wellbeing » 2016-2017 calls dedicated to rare diseases. You can also get the chance to present your innovative project to the participants Meet potential partners from Europe and beyond and start building your consortium.
For further information

8th Alström Syndrome International Family Conference, Scientific Symposium, and Medical Clinic
Date: 12-13 May, 2016
Venue: Massachusetts, United States

Attendees expected include families and children from 40 states and 15 countries, and the conference simultaneously streams live in multiple languages over the internet. In addition, the effort will bring together top leaders from the global scientific and medical community to share advances in research, treatment options and information related to Alström Syndrome.
For further information

17th EMSOS Nurse and Allied professional Group Meeting
Date: 12-16 May, 2016
Venue: Massachusetts, USA

The meeting will be focussing on Ewing sarcoma, margins, pelvic tumours, targeted therapy; open sessions will offer the opportunity to report and discuss the latest results in all fields.
For further information

FDA Small Business Regulatory Education for Industry
Date: 17-18 May, 2016
Venue: Minnesota, USA

The goal of this conference is to provide direct, relevant, and helpful information on the key aspects of drug and device regulations. Our primary audience is that of small manufacturers of drug and/or device medical products who want to learn about how FDA approaches the regulation of drugs and devices.
PLENARY SESSION: FDA Insights on Products for Rare Diseases and Pediatrics
For further information

ECRIN's meeting on International Clinical Trials Day
Date: 20 May, 2016
Venue: Prague, Czech Republic

The 2016 celebration of International Clinical Trials Day aims to increase awareness of ECRIN and its Czech national scienti􀃖c partner – Czech Clinical Research Infrastructure Network (CZECRIN) – among Czech policymakers and the scientific community, as well as to address issues related to personalised medicine and multinational clinical trials.
For further information

ECRD 2016 : The European Conference on Rare Diseases & Orphan Products
Date: 26-28 May, 2016
Venue: Edinburgh, United Kingdom

The ECRD is the only event which, from its small beginnings, has united all rare disease stakeholders from all European nations- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases. The ECRD now brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels.
For further information

8th International WASOG Conference on Diffuse Perenchymal Lung Diseases
Date: 2-4 June, 2016
Venue: Gdansk, Poland

For further information

39th European Cystic Fibrosis Conference
Date: 8-11 June, 2016
Venue: Basel, Switzerland

The European Cystic Fibrosis Society is an international community of scientific and clinical professionals committed to improving survival and quality of life for people with CF by promoting high quality research, education and care.
For further information

21st International Waldenstroms Macroglobulemia Foundation Ed Forum
Date: 10-12 June, 2016
Venue: Rhode Island, United States

The theme this year is Imagine a Cure: Pathways to Progress to highlight the exciting Strategic Research Roadmap Initiative recently begun by the IWMF and the Leukemia & Lymphoma Society. The Ed Forum presents an excellent opportunity to hear about the latest in research and treatments.
For further information

International Meeting on Spastic Paraparesis and Ataxias
Date: 23-25 June, 2016
Venue: Paris, France

The fifth international meeting on spastic paraparesis and ataxias includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias) and short talks or poster presentations from junior researchers.
For further information

12th European Working Group on Gaucher Disease 2016 meeting
Date: 29 June-2 July, 2016
Venue: Zaragoza, Spain

This conference will be attended by international stakeholders in Gaucher disease and is an excellent opportunity to get information on advances towards better research and treatment.
For further information

9th International Cystinosis Congress
Date: 30 June - 3 July, 2016
Venue: Valencia, Spain

In collaboration with the Excellence in Pediatrics Institute, the Cystinosis Foundation is pleased to bring you a new and exciting conference format in response to your expressed interests.
For further information

19th Retina International World Congress in Taipei, Taiwan
Date: 13-14 July, 2016
Venue: Taipei, Taiwan

The Congress is organised by Retinitis Pigmentosa Taipei assisted by long-time Retina International member, Retina Hong Kong.
For further information

FEPS 2016
Date: 13-14 July, 2016
Venue: Bonn, Germany

The symposium will be a privileged moment to demonstrate through various examples and discuss the pivotal role of Physiological sciences in the discoveries related to rare inherited diseases.
For further information

14th MPS Symposium
Date: 13-14 July, 2016
Venue: Bonn, Germany

In this symposium you get informed about the latest developments in research on the metabolic disease MPS and related lysosomal storage diseases. It is a great forum for discovering what is new in the field of metabolic diseases research.
For further information

World Federation of Hemophilia
Date: 24-28 July, 2016
Venue: Orlando, United States

This is the largest international meeting for the global bleeding disorders community.
For further information

3rd European Aniridia Conference
Date: 27-28 August, 2016
Venue: Duisurg, Germany

Goal of the scientifical conference is an increase in knowledge about aniridia and broadening of network between researcher, doctor and scientists on a european scale to enhance the exchange between each other as well as developing future scientific research projects on aniridia as a joint effort.
For further information

ERS International Congress 2016
Date: 3-7 September, 2016
Venue: London, United Kingdom

Covering key topics in respiratory medicine from across the spectrum of disease areas including TB, lung cancer, pneumonia, cystic fibrosis, COPD, and asthma amongst others, the Congress is the best place to build skills and knowledge through hearing the latest topics in the field.
For further information

27th European Dysmorphology Meeting
Date: 8 -9 September, 2016
Venue: Le Bischenberg

The meeting offers ample opportunities for exchanges and discussion. This is facilitated by the unique setting of the Workshop and the friendly atmosphere. The workshop program includes 88 platform presentations.
For further information

European Association of Centres of Medical Ethics Conference
Date: 8 -10 September, 2016
Venue: Leuven, Belgium

The focus of this year’s conference is on a variety of highly relevant ethical issues in health care:
 Organizational Ethics in Health Care: Principles, Cases and Practical Solutions
 Ethical Issues in Care for Older Persons
 Ethical, Legal and Social Developments in Human Genomics
 Ethics and Integrity in Research
For further information

2nd International Conference on New Concepts in B Cell Malignancies
Date: 9-11 September, 2016
Venue: Estoril, Portugal

This conference aims at improving the understanding of the:
• principles and current developments of molecular pathogenesis of Bcell disorders
• the range of prognostic markers and their impact in specific clinical situations
• evolution of treatment principles in Bcell malignancies
• development of promising new agents targeting disease biology
• to improve understanding of key pathways driving expansion of normal vs. neoplastic Bcells
For further information

55th ESPE Annual Meeting
Date: 10-11 September, 2016
Venue: Paris, France

The theme of the meeting will be “Horizons in Paediatric Endocrinology” to capture the evolutionary and self-renewing nature of our specialty. The theme will also help evaluate the new challenges for paediatric endocrinology and discuss new and old medical, scientific and organisational paths.
For further information

9th ISNS International meeting/10th ISNS European Regional meeting
Date: 11-14 September, 2016
Venue: The Hague, the Netherlands

The conference will aid the sharing of neonatal screening experiences for congenital metabolic disorders, its clinical diagnostics and follow-up, and will facilitate learning from other experiences. The programme will consist of plenary lectures, oral presentations and poster sessions and will be attractive for professionals, patient/advocacy groups, policy makers and industrial partners. The programme will include evaluation of performance of neonatal screening systems and strategies for improvement.
For further information

4th Annual International Erdheim Chester Disease Medical Symposium
Date: 15 September, 2016
Venue: Paris, France

This social gathering will be an opportunity for fellowship among the Medical Symposium attendees and the ECDGA Board of Directors. We hope you will register to attend.
For further information

4th Annual International Erdheim Chester Disease Patient & Family Gathering
Date: 16 September, 2016
Venue: Paris, France

This gathering will provide opportunities to interact with the Erdheim Chester Disease medical research community and others in the health field. Sessions will be held on topics of interest for both patients and their families.
For further information

The 50th anniversary of the first publication on Rett Syndrome
Date: 15-17 September, 2016
Venue: Vienna, Austria

This conference is open to patients, clinicians, scientists, researchers and other healthcare professionals. Keynote lectures, oral presentations and posters aim at outlining History, (R)Evolution in Rett Syndrome, State of the Art, future trends and developments.
For further information

Rare metabolic disorders: detection, research, management and treatment
Date: 20-22 September, 2016
Venue: London, United Kingdom

This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
For further information

European Paediatric Stroke Symposium 2016
Date: 21-22 September, 2016
Venue: Lyon, France

The aim of this symposium is to address challenges of these conditions from a plural point of view, and to bring together multilateral experts in the field to reach high-level scientific discussions.
For further information

5th World Congress of Clinical Safety
Date: 21-23 September, 2016
Venue: Massachusetts, USA

The Boston Congress is organized by IARMM to improve and promote high advanced safe and clean science and technology. The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental helth & safety, food safety, and other related safety subjects.
For further information

ESID European Society for Immunodeficiencies: Biennial meeting
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference
Date: 10 October 2016
Venue: Vigo, Spain

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference aimed at medical and scientific professionals. Hosted by Professor Diana Valverde, in Vigo, Spain, Monday 10th October 2016. Contact AS EU Managing Director kay.parkinson@alstromsyndrome.eu

RareX featuring ICORD 2016
Date: 19-22 October 2016
Venue: Cape Town, South Africa

ICORD, Rare Disease International and the Rare Disease Society of South Africa invite you to ICORD 2016 in Cape Town, South Africa. Taking place in the context of Rare Diseases Week 2016, this is the first time that ICORD will be held in Africa. Join us and contribute to a legacy of prevention, treatment and study of rare diseases in Africa and around the world.
For further information

Cambridge Rare Disease Network (CRDN) 2nd annual International Rare Disease summit
Date: 25 October 2016
Venue: Cambridge, England

This event is aimed at key stakeholders from the International rare disease community, also hosting in parallel a "Round Table of Companies" meeting to initiate a rare disease joint funding strategy. Contact CRDN Events Director jo@camraredisease.org

Commercial events

6th Annual World Orphan Drug Congress
Date: 21-22 April, 2016
Venue: Barcelona, Spain

Workshops range in topic from market forecasting to pricing & reimbursement, R&D, commercialization, marketing and treatment. You can choose from 8 half day workshops or 2 full-day seminars.
For further information

The Orphan Drugs Summit
Date: 21-23 September, 2016
Venue: Amsterdam, The Netherlands

Highlights include fast changing national and regional regulations, clinical trial design, patient registries & stakeholder engagement, partnering and establishing financing for future development, establishing a balanced and sustainable pricing and reimbursement foundation, achieving an efficient and timely access to market with equal access for patients around the world.
For further information


Media, Press & Publications

OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE ( RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (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), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Disclaimer : This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)