10 October 2015 print
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RD-ACTION: the new European Rare Disease Joint Action

RD-ACTION, the new Joint Action consisting of the member states of the European Union for rare diseases, was launched on 17 September in Luxembourg, under the auspices of John Ryan, Acting Director of the Health Division and Food Security (DG Health), Jacques Remacle, Head of Health CHAFEA unit (Consumers, Health, Agriculture and Food Executive Agency) and Patrice Dosquet, representing the French Ministry of Health.

Following the two previous Joint Actions - Orphanet Joint Action and EUCERD - RD-ACTION represents renewed support of the European Commission (EC) to rare diseases, through its Directorate General for Health (DG SANTE). RD-ACTION has three main objectives:
- to contribute to the implementation, by member states, the recommendations of the EC Panel in relation to policies on these diseases,
- support the development of Orphanet and make it sustainable, and finally
- help Member States to introduce the ORPHA code in their health systems to make rare diseases visible.

With a global budget of €8,344,079, this work will last three years (until June 2018), following the logic of coherence and continuity vis-à-vis the previous actions, but aims to go further in terms of concrete implementation and consolidation policies.

This action is coordinated by Orphanet (INSERM), bringing together no less than 63 European and non-European participants. The responsibility of implementing the various actions will be carried out by Orphanet (Ana Rath), University of Newcastle (Kate Bushby, coordinator of the EUCERD Joint Action which just ended), the German Institute for Documentation and Medical Information DIMDI (Stefanie Weber), the University of Vienna (Till Voigtländer) and EURORDIS (Yann LeCam). The National Bank of Rare Diseases Data (BNDMR) represented by Rémy Choquet, will work towards the codification, notably the requirement of definition and bringing solutions to the Member States for the implementation of coding rare diseases. DIMDI and the Register of the Venetian region (Paola Facchin) will drive the implementation and testing of these solutions. EURORDIS will work towards dissemination actions along with Orphanet and Higher Health Institute (ISS, Italy). The dissemination actions include the 8th European Conference on Rare Diseases and Orphan Products, 26-28 May 2016, Edinburgh. The Directorate General of Health (DGS France, represented by Patrice Dosquet) will lead the work towards a financially sustainable European Orphanet database.

RD-ACTION was designed in the spirit of integration and coherence between the data produced by Orphanet, which provides, among others, the necessary analysis towards policy recommendations, and political action that will then guide the production, operation and dissemination of this data. Participants will ensure effective communication between the reality of each state and the EC Panel, in order to concretely support the implementation of their recommendations.
Read the European Commission press release on RD ACTION

Spotlight on...
Working for rare diseases: EUCERD Joint Action draws to a close and looks to the future
On 15 September, over 50 participants from across Europe attended the Final Conference of the EUCERD Joint Action. This event was organised to show case the achievements of the Joint Action, which ran from March 2012 to November 2015, and to analyse the current state of the art of rare disease activity across the European Union, by exploring progress and remaining challenges in key areas such as healthcare, social care and research. The even was a good opportunity to strenghten collaborations with the stakeholders present and relevant initiatives in the field, and to provided the apt moment to hand over the activities led by the Joint Action to the next Joint Action on rare diseases, RD-Action (see Editorial).

The outcomes of the EUCERD Joint Action, in particular the resources and recommendations elaborated in collaboration with the European Union Committee of Experts on Rare Diseases and EC Expert Group on Rare Diseases, were presented in the morning session. Participants heard about topics as diverse as quality of care and centres of expertise, RD European Reference Networks, social services for RD, cross-border genetic testing and the codification of rare diseases. The work lead in the context of the Joint Action in support to the EUCERD and Commission Expert Group on Rare Diseases has led to the adoption of 5 recommendations in the past three years, with two other recommendations, on genetic testing and social care under discussion currently. In terms of important resources for the community, the Joint Action also supported the elaboration of the annual report on the State of the Art of Rare Diseases Activities in Europe, a 'go-to' source of information on activities in the field of at national and European level aimed at promoting the exchange of information and monitoring the implementation of rare disease policy: this report will continue to be produced in a more dynamic format in the future RD-Action (see Editorial).

The presentations of the activities of the Joint Action were followed by three sessions dedicated to priority areas in the field of rare diseases, informing participants about the latest outcomes of a number of European projects in each area and the efforts made by the EUCERD Joint Action to explore synergies and to link this work into the discussions at the level of the EC Expert Group on Rare Diseases.

The first of these sessions was dedicated to Rare Disease Research, Therapeutics and Translation into the Sphere of Health, with presentations from the Rare Best-Practices project, Burqol-RD, a project aimed at exploring the impact of health policies, interventions and treatments in the field of rare diseases, the transnational research support mechanism E-Rare, and the International Rare Disease Research Consortium concerning the impact of IRDiRC policies at national level. The main issued discussed during this session was that of sustainability of the resources produced via these initiatives, and the importance in particular of research into health economics, as regards rare diseases, to inform the implementation of rare disease policies at national level.

The following session explored the integration of the results of a number of initiatives concerning rare disease registries, a field where the EU has invested resources through a multitude of projects (such as EPIRARE, the EUCERD Joint Action, and the PARENT Joint Action) with a view to developing an appropriate model for a European Platform for Rare Disease Registration. This platform, recently created at the EC's Joint Research Centre in Ispra, Italy, has to date taken over the responsibilities for the management of the central support of the Eurocat congenital anomalies registry, and the European Surveillance of Cerebal Palsy registry. Stakeholders in the field of rare diseases are still waiting from the JRC confirmation of the governance structure, road map and list of services to be provided by the Platform. In particular, Member States who are in the process of creating national rare disease registration systems, or who are considering this direction, are looking for confirmation of the possible support that will be provided, and the guidelines for interoperability (such as a minimum data set) which could be expected.

The final session was dedicated to national plans and strategies for rare diseases, in particular support to the implementation of national activities in this area. The EUCERD Joint Action, continuing the activities of the Europlan project (2008-2011) supported the organisation of over 20 national conferences and debrief sessions across Europe with the close collaboration of national patient alliances and organisations, to ensure the tranmission of European recommendations at national level and appropriate support to Member States in the elaboration and/or implementation of their initiatives. To date, nearly all European Member States have adopted a plan/strategy for rare diseases, with those not yet having adopted a plan in the final stages of elaboration. The next challenge will be the implementation of these plans/strategies, for which very few have a dedicated budget and for some of which need to be translated into concrete actions. The EUCERD Joint Action, through the national conferences and an analysis of these plans, has been able to extract a number of good practices that could help Member States in the implementation of their plans, which will be available shortly.

The day finished by establishing the list of possible priorities in the rare disease policy field to be explored by the Expert Group on Rare Diseases with the support of the new RD-Action for rare diseases (see Editorial). The Commission and the Coordinator of the EUCERD Joint Action, Kate Bushby, thanked the partners and the many participants in the conferences and workshops organised over the past 3 years, for their hard work and wished them success in the future work of the next Joint Action.

The report of the conference will soon be available online.


EU Policy News
Submit expressions of interest to represent civil society at the EMA
The Health and Food Safety Directorate-General of the European Commission has extended the deadline for its calls for expressions of interest to represent civil society in two scientific committees of the European Medicines Agency (EMA): the Pharmacovigilance Risk Assessment Committee (PRAC) and the Committee for Advanced Therapies (CAT). For both calls, expressions of interest should be submitted to the European Commission no later than 18 October 2015, either by email or post. Further information on the assessment criteria and the application process can be found on the Commission’s website.
Call for civil society members to join two EMA committees


National & International Policy Developments
Comprehensive policy for patients with rare diseases in Philippines
The House of Representatives in Philippines recently approved a comprehensive policy on services for patients with rare diseases that will provide them with timely and adequate access to healthcare, information, and products to treat their conditions. This will be done primarily through the establishment of a comprehensive and sustainable health system for identification, referral, and management of patients with rare diseases—integrated within the current public health system; and the inclusion of rare disease benefit package in PhilHealth.

The bill stipulates giving regulatory and fiscal incentives to support research and development activities on rare diseases and manufacturing of affordable drugs or products. Likewise, the bill provides for the design and maintenance of a rare disease registry containing data on cases, patients, drugs and products for rare diseases. Data from the registry will be used in policy formulation. The provisions in the bill are set to address the current challenges being faced by patients afflicted with rare diseases, their families and caregivers, and their healthcare providers.

This bill defines a rare disease as one that affects 1/20,000 in the Philippines. It provides a preliminary list of rare diseases and the provision of inclusion of others under the advisement of the National Institute of Health in the United States.
Read the report on this topic by National Academy of Science and Technology, Philippines

Other European news
The rare disease persons card implementation in Portugal
The Portuguese Ministry of Health Shared Services and Directorate General of Health, recently announced the implementation of the Rare Disease Person’s Card (RDPC). Coded using the ORPHA code system, this card is meant to identify the rare disease patient and display the relevant information of the condition as well as information especially required during an emergency situation. An article published in Procedia Computer Science describes the process of preparation, approval and the regulatory model of the card. According to the authors, due to nascent stage of the implementation of these cards, there is still room for the card to evolve and expand. Still, 828 cards have been requested through the family physician of the concerned patients, regarding 738 different rare diseases, half of which have been activated. The card is increasing awareness and empowerment of rare disease’s patients, pushing the project forward and improving health care.
Download the document from Direcção-Geral da Saúde
Read the open access article

Sample of the adult British population want genetic testing of children for adult-onset conditions
Almost all the guidelines published till date on genetic testing on children for adult onset conditions recommend deferring such tests unless there is a clear indication that it will prevent the future outcome of the condition. Whether the general public agrees with this recommendation is addressed in an article published in European Journal of Human Genetics.

Testing the attitudes of a representative sample of the adult-British public revealed that, contrary to the guidance documents, 47% believed that parents should be able to test their child for adult-onset conditions, even if there is no treatment or prevention at time of testing. Younger respondents of the survey and men were more likely to support this kind of testing as well as carrier testing. The authors also presented 4 arguments in support of deferring testing to the participants, out of which “a child’s future ability to decide for her/himself if and when to be tested” was generally the least supported argument in the sample. However, the authors noted that women were significantly more likely to consider all 4 arguments as valid to defer testing for adult onset conditions.
Read the Open Access article

Sample of Danish population want disclosure of incidental findings from NGS studies
Another article has studied an equally contentious issue –disclosure of incidental findings - is published in European Journal of Human Genetics. Here the authors also find that contrary to the recommendations of professional organisations, participants in next generation studies wanted disclosure of all incidental findings. The authors investigated if participants recruited from the Region of Southern Denmark want disclosure of incidental findings and which ones would they want to know more about. According to the authors most participants wanted disclosure of all incidental findings; only 3% did not want any disclosure, while 36% wanted disclosure only on actionable variants. According to the authors due to the disparity of opinion between the official recommendation and the sample studies “options for reporting IFs in research studies (could) be incorporated in the consent form.”
Consult the Pubmed abstract

Other International News
Discussion paper by the Australian government to support people with chronic and complex health conditions
To better support people with chronic and complex health conditions, the Australian Government has released a discussion paper by the Primary Health Care Advisory Group, to examine options for health reform and provide a report to the Australian Government in late 2015. The paper is designed to set out the case for change and introduce some possible options to improve primary health care for people with chronic and complex conditions. In order to engage all stakeholders, consultation will be held with the Advisory Group. Results of the survey that accompanied the discussion paper will be out shortly.
Read more on Therapeutic Goods Administration, Australia

Contradictions of public health policies geared to rare disorders in Brazil
A paper published in Portuguese presents information of the rare disease health policy in Brazil, using the example of Ostegenesis Imperfecta. The paper details the contradictions, especially with respect to therapeutic decisions and the strengthening of the specialized network for addressing this condition which are expressed in the drafting and final text of the new law.
Consult the Pubmed abstract

Sickle cell disease among children in Africa
An article published in International Journal of Africa Nursing Sciences provides an integrative review of 63 references related sickle cell disease among children in Africa, focussing on the incidence, prevalence, morbidity, and mortality; current practices and challenges related to screening, diagnosis, and treatment. From this data the authors also provide recommendations for practice, policy, and research to improve health outcomes of children with sickle cell disease in Africa.
Read the Open Access article

Guidance Documents and Recommendations
22q11.2 deletion syndrome: guidelines for the management
Consult the Pubmed abstract
To read more about "22q11.2 deletion syndrome"

Genet Med. ; 17(8):599-609 ; August 2015
Cushing syndrome: guidelines on treatment
Consult the Pubmed abstract
To read more about "Cushing syndrome"

J Clin Endocrinol Metab. ; 100(8):2807-31 ; August 2015
Congenital hypogonadotropic hypogonadism: European consensus statement on diagnosis and treatment
Consult the Pubmed abstract
To read more about "Congenital hypogonadotropic hypogonadism"

Nat Rev Endocrinol. ; 11(9):547-64 ; September 2015
Pemphigus vulgaris/foliaceus and bullous pemphigoid: guidelines for the treatment
Consult the Pubmed abstract
To read more about "Pemphigus vulgaris"
To read more about "Pemphigus foliaceus"
To read more about "Bullous pemphigoid"

J Dtsch Dermatol Ges.
Facioscapulohumeral dystrophy: guidelines on evaluation, diagnosis and management
Consult the Pubmed abstract
To read more about "Facioscapulohumeral dystrophy"

Neurology ; 85(4):357-64 ; July 2015
Bioinformatics, Registries and Data Management
How do paediatric biobanks look at various aspects of obtaining consent from the paediatric population
Guidelines such as Code of Federal Regulations and WMA Declaration of Helsinki recommend expressed consent from the paediatric population before inclusion of their health data in biobanks. This issue has brought forth many ethical concerns especially with regards to the child’s role in these procedures which is discussed in an article published in European Journal of Human Genetics. The authors of this article provide the results of an international multiple-case study which included four biobanks addressing diverse health concerns with the collection of a variety of data from the paediatric population.

They addressed “four themes linked to the child’s role in the consent procedure emerged from the multiple-case study: (1) motives to involve the child, (2) informing the child, (3) the role of dissent, assent and consent and (4) voluntariness of children to participate.” This study recognises the motives to involve consent of the child where respect for the child as an intrinsic motive to involve children while adherence to regulation was recognised by all as important. The authors also detail how personal verbal information is utilised for informing the child even though it is not mentioned in the regulation. While the authors say that assent and consent differs between biobanks, the question of how respecting dissent - is followed by the biobanks is unclear. The authors also show that although children agree to participate in biobanks to different reasons, coercion from parents may be the overarching one.

The authors believe that these “insight(s) (are) valuable when designing paediatric biobank governance.”
Read the Open Access article

Long tail economics and rare disease research: the impact of next generation sequencing for rare mendelian disorders
An article published in Genetics Research discusses how next generation sequencing (NGS) based research on rare diseases has come a long way and the effect of long tail economics on rare diseases research. Long tail statistics has been commonly used to understand the rise of internet retailers, crowdfunding, crowdsourcing etc., where a large share of the data rests within its tail unlike a normal distribution. The authors believe that the trend observed in rare disease research, especially in terms of the developments in NGS, can benefit from the two themes derived from long tailed economics - increased access and reduced cost.

In this context, increased access would mean that the researcher would be able to look through a sea of data produced thanks to whole genome and whole exome sequencing and find what they are looking for (gene, disease, phenotype) . They also detail the developments in bioinformatics that has led to the development of this enormous amount of data which in turn required better curative and sharing efforts. The authors refer reduced cost to the reduction of overhead costs by centralising resources where the curative and sharing efforts come in play. They also address the issue of reimbursement that comes with the rising cost of sequencing. According to the authors “as a long-tailed problem, continued discovery of rare diseases requires a funding infrastructure that can sustainably support the work needed to identify the great number of rare diseases”, for which they believe a good source is crowdfunding. The authors believe that “the principles derived from long-tail economics shape our understanding of the recent development of this field and offer insight towards needed improvements.”

The authors of this article belong to the Rare Genomics Institute that has recently launched 10 crowdfunding campaigns to sequence exomes of rare disease patients.
Read the PubMed abstract

Screening and Testing
Regulating laboratory developed tests in the United States: the current controversy
A perspective published by stakeholders in Genetic Testing and Molecular Biomarkers comments on the current legislation mandating the United States Food and Drug Administration as the regulatory body overseeing Laboratory Developed Tests (LDTs).

The authors explain that historically LDTs are subject to regulation by the Clinical Laboratory Improvement Amendments (CLIA) of Centers for Medicare and Medicaid Services (CMS). However, in 2015, the FDA announced the establishment of the FDA/CMS Task Force on LDT Quality Requirements to oversee changes to the LDT regulatory landscape. The FDA described a premarket review process that would require confirmation of the analytical and clinical validity of new LDTs before the lab is permitted to administer those tests. Following this announcement a debate has ensued in the context of the 21st Century Cures Act with valid arguments from supporters and detractors due to which the Congress has requested for feedback. However, the resulting whitepaper did not contain specific information directly addressing this issue. The authors express concern that stakeholders are still speculating about the trajectory of LDT regulation.
Access the review

Article reviewing the limits of FDA’s authority to regulate laboratory developed diagnostic tests
A related article published in the Food and Drug Law Journal addresses FDA’s current mandate to regulate laboratory developed diagnostic tests. The author believes that this oversight could prove to be intrusive and has the potential to slow the progress of genomic discovery, interfere with scientific inquiry and suppress investigators’ and clinicians’ rights to freedom of speech and prove to be federalist in action (U.S wants states to mandate practise of medicine). According to the author this article is written with the goal to help genomics researchers understand how FDA’s research regulations may apply to research that uses high-throughput DNA sequencing.
Read the Open Access article

Newborn screening in Australia: current environment and future perspectives
The current state of newborn bloodspot screening in Australia and the lessons it needs to learn from international programmes to upgrade its operation is explained in Frontiers in Public Health. The authors say that NBS has been operating successfully in Australia for almost 50 years but currently it does not have any coherent national policy or decision-making process that is concurrently agreed by government. The authors describe the policy environment in the United States, United Kingdom and New Zealand which could provide useful information. In Australia the establishment of the Australian Screening Advisory Committee in 2001, now known as the Standing Committee on Screening has played an important role in providing guidance on what constitutes a good screening program through the development of the Population-Based Screening Framework in 2008. However, the authors believe that Australia is operating in an environment, which lacks a considered decision-making process for government, particularly in regards to assessing conditions for screening.

The authors believe that changes to newborn screening programs should be planned instead of being reactive often in response to new technologies. The authors provide several options to overcome the funding barrier, which they describe as chief obstacle, to developing and implementing a national decision-making framework for newborn screening in Australia. They believe that a national decision-making approach, supported by state implementation of decisions, would support consistent decision making across local-level programs.
Read the Open Access article

Patenting Genetic diagnostic methods
An article published in the Journal of Law and Medicine reviewed and analysed the relevant law in Australia and the United States to assist sponsors claiming patents for “diagnostic methods associated with genome-wide association studies (GWAS), adopting methodologies using next generation sequencing (NGS) and single nucleotide polymorphism (SNP).” The authors provide reasonable solutions to commonly experienced questions while patenting these technologies: experimental reproducibility and the credibility and veracity of the technology.
Read the Open Access article


Ethical, Legal & Social Issues
Living with Marfan syndrome: the patients view
A study published in Clinical Genetics explores the psychosocial aspects of Marfan syndrome (MFS) by collecting available literature followed by synthesising and critically appraising them. The authors studied 15 articles that satisfied the eligibility criteria and found that MFS significantly impacts various areas of the patient’s life such as education, work, family and transition to adulthood. They also experienced decreased Health Related Quality of life, depression and anxiety. Interestingly, the authors also noted that the studies show there was a considerable disconnect between the discomfort that the patient experiences and how professionals view it. According to the authors the studies demonstrate that “the subjective perception of discomfort did not necessarily match the medical severity of a disease.”
Consult the Pubmed abstract


New Syndromes

Developmental delay, microcephaly and hypomyelination associated with mutations in SLC1A4
Using exome analysis, the authors identified recessive mutations in SLC1A4 in ten Ashkenazi-Jewish patients from eight families who shared similar clinical features of developmental delay, microcephaly and hypomyelination. Seizure disorder was variably present.
Consult the Pubmed abstract

J Med Genet. ; 52(8):541-7 ; August 2015
Novel oculo-skeletal syndrome with intellectual disability caused by a MAB21L2 mutation
The authors described a novel recognizable phenotype characterized by anophthalmia, a distinctive skeletal dysplasia and intellectual disability in two unrelated individuals. Radiographic anomalies include severe rhizomelic shortness of the limbs and abnormal joint formation. Exome studies showed that these characteristics are part of the phenotypic spectrum of MAB21L2 gene mutations which cause a range of structural eye malformations such as microphthalmia/anophthalmia and ocular coloboma.
Consult the Pubmed abstract

Eur J Med Genet. ; 58(8):387-91 ; August 2015
Syndromic intellectual disability with variable clinical presentation due to mutations in DDX3X
The authors presented 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with intellectual disability and various other features including hypotonia, movement disorders, behaviour problems, corpus callosum hypoplasia, and epilepsy. They also found missense variants in DDX3X in males from three families with intellectual disability suggestive of X-linked inheritance.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(2):343-52 ; August 2015
Novel 3q28 microdeletion phenotype leading to haploinsufficiency of TP63
The authors reported on a 3-year-old male with intellectual disability, characteristic facial features, polydactyly and epilepsy carrying a paternally inherited 3q28 deletion leading to haploinsufficiency of TP63. The father, carrying the same deletion, presented with cleft palate, nail dystrophy and learning difficulties.
Consult the Pubmed abstract

Eur J Med Genet. ; 58(8):400-5 ; August 2015
New type of lysosomal storage disease characterized by spastic paraplegia, neuropathy, parkinsonism and/or cognitive impairment linked to AP5Z1 mutations
The authors characterized three independent fibroblast lines derived from skin biopsies of patients harbouring nonsense mutations in AP5Z1 and presenting with spastic paraplegia accompanied by neuropathy, parkinsonism and/or cognitive impairment.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(17):4984-96 ; September 2015
Progressive myoclonus epilepsy with early ataxia caused by mutation of LMNB2
The authors studied a consanguineous Palestinian Arab family presenting an autosomal recessive progressive myoclonus epilepsy with early ataxia. A novel homozygous missense mutation was identified in LMNB2 that segregated with the progressive myoclonus epilepsy in the family.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(16):4483-90 ; August 2015
Intellectual disability, hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and palpebral fissures caused by PPP2R5D and PPP2R1A mutations
The authors reported inherited dysregulation of protein phosphatase activity as a cause of intellectual disability. De novo missense mutations in PPP2R5D and PPP2R1A were identified in 16 individuals with mild to severe intellectual disability, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures.
Consult the Pubmed abstract

J Clin Invest. ; 125(8):3051-62 ; August 2015

New Genes

Rett syndrome-like phenotype caused by a de novo deletion of PTPN4 in identical twins
Consult the Pubmed abstract
To read more about "Atypical Rett syndrome"

Eur J Hum Genet. ; 23(9):1171-5 ; September 2015
22q11.2 deletion syndrome: PRODH, ADNP2 and ZFPM2 involved in the phenotype
Consult the Pubmed abstract
To read more about "22q11.2 deletion syndrome"

Hum Mutat. ; 36(8):797-807 ; August 2015
X-linked intellectual disability due to THOC2 mutations in four families
Consult the Pubmed abstract
Am J Hum Genet. ; 97(2):302-10 ; August 2015
Lethal ciliopathies ranging from hydrolethalus to short rib-polydactyly syndrome, Majewski type and Beemer-Langer type, caused by mutations in KIAA0586
Consult the Pubmed abstract
To read more about "Hydrolethalus"
To read more about "Short rib-polydactyly syndrome, Majewski type"
To read more about "Short rib-polydactyly syndrome, Beemer-Langer type"

Am J Hum Genet. ; 97(2):311-8 ; August 2015
Coenzyme Q10 deficiency linked to an alteration in COQ2 in a patient
Consult the Pubmed abstract
To read more about "Coenzyme Q10 deficiency"

Eur J Hum Genet. ; 23(9):1254-8 ; September 2015
Severe epileptic encephalopathy and complex movement disorder due to compound heterozygous mutations in CARS2 in a child
Consult the Pubmed abstract
J Med Genet. ; 52(8):532-40 ; August 2015
Overgrowth syndrome linked to de novo mutations in PPP2R5B, PPP2R5C and PPP2R5D
Consult the Pubmed abstract
To read more about "Overgrowth syndrome"

Hum Mol Genet. ; 24(17):4775-9 ; September 2015
Non-syndromic early-onset cone rod dystrophy associated with mutations in ALMS1 in a family
Consult the Pubmed abstract
To read more about "Cone rod dystrophy"

Hum Mutat. ; 36(9):836-41 ; September 2015
Megacystis-microcolon-intestinal hypoperistalsis syndrome caused by a homozygous loss-of-function variant in MYH11
Consult the Pubmed abstract
To read more about "Megacystis-microcolon-intestinal hypoperistalsis syndrome"

Eur J Hum Genet. ; 23(9):1266-8 ; September 2015
Heterotaxia and situs inversus totalis associated with a homozygous WDR16 deletion
Consult the Pubmed abstract
To read more about "Heterotaxia"
To read more about "Situs inversus totalis"

Eur J Hum Genet. ; 23(9):1262-5 ; September 2015
Familial idiopathic steroid-resistant nephrotic syndrome caused by COL4A3 mutations
Consult the Pubmed abstract
To read more about "Familial idiopathic steroid-resistant nephrotic syndrome"

Eur J Hum Genet. ; 23(9):1192-9 ; September 2015
Small cell lung cancer: somatic mutations in TP53, TP73 and RB1
Consult the Pubmed abstract
To read more about "Small cell lung cancer"

Nature ; 524(7563):47-53 ; August 2015
Clear cell sarcoma of the kidney due to consistent in-frame internal tandem duplications of BCOR
Consult the Pubmed abstract
Nat Genet. ; 47(8):861-3 ; August 2015
Fetal akinesia deformation sequence: homozygosity mapping in two fetuses revealed MUSK as a candidate gene
Consult the Pubmed abstract
To read more about "Fetal akinesia deformation sequence"

Eur J Hum Genet. ; 23(9):1151-7 ; September 2015
Language impairment, autism spectrum disorder and intellectual disability might be associated with ELP4 deletions
Consult the Pubmed abstract
Hum Mutat. ; 36(9):842-50 ; September 2015
Keratoconus: WNT10A exonic variant increases the risk of disease
Consult the Pubmed abstract
To read more about "Keratoconus"

Hum Mol Genet. ; 24(17):5060-8 ; September 2015

Research in Action

Clinical Research
Dravet syndrome: vaccination-associated seizure onset does not affect disease course, while the risk of subsequent vaccination associated seizures seems vaccine-specific
Consult the Pubmed abstract
To read more about "Dravet syndrome"

Neurology ; 85(7):596-603 ; August 2015
Progressive familial intrahepatic cholestasis type 2: improvement of cholestasis with 4-phenylbutyrate
Consult the Pubmed abstract
To read more about "Progressive familial intrahepatic cholestasis type 2"

Hepatology ; 62(2):558-66 ; August 2015
Alpha-1-antitrypsin deficiency: purified α1 proteinase inhibitor augmentation treatment slows progression of emphysema
Consult the Pubmed abstract
To read more about "Alpha-1-antitrypsin deficiency"

Lancet ; 386(9991):360-8 ; July 2015
Recessive dystrophic epidermolysis bullosa: promising efficacy and tolerance with systemic allogeneic mesenchymal stromal cell therapy
Consult the Pubmed abstract
Consult the study on Orphanet

To read more about "Recessive dystrophic epidermolysis bullosa-generalized other"
To read more about "Severe generalized recessive dystrophic epidermolysis bullosa"

J Invest Dermatol. ; 135(9):2319-21 ; September 2015
Facioscapulohumeral dystrophy: regular aerobic training with or without post-exercise protein-carbohydrate supplementation improves fitness
Consult the Pubmed abstract
To read more about "Facioscapulohumeral dystrophy"

Neurology ; 85(5):396-403 ; August 2015
Extranodal nasal NK/T cell lymphoma: Epstein-Barr virus latent membrane protein 1 and 2a transfer as a safe and effective post-remission therapy
Consult the Pubmed abstract
To read more about "Extranodal nasal NK/T cell lymphoma"

Mol Ther. ; 23(8):1401-9 ; August 2015
Biliary tract cancer: cediranib in combination with cisplatin and gemcitabine does not improve the progression-free survival of patients
Consult the Pubmed abstract
To read more about "Carcinoma of the ampulla of Vater"
To read more about "Cholangiocarcinoma"
To read more about "Carcinoma of gallbladder and extrahepatic biliary tract"

Lancet Oncol. ; 16(8):967-78 ; August 2015
Paraganglioma in pregnancy: a case series and review of the literature
Consult the Pubmed abstract
J Clin Endocrinol Metab. ; 100(8):3202-9 ; August 2015
Salla disease: 13-year follow-up of Finnish patients
Consult the Pubmed abstract
To read more about "Salla disease"

J Neurodev Disord. ; 7(1):20 ; 2015
Therapeutic Approaches

Jervell and Lange-Nielsen syndrome: review on human induced pluripotent stem cell models
Consult the abstract
To read more about "Jervell and Lange-Nielsen syndrome"

Rare Diseases ; 1(3) :1-4 ; 2015
Huntington disease: fingolimod enhances hippocampal synaptic plasticity and memory in mice
Consult the Pubmed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 24(17):4958-70 ; September 2015
Ebola hemorrhagic fever: aerosolized vaccine protects macaques exposed to the virus
Consult the Pubmed abstract
To read more about "Ebola hemorrhagic fever"

J Clin Invest. ; 125(8):3241-55 ; August 2015
Dystrophic epidermolysis bullosa: high local concentrations of intradermal mesenchymal stromal cells restore skin integrity and facilitate wound healing in a mouse model
Consult the Pubmed abstract
To read more about "Dystrophic epidermolysis bullosa"

Mol Ther. ; 23(8):1368-79 ; August 2015
Retinitis pigmentosa: ciliary neurotrophic factor gene therapy confers lifelong neuroprotection in a mouse model
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Mol Ther. ; 23(8):1308-19 ; August 2015
Leber congenital amaurosis and retinitis pigmentosa: mitigated results with adeno-associated virus-mediated gene therapy in mouse models
Consult the Pubmed abstract
To read more about "Leber congenital amaurosis"
To read more about "Retinitis pigmentosa"

Gene Ther. ; 22(8):619-27 ; August 2015
Duchenne muscular dystrophy: galectin-1 protein therapy prevents pathology and improves muscle function in the mdx mouse model
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther. ; 23(8):1285-97 ; August 2015
Steinert myotonic dystrophy: recombinant adeno-associated viral vectors injected intravenously reduce disease pathology in muscles of mice
Consult the Pubmed abstract
To read more about "Steinert myotonic dystrophy"

Hum Mol Genet. ; 24(17):4971-83 ; September 2015
Fragile X-associated tremor/ataxia syndrome: new inducible mouse model
Consult the Pubmed abstract
To read more about "Fragile X-associated tremor/ataxia syndrome"

Hum Mol Genet. ; 24(17):4948-57 ; September 2015
Diagnostic Approaches

Walker-Warburg syndrome: chromosomal microarray analysis as a first-line diagnostic test in patients with a fetus with one or more major structural abnormalities identified
Consult the Pubmed abstract
To read more about "Walker-Warburg syndrome"

Eur J Med Genet. ; 58(8):372-5 ; August 2015
Distinct optical coherence tomography patterns clearly differentiates Susac syndrome from relapsing-remitting multiple sclerosis
Consult the Pubmed abstract
To read more about "Susac syndrome"

Neurology ; 85(7):610-8 ; August 2015
CARASIL: characteristic features and progression of abnormalities on magnetic resonance imaging
Consult the Pubmed abstract
To read more about "CARASIL"

Neurology ; 85(5):459-63 ; August 2015

Patient Management and Therapy
Cystic fibrosis: review on tiotropium bromide and tobramycin for the treatment
Consult the fisrt abstract
Consult the second abstract

To read more about "Cystic fibrosis"

Expert Opinion on Orphan Drugs. ; 3(8):957-966; 3(8):933-943 ; August 2015
Fanconi anemia: review on gene therapy
Consult the abstract
To read more about "Fanconi anemia"

Expert Opinion on Orphan Drugs. ; 3(8):899-910 ; August 2015
Lymphangioleiomyomatosis: review on new treatments
Consult the Pubmed abstract
To read more about "Lymphangioleiomyomatosis"

Lung ; 193(4):467-75 ; August 2015
Blepharospasm: review on alternatives to botulinum toxin for the management Id:
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(8):877-885 ; August 2015
Congenital hyperinsulinism: review on molecular mechanisms, therapeutic targets and management
Consult the first abstract
Consult the second abstract

To read more about "Congenital isolated hyperinsulinism"

Expert Opinion on Orphan Drugs ; 3(8):887-898 ; August 2015
Research and Reports in Endocrine Disorders ; (5):103-117 ; July 2015
Kawasaki disease: a review
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Nat Rev Rheumatol. ; 11(8):475-82 ; August 2015
Paediatric rheumatology: review on lessons from oncology to optimize treatment
Consult the Pubmed abstract
Nat Rev Rheumatol. ; 11(8):493-9 ; August 2015
Metachromatic leukodystrophy: review on hematopoietic stem cell transplantation
Consult the abstract
To read more about "Metachromatic leukodystrophy"

Expert Opinion on Orphan Drugs ; 3(8):911-919 ; August 2015
B-cell non-Hodgkin lymphoma: review on the treatment
Consult the abstract
To read more about "B-cell non-Hodgkin lymphoma"

Expert Opinion on Orphan Drugs ; 3(8):921-932 ; August 2015
Huntington disease: a review
Consult the abstract
To read more about "Huntington disease"

Rare Diseases ; Volume 3, Issue 1 ; 2015
MECP2 disorders: a review
Consult the Pubmed abstract
To read more about "Trisomy Xq28"
To read more about "Rett syndrome"

J Clin Invest. ; 125(8):2914-23 ; August 2015
Glycogen storage disease due to acid maltase deficiency: a review
Consult the abstract
To read more about "Glycogen storage disease due to acid maltase deficiency"

Rare Diseases ; Volume 3, Issue 1 ; 2015
Congenital generalized lipodystrophies: a review
Consult the Pubmed abstract
Nat Rev Endocrinol. ; 11(9):522-34 ; September 2015
Ribosomopathies: a review
Consult the abstract
Rare Diseases ; Volume 3, Issue 1 ; 2015
Duchenne muscular dystrophy: a review
Consult the abstract
To read more about "Duchenne muscular dystrophy"

Rare Diseases ; Volume 3, Issue 1 ; 2015
Familial dilated cardiomyopathy: review on diagnosis, prevalence and screening
Consult the abstract
To read more about "Familial dilated cardiomyopathy"

Expert Opinion on Orphan Drugs ; 3(8):869-876 ; August 2015
Tuberous sclerosis: review on pathophysiology
Consult the abstract
To read more about "Tuberous sclerosis"

Rare Diseases ; Volume 3, Issue 1 ; 2015
West-Nile encephalitis: a review
Consult the Pubmed abstract
To read more about "West-Nile encephalitis"

Lancet Infect Dis. ; 15(8):951-9 ; August 2015
Idiopathic interstitial pneumonias with connective tissue diseases features: a review
Consult the Pubmed abstract
Respirology ; [Epub ahead of print] ; July 2015
Primary biliary cirrhosis and primary sclerosing cholangitis: a review
Consult the Pubmed abstract
To read more about "Primary biliary cirrhosis"
To read more about "Primary sclerosing cholangitis"

Hepatology ; 62(2):635-43 ; August 2015
Eosinophilic esophagitis and gastroenteritis: a review
Consult the Pubmed abstract
To read more about "Eosinophilic esophagitis"
To read more about "Eosinophilic gastroenteritis"
To read more about "Eosinophilic colitis"

Curr Allergy Asthma Rep. ; 15(9):558 ; September 2015
T-cell large granular lymphocyte leukemia: review on pathogenesis and treatment
Consult the abstract
To read more about "T-cell large granular lymphocyte leukemia"

Expert Opinion on Orphan Drugs ; 3(8):859-867 ; August 2015
One new and nine 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. One new GeneReviews has been published for:
Lysosomal acid lipase deficiency
Nine updated GeneReviews have been published for:
Cartilage-hair hypoplasia – anauxetic dysplasia spectrum disorders
Andersen-Tawil syndrome
EZH2-related overgrowth
Hereditary leiomyomatosis and renal cell cancer
Myotonia congenita
TP63-related disorders
Von Hippel-Lindau syndrome
Mucolipidosis IV
OTOF-related deafness


Orphan Drugs
Analysing the ability of fulfilling the obligations of conditionally approved drugs in Europe
Since the introduction of conditional marketing authorisation by the European Medicines Agency in 2004, patients have gained access to drugs which fulfil an urgent and unmet need. A paper published in European Journal of Internal Medicine examines whether the conditionally approved drugs manage to obtain comprehensive evidence confirming that the risk-benefit balance is positive to obtain full marketing authorisation and the time taken to reach it.

The authors identified 24 products conditionally authorised for sale, between the years 2006-2015, out of which 9 were orphan drugs and 3 had orphan status. Till date 10 medicinal products have been switched to regular approval while 14 of them are still under conditional approval.

The authors demonstrate that the median time for the ten conditional approvals to finish their specific obligations and switch to regular marketing authorisations was five years, noting delays, discrepancies and lack of information on some of these drugs.

Overall, the median time allowed to address the specific obligations is four years. The median time to fulfil obligations for drugs still conditional is nearly twice that of those converted. Of the 14 medicinal products still under conditional approval, nine have specific obligations whose timeframes go beyond 2015 but some of these did not have up-to-date information on the trials that need to conducted to address the obligations. Out of the drugs that have to fulfil their obligations this year, almost all of them have delays and discrepancies.

From the data gathered the authors caution that the conditionally approved drugs without fully established clinical value are in the market for long periods and question whether the public health advantage outweigh the risks of limited clinical information.
Consult the Pubmed abstract

Wanted: new models of pricing and reimbursement for gene therapies
The debate on pricing and reimbursement is currently rife, especially in the area of rare diseases. Gene therapy and its pricing add another layer of complexity as discussed in an article published in Nature Biotechnology (discussed in OrphaNews) on Glybera – a gene therapy with a whopping €1.1 million price tag for a one-time treatment. In the same journal, how the ‘payers,’ either public or private, are concerned with both the price levels routinely mentioned for gene therapies and the pricing and reimbursement (P&R) approaches is discussed in a Letter to the Editor.

The authors contacted payers in the United States and Western Europe to identify their top two choices for payment. They report that in the absence of health system constraints, payers prefer annuities as it reduces initial financial strain, leadS to predictable yearly budget impact and reflect the ongoing value of gene therapy. However, the authors point out that in the real world, approaches based on a lump sum payment represent the large majority. According to the authors payers might accept high price tags for gene therapies if industry develops sound and rational pricing & reimbursement approaches based on payer perceived value. The survey demonstrated that payers preferred that gene-therapy reimbursements should model organ transplants procedures (a one-time procedure) rather than protein-replacement therapy (requires frequent dosage).

The article suggests a new era in pharmaceutical economics where ‘cost-effectiveness’ may not necessarily be equated with ‘affordability’.
Access the Letter to the Editor

Regulatory News
FDA approves new orphan drug to treat 20 patients worldwide

The U.S. Food and Drug Administration (FDA) approved Xuriden (uridine triacetate), the first FDA approved treatment for patients with hereditary orotic aciduria. Hereditary orotic aciduria is a rare metabolic disorder, which has been reported in approximately 20 patients worldwide.

Hereditary orotic aciduria is inherited from a recessive gene. The disease is due to a defective or deficient enzyme, which results in the body being unable to normally synthesise uridine. Signs and symptoms of the disease include blood abnormalities, urinary tract obstruction, failure to thrive, and developmental delays. The approval of this drug was based on the results from a 4‑patient 6‑week clinical trial with a 6‑month extension phase. Wellstat - the sponsor of this drug has not yet disclosed the price of this ultra orphan drug
Read the FDA press release

New treatment option for patients with multiple myeloma
The European Medicines Agency (EMA) has recommended granting a marketing authorisation for Kyprolis (carfilzomib) to treat patients with multiple myeloma whose disease has relapsed (i.e. the cancer has come back after receiving at least one prior course of therapy). Kyprolis is for use in combination with the cancer medicines lenalidomide and dexamethasone. Multiple myeloma is a rare and life-threatening cancer of a type of white blood cell, called plasma cells, which originate in the bone marrow. Carfilzomib is the first irreversible, highly-selective, proteasome inhibitor for multiple myeloma. The irreversible binding to the targeted proteasome leads to a more sustained inhibition with minimal inhibition of other non-targeted enzymes.
Read the EMA press release



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

Neuronal Ceroid Lipofuscinosis Research Award
For the sixth time the Foundation announces and donates the NCL Research Award. They invite medical and basic science researchers worldwide to submit innovative project proposals that are either clinically oriented or cover translational aspects of CLN3 biology which can contribute to finding a cure for juvenile NCL. We particularly encourage also submissions from scientists working in related biomedical areas such as other lysosomal storage diseases, endolysosomal cell biology and neurodegenerative disorders. Together with the existing NCL research community our goal is to move promising therapeutic avenues forward to help JNCL patients. The grant (50,000 euros) serves as seed money supporting a one year postdoctoral fellowship to help young scientists progressing CLN3 research in academia or industry. Deadline: October 31, 2015
For further information

BMBF Funding initiative: innovative stem cell technologies for personalized medicine
The German Federal Ministry for Education and Research (BMBF) has announced a new funding initiative for the development and use of innovative stem cell technologies. The initiative aims at funding interdisciplinary research collaborations which are geared towards unlocking the full potential of novel reprogramming technologies and iPS cells for practical use. For this, a pooling of expertise from applied basic and clinical research is needed, for example of research groups from the life sciences, medicine, pharmacology and relevant technical disciplines. The funding can be applied for in two modules: "therapy" and "model & test systems". Deadline for applications is 30 November 2015.
More information (in German)

8th Call for SMA research proposals
This Call is open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or elucidating the basic pathophysiological processes of the disease. SMA‐Europe aims to help the international scientific and medical community in its search for therapies for SMA. Preferences will be given to projects with the greatest potential to overcome barriers to translate science into effective treatments.
Two types of research grants will be awarded for up to two years:
1. Operating Grants
2. Postdoctoral Fellowship
Application deadline: 9 December 2015
For further information


Partnersearch, Job Opportunities
ECRIN ERIC job vacancies
ECRIN‐Eric is currently in the process of recruiting for its office based in Paris (France) a Capacity Project Manager, an Operations Project Manager and a Secretary. This is a unique opportunity for a motivated individual who wishes to further develop his/her career in biomedical research and his/her experience of multinational research projects. The ECRIN Capacity Project Manager will be in charge of the project management for the structuring projects with ECRIN involvement.
For further information

Civil Society representatives: Call for expression of interest is open for the EMA Management Board
The Commission is launching a selection procedure to appoint the Civil Society representatives in the Management Board of the European Medicines Agency (EMA), in London. Four members from Civil Society will be appointed: two members representing patients’ organisations, one member representing doctors’ organisations and one member representing veterinarians’ organisations. The term of office of the current members expires on 20 March 2016.
For further information


Courses & Educational Initiatives

The 2nd Biennial Australian Rare Lung Disease Short Course
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA). For further information or to register please visit: www.lungfoundation.com.au

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@rrd-foundation.org/www.rrd-foundation.org.
Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September

EMA workshop on demonstrating significant benefit of orphan medicines
Date: 7 December, 2015
Venue: London, United Kingdom

The European Medicines Agency (EMA) is organising a workshop on 7 December 2015 to discuss the approach that should be followed by medicine developers to demonstrate the significant benefit of an orphan medicine over existing treatments. Demonstrating a significant benefit is one of the criteria medicines that treat rare diseases must fulfil to benefit from 10 years of market exclusivity once they have been authorised.

The workshop will bring together medicine developers, regulators, healthcare professionals, academia, patients, health technology assessment bodies and healthcare payers who need to register by 31 October 2015 if they wish to participate. The workshop will also be broadcast live.
For further information

European Cytogenetesists Association
Date: February/March of each year
Venue: Nimes, France

This course 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. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

EMA workshop on pre-licencing activities
Date: 9 March, 2016
Venue: Barcelona, Spain

In collaboration with EMA, E-Rare will organize a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 16:00 on the 9 of March 2015 in Barcelona, before the official start of the RE(ACT) meeting. It will be open to all researchers and interested stakeholders.

The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer@agencerecherche.fr for further instructions.


What's on Where?

CLIMB Newborn Screening Conference
Date: 10 October, 2015
Venue: Birmingham, UK

The CLIMB Newborn Screening Conference will be exploring four new conditions on the newborn screening programme, as well as current metabolic conditions. Midwives will have the opportunity to find out more about conditions that affect infants, including MCADD, PKU, Maple Syrup Disease and Glutaric Aciduria Type 1.
For further information

Xth Annual ICORD Meeting, part of the Global Rare Diseases Week, Mexico
Date: 15-16 October (ICORD), 12-16 October (Global Rare Disease Week, Mexico)
Venue: Mexico City, Mexico

ICORD 2015 will be held in México FD (México) 15-16 October in association with FEMEXER (the Mexican Federation of Rare Diseases) and GEISER Foundation (the Group of Linkage, Research and Support for Rare Diseases in Latin America). The event is part of the “Global Rare Diseases Week, Mexico 2015″ and back to back with the 4th Latin American meeting of Rare Diseases on October 12 and the Discoveries and Innovations in Orphan Drugs Congress, October 13-14.
For further information

6th South Eastern European Cystic Fibrosis Conference
Date: 19-20 October, 2015
Venue: Bucharest, Romania

This regional conference is a 2‐day symposium in Romania, addressing physicians, allied health professionals and patient representatives from the South Eastern European and Mediterranean region.
For further information

NORD Summit
Date: 21-22 October, 2015
Venue: Virginia, United States

The 2015 Breakthrough Summit is concentrated with innovative content and convenes the top leaders from the FDA, NIH, Industry, Patient Groups, Payers and Research Institutions to address the progress of rare disease diagnosis, genomics, drug development, patient engagement, patient-centered research models, product approva ls, FDA oversight and market access to orphan products.
For further information

13th Annual Congress Of International Drug Discovery Science & Technology, Therapy And Expo‐2015
Date: 20-22 October, 2015
Venue: Beijing, China

This conference will provide a unique opportunity for researchers from all over the world to meet, network, and forge new scientific interactions.
For further information

The BioData World Congress 2015
Date: 21-22 October, 2015
Venue: Cambridge, United Kingdom

This conference is held with the support of Intel, The Wellcome Trust Sanger Institute, The European Bioinformatics Institute, The Babraham Institute, BIA, BioNow, The Pharmacogenetics and Stratified Medicine Network and the Pistoia Alliance, BioData World Congress.
For further information

6th World Congress on Targeting Mitochondria
Date: 21-22 October, 2015
Venue: Berlin, Germany

This 6th World Congress on Targeting Mitochondria will cover a variety of new strategies and innovations as well as clinical applications in Mitochondrial Medicine.
For further information

The AANEM Annual Meeting
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
For further information

4th European Congress on Rett Syndrome
Date: 30 October – 1 November, 2015
Venue: Rome, Italy

For further information

First European Congress on Hereditary ATTR amyloidosis ECATTR
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
For further information

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

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

Sixth Croatian Congress of Human Genetics
Date: 5-7 November, 2015
Venue: Zagreb, Croatia

This conference will be an opportunity for education of the young interested in new achievements in various areas of genetics – clinical genetics, cytogenetics, molecular genetics and anthropology, and also to highlight the importance of prevention, diagnostics and treatment of rare diseases.
For further information

16th International Conference on Human Genome Variation and Complex Genome Analysis
Date: 11-13 November, 2015
Venue: California, United States

HGV2015 will bring together approximately 180 delegates (selected on the basis of their abstract submission) in a workshop-style atmosphere, with 25 internationally recognized speakers.
For further information

Statistical analysis of massive genomic data
Date: 19-20 November, 2015
Venue: Evry, France

This two-day cross-disciplinary conference will bring together biologists, geneticists, clinicians, bioinformaticians and statisticians in order to discuss emerging challenges raised by the analysis of high-throughput genomic data, and present dedicated innovative approaches.
For further information

The Rett Syndrome Journey: Pathways to Follow
Date: 19-21 November, 2015
Venue: Victoria, Australia

‘Pathways to Follow’ on the journey with Rett syndrome will be explored in such areas as communication, health, therapies, education, equipment, caring for the carer, Commonwealth government, trusts, siblings, adulthood, family and equipment, to name just a few.
For further information

6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals
Date: 21-22 November, 2015
Venue: Amsterdam, The Netherlands

The 6th European Symposium on Rare Anaemias is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias. This year, transversal topics centered on common medical problems of patients with sickle cell, thalassaemia and other forms of haemolytic anaemia will be one of the key points of the symposium.
For further information

International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

Clinical trials in small populations : Methodological challenges and solutions
Date: 30th November - 1 December 2015
Venue: London, UK

The movement towards genetically tailored treatment regimens will further increase the number of small populations for whom new treatments are sought. This two day meeting will bring together researchers and practitioners to discuss state of the art methods for trials in small populations.
For further information

CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference
Date: 20-21 January, 2016
Venue: Brussels, Belgium

This is the fourth meeting of an ongoing series of biennial conferences aiming at promoting progress in the field of paediatric oncology drug development through input from all concerned stakeholders: regulatory bodies, academia, the pharmaceutical industry, parents and policymakers.
For further information

BPSU Rare Disease Conference 2016
Date: 23 February, 2016
Venue: Birmingham, United Kingdom

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.
For further information

Clinical Innovation & Outsourcing
Date: 9-10 March, 2016
Venue: London, UK

Clinical Outsourcing & Partnering World is the largest industry event focusing on the strategic and operational considerations in clinical outsourcing. It is a place where serious business contacts are made. Attended by senior decision makers, it's a platform which facilitates meetings between your sales force and prospects and it's a cost effective sponsorship package with year round advantage.
For further information

The RE(ACT) Congress
Date: 9-10 March, 2016
Venue: Barcelona, Spain

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2016
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
For further information

13th International Congress of Human Genetics (ICHG) 2016
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities. Registrations open in 2015.
For further information

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

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

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

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

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


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
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), 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), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Disclaimer : This presentation is part of the project / joint action N° 677024 / RD-ACTION' which has received funding from the European Union's Health Programme (2014-2020).

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