30 December 2014 print
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Editorial
 
The second IRDiRC conference held in Schenzen, China: another successful and enlightening event
 

Last month, the much awaited 2nd International Rare Diseases Research Consortium (IRDiRC) conference took place in Shenzhen, China. Held on 7-9 November 2014, this conference was organised by IRDiRC in partnership with BGI to bring together rare disease stakeholders from all over the world to discuss and share experiences and expertise. This international conference was attended by more than 600 participants representing Europe, North America, Australia and Asia.
Encouraged by the success of the 1st IRDiRC conference, held in Dublin, Ireland in 2013, the main theme of this conference was also collaboration, placing emphasis on contributing towards expertise, information and technology via global networks to improve diagnosis of rare diseases, patient access to best treatment and care, and patient and family support. This year, along with the three tracks that mirror the scientific committees of IRDiRC - Diagnostics, Interdisciplinary, Therapies – a track focusing on education and training to better understand and provide top quality care for rare disease patients was also added.
This meeting boasted of attendance from policy makers, industry leaders, academicians as well as patient organisations from around the world. Representatives from regulatory bodies shared their expertise and pushed the need for more regulatory success for orphan drugs. Patient organisations gave an overview of the current need of patients and how coming together with a common agenda is urgent, but also achievable. Industry partners emphatically expressed the need to work with academicians, patient organisations and regulatory bodies to significantly increase the number and quality of drugs that is accessible to all. The attendees also heard from rare disease patients in China (in the picture below), which was not only inspirational but also a testament to the work of IRDiRC being fundamental to advance the cause of rare disease research in order to find more and better treatments for these patients.
Rare disease patients in China represented at the conference
IRDIRC promises to contribute to the development of 200 therapies for rare disease and means to diagnose all of them by 2020, which can only be possible through the collaborative efforts of academics, researchers, clinicians, industry leaders, policy makers and patient advocates, internationally. BGI is the world’s largest genomics centre that provides comprehensive high-throughput genomics platform and in-depth bioinformatics services for medical, agricultural and environmental applications. This conference held with the support of BGI China has cemented the partnerships between rare disease stakeholders from the West and the East and opened up immense collaborative possibilities for the future.

Selected presentation and photos from the conference with further information are available on the IRDiRC website.
Access selected presentations from the conference on the IRDiRC website
Go to the BGI website
 


 
Spotlight on...
 
Rethinking drug development for rare diseases: a combinatorial approach to treat Charcot-Marie Tooth disease
 
A preclinical and a clinical study published in the Orphanet Journal of Rare Diseases have introduced a crucial development in the field of drug development for rare diseases. Here the researchers tested PXT3003, a combination of three already approved compounds - baclofen, naltrexone and sorbitol – for its potential to treat Charcot-Marie-Tooth type 1A disease (CMT1A). CMT1A is a debilitating rare genetic condition that leads to loss of nerve fibers, muscle wasting and weakness, and causes slowly progressive sensory defects and loss of fine motor skills, due to the overexpression of the myelinating gene PMP22. The objective of the proposed treatment is that instead of just one drug, multiple drugs can tackle the symptoms of this disease by down-regulating (reduce) PMP22. This blend was first tested in a rat-model of CMT1A, which showed that the combination of these 3 drugs synergistically down-regulated PMP22, confirming its efficacy.

Due to the success of the pre-clinical study, PXT3003 was tested in CMT1A patients. The clinical trial confirmed its safety and tolerance, and demonstrated that patients receiving the highest dose of PXT3003 showed the least deterioration. Not only did this treatment stop the further deterioration of clinical symptoms in these patients, they also displayed some improvements, which is a desirable feature of any treatment approach. While the results published in the clinical study are exploratory in nature, the researchers are geared for the next phases of clinical trials due to the promising outcome.

This kind of combinatorial approach to treat diseases is often used in clinical practice by doctors but this is the first time, instead of finding that one drug that will affect a molecular mechanism in a major way, individual drugs selected for their potential to act on specific elements of a biological pathway are used together for a pleiotropic method of action. The encouraging result of this treatment route has piqued the interest of many in the rare disease community. A blogspot written by Dr. Ségolène Aymé has articulated this enthusiasm where she said, “there are plenty of rare diseases that could benefit from this approach”.
Read the open access preclinical study
Read the open access clinical study
Read the blogspot by Dr. Ségolène Aymé

 


 
EU Policy News
 
EMA
 

 
EMA releases practical guidance on access-to-documents requests
 
Subsequent to releasing the access to documents policy in 2010, the EMA has published a practical guide to request unpublished documents. This guide provides detailed information on all steps involved, which requires liaising with an EMA coordinator to get a deeper understanding of the request.
Access the practical guide
Access to documents requests should be sent to the Agency using the online form

 
The EMA agency review of ataluran, a conditionally approved treatment for DMD
 
A paper published in Neuromuscular Disorders summarises the scientific review of the application leading to a conditional approval of Translarna (ataluren) for the treatment of Duchenne muscular dystrophy (DMD) in the EU, which is subject to the completion of an ongoing confirmatory study. Ataluren enables the ribosomal read-through of premature stop codons, resulting in the synthesis of a full-length functional dystrophin protein. According to the assessment performed by the EMA, the efficacy data presented by the sponsor, lacked robustness, but the “beneficial effects of ataluren were considered plausible and clinically relevant for this rare disease with a high unmet medical need”. The EMA also found that since the observed safety profile of ataluren was comparable to that of placebo, ataluran was considered a good candidate for the conditional authorisation in the EU, so that it could benefit the patients who have limited treatment options.
Access the article through ScienceDirect

 


 
National & International Policy Developments
 
Policy for payments to carers in New Zealand revisited
 
The Ministry of Health in New Zealand introduced a policy called Funded Family Care in 2013, where NZD 23 million was earmarked for individuals who are the primary caregivers to disabled family members. However, this policy was widely criticised for its restrictive rules, lack of flexibility and complicated criteria to receive this help from the government. To qualify for the funding for family members, the patients had to be severely disabled but also fulfil requirements that would be outside of the capabilities of the severely disabled. Some specific examples of these contradictions included that the disabled individuals would have to “explicitly confirm” their preference for a family member to care for them, which may not be possible for the severely disabled, especially ones with communication problems. Analysis performed after 6 months of implementation showed that barely 100 of 1,600 intended care situations had been approved for funding. Thus the Ministry of Health is now re-examining this policy, vowing to make changes to reflect the needs of the disabled.
Read more on the Funded Family Care policy

 
OPEN Act: legislation introduced in the US congress to encourage research in drug repurposing for rare diseases
 
The Orphan Product Extensions Now Accelerating Cures and Treatments Act (OPEN ACT) of 2014, has been introduced to the United States congress to encourage pharmaceutical companies and organisations to ‘repurpose’ drugs already in the market by adding a rare indication. According to this bill companies can benefit from an additional six months of market exclusivity for adding a rare disease indication to the label of a currently approved drug. The focus will be on drugs with market exclusivity and not generic drugs as there is little or no incentive to conduct the additional clinical trials required by the FDA. Modeled on the incentive programs in the Best Pharmaceuticals for Children Act (BPCA), the OPEN Act would make available to drug companies an "Orphan Product Exclusivity Extension," so long as the sponsor company establishes that the therapy is designated to treat a rare disease and obtains a rare disease indication from the FDA on the drug label.
For further information

 
Italy has approved the new National Plan for Rare Diseases 2013-2016
 

The State-Regions Conference, chaired by the Undersecretary of Health Vito De Filippo, along with the Minister Beatrice Lorenzin, has approved the National Plan for Rare Diseases 2013-2016. Along with a three-year validity, this plan provides schemes for proper intervention and care for rare disease patients. It also provides an approach for uniformity of care throughout the country as well as funding assistance. The plan also addresses the appropriateness of health interventions of some diseases that, in the past, was wrought with problems such late diagnosis and an uncertain process of care.

The plan elaborates on the manner in which Italy will tackle care, research and prevention of rare diseases. In terms of care, the plan provides an update of the basic levels of care required for rare disease patients, including strengthening the continuity of action between hospital and territory to ensure treatment is provided to the patient closer to home. The plan aims to furnish health-care providers with a training system which will be valid throughout the nation as well as initiatives for accreditation and certification of genetic laboratories dealing with diagnosis at the regional level and overall strengthening of interventions and tools for early diagnosis. The plan also details the research goals that need to be reached in order to allow for participation in international consortia for groups of diseases. Finally, in terms of prevention, the focus of the plan was on screening, pre-conception and prenatal counselling and promotion of healthy lifestyles.
Consult the National Plan for Rare Diseases

 
Other European news
 
Characteristics of patients with urea cycle disorders in Spain
 
Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. An article published in the Orphanet Journal of Rare Diseases has described the characteristics of patients with UCDs in Spain, which helps in the analysis of the frequency, natural history and clinical practices in the area of rare diseases. According to the authors, this additional knowledge is extremely important to understand the needs of the patients and plan their care.
Read the open access article

 
Budget impact of orphan drugs expenditure in the Netherlands from 2006-2012
 
An article published in Orphanet Journal of Rare Diseases examined the number of orphan drugs, the number of patients and budget impact of orphan drugs in the Netherlands in the period 2006 to 2012, both for inpatient and outpatient orphan drugs. The study showed that the number of orphan drugs and patients treated increased substantially over the period studied, so did the budget impact. According the authors, in 2012, 17% of available drugs had an individual budget impact of more than €10 million per year. The authors believe that the budget impact of orphan drugs is considerable and has grown substantially over the years which could potentially influence reimbursement decisions for orphan drugs in the future.
Read the open access article

 
Other International News
 
Following the example of the WHO and the EMA, HHS and NIH take steps to modify clinical trial rules to improve transparency
 
The United States, Department of Health and Human Services (HHS) has issued a Notice of Proposed Rulemaking (NPRM) which will require the expansion of the scope of requirements for registering clinical trials that are subject to Title VIII of the Food and Drug Administration Act of 2007 (FDAA), and the submission of summary trial results to ClinicalTrials.gov, a publicly accessible database operated by the National Library of Medicine, part of the National Institutes of Health (NIH).

ClinicalTrials.gov contains the results of more than 179,000 clinical trials but around half of all clinical trials for treatments in the US have never published results and thousands have never been registered. Moreover, HHS has noted that less than 15,000 trials have included summaries of results on the ClinicalTrials.gov website. Previous efforts of the US regulatory agencies to make trial result reporting mandatory have been met with resistance and drug companies and academic researchers have found many loopholes by which they can circumvent these laws and withhold data.

An article published in Nature reported that while FDAA requires all clinical trials results on the Clinicaltrials.gov should be reported, this requirement is seldom followed. Moreover, the article highlights that the unwillingness to report the clinical trial results of approved drugs carries a fine of USD 10,000 per day, but has never been enforced (Access the article).

The NIH and HHS decision to issue the NPRM comes after the outcry to close these loopholes and make the clinical trial process more transparent. Non-profit associations such as All-trials have been campaigning for the release of all clinical trials documents as they reckon that not releasing these results can be detrimental to all as “information on what was done and what was found in these trials could be lost forever to doctors and researchers, leading to bad treatment decisions, missed opportunities for good medicine, and trials being repeated”.

In addition to assembling a more streamlined approach, the proposed rule expands the requirement of reporting summary of results to unapproved products, clarifies the responsible parties for posting data and the timing for providing the information, along with essential updates as well as deadline extension conditions. These proposed rules, developed by the National Institute of Health (NIH) in consultation with the FDA, are considered by many stakeholders to be a grand measure to tighten regulations, close loopholes and make the clinical trial process more transparent (Read the summary of the proposed rules).

This endeavour by regulatory agencies in the US is preceded by the efforts being made by the World Health Organisation (WHO) and by the European Medicines Agency (EMA). The WHO has opened up public consultations to ensure that all trials are registered in the International Clinical Trials Registry Platform after concerns on the selective publication of trial results were raised (Access ICRTP). Furthermore, the EMA has adopted a momentous policy requiring the publication of all clinical trial results that have been granted market authorisation in the European Union (EU). Not only will the public be able to assess how the EMA makes it decision, academics and researchers will be able to analyse the trial results, which they have been unable to do so far (Read the EMA policy). The decision to release the clinical trial data by the EMA is a preamble to the new EU Clinical Trials Regulation which will come into effect in 2016.

Even though this is a huge step forward, some critics argue that the EMA does not go far enough with their policy as pharmacovigilance data is not part of the disclosure policy and sponsors have been given the option of redacting information that is part of their trade secrets. An opinion piece published in The Lancet has pointed out that “misinterpretation of what is meant by commercially confidential could make it possible to conceal key information, for instance, negative results from a clinical trial or safety alerts that could, if published, possibly tarnish the image of a product, and therefore the owner’s economic interests” (Access the article).

Read the HHS and NIH press release on the NPRM
Read the summary of the proposed rules
Access the article “Clinical-trial rules to improve access to results” published in Nature
Read the AllTrials press release on this topic
Sign the petition on AllTrials website
Read WHO - ICRTP request for public consultations
Read the EMA policy on Publication of Clinical Trial results
Access the article “EMA’s transparency seems to be opaque” published in The Lancet Write in support of the HHS proposal to expand the scope of the FDAAA here.
Email clinicaltrials.disseminationpolicy@mail.nih.gov to support the NIH proposal to make registration and reporting a condition of funding.

 
A call for action to improve access to care and treatment for patients with rare diseases in the Asia-Pacific region
 
In the letter to the editor, published in the Orphanet Journal of Rare Diseases a compelling argument is made for action from rare disease stakeholders in the Asia-Pacific region. The authors appeal stakeholders to follow the example of counterparts in the west to advance access to care and treatment for patients with rare diseases. According to the authors, most countries in the Asian-Pacific region do not have laws that explicitly protect the interests of rare disease patients. They believe that developing a legislative framework that confers enforceable protection similar to the Orphan Drug Act of the United States (US) would greatly help in the development of innovative treatments. The authors believe that a cross-sector panel mandate such as the European Union Committee of Experts on Rare Diseases (EUCERD) can help with organising and bringing forth initiatives that are advantageous for rare disease patients. The authors recommend “creating or strengthening policies by objectively measuring the impact brought about by rare diseases and establishing platforms to reach out to the rare disease community”, such as EURORDIS and NORD. They also emphasise the importance of creating collaborative networks across sectors and countries in the region by highlighting the success of South Korea’s Rare Disease Knowledge Base which is an example of inter-agency collaboration in the Asia-Pacific region. The authors believe platforms such as the Global Rare Disease Registry Data Repository which provide data elements and open-source patient registry templates should be taken advantage of and urge for a push towards research by being part of consortiums such as the International Rare Disease Consortium (IRDiRC). The authors emphasise that out of the 36 IRDiRC member organisations, only four are from the Asia-Pacific region, which according to the authors is a missed opportunity.
Read the open access article

 
ClinRegs: an online database of clinical research regulatory information
 
Sponsored by the National Institute of Allergy and Infectious Diseases (NIAID), ClinRegs provides is an online database of country-specific regulations on Competent Authority Oversight, Ethics Committee Oversight, Clinical Trial Lifecycle, Sponsorship, Informed Consent, Investigational Products, Specimens. Currently in BETA mode, ClinRegs is intended to serve as a central resource and time-saver for individuals and organisations involved in planning and implementing international clinical research. The homepage shows a map feature, with clickable information on each country as well as a comparison search tool to view abridged versions of the requirements of two countries side-by-side. The information available on this site is kept up-to-date by regular review and curation by regulatory researchers, with input from the clinical research community. ClinRegs is currently requesting feedback on the site’s content and functionality and will include additional topics to the map feature in response to user feedback.
For further information

 
The Canadian Rare Diseases Models and Mechanisms network bestowed with CAD 2.3 million
 
The Canadian Institutes of Health Research (CIHR), in partnership with Genome Canada has awarded CAD 2.3 million to the Canadian Rare Diseases Models and Mechanisms (RDMM) Network to investigate molecular mechanisms of rare diseases.

Led by Drs. Phil Hieter, Kym Boycott and Janet Rossant, the RDMM network aims to investigate biological mechanisms underlying rare diseases at the genetic level in model organisms such as yeast, worms, flies, fish, mice to gain insights on rare disease mechanisms. The RDMM Network comprises of basic science researchers studying gene function in model systems and clinician scientists discovering novel disease genes in Canada.

The importance of using model organisms to understand the molecular mechanisms underlying rare disorders that may lead to treatment paradigms for these diseases has been explained in detail in an article published in Genetics by Drs. Phil Hieter and Kym Boycott. They highlight that from exhaustive studies of the genome it is known that the yeast, worm, fly, mouse, and human genomes are strikingly similar. Model organisms can advance our knowledge towards elucidating molecular mechanisms of treatment options in some cases. These organisms can also act as phenologs, where they may not represent the human phenotypes entirely, but may represent a molecular or cellular profile in which the human disease can be studied. The article notes that model organisms such as yeast, worms and flies provide an approach by which experimental approaches can be studied, while mouse models will be important for functional validation in a mammalian context. Understanding the genetic function and mechanisms of disease, according to the authors, will be the “grand challenge”. Success in this endeavour will require large-scale collaborations and believe that the International Rare Disease Research Consortium (IRDiRC; www.irdirc.org), especially IRDiRC’s Model Organism Working Group, is one such avenue.

The RDMM Network which funds 24 catalyst projects annually will be another such platform through which basic research on rare diseases will be able to flourish. It will work towards understanding genes, pathways and networks by analysing the equivalent (orthologous) genes in the five model organisms. According to RDMM their goals are to “validate genetic variants that cause disease, advance understanding of disease mechanisms, create the rationale for treatment (e.g., identification of candidate drug targets) and establish longer-term collaborations between scientists and clinicians that will lead to subsequent funding of outstanding laboratory and/or applied research”.
For further information
Read the PubMed abstract

 
Australia approves subsidy for two more orphan drugs, while patients in New Zealand are still waiting
 
The Australian government has recently approved the listing of Kalydeco for Cystic Fibrosis, and Soliris for Atypical Hemolytic-Uremic Syndrome (aHUS), on the Australian Pharmaceutical Benefits Scheme from 1 December 2014. Kalydeco treats patients with a specific gene mutation and is the first medicine to treat the underlying cause of Cystic Fibrosis. Soliris is already funded in Australia for the rare disease PNH and the new listing extends its use to aHUS. It is estimated that the listing decisions will provide access to approximately 250 Australians who would otherwise face prohibitive costs and effectively be denied access to these important treatments. Meanwhile in New Zealand, the patients continue to lobby Pharmac –the reimbursement decision making body –to fund these drugs. Recently NZD 5 million has been earmarked towards the rare disease funds but critics believe that this does not cover the expenses for patients suffering from debilitating conditions.

 
Report on the 2013 International Neurofibromatosis Conference
 
Neurofibromatosis (NF) is a group of inherited genetic disorders–NF1, NF2, and schwannomatosis where individuals are predisposed to develop Schwann cell tumors such as neurofibromas and schwannomas, other benign and malignant tumor types, as well as some developmental abnormalities including learning disabilities. The 2013 Neurofibromatosis Conference took place in California, US, from 8-11, 2013. Sponsored by the Children’s Tumor Foundation, this international meeting brought together NF researchers and clinicians to discuss a range of preclinical topics with a focus on signaling pathways and mouse models and a number of clinical topics, including a symposium on the interaction of academics, government, and industry in NF clinical trials. The conference report has now been publisehd and is openly accessible in the American Journal of Medical Genetics.
Read the PubMed abstract

 
Guidance Documents and Recommendations
 
Glycogen storage disease due to glucose-6-phosphatase deficiency: guidelines from the American College of Medical Genetics and Genomics on diagnosis and management
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to glucose-6-phosphatase deficiency"

 
Genet Med. ; [Epub ahead of print] ; November 2014
 
Acromegaly: an Endocrine Society clinical practice guideline
 
Consult the Pubmed abstract
 
To read more about "Acromegaly"

 
J Clin Endocrinol Metab. ; 99(11):3933-51 ; November 2014
 
Pediatrics special supplement of the Journal of Neurosurgery on hydrocephalus
 
Consult the Supplement
 
Journal of Neurosurgery. ; 14(Issue Suppl):1-81 ; November 2014
 
Aortic diseases: 2014 European Society of Cardiology guidelines on the diagnosis and treatment
 
Consult the Pubmed abstract
 
Eur Heart J. ; 35(41):2873-926 ; November 2014
 
Bioinformatics, Registries and Data Management
 
Clinic-developed software to support NIH/NCATS global rare diseases registry
 
A computer software program developed at Marshfield Clinic Research Foundation (MCRF) soon will support the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) Global Rare Diseases Patient Registry Data Repository (GRDR) program, designed to advance research for rare diseases. Developed as a collaborative effort of MCRF's Biomedical Informatics Research Center and its Clinical Research Center, the software is available free of charge to institutions and patient advocacy organizations developing rare disease registries to be included in the GRDR.

The main goal of the GRDR program is to create a central web-based global data repository that will aggregate coded patient information and clinical data to be available to investigators to conduct various biomedical studies, including clinical trials. This will be done by collecting and aggregating data from rare disease registries in a standardised manner and linking the registry data to Common Data Elements (CDEs) using nationally accepted standards and standard terminologies. Organizations that choose to use the registry software will be able to build and customize their registry and questionnaires using the dynamic form and other developed features in the framework. NIH/NCATS has conducted a 2-year proof of concept pilot project involving patient group registries testing the implementing of the GRDR Common Data Elements (CDEs) when establishing new patient registries, collect new data and map existing data using those CDEs, follow patients across registries, and gauge the interest in such a registry in the rare disease community. The pilot concluded in September 2013 and the rare disease community has accepted the importance of using CDEs and standard vocabularies & terminologies. NIH/NCATS is moving forward with the next steps to develop the NIH/NCATS GRDR Program. The GRDR program will collaborate and link to other major national and international rare disease databases to maximize the efforts in rare disease research.
For further information

 
Epidemiological and clinical characteristics of Holt Oram syndrome determined from the EUROCAT registry
 
An article published in the Orphanet Journal of Rare Diseases describes the epidemiological and clinical aspects of Holt-Oram syndrome (HOS) - an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects - using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The prenatal detection rate was 39.2%, with no significant change over the study period. In 55% of prenatally detected cases, parents decided to terminate pregnancy. While thumb anomalies were reported in all cases, the authors also found agenesis/hypoplasia of radius, ulnar aplasia/hypoplasia and humerus hypoplasia/phocomelia. Congenital heart defects with isolated septal defects were also reported which are underestimated since they are present in one quarter of HOS patients. Since the authors found that in 45% of cases parents opt for the continuation of pregnancy, it is important to know these characteristics for epidemiological purposes.
Read the open access article

 
Nationwide patient registry for GNE myopathy in Japan
 
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE gene. A study published in the Orphanet Journal of Rare Diseases reports the development of a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and gain further insight into the disease to improve therapy and care. The authors utilised the medical records of genetically-confirmed patients with GNE myopathy at the National Center Hospital of the National Center of Neurology and Psychiatry as well as the datasheet of the nationwide registry of dystrophinopathy patients in the Registry of Muscular Dystrophies (Remudy) to establish the Remudy-GNE myopathy. The authors report that the registry currently has 121 patients, due to the collaborative efforts of 93 physicians from 73 hospitals. The authors believe that the Japanese Remudy-GNE myopathy is useful for clarifying the natural history of the disease and recruiting patients with genetically-confirmed GNE myopathy for clinical trials.
Read the open access article

 
Bayesian model: an adaptive method of analysing clinical trials
 
Different statistical methods are used to evaluate clinical trials for rare diseases. Clinical trials for rare diseases need novel approaches to combat the small populations. Along with other things, many are now considering the use of different statistical models to interpret the results of the trial. Many researchers are considering the Bayesian model for analysing trials for orphan drugs. An article published in Statistics in Medicine describes how the Bayesian approach to conduct of rare disease trials, which compares an experimental treatment with a control where patient responses are classified as a success or failure, could be applied. According to the authors, Bayesian model does not rely on the hypothesis testing/confidence intervals paradigm, but allows determination of the posterior probability of whether an effect is beneficial. The authors assert that this approach is suited to adapting to information that accrues during a trial, potentially allowing for smaller more informative trials and for patients to receive better treatment. Additionally, accumulating results can be assessed at any time, including continually, with the possibility of modifying the design of the trial, for example, by slowing (or stopping) or expanding accrual, imbalancing randomisation to favour better-performing therapies, dropping or adding treatment arms, and changing the trial population to focus on patient subsets that are responding better to the experimental therapies. The authors also note that Bayesian analyses use available patient-outcome information, including biomarkers that accumulating data indicate might be related to clinical outcome and allow for the use of historical information and for synthesizing results of relevant trials.
Read the PubMed abstract

 
Disease Ontology 2015 update
 
An article published in Nucleic Acids Research provides an overview of the current version of the Human Disease Ontology (DO) (Access Disease Ontology ) database which is a biomedical resource of standardised common and rare disease concepts with stable identifiers organised by disease aetiology. According to the article, DO is currently in the process of moving to a multi-editor model utilising Protege to curate DO in web ontology language "in order to enable closer collaboration with the Human Phenotype Ontology, EBI’s Ontology Working Group, Mouse Genome Informatics and the Monarch Initiative among others". The article also highlights other enhancements to the DO database which includes content growth, improved data structure, new areas of community based curation efforts. The authors have also asserted that the improvements DO’s representation of genetic disease and rare diseases has been due to its collaboration with OMIM, Orphanet (http://www.orpha.net) and National Organization for Rare Disorders (https://www.rarediseases.org).
Read the PubMed abstract

 
Screening and Testing
 
Diagnosing Prader-Willi Syndrome Prenatally
 
Prader-Willi syndrome (PWS) is a severe complex neurogenetic disorder characterised by dysmorphic features and significant endocrine, cognitive and behavioral abnormalities. Prenatal diagnosis may prevent complications during labour and delivery and avoid neonatal complications. Early treatment improves the outcomes of individuals with PWS, in additional to prenatal diagnosis being crucial for families who may decide to terminate the pregnancy if the option is available to them. A study published in the American Journal of Medical Genetics characterised the fetal phenotype of a cohort of individuals with confirmed diagnoses of PWS to draw the attention of obstetricians and geneticists to the possibility of prenatal diagnosis of this severe genetic multisystem disorder. The authors describe a combination of asymmetric restricted intrauterine growth with increased head to abdominal circumference ratios, polyhydramnios and decreased fetal movements in the late second or the third trimesters along with prenatal genetic screening for PWS by a specific methylation testing. While no single prenatal finding is specific for PWS, the authors believe that when anyone of these fetal characteristics are detected, repeat ultrasounds should be performed.
Read the PubMed abstract

 
A four pronged approach to advance reimbursement for next-generation sequencing in the US
 
JAMA has published an article on the current state of reimbursement procedures of clinical sequencing in the United States (US). The authors recognise that the coding environment in the US is not structured to necessarily recognise the value of next-generation sequencing (NGS) tests. They explain that payers in the US typically base coverage decisions for genomic tests on an evaluation of the validity of the test as well as on evidence of clinical utility. Some new NGS technologies have rapidly generated the requisite evidence such as non-invasive prenatal testing for foetal aneuploidies, which is therefore widely reimbursed by private health insurers. However, for other technologies such as whole-exome sequencing for diagnosis of suspected mendelian conditions, generating evidence of clinical utility is more complex and payment less assured. To ensure payment for tests that are likely to benefit patients while avoiding the clinical and economic harms of potentially ineffective tests, the authors advocate a 4-pronged approach. As a first step, test developers should invest in robust validation studies to determine analytic and clinical validity. Second, there should be a system for prioritising research to assess clinical utility starting with a clear understanding of the quality of existing evidence of utility for different clinical applications. Third, whenever possible, existing evidentiary frameworks such as those recommended by technology assessment groups and large payers should be used for assessing clinical utility. Fourth, there needs to be an evolution in the evidence review process to account for the full range of benefits theoretically possible with NGS-based testing since payers typically do not cover testing that is not clinically actionable. The authors believe that adopting this 4-pronged approach could help to increase the quantity and quality of information payers need to make evidence based coverage decisions and help ensure that payment decisions.
Read the PubMed abstract

 


 
Ethical, Legal & Social Issues
 
Cystic Fibrosis Foundation: not-for-profit organisation morphing into a venture capitalist?
 
A recent article in the New York Times brings attention to the ethical conundrum that could be faced by not-for-profit patient organisations. The article reviews the story of Kalydeco - the first medicine to treat the underlying cause of Cystic Fibrosis - which would have never come into existence had it not been for the intervention of The Cystic Fibrosis Foundation. According to article, this drug was about to be shelved when the Cystic Fibrosis Foundation gave Vertex Pharmaceuticals USD 150 million to develop it. Kalydeco was approved for marketing authorisation in the US in 2012 and the foundation has now announced that it has sold its royalty rights for a sum of USD 3.3 billion. The Foundation has said that they will now funnel this money into further research towards Cystic Fibrosis to ensure that other treatments are brought into the market. However, the article also points out that critics have accused the Foundation of not acting ethically by cashing in on this drug. Kalydeco is a highly expensive drug that costs patients more than USD 100,000 per year and critics believe that the Foundation did not do enough to bring the price down. The Foundation on the other hand has said that it could not have any influence on the pricing of the drug, which was decided solely at the discretion of Vertex Pharmaceuticals. The Foundation believes that the financial returns will only help bringing future treatments into the fore. According to the New York Times article, this approach of “venture philosophy” is slowly catching on, which might bring about some ethical questions to attend to in the near future.
Read the article on this topic in the New York Times
Read the Cystic Fibrosis Foundation press release

 
ROAR AWARDS recognises excellence in the rare disease community
 
The Rare & Orphan Advocacy & Research (ROAR) Awards 2014 were announced after months of thoughtful deliberation. Winner of Outstanding Contract Research was presented to PSR-Agility, while Navigant Consulting received the award for Outstanding Market Access. PTC therapeutics won the Outstanding Innovation award for receiving conditional marketing permission from European Commission for Translarna (ataluren), the first approved treatment for in the EU. Nick Sireau received the award for Inspirational Stakeholder of the Year for his tireless work to bring awareness to the challenges of rare disease patients. The Parent Project Muscular Dystrophy bagged the award for Outstanding Patient Advocacy for their high quality contributions to the field. Last but not the least, the award for the prestigious 2014 European Leadership Award was presented to Yann Le Cam at EURORDIS for his exceptional involvement in the bringing vital improvements benefiting the cause of rare disease patients.
 
Write to your local Congressman: does lobbying influence research funding in the US?
 
We have often heard of private interest groups lobbying the US congressman to get their way, however, it's not known whether lobbying really helps. Should rare disease patients in America lobby congress for increased research spending by the National Institute of Health (NIH)? This is an especially interesting question since the US congress refrain from making hard earmarks (legally binding wording used by legislators) and prefer to use “soft earmarks” (legislators urge or implore but it is not legally binding) in the bills that they approve. Whether lobbying sways these “soft earmarks” which in turn influences the amount money NIH puts towards rare disease research is analysed in an article published in Management Science.

The article reports that the annual congressional bills with the NIH budget, unlike those for other funding agencies, do not include hard earmarks possibly because of the congressional confidence in the NIH peer review system. The NIH utilises a “dual peer review” process to evaluate proposals from researchers to disseminate these funds. It is viewed by some observers as exemplary in funding the highest merit projects identified through its peer review process, yet others believe that the NIH approach towards funding research maybe flawed as it is a closed process where patient organisations are only consulted at later stages, when decisions have already been made.

The authors found lobbying the congress for “soft earmarks” by rare disease patient organisations does influence federal funding to be directed towards their desired research through specific types of NIH grants -Requests for Applications (RFAs) and Program Announcements (PAs), which solicit research proposals in particular areas of research. Although significant, this is a very small part of the NIH funding, accounting for less than a third of NIH’s overall funding. The authors also found that lobbying increased with disease burden and was also found to be more successful when there was more scientific evidence of research helping the disease (such as increased scientific literature on the topic) suggesting it may have a useful informational role. The authors also report that the fear of critics alleging that lobbying distorts public science funding towards diseases with powerful groups may be unfounded as in this case lobbying reflects changes in disease-specific demand characteristics and have an important role in communicating information about these characteristics to policy makers. Thus, the authors conclude that “lobbying by private groups influences federal funding for biomedical research... (but) political influence are subtle, affect a small portion of funding, and may not necessarily have a distortive effect on public science”.
Access the article

 
The UK ICO document on the code of practice for anonymisation
 
On November 20, 2012, the UK Information Commissioner’s Office (ICO) published “Anonymisation: Managing Data Protection Risk Code of Practice”. The purpose of the Code is to provide organisations with a framework for assessing the risks of anonymisation. It also sets forth good practice recommendations that may be adopted by organisations to provide a “reasonable degree of confidence” that the publication and sharing of anonymised data will not lead to an “inappropriate disclosure of personal data.” The most significant challenge for organisations wishing to anonymise data is ensuring that personal data cannot be re-identified. The Code emphasises that the risk of re-identification through data linkage is “essentially unpredictable because it can never be predicted with certainty what data is already available or what data may be released in the future.” To assess the risk of re-identification, the ICO recommends that organisations evaluate whether any other person could identify an individual from the anonymised information, either by itself or in combination with other available information. The code also details a “motivated intruder” test where individuals ask if re-identification from anonymised data is possible by someone who is competent and has access to resources. The Code states that consent is just one of the legal bases available for legitimising the processing of personal data under the DPA but is not explicitly required. This position differs significantly from that of other European data protection authorities. This document also includes examples of various anonymisation and re-identification techniques and illustrations of how anonymised data can be used for various purposes.
Download the Anonymisation Code of Practise document

 
International Charter of principles for sharing bio-specimens and data
 
There are several hindrances to data sharing, where discrimination of vulnerable populations that could be identified through the biobanks is of great concern. Additionally, building biobanks requires significant investments and many times, out of fear of not receiving adequate recognition, academics and individuals fail to provide broad access. Also, sharing data requires the understanding of Material Transfer Agreement/Data transfer agreement (MTA/DTA), which is not understood by many researchers and institutions due to its complex language. Thus, there is a dearth of understandable internationally recognised guidelines or "best practices" recommendations that would encourage sharing of data across the board.

A recently published paper in the European Journal of Human Genetics called "International Charter of principles for sharing bio-specimens and data" describes the best practices in providing a the common overview and the foundational framework of the practice of sharing biological data. The charter is the result of careful negotiation of different stakeholder’s - patient representatives, legal experts, ethical experts, industry representatives and scientists - which included a stakeholders workshop held in Brussels in October 2013. The model is built on careful analysis of the discussions of the issues produced during these meetings and on earlier consensus documents and position statements.

The Charter recognises that sharing data is essential for fostering biomedical research and this should be complicit with the rules of MTA/DTA. The five principles for the custodianship of bio-specimen repositories and data - respect for privacy and autonomy, reciprocity (feedback provided to institutions and patients), freedom of scientific enquiry (data should be exploited to the maximum extent possible), attribution and respect for intellectual property - constitute the common premise for the Charter. The article elucidates these principles in detail as well as elaborates on other aspects such ensuring the international quality standards of data and bio-specimens usage of previously collected data samples and returning results. In addition to a framework for the acknowledgement of biospecimen and data collections and incorporates all relevant international legal and ethical regulations, the charter has also provided a template for both MTA/DTA Transfer Agreements.
Read the open access article

 


 
New Syndromes
 



 
Progressive neurological decline with brain hypomyelination linked to ERCC6 mutations in a family
 
The authors described patients from the same family with biallelic ERCC6 mutations and brain hypomyelination, microcephaly, cognitive decline, and skill regression but without photosensitivity or progeria.
Consult the Pubmed abstract

 
Am J Med Genet A. ; 164(11):2892-900 ; November 2014
 
Neuromuscular disease in a family with overlapping myopathic and neurogenic findings: expansion of the phenotype associated with NEFL mutations
 
The authors reported on a family in which four members, a mother and her three sons, were affected by a neuromuscular disease. Two of four affected members manifested nemaline myopathy, a common subtype of congenital myopathy, while the other two had a nonspecific myopathy. A novel NEFL nonsense mutation was identified in all affected members. NEFL mutations have been previously linked to Charcot-Marie-Tooth disease in humans.
Consult the Pubmed abstract

 
JAMA Neurol. ; 71(11):1413-20 ; November 2014
 
Novel congenital disorder of glycosylation due to heterozygous mutations in COG2 in one patient
 
The authors reported a patient showing severe acquired microcephaly, psychomotor retardation, seizures, liver dysfunction, hypocupremia, and hypoceruloplasminemia. Two heterozygous mutations in COG2 were identified: a de novo frameshift mutation and a missense mutation.
Consult the Pubmed abstract

 
Clin Genet. ; [Epub ahead of print] ; April 2014
 
Unique eye phenotype characterized by optic disc anomalies, macular atrophy, coloboma of the iris, and chorioretina linked to a homozygous SIX6 mutation in a consanguineous family
 
The authors reported on a consanguineous family with three children who had optic disc anomalies, macular atrophy, coloboma of the iris, and chorioretina. This unique eye phenotype is associated to a homozygous SIX6 mutation.
Consult the Pubmed abstract

 
Clin Genet. ; [Epub ahead of print] ; April 2014
 
Novel association of parkinsonism resembling Parkinson disease and multiple lipomatosis in familial and sporadic cases
 
The authors described a new association of parkinsonism clinically resembling Parkinson disease with multiple lipomatosis in familial and sporadic cases, suggesting that this may constitute a new entity.
Consult the Pubmed abstract

 
Neurology ; 83(18):1673-4 ; October 2014
 


 
New Genes
 



 
Autosomal recessive primary microcephaly due to a missense mutation in HsSAS-6 in a large consanguineous Pakistani family
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive primary microcephaly"

 
Hum Mol Genet. ; 23(22):5940-9 ; November 2014
 
Isolated CoQ-cytochrome C reductase deficiency associated with a missense mutation in UQCC3 in a consanguineous patient
 
Consult the Pubmed abstract
 
To read more about "Isolated CoQ-cytochrome C reductase deficiency"

 
Hum Mol Genet. ; 23(23):6356-65 ; December 2014
 
Autosomal dominant pattern dystrophy of the retinal pigment epithelium caused by OTX2 mutations in two families
 
Consult the Pubmed abstract
 
To read more about "Patterned dystrophy of the retinal pigment epithelium"

 
J Med Genet. ; 51(12):797-805 ; December 2014
 
Autosomal recessive isolated optic atrophy due to homozygous or compound heterozygous missense and frameshift mutations in ACO2
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive isolated optic atrophy"

 
J Med Genet. ; 51(12):834-8 ; December 2014
 
Nasolacrimal duct obstruction linked to an IGSF3 mutation in a family
 
Consult the Pubmed abstract
 
To read more about "Nasolacrimal duct cyst"

 
Clin Genet. ; 86(6):589-91 ; December 2014
 
Anophthalmia/microphthalmia: identification of dominant COL4A1 mutations in patients
 
Consult the Pubmed abstract
 
To read more about "Anophthalmia - microphthalmia"

 
Clin Genet. ; 86(5):475-81 ; November 2014
 
Familial isolated arrhythmogenic right ventricular dysplasia associated with a heterozygous missense mutation in LDB3
 
Consult the Pubmed abstract
 
To read more about "Familial isolated arrhythmogenic right ventricular dysplasia"

 
Clin Genet. ; [Epub ahead of print] ; July 2014
 
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome caused by biallelic mutations in TRNT1
 
Consult the Pubmed abstract
 
To read more about "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"

 
Blood ; 124(18):2867-71 ; October 2014
 
Hereditary isolated aplastic anemia associated with germline mutation of ACD in one family
 
Consult the Pubmed abstract
 
To read more about "Hereditary isolated aplastic anemia"

 
Blood ; 124(18):2767-74 ; October 2014
 
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in ACD in one family
 
Consult the Pubmed abstract
 
To read more about "Hoyeraal-Hreidarsson syndrome"

 
Genes Dev. ; 28(19):2090-102 ; October 2014
 
Familial gastric cancer associated with germline mutations in MAP3K6
 
Consult the Pubmed abstract
 
To read more about "Familial gastric cancer"

 
PLoS Genet. ; 10(10):e1004669 ; October 2014
 
Rigid spine syndrome linked to a novel homozygous recessive missense ACTA1 variant in two brothers
 
Consult the Pubmed abstract
 
To read more about "Rigid spine syndrome"

 
Eur J Hum Genet. ; [Epub ahead of print] ; September 2014
 
Gollop-Wolfgang complex associated with mutations of BHLHA9 in two patients
 
Consult the Pubmed abstract
 
To read more about "Gollop-Wolfgang complex"

 
Orphanet J Rare Dis. ; 9(1):125 ; October 2014
 
Birdshot chorioretinopathy: evidence for an association with ERAP2
 
Consult the Pubmed abstract
 
To read more about "Birdshot chorioretinopathy"

 
Hum Mol Genet. ; 23(22):6081-7 ; November 2014
 
Gnathodiaphyseal dysplasia linked to COL1A1 mutation in one family
 
Consult the Pubmed abstract
 
To read more about "Gnathodiaphyseal dysplasia"

 
Clin Genet. ; [Epub ahead of print] ; May 2014
 


 
Research in Action
 
Clinical Research
 



 
Cryopyrin-associated periodic syndrome: although anakinra was efficient and well-tolerated during pregnancy, further data on causal relationship with renal agenesis are needed
 
Consult the Pubmed abstract
 
To read more about "Cryopyrin-associated periodic syndrome"

 
Arthritis Rheumatol. ; 66(11):3227-3232 ; November 2014
 
Colchicine-resistant familial Mediterranean fever: canakinumab is effective in treating pediatric patients
 
Consult the Pubmed abstract
 
To read more about "Familial Mediterranean fever"

 
Arthritis Rheumatol. ; 66(11):3241-3 ; November 2014
 
Giant cell arteritis: adding a 10-week treatment of adalimumab to prednisone did not increase the number of patients in remission
 
Consult the Pubmed abstract
 
To read more about "Giant cell arteritis"

 
Ann Rheum Dis. ; 73(12):2074-81 ; December 2014
 
Fibrous dysplasia of bone: mixed results with alendronate treatment
 
Consult the Pubmed abstract
 
To read more about "McCune-Albright syndrome"
To read more about "Fibrous dysplasia of bone"

 
J Clin Endocrinol Metab. ; 99(11):4133-40 ; November 2014
 
Addison disease: continuous subcutaneous hydrocortisone infusion does not improve subjective health status
 
Consult the Pubmed abstract
 
To read more about "Addison disease"

 
J Clin Endocrinol Metab. ; 99(11):4149-57 ; November 2014
 
Neuromyelitis optica: mycophenolate mofetil treatment might induce reduction of relapse frequency, stabilize or improve disability and be well tolerated
 
Consult the Pubmed abstract
 
To read more about "Neuromyelitis optica"

 
JAMA Neurol. ; 71(11):1372-8 ; November 2014
 
Eosinophilic esophagitis: four-food and six-food group elimination diet achieved remission in 72% of adult patients
 
Consult the Pubmed abstract
 
To read more about "Eosinophilic esophagitis"

 
J Allergy Clin Immunol. ; 134(5):1093-1099 ; November 2014
 
Idiopathic aplastic anemia: moderate-dose cyclophosphamide has significant toxicity and does not prevent relapse and clonal evolution
 
Consult the Pubmed abstract
 
To read more about "Idiopathic aplastic anemia"

 
Blood ; 124(18):2820-3 ; October 2014
 
Fragile X syndrome: reassuring safety data along with potential functional benefit emphasizes the need of a placebo-controlled trial to ascertain lovastatin efficacy
 
Consult the Pubmed abstract
 
To read more about "Fragile X syndrome"

 
Am J Med Genet A. ; 164(11):2834-42 ; November 2014
 
Recurrent life-threatening laryngospasm due to SCN4A mutations can be cured with carbamazepine treatment
 
Consult the Pubmed abstract
 
Pediatrics ; 134(5):e1447-50 ; November 2014
 
Hypotrichosis – lymphedema – telangiectasia – renal defect is associated with a truncating mutation in SOX18 gene
 
Consult the Pubmed abstract
 
To read more about "Hypotrichosis - lymphedema - telangiectasia"
To read more about "Hypotrichosis - lymphedema - telangiectasia"

 
Clin Genet. ; [Epub ahead of print] ; April 2014
 
Therapeutic Approaches
 
Acquired hemophilia: anti-factor IXa/X bispecific antibody ACE910 prevents joint bleeds and other bleeds in a long-term primate model
 
Consult the Pubmed abstract
 
To read more about "Acquired hemophilia"

 
Blood ; 124(20):3165-71 ; November 2014
 
Osteogenesis imperfecta: rapidly growing Brtl/+ mouse model improves bone mass and strength with sclerostin antibody treatment
 
Consult the abstract
 
To read more about "Osteogenesis imperfecta"

 
Bone ; 71:115-123 ; February 2015
 
Cherubism: bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in mice
 
Consult the abstract
 
To read more about "Cherubism"

 
Bone ; 71:201-209 ; February 2015
 
Graft versus host disease: ibrutinib treatment ameliorates murine chronic disease
 
Consult the Pubmed abstract
 
To read more about "Graft versus host disease"

 
J Clin Invest. ; 124(11):4867-76 ; November 2014
 
Diagnostic Approaches
 

 
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
 
Consult the Pubmed abstract
 
J Med Genet. ; 51(11):748-55 ; November 2014
 
Noonan syndrome, cardiofaciocutaneous syndrome, and Costello syndrome: perinatal features
 
Consult the Pubmed abstracts
 
To read more about "Costello syndrome"
To read more about "Noonan syndrome"
To read more about "Cardiofaciocutaneous syndrome"

 
Am J Med Genet A. ; 164(11):2814-21 ; November 2014
Am J Med Genet A. ; 164A(8):2036-42 ; August 2014
 


 
Patient Management and Therapy
 
Alpha-thalassemia: a review
 
Consult the Pubmed abstract
 
To read more about "Alpha-thalassemia"

 
N Engl J Med. ; 371(20):1908-16 ; November 2014
 
Propriospinal myoclonus: a review
 
Consult the Pubmed abstract
 
Neurology ; 83(20):1862-1870 ; November 2014
 
Glioblastoma: two reviews on emerging therapies and orphan drugs
 
Consult the Pubmed abstract
Consult the abstract

 
To read more about "Glioblastoma"

 
JAMA Neurol. ; 71(11):1437-44 ; November 2014Orphan Drugs : Research and Reviews ; 2014(4) :83-91 ; November 2014
 
Rare pulmonary hypertension: review on clinical diagnosis
 
Consult the Pubmed abstract

 
To read more about "Rare pulmonary hypertension"

 
Circulation ; 130(20):1820-30 ; November 2014
 
Pulmonary arterial hypertension: review on treatments
 
Consult the abstract
 
To read more about "Pulmonary arterial hypertension"

 
Expert Opinion on Orphan Drugs ; 2(11):1137-1145 ; November 2014
 
A review on the emergence of gene therapies for rare diseases
 
Consult the abstract
 
Expert Opinion on Orphan Drugs ; 2(11):1197-1209 ; November 2014
 
Cysticercosis: review on clinical symptoms, diagnosis and treatment
 
Consult the abstract
 
To read more about "Cysticercosis"

 
Lancet Neurology ; 13(12):1202-1215 ; December 2014
 
Paroxysmal nocturnal hemoglobinuria: a review
 
Consult the Pubmed abstract
 
To read more about "Paroxysmal nocturnal hemoglobinuria"

 
Blood ; 124(18):2804-2811 ; October 2014
 
Myelodysplastic syndrome: review on recent developments
 
Consult the Pubmed abstract
 
To read more about "Myelodysplastic syndrome"

 
Blood ; 124(18):2793-2803 ; October 2014
 
Acromegaly: surgery may be associated with higher remission rate
 
Consult the Pubmed abstract
 
To read more about "Acromegaly"

 
J Clin Endocrinol Metab. ; 99(11):4003-14 ; November 2014
 
Fragile X syndrome: review of associated medical problems
 
Consult the Pubmed abstract
 
To read more about "Fragile X syndrome"

 
Pediatrics ; 134(5):995-1005 ; November 2014
 
Systemic-onset juvenile idiopathic arthritis: review on clinical features, treatment, and outcome
 
Consult the Pubmed abstract
 
To read more about "Systemic-onset juvenile idiopathic arthritis"

 
Arthritis Rheumatol. ; 66(11):3160-9 ; November 2014
 
Disorder of neurotransmitter metabolism and transport: review on orphan drugs in development
 
Consult the abstract
 
To read more about "Disorder of neurotransmitter metabolism and transport"

 
Orphan Drugs: Research and Reviews ; 2014(4):63-70 ; September 2014
 
Cystic fibrosis: review on ivacaftor therapy
 
Consult the abstract
 
To read more about "Cystic fibrosis"

 
Expert Opinion on Orphan Drugs ; 2(11):1225-1232 ; November 2014
 
Cystic fibrosis: review on new treatments in development for Pseudomonas aeruginosa infections in the lungs
 
Consult the abstract
 
To read more about "Cystic fibrosis"

 
Orphan Drugs: Research and Reviews ; 2014(4):71-81 ; September 2014
 
Mantle cell lymphoma: review on bortezomib for the treatment
 
Consult the abstract
 
To read more about "Mantle cell lymphoma"

 
Expert Opinion on Orphan Drugs ; 2(11):1233-1241 ; November 2014
 
Hurler syndrome: early treatment is associated with improved cognition
 
Consult the Pubmed abstract
 
To read more about "Hurler syndrome"

 
Ann Neurol. ; 76(5):747-53 ; November 2014
 


 
Orphan Drugs
 
Gene therapy Glybera sets a new price record
 
Glybera, the first approved gene therapy is set to go on sale in Germany. Developed to treat patients with the rare disease lipoprotein lipase deficiency, Glybera received approval in Europe two years ago but the product launch was delayed to allow for the collection of six year follow-up data on its benefits. The pricing dossier submitted by Glybera’s creator UniQure and its marketing partner Chiese, to the Germany’s Federal Joint Committee (GBA), seeks €53,000 per vial, which with a total of 21 vials needed for the average patient would equate to a cost of €1.11 million per patient.

The price is valid in Germany for one year, but ultimately the figure will be dictated by the outcome of GBA and negotiations with statutory health insurance funds, which will issue an assessment of the drug’s benefits by the end of April 2015.
For further information

 
Regulatory News
 


 
Signifor granted market authorisation in the European Union
 
Signifor LAR (pasireotide) has been granted market authorisation in the European Union (EU) for the treatment of a rare growth disorder acromegaly. Acromegaly is caused by a non-cancerous tumour in the pituitary gland that causes excessive secretion of the growth hormone - insulin-like growth factor-1. Signifor was first approved in Europe in 2012 as a twice-daily subcutaneous injection for Cushing's disease, but the new long-acting formulation requires just one intramuscular injection a month.
For further information

 
Blincyto approved by the FDA under the accelerated approval program, to treat a rare form of acute lymphoblastic leukaemia
 
Accepted under the U.S. Food and Drug Administration accelerated approval program, Blincyto (blinatumomab) will help treat patients with Philadelphia chromosome negative precursor B cell acute lymphoblastic leukaemia (B cell ALL), an uncommon form of acute lymphoblastic leukaemia (ALL). Precursor B cell ALL is a rapidly growing type of cancer in which the bone marrow makes too many B cell lymphoblasts, an immature type of white blood cell.

Blincyto is intended for patients whose cancer has relapsed or were refractory to previous treatment. It is a novel immunotherapy that engages the body’s T cells to destroy leukaemia cells, by acting as a connector between a protein found on the surface of most B cell lymphoblasts, and a protein on T cell lymphocytes.

Blincyto was also granted breakthrough therapy designation, priority review and orphan product designation because the sponsor demonstrated, through preliminary clinical evidence, that the drug may offer a substantial improvement over available therapies.
For further information

 
Food and Drug Administration Activities for Patient Participation in Medical Product Discussions: Establishment of a Public Docket
 
Following the footsteps of the EMA, the FDA’s has published its intent to gather input from stakeholders on strategies to obtain the views of patients during the medical product development process and ways to consider patients’ perspectives during regulatory discussions. Although the docket was closed on 4 December, 2014, the FDA welcomes comments from stakeholders at any time. br> For further information
 
Twenty two Positive opinions recommending orphan designation at the December 2014 COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 22 positive opinions recommending the following medicines for designation as orphan medicinal products to the European Commission, issued at the December 2014 meeting for the:

- 2 treatments for adult T-cell leukaemia/lymphoma
- treatment of placental insufficiency
- treatment of acute myeloid leukaemia
- treatment of neuroblastoma
- 2 treatments for Aicardi-Goutières syndrome
- treatment of pancreatic cancer
- treatment of interstitial cystitis
- treatment of aspartylglucosaminuria
- treatment of calciphylaxis
- treatment of congenital factor VII deficiency
- prevention of graft-versus-host disease
- treatment of spinocerebellar ataxia
- treatment of mucopolysaccharidosis type IIIB
- treatment of diffuse large B-cell lymphoma
- treatment of ovarian cancer
- treatment of malignant mesothelioma
- treatment of gastrointestinal stromal tumours
- treatment of hypophosphatasia
- treatment of Wolfram syndrome
- treatment of plasma cell myeloma

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

 
Political and Scientific News
 
Rare disease clinical trials registered in Clinicaltrials.gov differ significantly from non-rare disease clinical trials
 
An article published in the Orphanet Journal of Rare Diseases provides a comprehensive characterisation of rare disease clinical trials by comparing them with non-rare diseases trials registered in ClinicalTrials.gov ”. According to the authors, out 24,088 Interventional trials registered on ClinicalTrials.gov, 2,759 trials are classified as rare disease trials, which were utilised for illustrating its features. The authors found that the rare disease trials differed significantly from the non-rare trials in several areas. Rare disease trials not only recruited smaller number of patients, they did not actively pursue enrolment. The study design of these two kinds of trials were also significantly different as rare disease trials were mostly single arm studies, non randomised and open label studies. Moreover, the authors found that rare disease trials were terminated earlier than non-rare disease trials. According to the authors, the results of this study provide useful, quantifiable insights on how majority of rare disease trials are conducted so that improvements on the trials can be made wherever possible. However, the authors also draw attention to the some critical limitations of Clinicaltrials.gov that may vitiate some of the findings of this study. One of the limitations that the authors highlight is that although ClinicalTrials.gov recommends categorisation of rare and non-rare trials on conditions being submitted as MeSH terms, it is not enforced. Thus, the authors had to exclude 30% of the studies as these could not be mapped on conditions to MeSH Id’s and also caution against the potential of false negatives in the non-rare trials that are registered.
Read the open access article

 
Outcome research for rare disease treatments
 
Two recent articles examine methods for generating evidence on health outcomes in patients with rare diseases. The authors of an article published in BMJ assessed information related to the proposed methods, the specific rare disease being studied, and outcomes from the application of the methods, all of which have particularly interesting in recent times. Authors found that most articles also focused on innovations in methods for clinical trials intended to minimise the number of participants needed to meet the study goals or to maximise the proportion of participants who receive active treatment to encourage enrolment. Several promising strategies were uncovered which aimed to minimise trial sample size, which included making adjustments to traditional randomised trials by choosing a longer trial duration and capturing more events, focusing on high risk patients, using genetic testing to reduce variability or by using factorial designs, in which two (or more) treatment comparisons are carried out simultaneously. A second approach identified by the authors through literature was to select an outcome measure using a continuous outcome variable, a surrogate marker, a composite endpoint, or repeated measure outcome. Another method is to build networks to allow broader access to trials as they can facilitate the recruitment of larger and more geographically diverse patient populations. The authors detail adaptive trial designs, which allows modification of some aspects of the trial based on prospectively planned interim data analyses, as an innovative method to minimize total numbers. The two basic types of adaptive designs, adaptive randomisation and sequential trials, are explained in detail.

The methods to maximise on treatment participants include reducing recruitment requirements by utilising methods such as crossover trial design which involve randomising patients from treatment to no treatment, or an N-of-1 trial which involves offering a patient multiple active or placebo treatment in a double-blind, randomised manner, while regularly measuring key endpoints. Studies using observational data to assess patient health outcomes in rare diseases such as using propensity scores which "summarises all potential confounders into a single scalar score" and self controlled observational designs in which patients act as their own controls were also identified in the literature.
Read the PubMed abstract

A second article published on the same topic in International Journal of Technology Assessment in Health Care also summarises research methods for rare diseases so that evidence can be generated to inform robust Health Technology Assessment decisions. The article describes most of the methods described in the article mentioned above but also pay particular attention to adaptive trials such as bayesian adaptive trials (see study above). They also believe that it is important to take into account the experiences of patients when evaluating medicines for rare disease patients. They support the use of structured instruments for patient reported outcomes to measure functioning and well-being by means of quality or life/patient-reported outcome measures. These instruments allow a patient to evaluate their health in terms of the impact a given health state has on the ability to function and enjoy life. The views of patients, their families and carers/carer-givers who have unique knowledge about living with a condition can be elicited by means of qualitative research. The authors believe that obtaining an international consensus is imperative to improve evidence collection and assessment of technologies for rare diseases.
Access the article

 


 
Grants
 


 
Research on Eosinophil Associated Disorders (R01) and (R21)
 
These two NIH grants are open to non-US entities. Areas of interest include, but are not limited to, the following topics
Research on the fundamental immuno-biologic and mechanistic roles of human eosinophils in Eosinophil-Associated Disorders
Development of predictive biomarkers and clinical outcomes for Eosinophil-Associated Disorders Development of novel therapeutic targets for use in Eosinophil-Associated Disorders
Preclinical evaluation of existing therapeutic agents for use in Eosinophil-Associated Disorders
Identification and improvement of novel invasive and non-invasive techniques for the diagnosis and clinical monitoring of Eosinophil-Associated Disorders
Improvement of diagnostic criteria that delineate differential phenotypes within Eosinophil-Associated Disorders
Development of novel animal models with improved predictive value for human Eosinophilic-Associated Disorders
Earliest Submission Date for the R01 grant: 5 January 2015
Earliest Submission Date for the R21 grant: 16 January 2015

For further details on the R01 grant
For further details on the R21 grant

 
Support for European Reference Networks: efficient network modelling and validation (Horizon 2020, European Commission)
 
This is a call for proposals that will provide coordinated support to the activities of the ERN under the framework of Article 12 of Directive 2011/24/EU concerning implementation of a validated system methodology for the optimal organisation, governance, maintenance and continuous monitoring and evaluation of ERN and their centers. A budget of €29,000,000 has been made available for successful proposals in this area. Each proposal should present quantitative or qualitative indicators to quantify the potential impact.
Application Deadline: 21 April, 2015
For further information

 
ERare : Joint Transnational Call 2015 Preannouncement
 
ERare has opened the seventh ERare joint call for funding multilateral research projects on rare diseases (JTC 2015) together with the European Commission (EC) under the ERANet cofund mechanism. The call is expected to be opened simultaneously by the parties in their respective countries. The following 17 countries (23 funding agencies) intend to participate in this call: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Greece, Hungary, Israel, Italy, Latvia, Poland,Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition. For more information, details of the topic, eligibility criteria and timeline go to www.erare.eu

 
DEBRA International research grants
 
The spring 2015 call for applications for new research funding from DEBRA International is now open, with a submission deadline of 1 March 2015. Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This grant aims to:
  • Improve the understanding of the biology and genetics of all forms of EB, as better understanding can lead to new approaches to diagnose and treat EB;
  • Work towards the development of therapies (including possible gene-therapies, cell-therapies, drug therapies or protein therapies);
  • Understand the nature of wound healing and the development of skin cancer in EB, and seek to develop better treatments and prevention strategies;
  • Support clinical care research to improve the management of EB through symptom relief.

  • For Further Information

     


     
    Partnersearch, Job Opportunities
     
    Call for Interest: Endowed Chair for Health Services Research for rare diseases in children
     
    The Kindness for Kids Foundation is a non-profit organisation based in Munich, which is involved since its inception in 2003 for children with rare diseases. Under the proposed endowed professorship for health services research for rare diseases in childhood, the Foundation is looking for a suitable medical faculty as the location thereof. Objective of the Chair is to sustainably improve the quality of life of children with rare diseases. You can find the complete announcement on www.kindness-for-kids.de If interested, please submit a letter of intent initially until 31 December 2014 by the Foundation. This is a necessary precondition for the further application. The application deadline is February 28 2015th If you have questions, please contact Dr. Barske responsible for the promotion of research at Kindness for Kids, by phone (089 21 56 85 80) or by email (j.barske@kindness-for-kids.de).
     


     
    Courses & Educational Initiatives
     

     
    ESH-ENERCA Training course on haemoglobin disorders: laboratory diagnosis and clinical management
     
    Date: 23-24 January, 2015
    Venue: Barcelona, Spain

    The course will cover the following topics: Epidemiology in practice, Clinical aspects of thalassaemia, Trends in biological aspects of thalassaemia, Abnormal haemoglobins and Complications and treatments of thalassaemia and sickle cell disease.
    Participants are encouraged to submit clinical cases or abstracts for presentation and discussion during the meeting. Submit your detailed clinical case(s) online
    Deadline for clinical cases and abstracts: 24 November, 2014
    For further information

     
    European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
     
    Date: February/March of each year
    Venue: Nimes, France

    It 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.
    For further information

     
    EURORDIS ExPRESS 2015
     
    Date: 1-5 June, 2015
    Venue: Barcelona, Spain

    ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
    For further information contact Nancy Hamilton
    Visit the EURORDIS website for more information.

     
    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.
    Advanced metabolic course: Controversies in management
    Date: 11-13 March, 2015
    Venue: Manchester, UK

    in partnership with Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust.
    For Further Information

    The changing spectrum of IMD: surviving longer and growing old with IMDs
    Date: 21-23 May, 2015
    Venue: Washington DC, US

    Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
    Registration deadline: 8th April

    Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
    Date: 24-26 June 2015
    Venue: Paris, France

    in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
    Registration deadline: 13th May

    Genetic congenital heart diseases
    Date: 7-9 October 2015
    Venue: Rome, Italy

    in partnership with Bambino Gesù Children’s Hospital, Rome
    Registration deadline: 27th August

    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

     
    Health care guidelines on rare diseases: Quality assessment
     
    Date: 23-24 February, 2015
    Venue: Rome, Italy

    This course is part of the capacity building activities of the project RARE-Bestpractices. These activities have been conceived to support the upcoming European Reference Networks and Centres of Expertise in the development of their capacity to produce and use health care guidelines, according to the criteria set up by the Commission Delegated Decision of the 10/3/2014 (2014/286/EU).
    For more information.

     
    3Gb-TEST course on NGS: “Next-generation sequencing in a diagnostic setting
     
    Date: 20-23 April, 2015
    Venue: Prague, Czech Republic

    This 4-day course on Next Generation Sequencing in Prague - Czech Republic in the period of 20-23th April 2015 will focus on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (limited places). The course will also include an evening symposium co-organised by Milan Macek; “Genotranslation: Interpretation of genome data in diagnostics”
    For Further Information

     


     
    What's on Where?
     

     
    European Forum for Good Clinical Practice Annual Conference 2015
     
    Date: 27-28 January, 2015
    Venue: Brussels, Belgium

    The conference will discuss the topic on: How do We Improve Health without Betraying Confidentiality within Current and Upcoming EU Regulations? What is the cost of maintaining patient confidentiality in health research?
    For Further Information

     
    Colloquium on Therapeutic Patient Education (TPE): From practice to research on therapeutic patient education: methodology
     
    Date: 29 January, 2015
    Venue: Paris, France

    This colloquium will focus on relationships between practice and research in TPE, especially methodological questions pertaining to said relationships. The purpose of TPE is to “help patients acquire and hone the skills they need to live with chronic disease”.
    For Further Information

     
    Development of Medicines For Paediatric And Rare Diseases: Situation Assessment And The Way Forward
     
    Date: 3-4 February, 2015
    Venue: Basel, Switzerland

    The conference is planned as a kick-off meeting for an annual event to establish a platform for people that work in academic research, commercial drug development, clinical research, patient advocacy, philanthropy, regulatory authorities, & more, and will allow to contribute to a new framework of thinking, interacting and networking with key people that otherwise are not easy to meet.
    For Further Information

     
    6th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
     
    Date: 27-28 February, 2015
    Venue: Milan, Italy

    The International Meeting on Pulmonary Rare Diseases and Orphan Drugs is the only European event dedicated to different types of rare pulmonary diseases affecting both parenchymal and vascular structures. The meeting will be an opportunity to exchange and disseminate knowledge among experts in different areas of clinical and basic research in respiratory medicine, in efforts to provide new insights into science and clinical care, thus helping patients and supporting doctors.
    For Further Information

     
    2nd International Klaus Betke Symposium on Pediatric Hematology
     
    Date: 6–7 March, 2015
    Venue: Munich, Germany

    The conference will focus on Rare Diseases of the Human Immune System – Neutrophil Granulocytes and Biology of Mitochondria.
    For Further Information

     
    3rd Edition of the Orphan Drug & Rare Disease Seminar
     
    Date: 27 March, 2015
    Venue: Lyon, France

    Jointly organized by Eudipharm, F-CRIN and OrphanDev, this Eudipharm training seminar aims at raising awareness among clinical research actors on drug development specificities for rare diseases. This edition will attempt to answer this very “hot topic” by providing tools and solutions to clinical research professionals and project carriers, thanks to the participation of clinical research experts and the authorities.
    For Further Information

     
    3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: “From Better Start to Better Living”
     
    Date: 11-12 April, 2015
    Venue: Melbourne, Australia

    The conference provides opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise. The conference welcomes anyone who may be interested to participate in this event as the more knowledge and information that can be discovered and shared means a better quality of life for those living with PWS, their medical professionals, carers and families.
    For Further Information

     
    2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
     
    Date: 27-29 April, 2015
    Venue: Crete, Greece

    European funded research consortium GENCODYS exploits a multilevel approach to resolve the integrative networks in intellectual disabilities. The conference will bring together about 150 top researchers, medical doctors and patient representatives in the field of Cognitive Research and related activities.
    Talks and submissions for talks have to be related to studies of cognitive dysfunction but can include other fields, namely genetics, cellular, molecular and physiological studies, genomics and epigenomics and bioinformatics.
    For Further Information

     
    Trisomy 21 Research Society (T21RS) International Conference
     
    Date: 4-6 June, 2015
    Venue: Paris, France

    T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
    For Further Information

     
    The EUROPEAN HUMAN GENETICS CONFERENCE 2015
     
    Date: 6-9 June, 2015
    Venue: Scotland, United Kingdom

    The European Human Genetics Conference (now in its 49th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet.
    For Further Information

     
    Tourette Syndrome Congress 2015
     
    Date: 24-26 June, 2015
    Venue: London, United Kingdom

    The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for clinicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionals with an interest in current research, diagnosis and treatment of these and related conditions.
    For Further Information

     
    7th International Conference on Children’s Bone Health
     
    Date: 27-30 June, 2015
    Venue: Salzburg, Austria

    The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
    The call for abstracts opens in September 2014.
    Abstract deadline: 6 February 2015.
    For Further Information

     
    The First Russian Congenital Aniridia Conference
     
    Date: 3-4 July, 2015
    Venue: Cheboksary, Russia

    The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
    For Further Information

     
    10th European Cytogenetics Conference
     
    Date: 4-7 July, 2015
    Venue: Strasbourg, France

    The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
    For Further Information

     
    Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
     
    Date: 23-26 July, 2015
    Venue: Missouri, United States

    The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
    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

     
    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

     


    Commercial events

     
    Pharma Pricing and Market Access Congress 2015
     
    Date: 24-26 February, 2015
    Venue: London, United Kingdom

    The conference provides information on the latest policies affecting market access from payers, HTA authorities and leading industry experts.
    For Further Information

     
    World Orphan Drug Congress USA 2015
     
    Date: 3-7 April, 2016
    Venue: Maryland, United States


    For Further Information

     
    Pan-Omics Summit
     
    Date: 21-22 May, 2015
    Venue: Massachusetts, United States

    Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
    For Further Information

     
    World Orphan Drug Congress Asia 2015
     
    Date: 3-4 June, 2015
    Venue: Singapore


    For Further Information

     


     
    OrphaNews, The Newsletter of the Rare Diseases Community.
    OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Divya Unni
    Editors for Scientific Content: Sophie Höhn
    Contact Us
    Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

    INTERNATIONAL CORRESPONDENTS
    Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), 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), Ugur Ozbek (Turkey), Dian Donnai (UK)
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