15 June 2016 print
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European Conference for RD conference: a landmark success

With over 760 attendees from over 40 countries, the European Conference for Rare Diseases was more than a grand success. This was one conference, which truly represented all stakeholders of rare diseases and especially the concerns of the patients and the families. It presented how old problems have been tackled and new challenges are being looked at. An inspiring 2 days, and an additional day for pre-conference tutorials, that brought us back with renewed motivation and vigour.

During the opening plenary, the young patient advocates panel (pictured below) brought together six representatives, from different countries across Europe and around the world to take to the stage and share their unique perspectives about the future of patient advocacy and how young people are creating change in the field of rare diseases.

The pre-conference tutorials were very informative whose aim was to elucidate certain topics that could be deemed complex as well as gave a sense of how an attendee could make the most out of the 2 day, idea-packed conference.

The attendees were spoilt for choice as they had to choose from 6 themes that ran concurrently, each more interesting than the other. The themes were:
Game Changers in Research
The speakers of this theme spoke extensively on the move from research to diagnosis of new technologies with the patient at the centre of new developments. Topics were around the interplay between public and private funding streams for research, and on some of the breakthroughs which have impacted on patient care, some of which have been enabled by innovative funding models. The discussion also covered research in the delivery of new therapies to patients and how this can be enabled in a sustainable manner.

Game Changers in Diagnosis
In this theme attendees, explored the scientific, clinical, societal, ethical and practical questions that the patients and families find themselves and gain and retain a sense of control over their lives to the fullest extent possible. How patients struggle with getting a diagnosis, how patients can be helped obtaining a diagnosis and the current advances in diagnostic measurements were discussed in detail.

Game Changers in Drug Development & Authorisation: Medicines & Adaptive Pathways
In this theme, the speakers, many of whom were from regulatory agencies, spoke extensively on how the development, authorisation and access process can be ameliorated in order to get the best possible outcome for the rare disease patients. In this theme the attendees were given a sense of what needs our attention most and how we can smooth the path from research through to real treatments with real access for real patients.

Game Changers in Care Provision
In this theme ambitions to refine a shared understanding of what the rare disease community really needs care networks to look like in reality was explored indepth. Drawing on expertise from across Europe, speakers shared case studies to show what the true potential is in connecting isolated experts and sharing knowledge and information. It was also elucidated how care will change in local hospitals from the creation of European Reference Networks and mapping the evolution of practices and treatments through a common currency that enables experts to share knowledge and practices, driving improvements for all.

Game Changers in Social Policy
In this theme the speakers delved both into the current policy scenario as well as into innovative care solutions which are being experimented throughout Europe.

Game Changers in Global Society
The presentations in this theme drove home the message that rare diseases are truly global, which can greatly accelerate advance knowledge, public awareness, and drug discovery and development in addition to connecting people. Social media experts shared their knowledge on how to use the internet efficiently. Leaders from various global enterprises involved in research, manufacturing, knowledge exchange, policy, and patient networking discussed on how greater synergy across all spheres can improve orphan drug development and approval. The sessions came out with the message that rare diseases is an international public health priority and a collaborative effort is required to bring this fact to the fore.

The rare disease community looks forward to the next ECRD conference, which will be held on 10 - 12 May, 2018 in Vienna, Austria.

Videos of the Opening and Closing Plenary are available here
Links to the presentations are available here.
Links to the posters are available here

Spotlight on...
GARD and Orphanet have signed a collaboration agreement to improve information on rare diseases across the seas
The Genetic and Rare Disease Information Center (GARD), supported by National Center for Advancing Translational Sciences - NIH, and Orphanet, an "IRDiRC Recommended" resource, have signed a collaboration agreement. This agreement will portray information from Orphanet to the GARD website, and vice versa - from GARD the Orphanet site whenever information about a specific disease is missing. Information from Orphanet will also become visible on the GARD website. In order to do so, an alignment of the specific diseases of the respective sites is being performed. Both rare disease portals will thus gain a wealth of information from this mutual exchange, for the benefit of patients and doctors overseas.
Visit the Orphanet website
Visit the GARD website


EU Policy News

The European Medicines Agency publishes it annual report 2015
The EMA has released its final report of its activities in 2015. The report highlights the key achievements, the current state of the initiatives introduced by them as well as the key figures that marked the previous year. THe report informs that 56.9% of the products that recieved a poistive opinion at the Commitee of Orphan Medicinal Products were nervous system products.

According to the report the 258 orphan designations were given in 2015, which was below than 2014, but higher than the previous years. Among the marketing authorisations provided, about 71% of the orphan medications would cater to the paediatric population as well.

The report highlights its collaborations with the United Stated and Japanese regulatory authorities as where in "one in three applications for orphan designation was submitted to EMA and to another regulatory authority in parallel in 2015."

They held a record of 163 pre-submission meetings to advise applicants on their request for orphan designation.

The support of the European Commission development of medicines for rare diseases was valuable as they provided 6.5 million euros in 2015 to the EMA for assisting in the various steps to marketing authorisation of these medicinal products .

While there was an increase in the number of requests for advanced therapy medicinal product (ATMP) classification in 2015 compared to 2014 (61 versus 28), it should be noted that more than one in five applications were for orphan designated medicines – one was for an ATMP.

The report also includes important statistics on the evaluation process as well as information on the involvement of experts, patients and healthcare professionals in scientific assessments.
Read the report

Small and Medium sized initiative of the EMA celebrates its 10th anniversary
The EMA also released its report on its small and medium-sized enterprises (SME) intiative, which marked its 10th anniversary in 2015. The aim of the initiative was to provide financial and administrative assistance to micro, small and medium-sized enterprises (SMEs) through a dedicated instrument, the SME Office, addressing the needs of smaller companies in the pharmaceutical sector. This is especially important for orphan medicinal products as a considerable number of important and innovative products in this area are produced by the SMEs.

While reviewing the 10 year experience, the report highlights that 42% of the products that have received a positive opinion are orphan medicinal products while 3% are advanced therapy medicinal products. In 2015, the number of protocol assistance for orphan drugs developed by SMEs represented 44% of all protocol assistance procedures.

The report also emphasises that the majority of products that received a positive opinion by the CHMP was authorised on the basis of article 8(3) of Directive 2001/83/EC and contained a new active substance. The report highlights that there was 75% success rate, between 2006-2014, for marketing authorisation for products sponsored by the SME applicants, clearly underscoring the success of the initiative.
Read the report


National & International Policy Developments
Other European news
Evaluation of the 2nd French national Plan for Rare Diseases : A mixed report but recommending a 3rd Plan
France was the first country to adopt a comprehensive national plan for rare diseases (2004-2008) which was very positively evaluated. A second plan was elaborated to consolidate the successful initiatives and add a few new ones (2011-2014). The conclusions of a thorough evaluation of this second plan, conducted in 2015, were just published.

The independent evaluation was conducted by two different bodies: the "HCSP- Haut Comité de la Santé Publique" for the public health aspects of the plan, and the " HCERES- Haut Conseil de l’Evaluation de la Recherche et de l’Enseignement Supérieur " for the research aspects, which issued two independent reports (in French only). They did not use exactly the same methodology but both combined an analysis of the available administrative reports and a hearing of key stakeholders (over 30 by committee). The main conclusions and recommendations are now presented by objective of the 2nd plan.

Objective: Improve care for patients with RD
The conclusion is that the two consecutive plans have led to a major improvement in the management of patients with RD through structuring specialised health care services. During the 1st plan, 131 national centres of reference and a network of regional centres of competence, linked to each of the national centres, were established. During the 2nd plan, networking between the centres was encouraged as a prequel to the European Reference Networks. All the national and regional centres were regrouped in 23 networks (Filières Maladies Rares) in order to mutualise resources and expertise and increase the visibility of the specialised care centres. The reports state that the specific missions of the components of the networks are not yet defined enough to lead to an efficient organisation. The appreciation process of the activity of the different centres and the labellisation process are also questioned. The financial support is not enough in relation with the volume of activity. In addition the research activity of the national centres is not part of what is assessed so far which is seen as something to be corrected in the future. The articulation of the activity of the centres with the social services is considered still sub-optimal.

The plan anticipated the production of 200 national clinical guidelines to promote good practices and reduce inequalities. Only 50 of them have been produced. Orphanet and the national helpline have played a significant role in better informing patients and healthcare professionals, which has certainly played a role in reducing the time to diagnosis. The reports suggest improve further the friendliness of the Orphanet website and to secure its funding.

Objective: Increase Research efforts in the field of rare diseases
The positioning of France in the contribution of theThe establishment of a National Repository of Patient Data (Banque Nationale Maladies Rares) was a new objective which is on its way but is not yet operational when it was supposed to be by the end of the plan. The National Repository was supposed to store data collected about patients referred to centres of Reference. What has been done so far is to agree on a minimum data set to be collected across diseases by every centre, to put in place the governance structure (steering committee and scientific advisory board), and to develop the infrastructure to collect these data elements. The centralisation of the data collection can now start.

The reports call for a better coordination between the national Repository of Patient Data and the National Cohorts for rare Diseases (RADICO) which have been funded for 10 years. The interoperability between the datasets should be ensured and a proper cooperation for the exploitation of the data should be set up.

The establishment of a Foundation for Scientific Cooperation to impulse a public-private partnership in research through a Foundation for Scientific cooperation, was also a new measure of the Plan. The Foundation was established but its budget to support research projects has stayed limited. Still the researchers appreciate this rather modest contribution. The Foundation has failed so far in playing a significant coordination role between funding sources and public-private initiatives have not yet developed. The reports call for a better definition of the objectives and deliverables.

The capacity of French research laboratories to access sequencing platforms is judged insufficient and a matter of concern. The recommendation is to increase the capacities of the labs in bioinformatics and to increase the collaboration between the research labs and the Centres of Reference.

The participation of France in the E-Rare initiative is considered strategic. The report recommends pursue the financial contribution.

Conclusion: toward a 3rd national Plan
The first French plan was visionary and contributed to the definition of the European policy and to the elaboration of national plans in other countries. Not all objectives are currently met when they should, as it takes time to reorganise, convince, disseminate, implement…. A 3rd plan is necessary to consolidate the initiatives, which proved to serve the best interest of patients. This new plan should take into account all the comments and recommendations of the two reports and should have a better governance than the 2nd plan. It is seen as mandatory to have both a strategic piloting at inter-ministerial level.

Cost of spinal muscular atrophy in Germany
This study in the Orphanet Journal of Rare Diseases analysed the "economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany." SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality.

The authors estimated that the average annual cost was €70,566 per patient in 2013, which was severity dependent. According to the authors the informal and indirect costs accounted for most of this estimation. Thus the authors note that therapies that resulted in a less severe phenotype could drive down the cost significantly.
Read the pubmed abstract

Impact of orphan drugs on Latvian budget
A study published in the "Orphanet Journal or Rare Diseases" aims to assess the budget impact of orphan drugs in Latvia from 2010 to 2014. The authors found that total 5-year expenditure EUR 12.467 million ranging from 2.065 to 3.065. They also report that "the three indications: Ph+ Chronic myeloid leukemia, Mucopolysaccharidoses II, and Pulmonary arterial hypertension accounted for nearly 90 % of the total orphan drug expenditure", and Glivec possessed the highest share of total orphan drug expenditure The authors believe that the budget impact of orphan drugs in Latvia is small and report dissatisfaction towards the orphan drug reimbursement system in the country.
Read the Open Access article

Other International News
Will the South American community suffering from Huntington's disease benefit from their contribution to research?
Huntington’s disease, which is caused by a mutation in one gene, is present around the world. It is thought to affect one in 10,000 people, mostly of European descent – but is most prevalent in pockets in Latin American countries, Colombia and Venezuela particularly, where it is thought to have arrived with European sailors who settled during colonisation. The Lake Maracaibo people of Venezuela, where the disease is the most prevalent has offered an important place to study the disease for researchers and pharmaceutical companies alike.

A truly poignant story about these people is written in the guardian.

This population has proved to be important for conducting clinical trials, and a search for a drug for HD is especially interesting for the pharma as HD is rare but not so rare and hence more profitable than other orphan drugs. Additionally the research community is also highly intrigued by what the community can offer. This is population where research into understanding the fundamentals of the disease as well as clinical trials, can be conducted.

The article also addresses the fact that if a drug finally come into fruition, there may not be available for this population who are below the poverty line and are unable to avail basic resources, let alone an orphan drug with a high price tag. The article also notes the contribution of Factor H, a humanitarian project for Huntington’s disease awareness in Latin America, whose work was reported in OrphaNews in early 2013. Founded by Ignacio Muñoz-Sanjuan (CHDI Foundation, Los Angeles, CA, USA), Factor-H is committed to improve the social conditions of Huntington’s disease in Latin America, who live in extreme “resource challenged” conditions, but ironically have also provided in-depth knowledge (particularly the Lake Maracaibo people of Venezuela) about Huntington’s disease.
Read the article in guardian
Read an article on this topic in The Lancet
Orphan drug expenditure in Canada: past and future
A study published in the Orphanet Journal of Rare Diseases provides information the total annual expenditure of orphan drugs and estimates future expenditure in Canada.

The authors report that between 2007 and 2013, expenditure of 147 orphan drugs represented 3.3– 5.6 % of total Canadian pharmaceutical drug expenditure, respectively. The authors also predicted that sales will remain under 6 % of total expenditure in 2014–18 period. The authors also highlight that also availability of the orphan drugs that are approved by the FDA is high, access to the medications remains problematic. They state their concern over the increasing prices of orphan drugs and believe that it could be unsustainable in the future.
Read the pubmed abstract

ECRIN’s celebration of the International Clinical Trials day

On May 20th ECRIN celebrated the International Clinical Trials day at Prague under the patronage of the president of the Czech Republic Senate.

The theme this year was "Clinical trials in the era of personalised medicine".

The event gathered European and international stakeholders involved in personalized medicine to set the scene, raise the challenges of personalized medicine especially in conducting clinical trials and discuss its future in healthcare management.

Personalised medicine emerged with the development of genomics and is an umbrella term used to cover a range of distinct concepts such as precision medicine (molecular characterization of diseases), stratified medicine (matching therapy with specific patient population characteristics using clinical biomarkers), and individualized medicine (mostly refers to using patients’ own cells). According to Council conclusions in personalized medicine for patients (2015/C 421/03), it refers to “a medical model using characterisation of individuals’ phenotypes and genotypes (e.g. molecular profiling, medical imaging, lifestyle data) for tailoring the right therapeutic strategy for the right person at the right time, and/or to determine the predisposition to disease and/or to deliver timely and targeted prevention”.

The implications of personalised medicine on clinical development are numerous: its raising the need for parallel identification/validation of panels of biomarkers, paired development of diagnostic and companion diagnostic tests, management of biobanks to determine personal omics profiles, novel clinical trial designs to cope with small samples resulting from patient stratification, testing of multiple drug candidates by using Bayesian methods of adaptive randomisation a “learn as you go” approach, transparency and integration of data from different sources, big data handling, ethical issues and personal data protection, as well as patient and doctors education. Therefore the success of clinical development in personalized medicine environment will require public/private collaborations and robust clinical trials networks.

By the end of the day it was agreed that personalised medicine is not a conceptual shift in the basic paradigm of medical care but an enrichment with a portfolio of modern tools, bringing accuracy and complexity to the clinical decision analysis tree and a holistic approach in patient care.
For further information

Guidance Documents and Recommendations
Cystic fibrosis: guidelines for preschoolers
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Pediatrics ; 137(4) ; April 2016Pediatrics ; 137(4) ; April 2016
Blepharospasm, cervical dystonia and adult spasticity: guidelines for the treatment with botulinum neurotoxin
Consult the Pubmed abstract
Neurology ; 86(19):1818-26 ; May 2016
Diffuse large B-cell lymphoma: guidelines for the management
Consult the Pubmed abstract
To read more about "Diffuse large B-cell lymphoma"

Br J Haematol. ; [Epub ahead of print] ; May 2016
Phaeochromocytoma and paraganglioma: guidelines for long-term follow-up of patients operated
Consult the Pubmed abstract
Eur J Endocrinol. ; 174(5):G1-G10 ; May 2016
Screening and Testing
A proposal for clinical follow-up for Duchenne Muscular Dystrophy newborn screening
Rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) has led to an interest for DMD newborn screening (DMD-NBS) in the United States. An article published in Muscle and Nerve by members of the Taskforce workgroup charged with developing detailed clinical guidance for following infants identified by DMD-NBS has provided recommendations on the clinical care that follows NBS referral. The authors aim to "provide “anticipatory guidance” for infants identified as having DMD or other muscle disorders." The authors have thus provided comprehensive materials for initial parent and primary care provided education after DMD is diagnosed by newborn screening.
Read the pubmed abstract


Ethical, Legal & Social Issues
ASHG decries changes to privacy laws in the Equal Employment Act in the United States
A press release by the American Society of Human Genetics (ASHG) opposing the newly revised regulation of the U.S. Equal Employment Opportunity Commission's (EEOC) under the Americans with Disabilities Act (ADA) and under the Genetic Information Nondiscrimination Act (GINA) has been published.

According to the Affordable Care Act in the United States, employers who have more than 40 employees have to provide health insurance to their employees. To this effect the ADA and GINA have been explicitly trying to prevent workers and their families from being coerced into sharing sensitive medical or genetic information with their employer, who are the payers of the insurance. For GINA, genetic information encompasses the genetic test results of the employees and their families.

Previously, the law to included that spouses' medical histories cannot be asked to be revealed. This would prevent employers from discriminating against employees because of the potential costs of their spouses' medical care.

However in a new ruling, employers can require that employees who choose to keep their and their spouses' health information private pay significantly higher health insurance premiums. This means that Americans could be forced to choose between access to affordable healthcare and privacy and can now coerce employees into providing the health information of their entire families.

ASHG condemns this move and believe that it is unethical and unfortunate.
Read ASHG press release

Parents of dymelia patients find support provided by maternity services after diagnosis inadequate
An article published in Women and Birth investigates whether maternity services provide adequate support to families when dysmelia is detected prenatally or postnatally using an online survey method. The authors asked whether signposting information - where contact details for organisations able to provide further information/support are provided - was made available to these families after diagnosis and whether it was important. The authors report that the respondents were generally less satisfied with the services rendered by the maternity services. According to the authors, even though most respondents would have wanted signposting information, but very few were provided with this information. The authors believe that provision of this information for parents of rare disease patients - dysmelia in this case - could have important implications for the families.
Read the pubmed abstract

Internet support groups: networking to get-working with parents of children with a rare disease
A study published in American Journal of Medical Genetics surveyed the experiences of the parents of children with Cornelia de Lange syndrome with internet support groups. The respondents reported that the helpfulness of these support groups in finding emotional support, information on medical care, as well as other day to day management issues. The authors thus highlight the role of internet networking for these families, when information and support maybe scarce, especially in the case of rare diseases.
Read the pubmed abstract

Intervention to facilitate family communication about inherited genetic conditions
The SPRing collaborative has developed a model of intervention to help families with an inherited genetic condition. According to an article published in they have "used the UK Medical Research Council’s guidance on Developing and Evaluating Complex Interventions, to work with families and genetic counsellors (GCs) to co-design this psycho-educational intervention. Modelled on multi-family discussion groups (MFDGs) used in psychiatric settings. Modelled on multi-family discussion groups (MFDGs) used in psychiatric settings, the authors describe how this intervention technique and the training manual for genetic counsellors were developed. According to the authors, designing this intervention method was a collaborative effort as they worked with parents, children, young people and health professionals to facilitate better communcation as well as coping strategies.
Read the pubmed abstract

End-of-life decision for newborns in the Netherlands
In the Netherlands there is a legal provision for euthanasia of newborns in the first year of life in extreme circumstances. Whether there was an increase in the frequency of end-of-life decisions since ultrasound examination around 20 weeks of gestation became routine in 2007 is assessed in a nationwide cross-sectional study published in The BMJ. The authors report that a majority of the deaths in 2010, were preceded by an end-of-life decision, which were mainly decisions "to withdraw or withhold potentially life-sustaining treatment". Only in 1% of cases drugs were admisntered to hasten death, a number which was much lower than the previous years. Thus the authors believe the introduction of routine ultrasound examination as well as the legal criteria that warrants deliberately ending life within 1 year, have led to the considerable reduction of these deaths.
Read the pubmed abstract

Rethinking the ethics of Biobanking
A paper published in Journal of Genetic Counselling discusses the nuances of informed consent and incidental findings. The paper reviews the two topics in detail and explores how these issues can be approached using a public health ethics viewpoint. The paper discusses the role of genetic counsellors, as well as identified areas for research that is currently needed.
Read the pubmed abstract

Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status
European Journal of Human Genetics has published a study analysing the hopes that are pinned on the results of whole exome sequencing (WES), in case of undiagnosed or unexplained conditions. According to the authors patients and parents of paediatric patients hoped to obtain information about "treating it, a diagnosis (ie, a name or label for the condition), and information about disease risk in family members." The authors also found that their the information that they hoped for differed and depended largely on their perception of their social and economic status. Patients that had a perceived high economic status hoped for information on how it would affect their familty, patients with low perceived economic status hope for information on treating the condition while middle level patients had varied information needs.
Read the pubmed abstract


New Syndromes

Syndromic overgrowth with macrocephaly, retinal coloboma and learning disabilities linked to homozygous FIBP nonsense variant in a unique case
In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense FIBP variant. The phenotype defines a new multiple congenital abnormalities syndrome, overlapping with the heterogeneous group of overgrowth syndromes with macrocephaly.
Consult the Pubmed abstract

Clin Genet. ; 89(5):e1-4 ; May 2016
Novel cortical brain malformation due to DMRTA2 mutation in three siblings
A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly. Autozygosity mapping and exome sequencing identified a homozygous novel deletion in DMRTA2.
Consult the Pubmed abstract

Clin Genet. ; 89(6):724-7 ; June 2016
Autosomal recessive leukoencephalopathy linked to autophagic defects caused by a founder mutation in VPS11 in five individuals
Using whole exome sequencing, the authors identified homozygosity for a missense variant in VPS11 as the genetic cause of a leukoencephalopathy syndrome in five individuals from three unrelated Ashkenazi Jewish families. All five patients exhibited highly concordant disease progression characterised by infantile onset leukoencephalopathy with brain white matter abnormalities, severe motor impairment, cortical blindness, intellectual disability, and seizures.
Consult the Pubmed abstract

PLoS Genet. ; 12(4):e1005848 ; April 2016

New Genes

Transient antenatal Bartter syndrome caused by MAGED2 mutations
Consult the Pubmed abstract
To read more about "Antenatal Bartter syndrome"

N Engl J Med. ; 374(19):1853-63 ; May 2016
Mayer-Rokitansky-Küster-Hauser syndrome associated with WNT9B missense mutations
Consult the Pubmed abstract
To read more about "Mayer-Rokitansky-Küster-Hauser syndrome"

Clin Genet. ; 89(5):590-6 ; May 2016
Joubert syndrome due to a novel HYLS1 homozygous mutation in living siblings
Consult the Pubmed abstract
To read more about "Joubert syndrome"

Clin Genet. ; 89(6):739-43 ; June 2016
Small cell lung cancer: SRSF1 identified as a key oncodriver
Consult the Pubmed abstract
To read more about "Small cell lung cancer"

PLoS Genet. ; 12(4):e1005895 ; April 2016
Hypokalemic periodic paralysis: CTD-2378E21.1 as novel susceptibility gene
Consult the Pubmed abstract
To read more about "Hypokalemic periodic paralysis"
To read more about "Thyrotoxic periodic paralysis"

Neurology ; 86(13):1190-8 ; March 2016
Nasopharyngeal carcinoma: MST1R as susceptibility gene
Consult the Pubmed abstract
To read more about "Nasopharyngeal carcinoma"

Proc Natl Acad Sci U S A. ; 113(12):3317-22 ; March 2016

Research in Action

Clinical Research
Maternal exposure to pregabalin may increase the risk of major birth defects
Consult the Pubmed abstract
Neurology ; [Epub ahead of print] ; May 2016
The risk of orofacial cleft is not significantly raised with lamotrigine use in pregnancy
Consult the Pubmed abstract
To read more about "Orofacial clefting syndrome"

Neurology ; 86(18):1716-25 ; May 2016
Amyotrophic lateral sclerosis: mexiletine is safe and reduces muscle cramp frequency and severity
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Neurology ; 86(16):1474-81 ; April 2016
Myoclonus-dystonia syndrome: zonisamide is well-tolerated and effective on motor symptoms
Consult the Pubmed abstract
To read more about "Myoclonus-dystonia syndrome"

Neurology ; 86(18):1729-35 ; May 2016
Hypokalemic periodic paralysis: dichlorphenamide is effective in reducing the attack frequency, is safe, and improves quality of life
Consult the Pubmed abstract
To read more about "Hypokalemic periodic paralysis"
To read more about "Hyperkalemic periodic paralysis"

Neurology ; 86(15):1408-16 ; April 2016
Inclusion body myositis: arimoclomol treatment is well tolerated but shows no significant evidence of efficacy
Consult the Pubmed abstract
To read more about "Inclusion body myositis"

Sci Transl Med. ; 8(331):331ra41 ; March 2016
Limbic encephalitis: rituximab is effective and safe as a second-line immunotherapy
Consult the Pubmed abstract
To read more about "Limbic encephalitis"

Neurology ; 86(18):1683-91 ; May 2016
Lyme disease: longer-term antibiotic treatment does not improve quality of life compared to shorter-term treatment
Consult the Pubmed abstract
To read more about "Lyme disease"

N Engl J Med. ; 374(13):1209-20 ; March 2016
Ebola haemorrhagic fever: administration of TKM-130803, an interfering RNA, does not improve survival
Consult the Pubmed abstract
To read more about "Ebola hemorrhagic fever"

PLoS Med. ; 13(4):e1001997 ; April 2016
Ebola haemorrhagic fever: favipiravir treatment is not recommended
Consult the Pubmed abstract
To read more about "Ebola hemorrhagic fever"

PLoS Med. ; 13(3):e1001967 ; March 2016
Low-grade glioma: longer overall survival with radiation plus procarbazine, lomustine, and vincristine compared to radiation alone
Consult the Pubmed abstract
N Engl J Med. ; 374(14):1344-55 ; April 2016
Multiple myeloma: the addition of ixazomib to a regimen of lenalidomide and dexamethasone is associated with significantly longer progression-free survival
Consult the Pubmed abstract
To read more about "Multiple myeloma"

N Engl J Med. ; 374(17):1621-34 ; April 2016
Myasthenia gravis exacerbation after discontinuing mycophenolate
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

Neurology ; 86(12):1159-63 ; March 2016
Fanconi anaemia: unusual form associated with lymphoid tumour development
Consult the Pubmed abstract
To read more about "Fanconi anemia"

PLoS Genet. ; 12(3):e1005945 ; March 2016
Therapeutic Approaches

Mitochondrial disease: hypoxia as a therapy in different animal models
Consult the Pubmed abstract
Science ; 352(6281):54-6 ; April 2016
Fragile X syndrome: nutlin-3 rescues neurogenic and cognitive deficits in a mouse model
Consult the Pubmed abstract
To read more about "Fragile X syndrome"

Sci Transl Med. ; 8(336):336ra61 ; April 2016
Duchenne muscular dystrophy: single CRISPR-Cas9 deletion strategy that targets the majority of patients restores dystrophin function in muscle cells
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Cell Stem Cell ; 18(4):533-40 ; April 2016
X-linked Charcot-Marie-Tooth disease type 1: intrathecal gene therapy rescues a mouse model
Consult the Pubmed abstract
To read more about "X-linked Charcot-Marie-Tooth disease type 1"

Proc Natl Acad Sci U S A. ; 113(17):E2421-9 ; April 2016
Protective effect of chorioamnionitis on the development of bronchopulmonary dysplasia triggered by postnatal systemic inflammation in neonatal rats
Consult the Pubmed abstract
To read more about "Bronchopulmonary dysplasia"

Pediatr Res. ; 79(2):287-94 ; March 2016
Retinopathy of prematurity: roxadustat prevents retinal oxygen toxicity whereas dimethyloxalylglycine does not in a mouse model
Consult the Pubmed abstract
To read more about "Retinopathy of prematurity"

Proc Natl Acad Sci U S A. ; 113(18):E2516-25 ; May 2016
Intrahepatic cholestasis: yinzhihuang, a traditional Chinese decoction, attenuates the disease in rats
Consult the Pubmed abstract
Pediatr Res. ; 79(4):589-95 ; April 2016
Treatment of allogeneic hematopoietic stem cell transplantation recipients with antibiotics may exacerbate graft versus host disease in the colon of humans and mice
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Sci Transl Med. ; 8(339):339ra71 ; May 2016
Pancreatic ductal adenocarcinoma: ablation of sensory neurons by neonatal capsaicin injection in a mouse model slows initiation and progression of cancer
Consult the Pubmed abstract
Proc Natl Acad Sci U S A. ; [Epub ahead of print]. ; February 2016
Glioblastoma: dual therapy using cediranib and MEDI3617 prolongs survival in mice
Consult the Pubmed abstract
To read more about "Glioblastoma"

Proc Natl Acad Sci U S A. ; 113(16):4470-5 ; April 2016
Diagnostic Approaches

Review on clinical implementation of non-invasive prenatal testing: technical and biological challenges
Consult the Pubmed abstract
Clin Genet. ; 89(5):523-30 ; May 2016
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test
Consult the Pubmed abstract
Clin Genet. ; 89(6):700-7 ; June 2016
Niemann-Pick disease type C: development of a bile acid-based newborn screen
Consult the Pubmed abstract
To read more about "Niemann-Pick disease type C"

Sci Transl Med. ; 8(337):337ra63 ; May 2016
Cornelia de Lange syndrome: the automated facial dysmorphology novel analysis technology recognises the syndrome phenotypes
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Clin Genet. ; 89(5):557-63 ; May 2016
Hepatic veno-occlusive disease: revised diagnosis and severity criteria
Consult the Pubmed abstract
To read more about "Hepatic veno-occlusive disease"

Bone Marrow Transplant ; [Epub ahead of print] ; May 2016
Neuromyelitis optica: evaluation of the 2015 diagnostic criteria
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

Neurology ; 86(19):1772-9 ; May 2016
Miller-Fisher syndrome: increased serum GQ1bAb highly specific for the disease
Consult the Pubmed abstract
To read more about "Miller-Fisher syndrome"

Neurology ; 86(19):1780-4 ; May 2016
ITM2B amyloidosis: pseudotumoural presentation
Consult the Pubmed abstract
To read more about "ITM2B amyloidosis"

Neurology ; 86(10):912-9 ; March 2016
Ebola haemorrhagic fever: GeneXpert Ebola assay on clinical venipuncture whole blood and buccal swab specimens has excellent diagnosis performance
Consult the Pubmed abstract
To read more about "Ebola hemorrhagic fever"

PLoS Med. ; 13(3):e1001980 ; March 2016
Progressive multifocal leukoencephalopathy: punctate pattern as a highly specific imaging feature
Consult the Pubmed abstract
To read more about "Progressive multifocal leukoencephalopathy"

Neurology ; 86(16):1516-23 ; April 2016

Patient Management and Therapy
Mitochondrial diseases: review on therapeutics
Consult the Pubmed abstract
Stem Cells ; 34(4):801-8 ; April 2016
Cystic fibrosis: Cochrane review on dornase alfa for the treatment
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 4:CD001127 ; April 2016
Cystic fibrosis: Cochrane review on oral non-steroidal anti-inflammatory drug therapy for lung disease
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 4:CD001505 ; April 2016
Sickle cell anaemia: Cochrane review on drugs for preventing red blood cell dehydration
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Cochrane Database Syst Rev. ; 3:CD003426 ; March 2016
Beta-thalassemia: Cochrane review on treatment for osteoporosis
Consult the Pubmed abstract
To read more about "Beta-thalassemia"

Cochrane Database Syst Rev. ; 3:CD010429 ; March 2016
Mucopolysaccharidosis type 1: Cochrane review on enzyme replacement therapy with laronidase
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 1"

Cochrane Database Syst Rev. ; 4:CD009354 ; April 2016
Mucopolysaccharidosis type 6: Cochrane review on enzyme replacement therapy with gasulfase
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 6"

Cochrane Database Syst Rev. ; 3:CD009806 ; March 2016
Buerger disease: Cochrane review on pharmacological treatment
Consult the Pubmed abstract
To read more about "Buerger disease"

Cochrane Database Syst Rev. ; 3:CD011033 ; March 2016
Multiple myeloma: Cochrane review on bortezomib for the treatment
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Cochrane Database Syst Rev. ; 4:CD010816 ; April 2016
Childhood sarcomas: review on immunotherapies
Consult the Pubmed abstract
Pediatr Res. ; 79(3):371-7 ; March 2016
Inherited disorders of bilirubin clearance: a review
Consult the Pubmed abstract
To read more about "Gilbert syndrome"
To read more about "Crigler-Najjar syndrome type 1"
To read more about "Crigler-Najjar syndrome type 2"
To read more about "Transient familial neonatal hyperbilirubinemia"
To read more about "Dubin-Johnson syndrome"
To read more about "Rotor syndrome"

Pediatr Res. ; 79(3):378-86 ; March 2016
Vogt-Koyanagi-Harada disease: review on pathophysiology, diagnosis and treatment
Consult the Pubmed abstract
To read more about "Vogt-Koyanagi-Harada disease"

Prog Retin Eye Res. ; 52:84-111 ; May 2016
Hereditary angioedema: review on treatment and guidelines
Consult the Pubmed abstract
To read more about "Hereditary angioedema"

Clin Rev Allergy Immunol. ; [Epub ahead of print] ; April 2016
Familial thoracic aortic aneurysm and aortic dissection: review on genetics and pathogenesis
Consult the Pubmed abstract
To read more about "Familial thoracic aortic aneurysm and aortic dissection"

Clin Genet. ; 89(6):639-46 ; June 2016
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis: a review
Consult the Pubmed abstract
To read more about "Non-immunoglobulin-mediated membranoproliferative glomerulonephritis"

Pediatr Nephrol. ; [Epub ahead of print] ; April 2016
Autoimmune liver diseases: review on classification, diagnosis and management
Consult the Pubmed abstract
To read more about "Chronic autoimmune hepatitis"
To read more about "Primary sclerosing cholangitis"

Dig Dis. ; 34(4):334-9. ; 2016
Zika virus disease: four reviews
Consult the Pubmed abstracts
To read more about "Zika virus disease"

N Engl J Med. ; 374(10):984-5 ; March 2016
Pediatrics ; 137(5) ; May 2016
N Engl J Med. ; 374(20):1981-7 ; May 2016
N Engl J Med. ; 374(16):1506-9 ; April 2016
Synovial sarcoma: a review
Consult the abstract
To read more about "Synovial sarcoma"

Clinical Oncology in Adolescents and Young Adults ; 6:21-26 ; April 2016
Carcinoma of esophagus: review on management
Consult the Pubmed abstract
To read more about "Carcinoma of esophagus"

Cancer Manag Res. ; 8:39-44 ; April 2016
Five updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Five updated GeneReviews have been published for:
Usher syndrome type I
Coffin-Siris syndrome
CEBPA-associated familial acute myeloid leukaemia
Succinic semialdehyde dehydrogenase deficiency


Orphan Drugs
An article and a report on the orphan drug pipeline in Europe and the United States

The orphan drug pipeline in Europe

An informative article published in Nature Reviews: Drug Discovery reported on the putative number of orphan drugs in the pipeline in Europe. The authors reviewed the 605 orphan designations granted between 2002 and 2012, across 21 therapeutic areas, in order to determine which of these drugs will be granted marketing authorisation in the near future. Among the granted orphan designations "oncology remained the most common therapeutic area, followed by neurology and haematology". The authors estimate approximately 90 ODs in this sample could reach marketing authorisation in the future and this number could increase to ~110 if Phase II pivotal studies were taken into account.

Notably, the study states that 254 of current ODs in the pipeline are held by small or medium-sized enterprises SMEs, highlighting their role of in orphan drug development.

They provided a table with Orphan designations granted , subdivided by therapeutic area. AND Orphan designations granted, subdivided by development stage.
Access the article

PhRMA reports on the progress on treatments in rare diseases in the United States

Another report issued by the Pharmaceutical Research and Manufacturers of America (PhRMA) and the ALS Association detailed the development of new medicines in the industry, including more than 560 treatments for patients with rare diseases. The report, titled “Medicines in Development for Rare Diseases,” details new medicines currently in development, including therapies for multiple myeloma, cystic fibrosis, amyotrophic lateral sclerosis (ALS) and enzyme deficiency disorders. Medicines currently in development include 151 for rare cancers and 82 for blood cancers, 148 for genetic disorders like cystic fibrosis and spinal muscular atrophy, 38 for neurological disorders, including ALS and seizures, 31 for infectious diseases, and 25 for autoimmune diseases. The report provides information on the medicines in development for rare diseases by therapeutic area and in which stage of development the drug is in currently. For a complete list of the 566 medicines in development, click here
Read the PhRMA report In related news, a report by the IMS Institute for Healthcare Informatics showed that payers in the US spent US$425 billion in 2015, an increase of more than 12% from 2014. The increased drug expenditure was due primarily to the launch of novel and innovative drugs, especially in the area of oncology.
Read the report

Possible reimbursement models for gene therapies
Gene therapies is generally a one-time treatment and in cases of rare diseases may pose a one-time cost, which is percieved to be very high. The first gene therapy Glybera is priced at around US$1 million per patient but has the potential to be an efficacious treatment and thus possibly cost-effective. An article published in Regenerative Medicine the authors discuss the challenges associated with gene therapies and provide payment models for sustainable reimbursement.

The payment models described by the authors include up-front payment, annuity-style payment, intellectual property-based payment, fund-based payment. They recommend annuity-style payment models for highly-priced gene therapies as it "ensure(s) widespread patient access, award innovation, spread costs and, if linked appropriately to health or social outcomes, limit financial risk. They acknowledge that changes will need to made to implement this kind of payment model in the current reimbursement system. They also advocate early engagement between manufacturers, regulators, payers and patients for increasing access.
Read the pubmed abstract



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

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

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

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

FDA providing USD 2 million in new grants for natural history studies in rare diseases
The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases. Deadline: 14 October, 2016
For further information

Call for Proposals (2016) for OI research (Osteogenesis Imperfecta)
The aim of this call is to (co-) fund projects that will generate better treatment of Osteogenesis Imperfecta (OI). Researchers responding to this call can come from any country. A wide range of treatment or research strategies will be considered. No area will be excluded as long as the quality of life of people with OI can be improved in a tangible and sustainable manner. All disciplines that contribute to the well-being of people with OI are invited to join. Creation of alliances and partnerships across national boundaries and medical institutions are explicitly welcomed. Submission deadline: 19th August 2016
For further information


Courses & Educational Initiatives

Courses offered by Recordati Rare Diseases Foundation
For further information on Recordati Rare Diseases please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrdfoundation.org/www.rrdfoundation.org.

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

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

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

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

MSc Programme (Blended) in Inherited Haemoglobin Disorders
This educational Programme is being launched in September 2016. It is a unique Programme, with its faculty including world‐renowned international experts. It is recognized globally and is supported by the European Haematology Association and the International Society of Haematology. You can find more information on the MSc Programme in the following link
Fifth International Chordoma Research Workshop
Date: 14-15 July, 2016
Venue: Boston, United States

The fifth International Chordoma Research Workshop (ICRW) will provide an opportunity to learn about the latest, unpublished developments in the field and advance thinking about the future of chordoma research. It will also provide a unique venue to interact and exchange ideas with a multidisciplinary group of peers from a variety of fields including basic, translational, and clinical research.
For further information

​ Courses offered by Centro Nazionale Malattie Rare
A. 4th International Summer School on Rare Disease and Orphan Drug Registries
Date: 26-28 September, 2016
Venue: Rome, Italy

This Summer School, endorsed by ICORD, will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology.
The course will provide participants with useful tools and methodologies to establish, manage and plan the activities of a registry with an overview of new approaches.

B) RD-Connect BYOD Workshop to Link RD Registries
Date: 29-30 September, 2016
Venue: Rome, Italy

The Workshop will be a hands-on experience, where the attendees work with experts to make their data Findable, Accessible, Interoperable, Re-usable (FAIR). The event will consist of preparatory webinars, brief plenary introductions and practical working groups.
For further information
Both events are open to health professionals, researchers, medical specialists, medical students, registries curators, database managers and representatives of patient associations, who are involved in or intend to establish a rare disease patient registry.
A selection process will be applied based on the participant's background and role with reference to registry activities.
For both initiatives the application deadline is: July 10, 2016.


What's on Where?

14th National Conference on Hydrocephalus
Date: 16-19 June, 2016
Venue: Minneapolis, United States

The goal of our conference is to provide resources and tools for navigating the medical, educational and social challenges of living with hydrocephalus.
For further information

ML4 Research Conference
Date: 19-21 June, 2016
Venue: Atlanta, United States

This meeting, open to all researchers engaged in basic, clinical and translational science pertaining to MLIV, has proven to be a collaborative and dynamic space for sharing current research about MCOLN1, channel function, disease pathology, translational efforts, clinical research, and more.
For further information

Rett Syndrome Symposium
Date: 22-24 June, 2016
Venue: Illinois, United States

This conference will include sessions of Fundamental Science, Translational and Clinical Research, and Neuro-Habilitation Research that will address the molecular, cellular and systems-level pathophysiology of Rett syndrome, potential treatment strategies and ongoing clinical trials and the Natural History study.
For further information

Advancing Rare Disease Drug Discovery: The Need for Successful Collaborations
Date: 23 June, 2016
Venue: London, United Kingdom

Participants will review examples of successful collaborations and discuss these questions in a 1-day complimentary forum where rare disease researchers will: network with foundations and industry leaders; share best practices; and review case studies of models for successful approaches to collaborative discovery programs.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

2016 Osteogenesis Imperfecta Foundation National Conference
Date: 22-24 July, 2016
Venue: Orlando, United States

More than 600 members of the OI community will come together for three days of specialized sessions on managing OI, free medical consultations and fun social events for attendees of all ages!
For further information

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

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

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

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

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

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

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

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

The XLH Symposium 2016
Date: 9 September, 2016
Venue: Paris, France

This event will represent a fantastic occasion for European researchers and clinicians to discuss and share experiences, as well as a good opportunity to initiate new partnerships and identify new research objectives.
For further information

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

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

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

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

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

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

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

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

4th International Conference on Oesophageal Atresia
Date: 15 -16 September, 2016
Venue: Sydney, Australia

The Conference program aims to lead to an improved understanding of Oesophageal Atresia, inspire development of innovative therapies, enhance local and international collaborations and help establish well de›ned evidence based standards of care for Oesophageal Atresia.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Cilia 2016
Date: 4-7 October, 2016
Venue: Amsterdam, The Netherlands

The EMBO Conference, Cilia 2016, will highlight both scientific and clinical progress, and uniquely integrate patient perspective.
For further information

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

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

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

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

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

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

27th International Conference on Spina Bifida and Hydrocephalus
Date: 28-30 October 2016
Venue: Ghent, Belgium

The ‘Turning Points’ conference will look back on developments in three key areas of activity – Prevention, Health and Care, and Community building. It will also look to the future to determine how we can redouble global efforts to reduce the overall occurrence of both spina bifida and hydrocephalus across all nations; to establish a basic right to care for all individuals born with these conditions, and to build a stronger, more vocal and effective global community of people united by the challenges of spina bifida and hydrocephalus.
For further information

The National Hereditary Hemorrhagic Telangiectasia Patient & Family Conference
Date: 28-30 October 2016
Venue: Boston, United States

The National HHT Patient & Family Conference, which takes place every two years, is an opportunity for Cure HHT to share information with patients and physicians so they can take the initiative to make informed decisions about the treatment and management of HHT.
For further information

International Primary Immunodefiencies Congress
Date: 8-10 November 2016
Venue: Dubai, United Arab Emirates

For further information

Commercial events

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

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

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

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


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

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

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

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