15 March 2014 print
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Strategy for Rare Diseases announced in England and Belgium releases their National Rare Disease Plan
NHS England released details of implementation plans for the first UK strategy for rare diseases, which was published by the Department of Health in 2013. In a Statement of Intent, NHS England sets out how it will deliver commitments from the strategy and develop services for rare diseases within the new framework for specialised services.

The UK Strategy for Rare Diseases contained a total of 51 commitments which all four countries have agreed to achieve by 2020. This is the first strategy of its kind, aiming to help build an understanding of rare diseases and boost research in this important area of healthcare.

Key elements of the strategy include:
• Personal care plans for patients, bringing together health and care services, with more support for patients and their families;
• Support for specialist clinical centres offering better care and support;
• Better education and training for health professionals to help ensure earlier diagnosis and access to treatment;
• Promotion of the UK as a world leader in research and development in this field.

The statement confirms increased representation of patients on the Clinical Reference Groups for specialised services, as well as the Rare Disease Advisory Group, where their views will be accounted to “improve and build upon patient involvement in rare disease service provision”. The statement also affirms the commitment of NHS England to providing education and training for health professionals so that they are well equipped to provide faster and accurate diagnosis as well as access to specialised services to patients. This includes “piloting and evaluation of ‘expert systems’ to support recognition and diagnosis of rare diseases, such as a computerised prompt service to help GPs to help GPs recognise potential rare disease symptoms”

Additionally, Public Health England (PHE), who are building a national rare disease register with NHS England, have emphasised “the success of the recently expanded NHS Newborn Blood Spot Screening programme in diagnosing the rare metabolic disorder MCADD; potential expansion of the programme to include more rare disorders is being piloted”.

England, Scotland, Wales and Northern Ireland released their plans for implementation of the UK rare diseases strategy by 28 February 2014 and held receptions in partnership with Rare Disease UK. A draft form of the Welsh Implementation Plan for Rare Diseases is currently open for consultation.
Read the Rare Disease Statement of Intent

Belgium, especially Orphanet Belgium, has been actively engaged in creating a Rare Disease Plan for Belgian patients. The plan was made public by the Belgian Minister of Health on the 6th of February 2014. The Belgian Plan for Rare Diseases consists of 20 actions, grouped into four domains, forming a comprehensive framework for managing care plan for patients affected by a rare disease, which include:

- Improved access to diagnostics and information to the patient
- Optimisation of care
- Knowledge and information
- Governance and Sustainability Plan

These actions were developed and selected based on their ability to be implemented as well as maintain a concrete impact on patient care in the field. For the implementation purposes, a total budget of € 15 million is allocated to each action. The plan is patient centric with direct implications for the diagnosis and care for the patient. The plan also includes collection as well as dissemination of knowledge. Since a high amount of quality research ( basic, translational, clinical, sociological ... ) is already being conducted within Belgium and there is a pause to see if international data can be joined together for a common framework, the current plan has no concrete actions recognised for research. Finally, this plan is not perceived as the end for advancing help for rare disease patients. To highlight this, a domain within the plan also outlines the creation of a dedicated team for continuous evaluation and monitoring of the implementation of the various actions. In addition, a separate working group within the Chronic observatory disease has also been established to monitor continuously 'unmet medical needs '
Read the Belgian plan in Dutch
Read the Belgian plan in French



Stephen Groft leaves a legacy of hard work and persistence promoting the cause of rare disease patients

Stephen Groft at the IRDiRC conference in Dublin, Ireland
Stephen C. Groft, Pharm.D., has been a strong voice for rare disease patients for more than 3 decades. He has now retired from his position at NIH after reinvogarating hope for rare disease patients and their families in US as well as providing them a collective voice. Throughout the 1980s, he has served in a variety of leadership roles to help advance the national research and drug development agendas for rare diseases, beginning with his support of the Orphan Drug Act (ODA) in 1983.

In 1995, Stephen Groft realised that scientists studying rare diseases often do so in isolation and unaware of each other’s work. Recognising the need for these researchers to collaborate and share knowledge, Groft and other ORDR staff initiated a scientific conferences program with the 27 Institutes and Centers (ICs) at NIH. Since then, more than 1,200 ORDR-supported research conferences and workshops have taken place. In early 2000, he contributed to research protocols to NIH’s ClinicalTrials.gov as well as collaborated with the National Human Genome Research Institute (NHGRI) to establish the Genetic and Rare Diseases Information Center. In 2003 he led ORDR’s efforts in establishing the Rare Diseases Clinical Research Network (RDCRN), which enabling collaborative, trans-NIH clinical research on causes, prevention, outcomes and treatments of rare diseases. By 2008, Stephen Groft, along with NHGRI, the NIH Clinical Center and other NIH ICs, helped create the trans-NIH, multidisciplinary Undiagnosed Diseases Program. He also led ORDR in joining the International Rare Diseases Research Consortium to encourage international collaboration in rare diseases research in 2012.

Stephen Groft has served as an important supporter of the scientific community working with rare disease patient advocates for over 3 decades. His work is a testament to the amount that can be achieved through sheer hard work and persistence, giving patient advocates the encouragement needed to be engaged in advocacy as well as the scientific process.

Stephen Groft has recently authored an editorial in the Orphanet Journal of Rare Diseases, which was published on the occasion of the 7th Rare Disease Day Celebration. The article titled "A past with uncertainty, a future with hope - rare disease day 2014 from a USA perspective”, reflected on the worldwide research accomplishments, orphan product approvals, and the commitments by the rare diseases community. In the editorial, Stephen Groft affirms “that the global rare diseases community remains strong and responsive to the voices and needs of patients, families, and clinicians awaiting diagnosis and treatment for their disease”.


Other European news
English version of German Rare Disease Plan now available

In keeping with the European Council recommendations, Germany has elaborated and adopted the National Plan for Rare Disease in September 2013, which will guide and structure actions in rare diseases within their health and social systems. An English version of this plan is now available on the NAMSE website.
Read the English version of German rare disease plan
Go to the NAMSE website
For further information

The Leibniz University of Hannover sets up a portal for rare diseases
The new information portal for rare diseases (Zipse) of the Leibniz University Hannover (LUH, Low er Saxony) has been launched. This project, conducted by the Centre for Research in Health Economics (CHERH) University, aims to provide people with rare diseases and their families a range of information and resources on diseases and their salaries. In Germany, nearly four million people suffer from rare diseases with around 30 million in the European Union. The platform Zipse offers a wide range of services to its users. In addition to disseminating information to patients, it also provides guidance to providers on diagnoses, treatments and therapies to offer. The site also aims to facilitate the relationship between people, sick relatives as well as medical personnel, to improve care in a specialized institution when necessary. The project receives financial support from the German Federal Ministry of Health (BMG), amounting to €750,000.
For more information(in french)
For further information contact Frank Martin, Centre Research in Health Economics

Editorial addressing the achievements of EUCERD and testimonials of past members
An Editorial by Ségolène Aymé and Charlotte Rodwell published in the “Orphanet Journal of Rare Diseases” provides information to the wider community about the activities by the EUCERD and European Commission that have strengthened liaisons at both European and international levels in the field of rare diseases. Following in the footsteps of EUCERD, the European Commission Expert Group on Rare Diseases assures to be a substantial success and for the rare disease community.
Read the Open Access article

At the end of its mandate members of the former EUCERD were proud and enthusiastic about the achievements of the committee and its legacy. In particular they appreciated the multi-stakeholder approach and the impetus this had given to the political process in the field of rare diseases. Below are some of the testimonials from past members of EUCERD
Ségolène Aymé, who chaired the committee during these years, said that she is “proud of what the committee was able to produce despite the wide range of cultural background of its members. What unified people were their consciousness of their responsibility in improving the national healthcare services through exchange of experience and agreement on standards of care.” “We set up a real community of people understanding better the point of view of the other stakeholders. We started to build a Europe for rare disease patients” she said.

Wills Hughes Wilson, an Industry representative, highlighted that the EUCERD was “a truly multi-stakeholder group, with representatives from across Europe, and from all different sectors has been highly constructive and highly productive”. She also underlined the unique opportunity provided by this bringing together of opinion in an area of real European added-value: “There are few areas where the added value of "Europe" can be so well-demonstrated and delivered on, as in the field of rare diseases. The inclusive nature of the EUCERD has meant that we have been able to build robust positions and recommendations that take into account all points of view and the contributions of all of the actors in this sector.” Summing up the experience shared by many of the Members, she stated that “it has been 3 years of hard work, collaboration, friendship and fun - proof that bringing people together with different expertise but a shared cause can truly deliver great results that will make a real difference for rare disease patients across the Union.”

Olaf Hiort, an expert representative, also praised the “enthusiasm” and “exceptional variety” of the members of the EUCERD which proved to be “a very valuable committee to bring together various aspects of structuring care for people with rare diseases”. He stressed the effective leadership of the Committee by Ségolène Aymé as one of the factors behind the “very constructive outcomes” of the work to date. Indeed, the Member State representatives from Germany took the opportunity to praise “the great support and excellent efficiency of the whole team of the scientific secretariat” in rendering the achievements of the EUCERD possible over the past few years.

Yann Le Cam, Vice-Chair of the EUCERD and Patient Representative, summing up the legacy of the Committee stated that “the EUCERD’s Recommendations on Quality Criteria for Centres of Expertise on Rare Diseases, on European Reference Networks and on Registries for Rare Diseases as well as on the Clinical Added Value for Orphan Medicinal Products have set the foundations to contribute to innovative, efficient and sustainable health systems so to address the shortages of human and financial resources while improving patients’ health outcomes.” Indeed, with so much achieved by the former EUCERD in a relatively short space of time, it is hoped that the Commission of Expert Group on Rare Diseases will be as efficient and productive in their new mandate. The EUCERD has laid down the foundations, but much more work is needed in the future so as to continue to advance in the key areas that have been identified as of importance for the rare disease community at large.



Other International News
A report on the 5th Pan Arab Human Genetics Conference Genomics into Healthcare
The joint 5th Pan Arab Human Genetics conference and 2013 Golden Helix Symposium, “Genomics into Healthcare” was co-organised by the Center for Arab Genomic Studies (CAGS) in collaboration with the Golden Helix Foundation in Dubai, United Arab Emirates from 17-19 November, 2013. The meeting was attended by over 900 participants, doctors and biomedical students from over 50 countries. It was organised into a series of nine themed sessions that covered cancer genomics and epigenetics, genomic and epigenetic studies, genomics of blood and metabolic disorders, cytogenetic diagnosis and molecular profiling, next generation sequencing, consanguinity and hereditary diseases, clinical genomics, clinical applications of pharmacogenomics and genomics in public health. The conference also included a workshop about Rd-CONNECT, which is a unique global infrastructure project that links up databases, registries, biobanks and clinical bioinformatics data used in research on rare diseases to act as central resource for researchers worldwide. Together with other two multicenter projects, namely Neuromics and EURenOmics, it allows scientists to share data from their genomics research projects leading to faster diagnosis, better treatments and quality of life improvement for patients with rare diseases.

Overall, the joint 2013 Golden Helix Symposium - 5th Pan Arab Human Genetics conference offered a highly valuable opportunity for Arab scientists to join forces with international geneticists in order to accelerate the advancement of human genetics worldwide. The importance of this event stemmed from bringing together multidisciplinary expertise with the goal of improving medical care.
For further information

A new opportunity for the diagnosis and therapy of rare diseases affecting the Central Nervous System in Germany
On 1 January 2014, a new specialised Centre for Rare Diseases was inaugurated in Wiesbaden, Hessen, Germany at the Horst Schmidt Klinik (HSK). This new opportunity is for patients affected by Rare Diseases, in particular those affecting the Central Nervous System. Located 30 km far from Frankfurt, the HSK offers all assessments needed to take adequate care for patients with multi-systemic diseases. The Center is part of the Children’s Hospital of the HSK and works in collaboration with all other Clinics of the HSK that are needed for the management of multi-systemic and progressive diseases. Besides organising a multidisciplinary rare disease team, the Center is aimed to facilitate speedy diagnosis, management and treatment for national and international rare disease patients. A major goal of this Center is to improve the quality of life of patients’ and their families as well as to be a meeting point for stakeholders. Furthermore, the Institute will host a basic and clinical research unit for neurological diseases such as neurometabolic and neurodegenerative disorders, inborn malformations and epileptic encephalopathies.

This Center will be integrated with the Brains For Brain Clinical Research Institute, and work as a joint venture with the Brains For Brain Foundation (www.brains4brain.eu) (B4B). The B4B Clinical Research Institute at the HSK will be the site for basic and applied research projects, organisation of clinical trials and educational programmes concerning Rare Diseases including presentations, seminars, meetings, journal clubs, scientific evenings etc. to increase awareness knowledge and interest in rare diseases. The Center also collaborates with the Network for rare diseases at the University of Magdeburg in order to follow the recommendations of the National Action Plan for Rare Diseases in Germany (published August 2013) for establishing a structure of certified centers. The network with other hospitals and the sharing of different expertise in the field of Rare Diseases will lead to a better and more specialized care of rare disease patients.

The HSK Center for Rare Disease and the Brains For Brain Clinical Research Institute represent an excellent of collaboration of expertise to create the critical mass needed to improve the management and the quality of life of rare patients. For more information please contact Prof. Maurizio Scarpa and/or Dr. Christina Lampe



Guidance Documents and Recommendations
Waldenström macroglobulinemia: guidelines on the diagnosis and management
Consult the Pubmed abstract
To read more about "Waldenström macroglobulinemia"

Br J Haematol. ; [Epub ahead of print] ; February 2014
Hereditary breast and ovarian cancer syndrome: three articles on the U.S. preventive services task force recommendation statement
Consult the Pubmed abstracts
To read more about "Hereditary breast and ovarian cancer syndrome"

Ann Intern Med. ; [Epub ahead of print] ; December 2013


Bioinformatics, Registries and Data Management

Lessons on data sharing from ENGAGE, a large research consortia
This is the day and age of massive data sharing occurring across continents - now considered a vital aspect for developing cutting-edge research – as it is not only becoming a requirement for funding, it is also encouraged by the international research community at large. To further understand and encourage data sharing, a paper published in European Journal of Human Genetics provides results from a survey conducted in the European Network for Genetic and Genomic Epidemiology (ENGAGE). In this study information about “factors that hinder or facilitate data sharing in these different situations” was collected from the participating institutions of ENGAGE. The detailed questionnaire helped the participants delve into concerns, hurdles, as well as the lessons learned and recommendations they would make for the future efforts. The authors reported that ENGAGE was successful in supporting data sharing activities. The article also highlighted the challenging areas that may present with obstacles for data sharing and recommendations to tackle these.
Read the open access article

Two articles published on the needs of rare disease registries with EPIRARE as a model
An article published in Public Health Genomics addresses the heterogeneous nature of rare disease registries as well as alternate strategies for the registration of rare disease patients. The article describes the project ‘Building Consensus and Synergies for the EU Registration of RD Patients’ (EPIRARE), funded by the EU, intended to define a model platform for EU RD registries. According to the authors “this web-based, multi-disease and multipurpose platform is intended to provide a number of functions: a metadata and data repository function supporting the planning of research studies and the production of predefined outputs for the funding organizations and the public, provision of tools and resources of use to registries, promotion of registration and networking among patients and professionals”.
Consult the Pubmed abstract

Another article by some of the same authors reported an inquiry by EPIRARE, by means of an on-line questionnaire, on the way European RD registries deal with methodological, technical and regulatory issues and the way they find resources to carry on their activities. The article informs that “ the needs more frequently indicated by registry holders were financial support, motivation of data providers, data quality assessment, improvement of communication and visibility, and extension of collaborations”. The authors believe that the current situation of the European registries provides the transition towards a more uniform, higher quality and better coordinated approach.
Consult the Pubmed abstract

EU Pancreas: an integrated approach for combating pancreatic cancer
An article published in Public Health Genomics describes the effectiveness of COST Action BM1204 in the context of Pancreatic Cancer (PC). The authors believe that the European funded Action has been advantageous for early-stage and established researchers as it has provided them with the potential to network and to advance their research efforts in the area of PC research. They also state that this “innovative and unique platform (for) collaborating and sharing information, ideas and experience” provides opportunities to researchers to integrate their knowledge-base and uniformly apply study tools and protocols, as well as increase mobility and training of researchers so as to be able to disseminate the results to the society at large. According to the authors, this Action aims to address concern associated with “aetiology, early detection; evidence based and personalised treatment, and health management for PC”. The authors maintain that the Action endeavours to enhance PC research in Europe by coordinating the activities internationally thus leading to therapeutic approaches for PC.
Consult the Pubmed abstract

The Moroccan Genetic Disease Database
In an article published in European Journal of Human Genetics, the authors introduce the Moroccan Genetic Disease Database (MGDD), that is a comprehensive genetic database of the diseases identified in the Moroccan population. The authors report that this “database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language” in a user-friendly interface. To catalogue the molecular data of inherited disorders found in the Moroccan population, the authors perused articles published in PubMed, Web of Science and Google Scholar until April 2013 to add to the database. Among the 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases recorded in the database, the authors report that “most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance and affect endocrine, nutritional and metabolic physiology”.

The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. It can benefit the human genetics researchers, clinicians and health professionals interested in a particular genetic disorder or gene to gather an overview of mutations reported in the Moroccan population as well as help designing the diagnostic tests to detect mutations in molecular diagnostic services, as well as the implementation of epidemiological approaches for estimating the prevalence of genetic diseases in the Moroccan or more general Arab population. Additionally, polymorphism data will be useful for the optimisation and design of genetic association studies. The MGDD provides relevant information not only to the local scientific community in Morocco but also to researchers in countries with similar ethnic backgrounds. The authors assure that the database will be continually updated with additional data from online submissions and literature searches, which can be publicly accessed at http://mgdd.pasteur.ma.
Consult the Pubmed abstract




Understanding informed consent by parents of children enrolled in a genetic biobank
Prior research suggests that parents undervalue long-term risks associated with their children’s participation in research studies. A study published in Genetics in Medicine aimed to evaluate parental understanding of informed consent for a paediatric biobanking study. The study population included parents who provided consent for their child to participate in a study examining the genetic aetiology of congenital cardiovascular malformations. The authors measured informed consent understanding by adapting the Quality of Informed Consent assessment to our study. They evaluated possible predictors of individual Quality of Informed Consent items using generalised estimating equations. A total of 252 individuals representing 188 families completed the study. The results showed that the Quality of Informed Consent items best understood by parents included consent to participate in research, the main purpose of the study, and the possibility of no direct benefit. The items least understood by parents were those involving the indefinite storage of DNA, the possible risks of participation, and the fact that the study was not intended to treat their child’s heart defect. It was also shown that parent age and medical decision making by one versus both parents were frequent predictors of individual Quality of Informed Consent items. The authors concluded that parents overestimate personal benefit and underestimate the risks associated with their child’s participation in a biobanking study.
Consult the Pubmed abstract

Evidence-based practice in Behçet’s disease: identifying areas of unmet need for 2014
Behçet’s Disease (BD) is characterised by a relapsing-remitting course, with symptoms of varying severity across almost all organ systems. There is a diverse array of therapeutic options with no universally accepted treatment regime, and it is thus important that clinical practice is evidence-based. An article published in Orphanet Journal of Rare Diseases presented an internet search of all literature describing management of BD up to August 2013, including pharmacological and non-pharmacological interventions. The authors recorded treatment options and investigated disease manifestations reported as primary and secondary study outcomes. Quality of data was assessed according to the Scottish Intercollegiate Guideline Network (SIGN) hierarchy of evidence. The authors note that whilst there is much literature describing treatment of ocular and mucocutaneous disease, there is little to guide management of rheumatoid, cardiovascular and neurological disease. This broadly reflects the prevalence of disease manifestations of BD, but not the severity. Biologic therapies are the most commonly investigated intervention. The proportion of SIGN-1 graded studies is declining, and there are no SIGN-1 graded studies investigating neurological or gastrointestinal manifestations of BD. This study identifies neurological, cardiovascular and gastro-intestinal disease as particular areas of unmet need and suggests that overall quality of evidence is declining. In conclusion the authors suggest that future research should be designed to address these areas of insufficiency to facilitate evidence-based practice in BD.
Read the open access article

Free diagnostic exome sequencing for 30 rare disease patients in US
The Global Genes Project, a non-profit rare disease advocacy organisation and Syndromes Without A Name USA (SWAN USA), another non-profit support organisation for patients with undiagnosed syndromes, are funding an initiative to provide 30 patients free whole exome sequencing. This diagnostic analysis, worth an estimated 3500- 5000 USD, will be available at the UCLA Clinical Genomics Center and the company Parabase Genomics. These organisations hope to raise further dedicated funding to support subsequent expansion of the programme. A multi-disciplinary committee was convened to select these programme delivery partners, but it is not explained how the patient participants were chosen.
For further information

Genes for childhood heritable diseases: past, present and future
A review published recently in Annual Review of Medicine, describe how genes causing rare heritable childhood diseases are being discovered at an accelerating pace driven by the decreasing cost and increasing accessibility of next-generation DNA sequencing combined with the maturation of strategies for successful gene identification. The review details how these findings are shedding light on the biological mechanisms of childhood disease and broadening the phenotypic spectrum of many clinical syndromes. The authors of the review also concede that thousands of childhood disease genes remain to be identified, and given their increasing rarity, this will require large-scale collaboration that includes mechanisms for sharing phenotypic and genotypic data sets. Nonetheless, genomic technologies are poised for widespread translation to clinical practice for the benefit of children and families living with these rare diseases. The authors believe that the future directions will include maintaining the pace of gene discovery for the increasingly rare diseases that remain will require large-scale collaboration. They also believe that advances in care for children with rare heritable diseases will require translation of genomic technologies to the clinic. Finally the review points out that although the majority of heritable childhood diseases still have no definitive treatment, advances in our understanding of the mechanisms for many diseases will provide therapeutic opportunities.
Consult the Pubmed abstract



Orphanet collaborates with START to enrich its encyclopedia with information on cancers
START is a state-of-the-art instrument to support clinical oncologists and physicians in their everyday oncology practice. It is a service provided by Alleanza Contro il Cancro (“Alliance against cancer”), under the auspices of the Italian Health Ministry. START articles, displayed into chapters, provide evidence-based information of current clinical approaches to human tumors. They are written by European experts, internally and externally reviewed, and regularly updated. Each chapter is available in English and some of them are also translated in Italian. In addition, some chapters dedicated to a more general audience (‘public area’) have been adapted in Italian.

START chapters can now be accessed on Orphanet through links made in the “detailed information” section at the bottom of the corresponding disease pages.
To know more about START




New syndrome of severe encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor
The authors identified a new severe form of encephalitis with refractory seizures, status epilepticus and antibodies to the GABAA receptor.
Consult the Pubmed abstract

Lancet Neurol. ; 13(3):276-86 ; March 2014
West syndrome associated with hyperphosphatasia and intellectual disability due to mutations in PIGW
A patient born to non-consanguineous parents presented hyperphosphatasia, intellectual disability and was diagnosed as having West syndrome. The patient was tested positive for glycosylphosphatidylinositol (GPI) deficiency due to PIGW mutations. Therefore, inherited GPI deficiencies should be considered in West syndrome.
Consult the Pubmed abstract

J Med Genet. ; 51(3):203-7 ; March 2014
Novel form of primordial dwarfism with distinct facies caused by homozygous truncating mutations in CRIPT
The authors reported two individuals with a novel syndrome of primordial dwarfism with distinct facies, each with a different homozygous truncating mutation in CRIPT.
Consult the Pubmed abstract

Genome Res. ; 24(2):291-9 ; February 2014
A new syndrome of congenital heart defects, brachydactyly, and mild intellectual disability is associated with de novo deletions in 14q24.1q24.3 in three patients
The authors reported on three unrelated patients with de novo deletions in 14q24.1q24.3. All three patients had mild intellectual disability, congenital heart defects, brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips.
Consult the Pubmed abstract

Am J Med Genet A. ; 164(3):620-6 ; March 2014
A newly recognised microdeletion syndrome caused by 9q31.1q31.3 deletion
The authors reported two similar de novo deletions involving the 9q31.1q31.3 region, in two monozygotic twins and one unrelated patient. The patients displayed a distinct clinical phenotype characterized by mild intellectual disability, short stature with high body mass index, thick hair, arched eyebrows, flat profile with broad chin and mild prognathism, broad, and slightly overhanging tip of the nose, short neck with cervical gibbus.
Consult the Pubmed abstract

Am J Med Genet A. ; 164(3):685-90 ; March 2014
Midline cleft of the upper and lower lip in a consanguineous family due to a homozygous deletion at 1p31
The authors described a consanguineous family with a unique form of orofacial clefting manifesting as a facial midline defect that also involves mandibular and maxillary structures. All four affected sibs had median clefts of the upper and lower lips, tooth misalignment and poor oral hygiene due to the homozygous 237-kb deletion at 1p31.
Consult the Pubmed abstract

Eur J Hum Genet. ; 22(3):333-7 ; March 2014



Bilateral perisylvian polymicrogyria: a deletion mutation in GPR56 selectively disrupts human cortex surrounding the Sylvian fissure
Consult the Pubmed abstract
To read more about "Bilateral perisylvian polymicrogyria"

Science ; 343(6172):764-8 ; February 2014
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures caused by AP1S2 mutation
Consult the Pubmed abstract
To read more about "intellectual disability, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures"

Eur J Hum Genet. ; 22(3):363-8 ; March 2014
Attenuated familial adenomatous polyposis associated with a novel AXIN2 germline variant
Consult the Pubmed abstract
To read more about "Attenuated familial adenomatous polyposis"
To read more about "Familial adenomatous polyposis"

Eur J Hum Genet. ; 22(3):423-6 ; March 2014
Benign adult familial myoclonic epilepsy due to ADRA2B in two Italian families
Consult the Pubmed abstract
To read more about "Benign adult familial myoclonic epilepsy"

Ann Neurol. ; 75(1):77-87 ; January 2014
West syndrome associated with de novo mutations in GRIN2B in two individuals
Consult the Pubmed abstract
To read more about "West syndrome"

Ann Neurol. ; 75(1):147-54 ; January 2014
Hereditary sensory and autonomic neuropathy type 1 with bone destruction caused by a mutation in ATL3
Consult the Pubmed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 1"

Brain ; 137(Pt 3):683-92 ; March 2014
Familial Parkinson disease associated with DNAJC13 mutations
Consult the Pubmed abstract
Hum Mol Genet. ; 23(7):1794-801 ; April 2014
Congenital myasthenic syndromes due to LRP4 mutations
Consult the Pubmed abstract
To read more about "Congenital myasthenic syndromes"

Hum Mol Genet. ; 23(7):1856-68 ; April 2014
Fatal multiple mitochondrial dysfunction syndrome linked to heterozygous missense mutations in LIPT1 in one patient
Consult the Pubmed abstract
To read more about "Fatal multiple mitochondrial dysfunction syndrome"

Hum Mol Genet. ; 23(7):1907-15 ; April 2014
Isolated succinate-CoQ reductase deficiency: first case due to recessive SDHD germline mutations
Consult the Pubmed abstract
To read more about "Isolated succinate-CoQ reductase deficiency"

J Med Genet. ; 51(3):170-5 ; March 2014
Microphthalmia, Lenz type caused by a splice donor mutation in NAA10 which results in the dysregulation of the retinoic acid signalling pathway
Consult the Pubmed abstract
To read more about "Microphthalmia, Lenz type"

J Med Genet. ; 51(3):185-96 ; March 2014
Hypertrophic cardiomyopathy is associated with a novel homoplasmic mitochondrial 16S rRNA 2336T>C mutation in maternal members of a Chinese family
Consult the Pubmed abstract
J Med Genet. ; 51(3):176-84 ; March 2014
Non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in MVK
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Ophthalmology ; 120(12):2697-705 ; December 2013
Early-onset ovarian epithelial tumors: INHBA and INHA mutations contribute to the determinism
Consult the Pubmed abstract
To read more about "Adenocarcinoma of ovary"

Hum Mutat. ; 35(3):294-7 ; March 2014
Retinal dystrophy is associated with a homozygous mutation in the TUB gene
Consult the Pubmed abstract
Hum Mutat. ; 35(3):289-93 ; March 2014
Supratentorial ependydomas contain oncogenic fusions between RELA and C11orf95
Consult the Pubmed abstract
To read more about "Ependymal tumor"

Nature ; 506(7489):451-5 ; February 2014
Fibrolamellar hepatocellular carcinoma linked to a recurrent DNAJB1-PRKACA chimeric transcript
Consult the Pubmed abstract
To read more about "Hepatocellular carcinoma"

Science ; 343(6174):1010-4 ; February 2014
Neural tube defect could be associated with missense mutations in LRP6
Consult the Pubmed abstract
To read more about "Neural tube defect"

Hum Mol Genet. ; 23(7):1687-99 ; April 2014
Isolated Hirschsprung disease: contribution of the mutations within SOX10 enhancers
Consult the Pubmed abstract
To read more about "Hirschsprung disease"

Hum Mutat. ; 35(3):303-7 ; March 2014
Congenital diaphragmatic hernia: contribution of mutations in GATA6, previously associated with pancreatic agenesis and congenital heart disease
Consult the Pubmed abstract
To read more about "Congenital diaphragmatic hernia"

J Med Genet. ; 51(3):197-202 ; March 2014
Distal Xq28 microduplication syndrome: increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients
Consult the Pubmed abstract
To read more about "Distal Xq28 microduplication syndrome"

Hum Mutat. ; [Epub ahead of print] ; December 2013





Clinical Research
Cerebral arteriovenous malformation: medical management alone is superior to medical management with interventional therapy for the prevention of death or stroke
Consult the Pubmed abstract
To read more about "Cerebral arteriovenous malformation"

Lancet ; 383(9917):614-21 ; February 2014
Glioblastoma: first-line use of bevacizumab or in association to radiotherapy-temozolomide did not improve overall survival in patients
Consult the Pubmed abstracts
Consult this study on Orphanet

To read more about "Glioblastoma"

N Engl J Med. ; 370(8):709-22, 699-708 ; February 2014
Clear cell renal carcinoma: dovitinib activity was no better than that of sorafenib
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Clear cell renal carcinoma"

Esophageal carcinoma: chemoradiotherapy with FOLFOX did not increase progression-free survival
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Esophageal carcinoma"

Lancet Oncol. ; 15(3):305-14 ; March 2014
Multiple system atrophy: rifampicin does not slow or halt the disease progression
Consult the Pubmed abstract
To read more about "Multiple system atrophy"

Lancet Neurol. ; 13(3):268-75 ; March 2014
Skeletal muscle fatty acid oxidation disorders: bezafibrate does not improve clinical symptoms or fatty acid oxidation during exercise
Consult the Pubmed abstract
To read more about "Carnitine palmitoyl transferase II deficiency"
To read more about "Very long chain acyl-CoA dehydrogenase deficiency"

Neurology ; 82(7):607-13 ; February 2014
Sézary syndrome and classical mycosis fungoides: lenalidomide therapy demonstrated activity in refractory cutaneous T-cell lymphomas, along with acceptable toxicity
Consult the Pubmed abstract
To read more about "Sézary syndrome"
To read more about "Classical mycosis fungoides"

Blood ; 123(8):1159-66 ; February 2014
Chronic granulomatous disease: anakinra treatment resulted in a rapid and sustained improvement in colitis
Consult the Pubmed abstract
To read more about "Chronic granulomatous disease"

Proc Natl Acad Sci U S A. ; 111(9):3526-31 ; March 2014
Melioidosis: trimethoprim-sulfamethoxazole (TMP-SMX) is not inferior to TMP-SMX plus doxycycline for the oral phase and is safer
Consult the Pubmed abstract
To read more about "Melioidosis"

Lancet ; 383(9919):807-14 ; March 2014
Acromegaly: pasireotide LAR demonstrated superior efficacy over octreotide LAR and is a viable new treatment option
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Acromegaly"

J Clin Endocrinol Metab. ; [Epub ahead of print] ; January 2014
Paroxysmal nocturnal hemoglobinuria: poor response to eculizumab
Consult the Pubmed abstract
To read more about "Paroxysmal nocturnal hemoglobinuria"

N Engl J Med. ; 370(7):632-9 ; February 2014
Kawasaki disease: low rate of adverse cardiovascular events through age 21
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Pediatrics ; 133(2):e305-11 ; February 2014


Stem Cells



Gene Therapy
Hurler syndrome: platelets are efficient and protective depots for storage, distribution, and delivery of lysosomal enzyme in mice model
Consult the Pubmed abstract
To read more about "Hurler syndrome"

Proc Natl Acad Sci U S A. ; 111(7):2680-5 ; February 2014
Amyotrophic lateral sclerosis: immunotherapy based on intrathecal inoculation of AAV encoding a secretable scFv against misfolded SOD1 should be considered as potential treatment
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Mol Ther. ; 22(3):498-510 ; March 2014
Charcot-Marie-Tooth disease type 1A: rAAV1.NT-3 therapy resulted in improvement in motor function, histopathology and electrophysiology in model mice
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 1A"

Mol Ther. ; 22(3):511-21 ; March 2014
Spinocerebellar ataxia type 1: broad therapeutic benefit after RNAi expression vector delivery to deep cerebellar nuclei
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 1"

Mol Ther. ; 22(3):588-95 ; March 2014
Hemophilia B: integration-deficient lentiviral vectors carrying an improved human FIX cDNA safely and efficiently cure the disease in a mouse model
Consult the Pubmed abstract
To read more about "Hemophilia B"

Mol Ther. ; 22(3):567-74 ; March 2014
Hepatocellular carcinoma: human allogeneic suicide gene-modified killer cells therapy demonstrates a marked, rapid, and sustained regression of the disease in mice
Consult the Pubmed abstract
To read more about "Hepatocellular carcinoma"

Mol Ther. ; 22(3):634-44 ; March 2014


Therapeutic Approaches

Retinitis pigmentosa: DENAQ restored visual function to blind mice with a photoswitch that exploits electrophysiological remodeling of retinal ganglion cells
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Neuron ; 81(4):800-13 ; February 2014
Retinal degeneration: suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models
Consult the Pubmed abstract
To read more about "Cone rod dystrophy"
To read more about "Leber congenital amaurosis"
To read more about "Achromatopsia"

Proc Natl Acad Sci U S A. ; 111(9):3602-7 ; March 2014
Epidermolysis bullosa simplex with muscular dystrophy: treatment with 4-phenylbutyrate ameliorates the pathological phenotypes in plectin-deficient myotubes and mice
Consult the Pubmed abstract
To read more about "Epidermolysis bullosa simplex with muscular dystrophy"

J Clin Invest. ; [Epub ahead of print] ; February 2014
Amyotrophic lateral sclerosis: LDN/OSU-0212320, a pyridazine derivative, delayed motor function decline and extended lifespan in mice model
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

J Clin Invest. ; 124(3):1255-67 ; March 2014
Late infantile neuronal ceroid lipofuscinosis: intravenous administration of TPP1 increases lifespan and improves neurological function in a mouse model
Consult the Pubmed abstract
To read more about "CLN2 disease"
To read more about "Late infantile neuronal ceroid lipofuscinosis"

Mol Ther. ; 22(3):547-53. ; March 2014
Glioblastoma: stage-specific embryonic antigen-4 as a potential therapeutic target in mice
Consult the Pubmed abstract
To read more about "Glioblastoma"

Proc Natl Acad Sci U S A. ; 111(7):2482-7 ; February 2014
CpG island methylator phenotype-positive hindbrain ependymomas are responsive to clinical drugs that target either DNA or H3K27 methylation both in vitro and in vivo
Consult the Pubmed abstract
To read more about "Ependymal tumor"

Nature ; 506(7489):445-50 ; February 2014
Precursor T-cell acute lymphoblastic leukemia: c-Myc inhibition prevents leukemia initiation in mice and impairs the growth of relapsed and induction failure pediatric T-ALL cells
Consult the Pubmed abstract
To read more about "Precursor T-cell acute lymphoblastic leukemia"

Blood ; 123(7):1040-50 ; February 2014
Autoimmune lymphoproliferative syndrome-like phenotypes: treatment of MRLlpr/lpr mice with anti-IL-17A antibodies decreases the severity of the disease
Consult the Pubmed abstract
To read more about "Autoimmune lymphoproliferative syndrome"

Blood ; 123(8):1178-86 ; February 2014
Pulmonary arterial hypertension: the polymerase inhibitor ABT-888 reversed the disease in two experimental rat models
Consult the Pubmed abstract
To read more about "Pulmonary arterial hypertension associated with another disease"
To read more about "Pulmonary venoocclusive disease"
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Circulation ; 129(7):786-97 ; February 2014


Diagnostic Approaches

Genetic macular dystrophy: overview of overlapping and distinguishing clinical features
Consult the Pubmed abstract
To read more about "Genetic macular dystrophy"

Prog Retin Eye Res. ; 39C:23-57 ; March 2014
Marfan syndrome: ectopia lentis and aortic dilatation are the best discriminating features
Consult the Pubmed abstract
To read more about "Marfan syndrome"

Genet Med. ; 16(3):246-50 ; March 2014
Suggestion of performing familial Mediterranean fever genetic testing for patients presenting with rare/uncommon symptoms also common in other disorders
Consult the Pubmed abstract
To read more about "Familial Mediterranean fever"

Genet Med. ; 16(3):258-63 ; March 2014
Lysosomal disease: relative acidic compartment volume may be a useful biomarker to aid diagnosis, clinical monitoring, and evaluation of therapeutic responses
Consult the Pubmed abstract
To read more about "Lysosomal disease"

J Clin Invest. ; [Epub ahead of print] ; February 2014
Ehlers-Danlos syndrome, hypermobility type: lack of consensus on tests and criteria
Consult the Pubmed abstract
To read more about "Ehlers-Danlos syndrome, hypermobility type"

Am J Med Genet A. ; 164(3):591-6 ; March 2014
Arthrogryposis multiplex congenital: overview of clinical signs
Consult the Pubmed abstract
To read more about "Arthrogryposis multiplex congenita"

Am J Med Genet A. ; 164(3):700-30 ; March 2014


Chondrosarcoma: an overview of current and future treatment options
Consult the abstract
To read more about "Chondrosarcoma"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 217-227 ; March 2014
AL amyloidosis: an evaluation of current treatment options
Consult the abstract
To read more about "AL amyloidosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 229-244 ; March 2014
Cryptococcosis: future strategies for the treatment of pediatric patients
Consult the abstract
To read more about "Cryptococcosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 245-257 ; March 2014
Malignant hyperthermia: current strategies for effective diagnosis and management
Consult the abstract
To read more about "Malignant hyperthermia"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 259-269 ; March 2014
Systemic sclerosis: review on treatment options
Consult the abstract
To read more about "Systemic sclerosis"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 271-282 ; March 2014
Pulmonary hypertension: inhaled treprostinil sodium should be limited to use as add-on therapy for patients not effectively controlled on oral therapy
Consult the abstract
To read more about "Pulmonary arterial hypertension"
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 283-291 ; March 2014
Lambert-Eaton myasthenic syndrome: review of amifampridine for the treatment
Consult the abstract
To read more about "Lambert-Eaton myasthenic syndrome"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 3 , Pages 293-300 ; March 2014
Homozygous familial hypercholesterolemia: review on lomitapide and mipomersen
Consult the Pubmed abstract
To read more about "Homozygous familial hypercholesterolemia"

Circulation ; 129(9):1022-32 ; March 2014
Fibromuscular dysplasia of arteries: state of the science and critical unanswered questions
Consult the Pubmed abstract
To read more about "Fibromuscular dysplasia of arteries"

Circulation ; 129(9):1048-78 ; March 2014
Systemic-onset juvenile idiopathic arthritis: review on advances in the pathogenesis and treatment
Consult the Pubmed abstract
To read more about "Systemic-onset juvenile idiopathic arthritis"

Pediatr Res. ; 75(1-2):176-83 ; January 2014
Genetic dementia: a review
Consult the Pubmed abstract
To read more about "Genetic dementia"

Lancet ; 383(9919):828-40 ; March 2014
Sex chromosome aneuploidies: a review on cognitive and neurological aspects
Consult the Pubmed abstract
To read more about "Turner syndrome"
To read more about "Klinefelter syndrome"
To read more about "47,XYY syndrome"

Lancet Neurol. ; 13(3):306-318 ; March 2014
Hemophilia: detection and aggressive treatment of cardiovascular risk factors is mandatory
Consult the Pubmed abstract
To read more about "Hemophilia"

Blood ; 123(9):1297-301 ; February 2014
Five new Clinical Utility Gene Card published in the European Journal of Human Genetics
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
The European Journal of Human Genetics has published five new Clinical Utility Gene Card for:
Maturity-onset diabetes of the young
Oculocutaneous albinism
Phosphomannose isomerase deficiency
Transient neonatal diabetes mellitus, 6q24-related
Williams–Beuren syndrome



Regulatory News
VIMIZIM (elosulfase alfa) receives a positive opinion by CHMP for the treatment of mucopolysaccharidosis, type IVA
On 20 February 2014, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a marketing authorisation for the medicinal product Vimizim, 1 mg/ml concentrate for solution for infusion intended for treatment of mucopolysaccharidosis, type IVA (Morquio A Syndrome, MPS IVA), a medicinal product by BioMarin Europe Ltd. Vimizim was designated as an orphan medicinal product on 24 July 2009.
Read the summary of opinion on the EMA website

13 positive opinions recommending orphan designation at the February 2014 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted fifteen positive opinions issued at the February 2014 COMP meeting for:

- the prevention of bronchopulmonary dysplasia
- the treatment of pancreatic cancer
- the prevention of graft rejection following solid organ transplantation (2 medicinal products)
- the treatment of ATTR-amyloidosis
- the treatment of glycogen storage disease type II (Pompe's disease)
- the prevention of bronchopulmonary dysplasia
- the treatment of Leber’s congenital amaurosis
- the treatment of nontuberculous mycobacterial lung disease
- the treatment of recombination-activating gene 1 deficient severe combined immunodeficiency
- the treatment of soft tissue sarcoma
- the treatment of Charcot-Marie-Tooth disease type 1A
- the treatment of acute myeloid leukaemia

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
Examining the life cycles of gene therapy technologies to understand why commercialisation of gene therapy has stalled
An article published in Gene Therapy examines the commercialisation of gene therapy in the context of innovation theories that posit a relationship between the maturation of a technology through its life cycle and prospects for successful product development. The authors contend that the field of gene therapy has matured steadily since the 1980s. The article reports an accumulation of 435 000 papers, 416 000 US patents, 41800 clinical trials and 4$4.3 billion in capital investment in gene therapy companies. Gene therapy technologies comprise a series of dissimilar approaches for gene delivery, each of which has introduced a distinct product architecture. Using bibliometric methods, the authors quantified the maturation of each technology through a characteristic life cycle S-curve, from a Nascent stage, through a Growing stage of exponential advance, toward an Established stage and projected limit. The results show that capital investment in gene therapy is shown to have occurred predominantly in Nascent stage technologies and to be negatively correlated with maturity. The authors maintain that gene therapy technologies are now achieving the level of maturity that innovation research and biotechnology experience suggest may be requisite for efficient product development. In conclusion the authors report that an asynchrony between the maturation of gene therapy technologies and capital investment in development-focused business models may have stalled the commercialisation of gene therapy.
Consult the Pubmed abstract




The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
The Erdheim-Chester Disease Global Alliance is interested in receiving Letter of Intents for any study that can lead to an increase of knowledge related to the etiology, pathophysiology, diagnosis or treatment of Erdheim-Chester Disease. Upto a 100,000 USD will awarded to a maximum of 2 grants for projects that focus on areas that include development and implementation of an ECD patient registry, clinical trials related to treatment of ECD, improving the quality of life for ECD patients, simplifying diagnosis of ECD, understanding the pathobiology and molecular mechanisms of the disease. All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit before 1 April, 2014.
For further information

DEBRA International research grants
This grant aims to
• Improve our 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
The deadlines for application submissions are normally twice per year, on 15th February or March and 15th September. Decisions on funding applications from these calls will normally be made in June and December, respectively.
However, details of calls and submission dates can vary from year to year, so always check this page



Group leader positions in the Imagine Institute of Genetic Diseases
The new Imagine Institute of Genetic Diseases, affiliated with the Necker Enfants maladies Hospital campus Paris, is inviting applications for group leader positions. Imagine is an interdisciplinary research center with excellent core facilities for genomics, cell imaging, flow cytometry, bioinformatics, pathophysiology and animal housing for transgenic mice and zebra fish. The new tailor-made building (to be opened in early January 2014) will offer cutting-edge research facilities. The Institute focuses on rare diseases, their genetic architecture and life-long outcomes. Imagine intends to address unmet basic and clinical research questions related to rare diseases, in order to increase knowledge in a major medical field that is currently insufficiently covered. This will result in the development of new biological concepts, diagnostic tools and innovative therapeutics. Applications can focus on any field directly linked or related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on:
1- Development, stem cells and neuroscience.
2- Computational biology and/or bioinformatics.
Applications in these two areas will be separately evaluated. Appointments will be made at a junior or senior level, depending on experience. Applications should be submitted to Professor Alain Fischer before May 15 2014 Further information can be found at
www.institutimagine.org or email newgroups@institugimagine.org

Head of the research unit for genodermatoses
DEBRA Austria seeks a head of the research unit at the EB House Austria, with specialisation in genodermatoses.
The ideal candidate will have the following qualifications
• Held/hold a leading position in a research setting for at least 5 years.
• A natural science and/or medical background and a record of research in the field of genodermatoses.
• Fulfil this position as an organisational lead of a research unit, including issues of staffing and finances.
• Experience and record in acquiring third-party funding is excellent.
• Familiar with basic research and translational aspects, and ready to bring promising therapeutic approaches further to the clinic.
• Take care of IP rights and exploitation issues, and to establish contact with an IP expert as counsel.
• Strong interest in sharing knowledge and ideas with colleagues and stakeholders from the scientific and rare disease community, and are willing to participate in relevant conferences and events.
• Bring across complex scientific matters to lay people – e.g. patients and their families – so they are able to understand the basic principles of your research.
Desirable qualities/ qualifications
• Experience with IP rights and technology exploitation are an asset.
• Preferably, you have experience in undertaking and leading on clinical studies. • A management degree is an asset.
TO APPLY Please send in your application by e-mail to office@debra-austria.org. Applications should include: Application letter, CV, Short outline of your field(s) of research, for a lay audience, Publications record. Please contact Dr. Rainer Riedl, chairman of DEBRA Austria, at +43-1-876 40 30-15 if you have any questions. Closing date: Monday, March 10th, 2014




European Cytogeneticists Association Courses
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2014 course is now available. For Further details
The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 7-9 May 2014
Venue: London, UK

Aimed at both paediatric and adult metabolic specialist and traineess, this course will discuss issues and address a number of specific controversies in the management of older patients with IMDs.
For further information

5th ESO-SIOP Europe Masterclass in paediatric oncology
Date: 17-22 May 2014
Venue: Ljubljana, Slovenia

ESO and SIOP-Europe are pleased to announce the fifth Masterclass in Paediatric Oncology. This clinically-oriented educational programme has been designed for young paediatric oncologists who wish to improve their skills in clinical management of common childhood tumours. It is designed to offer a unique learning experience, providing practice-oriented training and the teaching sessions will focus on the application of the most recent research findings to clinical practice. Application deadline: 3 February 2014. Information, detailed programme and application form available at www.eso.net

radiz - Rare Disease Initiative Zurich
Date: 14-16 July 2014
Venue: Zurich, Switzerland

The 2nd radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases.
Further Information

Dysmorphology and Radiology of Inborn Errors of Metabolism
Date: 16-17 October 2014
Venue: Manchester, UK

The topics covered will be of interest to clinicians who deal with rare disorders or have an interest in clinical genetics, IEMs or Paediatrics. It is expected that participants will have some background knowledge of the field although extensive experience is not required. Participants are strongly recommended to bring interesting, unusual or unsolved cases.
For further information




The 9th International Congress on Autoimmunity
Date: 26-30 March, 2014
Venue: Nice, France

This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
For further details

8° International Conference of European Chromosome 11
Date: 27-30 March, 2014
Venue: Pforzheim-Hohenwart, Germany

For further details

Gene, Cell and Molecular Therapies for Inherited Metabolic Disease
Date: 27 March, 2014
Venue: London, UK

The aim of this meeting is to establish and encourage a closer interface between clinicians and scientists with the goal of translating gene therapy and novel technologies into clinical treatment of inherited metabolic disorders to UK patients at the earliest opportunity.
For further information

2014 Lymphangioleiomyomatosis International Research Conference
Date: 28-30 March, 2014
Venue: Chicago, USA

The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
For further details

International Meeting on Fibrodysplasia Ossificans Progressiva, 2014
Date: 4-5 April 2014
Venue: Genova, Italy

The 8th International Meeting on Fibrodysplasia Ossificans Progressiva (FOP) organized by the FOP Italia Association will take place in Genova with the participation of scientists from European and American countries who will discuss pathogenic mechanisms of FOP as possible targets for treatments. Representatives of patients associations from several countries and individual patients and families will also participate.
For further information go to fopilatia.it or www.cisef.org

7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

EUROPLAN National Conferences Spain
Date: 6 June, 2014
Venue: Madrid, Spain

Organised by FEDER; the Spanish Alliance for Rare Diseases

2014 ICCG Conference
Date: 11-12 June 2014
Venue: Maryland, US

International Collaboration for Clinical Genomics (ICCG) is creating a universal, clinical-grade database of genomic variation (including structural and sequence variants), available to the public through resources such as NCBI's ClinVar database, and much more. For this conference ICCG encourage the attendance of clinical laboratory personnel (from both cytogenetics and molecular communities), clinicians, genetic counsellors, and others that are interested in setting the standards for clinical-grade databases of genomic variation.
For further information

LGDA Patient – Family Conference
Date: 13-14 June 2014
Venue: Texas, U.S.

The Lymphangiomatosis & Gorham's Disease Alliance (LGDA) will hold its inaugural Patient - Family Conference. This milestone event will bring patients, families, and experts in the field from around the world together for the very first time on June 13 & 14, 2014, at the Sheraton Suites Market Center in Dallas, Texas, U.S. For details about the conference visit the website.

Euromit 2014 - International Meeting on Mitochondrial Pathology
Date: 15–19 June, 2014
Location: Tampere, Finland

Euromit 2014 will be the 9th in a series of international conferences dedicated to understanding mitochondrial disease. The conference will bring together leaders of the field as well as many young talents. The organisers expect that around 700 molecular scientists, clinicians and representatives of the healthcare industry to attend.
For further information

Day To Day With SMA
Date: 28–29 June, 2014
Location: Warwickshire, UK

A day of information, workshops and opportunities to share experiences. Conference sessions are open to anyone aged 16 years + unless otherwise specified. Refreshments and lunch are provided as well as childcare activities for children and young people aged 0 - 15.
For further information

13th International Congress on Neuromuscular Diseases - ICNMD 2014
Date: 5-11 July, 2014
Venue: Marseille, France

The XIII ICNMD experts will come together to share knowledge and experiences in the field of neuromuscular diseases. Physicians and scientists, involved in the diagnosis and care to the most updated research in basic mechanisms and therapeutic approaches in the theme will greatly benefit.
For further details

Phenotype Day: joint iniative with BioLink and BioOntologies special interest groups
Date: 12 July, 2014
Venue: Massachusetts, US

Jointly developed by the Bio-Ontologies and BioLINK special interest groups, the Phenotype Day will bring researchers together from different disciplines to share information about phenotype resources and issues as well as experiences with defining, representing, processing and using phenotype data.
For further details

16th International Conference on Behçet’s Disease
Date: 18–20 September, 2014
Venue: Paris, France

The conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Update on new therapeutic strategies will be presented and challenging issues will be discussed. They have planned to invite distinguished lecturers notably in the field of innate immunity.
For further information

3rd International Conference on Immune Tolerance 2014
Date: 28-30 September, 2014
Venue: Amsterdam, The Netherlands

The Third International Conference on Immune Tolerance will bring together international delegates to share their latest research and insights into the mechanisms and treatment of many conditions, most notably in transplantation, autoimmune diseases, inflammation and cancer.
For Further Information

The Translational Science of Rare Diseases: From Rare to Care II
Date: 8-10 October, 2014
Venue: Herrenchiemsee, Germany

The meeting will bring together high-profile scientists from around the world and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies. This conference will bring together a number of high profile speakers active in the field of rare disease research and translational medicine.
For further information

14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Date: 22-25 October, 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease
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 which was attended by 400 participants. The congress will be a two-day programme and is opened to all stakeholders with an interest in the clinical management of primary immunodeficiencies (PIDs).
For Further Information

Commercial events

The Commercialisation of Orphan & Rare Disease Drugs 2014
Date: 20–21 March, 2014
Venue: London, UK

This forum provides a unique opportunity to meet, network and hear from acknowledged industry experts. Discover untapped revenue streams in the blockbuster market - increase your bottom line and ensure the commercial success of your organisation. Explore the latest trends in pricing and reimbursement, and more importantly what lies beyond – from optimal business models to improving your marketing and sales strategy.
For further information

World Orphan Drug Congress USA
Date: 23 – 25 April, 2014 Venue: Washington D.C., U.S. The 4th annual World Orphan Drug Congress USA is dedicated to fostering partnerships and collaboration. It is about expediting orphan drug development and articulating its value, from discovery to patient access, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

Stem Cell Commercialization & Partnering Conference
Date: 23–25 April, 2014
Venue: Boston, U.S

This forum presents information regarding cutting-edge developments in all areas of stem cell research including the biology, medicine, applications, regulations and business of stem cells. This track focuses on the business opportunities, challenges and potential strategies for overcoming them.
For further information

9th World Stem Cells & Regenerative Medicine Congress
Date: 20–22 May, 2014 Location: London, UK In this event pharma, biotech, academia and investors join together and which is a medium for biotechs and academia to get their research noticed.
For further information

The World Orphan Drug Congress Asia 2014
Date: 10-11 June 2014
Venue: Singapore

The World Orphan Drug Congress Asia 2014 focuses on fostering partnerships and relationships between industry, governments, payers, investors and patients as well as to expedite orphan drug development and articulating its value, from discovery to clinical development, to license, to manufacturing, to launch and to sustainability of supply, so that manufacturers are guaranteed full and speedy reimbursement.
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: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)