1 April 2014 print
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Editorial
 
Worldwide Orphan Medicinal Designation Workshop: an enlightening experience
 

A workshop on orphan product designation and grants took place on 10 March 2014 at the European Medicines Agency (EMA). Jointly organised by the EMA, the US Food and Drug Administration (FDA) and for the first time the Japanese Ministry of Health, Labour and Welfare (MHLW) and Pharmaceuticals and Medical Devices Agency (PMDA), this one day workshop was an effort towards bringing more treatments for rare disease patients faster.

This one-of-a-kind workshop brought together the regulatory authorities from three large regions with legislation encouraging orphan medicinal product development: the United States (US), European Union (EU) and Japan. The agencies representing these areas, with contributions from Canada and Australia, have worked jointly over the years to improve the quality and number of orphan designations as well as encourage parallel submission for orphan medicinal designation.

The workshop aimed at enhancing efficiency and avoiding ambiguity between the agencies and sponsors by highlighting 3 areas, the process of granting orphan medicine designation by the FDA, MHLW/PMDA and EMA, the post designation incentive programmes (accessible after receipt of designation) and the grants available through the FDA, European Commission and NIBIO (Japan) intended to boost research and development in the therapeutic management of rare diseases. Finally the sponsors also had a chance to attend 40 minute face-to-face sessions with the 3 agencies to discuss their individual concerns or comments.

Orphan Designations around the world
Following the explanation of the legal basis for orphan designations in Europe, the centralisation of the designation process and its assessment as well as the review strategy at the time of marketing authorisation (MAA) was clarified by speakers Agnes Mathieu and Stina Aarum. The progress so far on the provision of orphan designations and MAA of the orphan medicinal products (80 until December 2013) along with its distribution in different areas of medicine was also furnished.

The speaker from FDA (RAC) James Reese informed the audience about the orphan designation process as well as New Drug Application (NDA)/ Biological Licensing Application (BLA) approval, delineated by FDA. Also explained was when a drug can be authorised based on scientific rationale alone due to the paucity of human studies and the Final rule - which included amendments to the Orphan Drug Act. The number of orphan drug designations and approvals (33 in 2013) by the FDA were also provided.

Yasuko Inokuma from MHLW recounted the conditions of the Orphan Designation System in Japan. The criteria required by a product to be designated as an orphan product was explained in detail along with the importance of the preparing for consultation of the application to obtain the designation. The intricate relationship between the sponsor, MHLW and the PMDA and PAFSC was elucidated.

Orphan Designations incentives and grants around the world
During this session highlighting the framework of grants provided in the 3 regions, the role and goal of IRDiRC – working towards 200 therapies and means to diagnose most by 2020 - was expounded. Irene Norstedt presented EU policies towards sharing and collaborative research, establishing standards in research as well as participation by patients and/ or representatives in research and the efforts taken towards fulfilling these. A description of some of the current projects, earmarked funding, and future funding opportunities was furnished.

Erica McNeilly, presented the grants programs in Office of Orphan Product Development (OOPD), which includes the Pediatric Device Consortia Grant Program and OPD Clinical Research Grants (R01) for Orphan Diseases. Along with the grant application and review process, data on the number of applications and grants bestowed each year was provided. Information on other federally funded, patient advocacy group funded and grants provided by IRDiRC members were described.

In Japan the funding body is the National Institute of Biomedical Innovation (NIBIO) who, according to Hirofumi Kusunoki, provide grants after a product is granted an orphan drug designation. Only Japanese companies are eligible to apply for this grant which is for a maximum of 3 years and contributes half of the actual costs required to develop the drug.

Incentives and regulatory considerations
The incentives and regulatory considerations given after a product receives an orphan designation in EU are spread over several pieces of legislation. The presenter Segundo Mariz detailed the incentives covered in Europe, which include support for product development, small to medium enterprises, licensing and post licensing (10 year market exclusivity + 2 year market exclusivity with endorsed Paediatric Investigation Plan) along with specific regulatory considerations for biosimilar orphan medicines. Exclusive to sponsors applying in the EU is the availability of scientific advice and protocol assistance.

FDA incentives include access to the Orphan Products Grants Program, tax credits, fee waivers and market exclusivity. Additionally, John Milto from FDA described auxiliary incentives that can be obtained through the Rare Pediatric Disease Priority Review Voucher and Breakthrough Designation.

The means to obtain five major incentives for development of orphan drugs in Japan was demonstrated by Hiroshi Takeda from PMDA. These include subsidy payment, guidance and development, preferential tax treatment, priority review and extension of re-examination period.

Overall, this workshop was an illuminating experience to all rare disease stakeholders that attended, which will greatly benefit in the future from the insights provided by the various speakers from the agencies of the three large regions. The slides of each presentation of this workshop will be shortly available on the EMA website.
Read the Workshop Agenda
Further information on the workshop
 


 
Spotlight on...
 
PhenomeCentral: a new matchmaking web portal launched on Rare Disease Day
 
Due to the availability of low-cost genome sequencing, the identification of the molecular cause of hundreds of rare genetic disorders can be an achievable goal. However, the discovery of disease-causing variants requires confirmation of the mutation in multiple unrelated individuals. Additionally, an even larger number of genetic disorders remain unsolved due to the difficulty of identifying second families. It is therefore critical to establish effective and secure data-sharing techniques that allow clinicians and scientists to identify additional families via phenotype and genotype searches.

To address this need, PhenomeCentral, co-led by Michael Brudno and Kym Boycott, and developed by the Centre for Computational Medicine at the Hospital for Sick Children in Toronto, Canada, was launched on Rare Disease Day (February 28, 2014). PhenomeCentral is a novel online system that matches patients with similar genotypes and phenotypes. Its aim is to connect clinicians and scientists worldwide working on similar cases and thereby speeding up the discovery of genes responsible for rare disorders.

In a press release published on February 28, Michael Brudno, an Associate Professor with the University of Toronto’s Department of Computer Science who also holds an appointment in the Centre for Computational Medicine at The Hospital for Sick Children, explained how this portal will work: “PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases. Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes. This will enable faster diagnoses and simpler identification of the genetic cause of rare diseases.” Dr. Kym Boycott, geneticist and senior scientist at the Children’s Hospital of Eastern Ontario (CHEO) added that “together, researchers around the world are going to successfully crack the code for thousands of patients with unsolved conditions.”

PhenomeCentral is funded by the Canadian Institutes of Health Research (CIHR), Genome Canada, the Ontario Genomics Institute, as well as the Natural Sciences and Engineering Research Council (NSERC) through the Collaborative Health Research Program. Global partners of PhenomeCentral include the NIH Undiagnosed Diseases Program in the United States, CARE for RARE Australia, Finding of Rare Disease Genes (Canada), RD-Connect (Europe and Australia), and the International Rare Disease Research Consortium.
Read the press release

 


 
EU Policy News
 
DG SANCO
 
Commission adopts two Decisions on the establishment of the European Reference Networks
 

As part of the agreed Directive 2011/24/EU of the European Parliament and of the Council on the application of patients' rights in cross-border healthcare, the European Commission is required to support Member States in the development of European Reference Networks. In keeping with this Directive, two Decisions on the establishment of European Reference Networks (ERNs) were adopted by the European Commission on 10 March, 2014.

The purpose of European Reference Networks is to improve access to diagnosis and delivery of high-quality, accessible and cost-effective healthcare for patients. This is especially for patients who suffer from a medical condition that requires a particular focus of expertise or resources, such as rare diseases. European Reference Networks could also be crucial points for research and training, information dissemination and evaluation, again particularly for rare diseases where information and expertise is scarce. To achieve this, the European Commission has outlined certain criteria that a European Reference Network should fulfil in order to efficiently deal with the needs of the patients. Overall, according to the criteria outlined by the European Commission, European Reference Network should:
• have the knowledge and expertise to diagnose, follow-up and manage patients with evidence of good outcomes, as far as applicable;
• follow a multi-disciplinary approach;
• offer a high level of expertise and have the capacity to produce good practice guidelines and be able to implement outcome measures and quality control;
• contribute towards research and development;
• arrange teaching and training activities;
• work in partnership with other centres of expertise and networks at national and international level

The Delegated Decision (available online) provides the criteria that European Reference Networks must fulfil and criteria that healthcare providers wishing to join such networks must fulfil. The Implementing Decision (has to be requested) lays down the procedure on how to establish and evaluate the ERNs.

Both Decisions are expected to enter into force by the end of May, at the expiry of the two-month period for possible objection to the Delegated Decision by the EP and the Council.
In related news, a noteworthy project - European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment (EXPO-r-NeT) - has been recently funded under the EU Health Programme 2008-2013. This project will endeavour to establish a Paediatric Oncology European Reference Network (PO-ERN) “linking pre-existing reference centres inherent to the Cooperative PO- Clinical Trial Groups which may contribute high-level diagnostic and medical expertise to provide cross-border best care to rare childhood cancer populations. They intend to do this by “identifying target groups with conditions requiring a particular concentration of resources or expertise, especially when the expertise with certain cancer conditions is rare and case volume low”. This project is expected to garner immense information that will provide a framework for the PO-ERN, which in turn can significantly enhance the quality of care for children and young people with cancer. Through this project, ExPO-R-NeT aims to contribute towards the achievement of “a high-quality, accessible and cost-effective healthcare for childhood cancer in Europe”.
For Further Information

 


 
National & International Policy Developments
 
Other European news
 
EURORDIS Awards 2014 for outstanding accomplishments in the field of rare diseases
 

As it is now a tradition, this years’ Black Pearl Gala Dinner, held by the European Organisation for Rare Diseases (EURORDIS) on rare disease day saw many more key figures being presented the EURORDIS Award for excellence in the field of rare diseases. These awards are presented to people from diverse areas, who have contributed significantly for the betterment of rare diseases patients.
Marlene Haffner: Recipient of the lifetime achievement award

This year the Life Time Achievement Award was presented to Marlene Haffner for her immense contributions towards the development of orphan drugs while the European Policy Maker Award was collected by Dr. Antonyia Parvanova, for persistently tackling the needs of rare disease patients as a Member of the European Parliament. The European Leadership Awards was collectively received by Professor Guido Rasi, Executive Director of the European Medicines Agency (EMA), Professor Luca Pani, Director General of the Italian Medicines’ Agency (AIFA), and Paola Testori Coggi, Director General for Health and Consumer Protection at the European Commission for their commitment to the cause of rare disease patients.
Hans Hilger Ropers: Recipient of the scientific Award

The Scientific Award was presented to Professor Hans Hilger Ropers, Director at the Max-Planck-Institute for Molecular Genetics in Berlin for elucidating the molecular identity of certain monogenic disorders. Rick Guidotti received the Media Award for raising awareness for rare diseases through his photography and his non-profit organisation, Positive Exposure.

Company Awards were presented to Swedish Orphan Biovitrum (Sobi) and Orphan Europe for their unrelenting endeavour to produce quality treatments for rare disease patients by engaging with scientific community as well as patient organisations. Allianz Chronischer Seltener Erkrankungen (ACHSE) received the Patient Organisation Award for their role in turning Germany into one of the most committed Member States in the European Union for rare diseases in the fields of research, information, healthcare organisation and drug development. Finally, the EURORDIS Volunteer Award went to Lise Murphy for her far reaching contributions towards helping rare disease patients.
Go to the EURORDIS website

 
The Eva Luise Köhler Research Prize for Rare Diseases in 2014 goes to researcher studying the ALS brain
 

The prestigious Eva Luise Köhler Research Prize for Rare Diseases has been granted this year to Prof. Dr. Dr. hc mult. Niels Birbaumer of the Institute of Medical Psychology and Behavioral Neurobiology , University of Tübingen for his groundbreaking work on "Combined brain-machine interface for communication in amyotrophic lateral sclerosis brain”. This award was presented to Prof. Birbaumer by Eva Luise Köhler on 13 March, 2014 in the presence of her husband, Prof. Dr. Horst Köhler and the Health Minister Hermann Gröhe.

The work of Prof. Birbaumer involves using brain-machine-interfaces (BMI) that "connects" the brain with an external device, allowing a direct transfer of intentions, thoughts and emotions from the brain to the devices. When using this technique, the involvement and activation of the motor system and muscles including speech is not necessary and direct communication between brain and device, mostly computers, becomes possible. Prof. Birbaumer has successfully used this technology in preliminary experiments as an interface for communication for patients suffering from amyotrophic lateral sclerosis. The overarching goal of his research is to help patients suffering from disease related disabilities that thwart communication. This research is not only considered important to rehabilitate patients but may also have far-reaching consequences towards improving their quality of life. Along with the prestige that is involved in receiving the Eva Luise Köhler Research Prize, the prize money of €50,000 will prove to be very valuable to further the research efforts of Prof. Birbaumer.
For Further Information

 
Public consulation open for working document on research on biological materials of human origin
 
The Committee on Bioethics (DH-BIO) of the Council of Europe is launching a public consultation on the Working document on research on biological materials of human origin. This call for public consultation is based on Recommendation (2006), outcome of the Symposium on Biobanks Biomedical Collections, held on 19-20 June 2012 in Strasbourg (France) and the comments made by the delegations of DH-BIO. Although DH-BIO will appreciate comments on any aspect of the document, they are particularly interested in comments on storage for future research of residual biological materials, removal, storage and use of biological materials from persons not able to consent and governance. Comments can be made in English or French and have to be submitted by 15 August, 2014 via email to dgl.consultation@coe.int
Read the Working Document

 
Other International News
 
China imposes restrictive regulation of genetic testing
 
China’s Food and Drug Administration (CFDA) has acted to impose regulatory constraints on the provision of clinical genetic tests. The announcement appeared vague as although the ban on prenatal DNA testing is unambiguously stated, it is not known whether the ban would apply to other kinds of testing as well (for e.g. screening/testing for cancer). In effort to uphold the ban, CFDA has also prohibited the continuance of all current projects except those approved by the government relating to clinical genetic testing. They will now require all related medical devices to be licensed by the government “before they can be manufactured, imported, sold or used, potentially covering the world’s most popular gene-sequencing equipment, made by San Diego-based Illumina, Inc”. There is also an overwhelming possibility that this move could significantly restrict the efforts of the Chinese genome sequencing giant Bejing Genomics Institute (BGI).

It is speculated that China is anxious to prevent potential abuses of genetic testing, especially prenatal testing and this extreme measure is to ascertain that the rise in the new testing capacity, especially non-invasive prenatal testing (NIPT) techniques does not “hamper social and ethical values and ‘human heredity resources’ are protected. However, banning prenatal DNA testing especially, affects the Chinese population looking to have children due to the strict policies on the number of children they are allowed so it is of paramount importance that the children that are born are healthy. It is also speculated that this move is to curb the gender inequality in China which remains a huge concern, due to parents preferring a males over females for children, even though sex determination is routinely performed by an ultrasound scan and not genetic testing.
Read the article on PHG Foundation
Read the article on Forbes.com
Go to the CFDA website

 
The role of National Organization for Rare Disorders in the Orphan Drug Act and beyond
 
As the United States commemorates 31 years of the Orphan Drug Act this year, an article published in Orphan Drugs: Research and Reviews on the 7th Rare Disease Day provides an account of the progress made during the past 3 decades in serving rare disease patients. To illustrate this, the author Mary Dunkle recounts the early stages of National Organization for Rare Disorders (NORD) and its evolution. The article cites challenges faced by patients in the early days and how they learnt to be advocates by formalising their ad hoc coalition and work with governmental authorities especially the National Institutes of Health and US Food and Drug Administration, to put forth their agenda to the members of Congress, and to the media. These unrelenting efforts led to enacting the Orphan Drug Act in 1983, after which several milestones were gained in favour of rare disease patients. This review also highlights how NORD has built successful collaborations with other international patients organisations such as EURORDIS, NZORD as well as the important role patient organisations play in promoting research and accelerating treatment options. The article ends with a hopeful note for rare disease patients in the US due to the advent of the Affordable Care Act, the push towards accelerating drug development by FDA and the encouraging words of NIH Director Francis Collins.
Read the Open Access article

 
Lack of policies in rare disease in India highlighted
 
A press release from the newly formed Organisation for Rare Diseases India (ORDI) has expressed discontent and frustration over the absence of adequate policy in India towards assisting rare disease patients. Currently, research and development towards understanding rare diseases and finding appropriate therapeutic interventions for them is lacking in India, according to ORDI.
 
Canadian rare disease patients demand their day in the sun
 
A flurry of articles highlighting the increasing problem of the lack of regulations for rare diseases in Canada has been recently published. The frustration of patients and caretakers regarding the lack of a rare disease plan in Canada is becoming more and more evident. Rare disease stakeholders and patient organisations such as the Canadian Organization of Rare Diseases (CORD) are progressively concerned about how the soaring prices of orphan drugs will be met without a proper strategy. Rare disease stakeholders are pressurising the federal and provincial governments in Canada to consider approaches that will fund these expensive medications.

The lack of a clear definition of what constitutes a rare disease in Canada, as well as the urgent requirement for established guidelines for standard of care or clinical trials or regulatory approval times for orphan drugs is disconcerting to patients. In 2012, the federal government announced their plan to create a rare disease framework to encourage research on orphan drugs and information access; however this has yet to be implemented. Although there are several advances in research made in Canada and many initiatives are in place set up by patient groups, the most recent being Phenome-central (described above), there is a pressing need for a rare disease plan and proper strategy to help rare disease patients in Canada.
Read the article on The Globe and Mail
Read the article on Metronews

 
Guidance Documents and Recommendations
 
Congenital immunodeficiencies : International Consensus on the early diagnosis
 
Consult the Pubmed abstract
 
J Clin Immunol. ; [Epub ahead of print] ; March 2014
 
Guanidinoacetate methyltransferase deficiency: recommendations for diagnosis, treatment, and monitoring
 
Consult the Pubmed abstract
 
To read more about "Guanidinoacetate methyltransferase deficiency"

 
Mol Genet Metab. ; 111(1):16-25 ; January 2014
 


 
Ethical, Legal & Social Issues
 
Opinion: European drug agency is exempting too many firms from testing oncology drugs in children
 
According to an opinion piece published in British Medical Journal, “Children with cancer are being denied access to new drugs because of the way European Union rules are interpreted, say UK cancer specialists”. The author says that although the European paediatric medicine regulation, which came into force in 2007 bringing landmark changes to paediatric drug development, there is much that needs to be changed. The author mentions an analysis performed by the University of London’s Institute of Cancer Research, who have said that despite the good intentions of regulations, the waivers offered to pharmaceutical companies, which allows them to avoid testing their drug on the paediatric population is hampering the availability of more paediatric drugs coming into the market. The institute analysed 28 oncology drugs that were approved by the EMA (between 2007-2012), 14 drugs were granted waivers, despite 26 of these drugs having proven mechanism of actions in the paediatric population. Additionally, only 4 drugs were approved for this population.
Access the article through BMJ

 
Quality of life of caregivers of rare disease patients in the Czech Republic
 
A paper published in Procedia - Social and Behavioral Sciences describes selected results of an extensive study monitoring the quality of life of caregivers of a child with a rare disease. The authors evaluated questionnaires from parents of children with the following diseases: cystic fibrosis (CF), spinal muscular atrophy (SMA), mucopolysaccharidosis (MPS), group of metabolic disorders (MP) and achondroplasis (ACH), confirming that most monitored areas deteriorated during the care. The showed that the socio-economic status of the these caregivers deteriorated considerably and their outlook of the future was fairly grim. This difference was statistically significant between the respondents from the groups: caregivers who care for a family member with a rare disease and persons who care for a child without disability or disease - the control group - were confirmed. The authors recommend that considering the immense financial and social strain on these families, it is necessary to focus on better support of caregivers as well.
Read the open access article

 


 
Orphanet News
 

 
New Texts
 
2013, a year of achievements and triumphs for Orphanet
 
The Orphanet Activity Report for 2013 is now online, highlighting the significant achievements of Orphanet during 2013. A momentous accomplishment was the launch of a powerful research tool - the Orphanet rare diseases ontology (ORDO) - produced in collaboration with the EBI, which is now available on Bioportal. The previous year also marked the launch of the Orphanet online registration tool, allowing health professionals, patient organisations and researchers to submit or update information related to rare diseases, in Orphanet. Orphanet also displayed its prominence on the cutting edge of technology as it launched its mobile application for iPhone, iPad and Android. This App - recently awarded the Pharma-success awards in the Hospital Specialist section - allows subscribers to peruse the list of rare diseases, textual information and the list of expert centres.

Orphanet has increased its accessibility further by translating the international website into Dutch. Additionally, the encyclopaedia of rare diseases has been expanded and updated. As of 31 December 2013, some abstracts are available in Finnish, Polish, Greek and Slovak in addition to English, French, German, Italian, Spanish, Portuguese and Dutch. Furthermore, emergency guidelines are now available in Polish in addition also been translated into French, Italian and Spanish.
Also available is a new collection of texts in the Orphanet Encyclopaedia that is devoted to disabilities associated with each rare disease. This is addressed to the professionals in the field of disability as well as to the patients and their families. Orphanet has also generated more editions of its report series, which includes a series on the European Infrastructures useful to rare diseases; the list of rare diseases (in English and French) for effective communication as well as for easy retrieval of the Orpha codes by clinicians and coders and has updated most of the Orphanet Report Series (List of Rare Diseases, Prevalence of Rare Diseases, Lists of Orphan Drugs, Orphanet Activity Reports, and Satisfaction Surveys). Moreover, Orphanet has updated its directory of expert centres, medical laboratories, clinical trials, research projects, networks, registries and patient organisations has been expanded and updated and has posted the Orphanet Standard Procedures for all Orphanet National teams to follow.

Notably, in 2013, the Orphanet website drew around 20 million page views, a 61% increase compared to 2012 (12.2 million page views in 2012). The Pdfs on the Orphanet website were accessed around 850,000 times each month, amounting to more than 10,000,000 downloads in 2013. Orphanet users are spread across 211 countries; France, Italy, United States, Germany, Spain, Mexico, Brazil, Canada, Belgium and Switzerland being among the top ten countries.

Finally, the Orphanet nomenclature has been included in several national health information systems with working groups and collaborations set up in France, Germany, Belgium and Latvia and future collaborations planned with Greece and Hungary. Orpha codes have been added to the German modification of the ICD-10 (ICD-10-GM) in order to be able to code all RD within this German coding system.
Read the Orphanet Activity Report for 2013

 
New Research Projects open for Recruitment
 
Contact requested from patients with Hajdu-Cheney Syndrome
 
Hajdu-Cheney syndrome (HJCS:OMIM 102500) is a rare genetic disorder characterised by generalised (osteoporosis) and focal (acro-osteolysis) bone loss, variable congenital abnormalities, faltering growth and dysmorphic features. Autosomal dominantly transmitted mutations in the gene encoding Notch2 cause HJCS.Current medical management is through the use of the bone anti-resorptive agents, bisphosphonates, such as disodium pamidronate, to maintain bone mass. The treatment may not always be effective, nor does it prevent or improve the acro-osteolysis, which necessitates the development of new treatment options. Dr Melita Irving and her team at Guy's Hospital and King's College, London, UK are seeking to determine the incidence of Hajdu Cheney Syndrome worldwide to help inform a drug development programme. They are keen to hear about any known patients and affected relatives to help gauge the number of individuals with the condition. Contact Dr. Melita Irving for more information
 


 
New Syndromes
 



 
Autosomal-recessive disease leading to severe moyamoya and early-onset achalasia due to homozygous mutations in GUCY1A3 in three unrelated families
 
The authors described an autosomal-recessive disease leading to severe moyamoya and early-onset achalasia in three unrelated families. This syndrome is associated in all three families with homozygous mutations in GUCY1A3.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 94(3):385-94 ; March 2014
 
Lethargy, hyperlactatemia, and hyperammonemia of unexplained origin associated with CA5A alterations in four children
 
Four children in three unrelated families (one consanguineous) presented with lethargy, hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period and early childhood. The authors identified and validated three different CA5A alterations.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 94(3):453-61 ; March 2014
 
Novel form of vasculopathy with phenotypic overlap with polyarteritis nodosa due to mutations in CECR1
 
In two articles, the authors found that a novel form of vasculitis with phenotypic overlap with polyarteritis nodosa was caused by recessive mutations in CECR1.
Consult the Pubmed abstracts

 
To read more about "Polyarteritis nodosa"
To read more about "Pediatric polyarteritis nodosa"

 
N Engl J Med. ; 370(10):911-20; 921-31 ; March 2014
 
A new form of autosomal dominant episodic ataxia might be associated to the candidate variant UBR4
 
The authors described a novel form of autosomal dominant episodic ataxia in a large three-generation Irish family. This form of episodic ataxia presents in early childhood with periods of unsteadiness generalized weakness and slurred speech during an attack, which may be triggered by physical tiredness or stress. UBR4 seems to be the most likely candidate gene to be associated with the disease.
Consult the Pubmed abstract

 
To read more about "Hereditary episodic ataxia"

 
Eur J Hum Genet. ; 22(4):505-10 ; April 2014
 
Infantile spasms and cerebellar malformation are linked to autosomal recessive mutations in KPNA7
 
The authors described autosomal recessive mutations in KPNA7 in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox-Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia.
Consult the Pubmed abstract

 
Eur J Hum Genet. ; [Epub ahead of print] ; September 2013
 


 
New Genes
 



 
Desbuquois syndrome due to homozygous mutations in XYLT1 in seven patients from six consanguineous families
 
Consult the Pubmed abstract
 
To read more about "Desbuquois syndrome"

 
Am J Hum Genet. ; 94(3):405-14 ; March 2014
 
X-linked non-syndromic intellectual deficit is associated with mutations in USP9X and in DMD
 
Consult the Pubmed abstracts
 
To read more about "X-linked non-syndromic intellectual disability"

 
Am J Hum Genet. ; 4(3):470-8 ; March 2014
Eur J Hum Genet. ; 22(4):480-5 ; April 2014
 
Autosomal dominant Charcot-Marie-Tooth disease type 2 caused by a DCAF8 mutation
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2"

 
Neurology ; 82(10):873-8 ; March 2014
 
Brugada syndrome may be linked to missense mutations in PKP2
 
Consult the Pubmed abstract
 
To read more about "Brugada syndrome"

 
Circulation ; 129(10):1092-103 ; March 2014
 
Susceptibility to familial prostate cancer is associated with mutations in POU5F1
 
Consult the Pubmed abstract
 
To read more about "Familial prostate cancer"

 
Am J Hum Genet. ; 94(3):395-404 ; March 2014
 
Familial primary ovarian failure is due to mutations in STAG3 and may also be associated with mutations in HFM1
 
Consult the Pubmed abstracts
 
To read more about "Primary ovarian failure"

 
N Engl J Med. ; 370(10):943-9, 972-4 ; March 2014
 
ACTH-independent Cushing syndrome linked to mutations in PRKACA
 
Consult the Pubmed abstract
 
To read more about "ACTH-independent Cushing syndrome"

 
N Engl J Med. ; 370(11):1019-28 ; March 2014
 
Infantile mitochondrial complex II/III deficiency associated with NFS1 deficiency
 
Consult the Pubmed abstract
 
Mol Genet Genomic Med. ; 2(1):73-80 ; January 2014
 


 
Research in Action
 



 
Clinical Research
 
Huntington disease: proven feasibility of prevention trials for 50% at-risk subjects and safety of high-dose creatine could possibly modify the disease
 
Consult the Pubmed abstract
 
To read more about "Huntington disease"

 
Neurology ; 82(10):850-7 ; March 2014
 
Wiskott-Aldrich syndrome: long-term efficacy of gene therapy using a γ-retroviral vector and genotoxicity associated with a risk of leukemogenesis
 
Consult the Pubmed abstract
 
To read more about "Wiskott-Aldrich syndrome"

 
Sci Transl Med. ; 6(227):227ra33 ; March 2014
 
B-cell chronic lymphocytic leukemia: the combination of idelalisib and rituximab improved progression-free survival, response rate, and overall survival
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "B-cell chronic lymphocytic leukemia"

 
N Engl J Med. ; 370(11):997-1007 ; March 2014
 
Indolent B-cell non-Hodgkin lymphoma: idelalisib showed antitumor activity with an acceptable safety profile in patients who had received prior treatment
 
Consult the Pubmed abstract
 
To read more about "Indolent B-cell non-Hodgkin lymphoma"

 
N Engl J Med. ; 370(11):1008-18 ; March 2014
 
198th ENMC international workshop: 7th workshop on myotubular myopathies
 
Consult the Pubmed abstract
 
To read more about "Centronuclear myopathy"
To read more about "X-linked centronuclear myopathy"
To read more about "Autosomal recessive centronuclear myopathy"
To read more about "Autosomal dominant centronuclear myopathy"

 
Neuromuscul Disord. ; 23(12):1033-43 ; December 2013
 
CHILD syndrome: ointment containing cholesterol and simvastatin was highly effective and well-tolerated by three patients
 
Consult the Pubmed abstract
 
To read more about "CHILD syndrome"

 
Orphanet J Rare Dis. ; 9(1):33 ; March 2014
 
Recurrent thrombotic thrombocytopenic purpura complicating subsequent pregnancies may be uncommon, but the occurrence of preeclampsia may be increased
 
Consult the Pubmed abstract
 
To read more about "Acquired thrombotic thrombocytopenic purpura"

 
Blood ; 123(11):1674-80 ; March 2014
 
Charcot-Marie-Tooth disease type 1A: mechanism, prevalence and more severe neuropathy phenotype of triplications
 
Consult the Pubmed abstract
 
To read more about "Charcot-Marie-Tooth disease type 1A"

 
Am J Hum Genet. ; 94(3):462-9 ; March 2014
 
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency: frequent manifestation of persistent pulmonary arterial hypertension in the newborn
 
Consult the Pubmed abstract
 
To read more about "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency"

 
Mol Genet Metab. ; 111(3):353-9 ; March 2014
 
Therapeutic Approaches
 

 
Hurler syndrome: long-term nonsense suppression therapy moderates disease progression in mice
 
Consult the Pubmed abstract
 
To read more about "Hurler syndrome"

 
Mol Genet Metab. ; 111(3):374-81 ; March 2014
 


 
Patient Management and Therapy
 
Special issue on diagnostic criteria on autoimmune diseases
 
Consult the special issue
 
Autoimmunity Reviews ; Volume 13, Issues 4–5, Pages 331-594 ; April–May 2014
 
Review on the optimal management of pulmonary arterial hypertension related to congenital heart disease patients
 
Consult the Pubmed abstract
 
To read more about "Congenital heart malformation"

 
Eur Heart J. ; 35(11):691-700 ; March 2014
 
Idiopathic hypercalciuria: review on dietary interventions for preventing complications
 
Consult the Pubmed abstract
 
To read more about "Idiopathic hypercalciuria"

 
Cochrane Database Syst Rev. ; 2:CD006022 ; February 2014
 
One 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 one new Clinical Utility Gene Card for: Dent Disease

 


 
Orphan Drugs
 
Metreleptin approved by FDA, albeit for a subset of patients with a rare form of lipodystrophy
 

FDA has approved metreleptin (Myalept) to treat a subset of patients with partial lipodystrophy – a life threatening rare disease caused due to the lack of the essential hormone leptin. Since FDA was dissatisfied with the data provided by Astrazeneca for this drug, it is approved only for patients with little or no leptin-producing fat tissue and have asked for a further seven post-marketing studies. This is to closely monitor antibody development and serious adverse events that may be caused by this drug.
Read the FDA approval for metreleptin

 
Regulatory News
 
FDA’s drive towards increasing dialogue with the public to help patients with rare diseases
 
A recent press release from the FDA’s Office of Orphan Products Development (OOPD), in collaboration with the Center for Drug Evaluation and Research (CDER), announced the launch of web-based educational resources for patients and industry on FDA-related rare disease topics, the first of which was revealed on Rare Disease Day, 28 February, 2014. The resources covered on the website elucidate mechanisms to interact with the agency and access therapies that are currently being studied. They have also released an FDA Voice Blog focusing on initiatives related to paediatric rare diseases (access the voice blog here). This is part of FDA’s ongoing efforts to bring effective treatments for rare disease patients, which have been commendable to date. FDA has reiterated the importance of a listening to the comments and concerns of patients and interacting with them in order to address their needs and better serve them.
 
6 positive opinions recommending orphan designation at the March 2014 COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted six positive opinions issued at the March 2014 COMP meeting for:

- the treatment of sickle cell disease
- the treatment of B-lymphoblastic leukaemia/lymphoma
- the treatment of ovarian cancer
- the treatment of ATTR amyloidosis
- the treatment of plasma cell myeloma
- the treatment of lymphoplasmacytic lymphoma

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
 
FDA considers trials for mitochondrial replacement therapy
 
Following the United Kingdom, the Unites States Food and Drug Administration (FDA) is now testing its waters to implement mitochondrial replacement therapy. This technique may prove to be a boon for couples who are at a risk of giving birth to children with a mitochondrial disease. Since mitochondrial DNA is transferred from the mother, this method involves removing the nuclear genes from an egg with mutated mitochondria and places these genes into a donor egg with healthy mitochondria before in-vitro fertilisation. Although, the evidence of the successful implementation of this methodology is lacking in humans, researchers believe a well studied and appropriately designed clinical trial should be considered. Currently in the US, the FDA can regulate any transfer of mitochondria in the embryo as it involves gene transfer. At a meeting on 25-26 February, an advisory committee to the U.S. Food and Drug Administration (FDA) heard the concerns and assurances on this topic, based on which they are due to draft recommendations in the coming months, which the agency will draw on to develop regulations. This advisory group called ‘FDAs Cellular, Tissue, and Gene Therapies Advisory Committee’, includes doctors, researchers, and representatives from industry and patient groups. This committee will examine the safety and effectiveness of this technique for clinical trials in humans.
For further information

 
The international rare cancer initiative
 

An article published in Expert Opinion on Orphan Drugs, discusses the current and future approaches of International Rare Cancer Initiative (IRCI). This initiative commenced in 2011 to aid in performing international clinical trials for patients suffering from rare cancers and is now overseeing 8 clinical trials with 7 types of rare cancers. An interesting initiative, they do this not by providing funding but by coordinating clinical research funders and networks and providing much needed advice and assistance to researchers involved in these trials. At the outset IRCI was mainly interested in helping with the analysis of clinical trials with limited participants and in liaising with regulators and industry for commercial viability of the drugs.

The article explains that although some statistical methods account for small number of participants all the time and therefore internationality of a clinical trial becomes critical, which in turn presents various levels of complexity that need to be dealt with. But if the trials are across borders there are several other obvious challenges such as the quality control of these clinical trials how the drugs will be accessed during the clinical trials. The author also mentions other challenges that have to be overcome such as along regulatory challenges which differ in different countries encompasses access to specific expertise and the procedure required in case the clinical trial is a success. The article also touched upon funding requirements for these categories of clinical trials. Finally the authors note that “measures should be taken to improve the integration of research across international boundaries, to improve the funding of academic research and to better integrate the research capacity of industry with the public sector for the greater benefits of patients and society”.
Consult the Journal to access the article

 
Accelerating development, registration and access to medicines for rare diseases in the European Union through adaptive approaches
 
A paper published in the Orphanet Journal of Rare Diseases describes how the European Union can address the need to accelerate development and access of medications needed to help rare disease patients. This paper highlights that although a concerted discourse already exists between stakeholders, there “growing recognition that the current research-and-development (R&D) and innovation-regulation ecosystem could be made more efficient to stimulate and support access to innovative therapies for those patients with rare, life-threatening diseases for which there are no adequate licensed therapies”.

Despite the existence of mechanisms in Europe by which an orphan medicinal product (OMP) can currently be fast-tracked through the licensing system (such as granting of a conditional-marketing authorization or under exceptional-circumstances), few OMPs have been able to meet the criteria to avail the benefits of these mechanisms. The authors in the article therefore suggest adaptive licensing- involving a graded, tightly managed process – to enable faster entry of OMPs into the market and hence quicker access for patients. According to the authors, even though there could be a risk of premature drug approvals on commercial rather than clinical grounds, patients, regulators as well as policy makers are in favour of adaptive licensing to be able to get OMPs into the market faster than the current rate.
Consult the Open Access article

 
Data sharing and transparency during orphan drug development and clinical trials
 
An article in Public Health Genomics demonstrates how data sharing from clinical trials can be key to the development and approval of medicines for rare diseases. The authors highlight how many events during the first half of 2013 have contributed to the movement for increased transparency. These include the development of the European Medicines Agency’s new data publication policy, the creation of the AllTrials petition and GlaxoSmithKline’s choice to sign it, the launch of GlaxoSmithKline’s system for access to patient-level clinical trial data and Roche’s commitment to create a similar system, the release of results from the Yale University Open Data Access project’s first medicine analysis for Medtronic, and the creation of the Reg4All website. The authors summarise the major developments in clinical trial transparency between January and June 2013 and analyses the composition of datasets released by GlaxoSmithKline. GlaxoSmithKline’s database of available trials was tabulated and graphs of relevant trial characteristics were produced. The authors believe that due to current transparency initiatives, it is likely that much more data will be made available over the next few years through systems similar to GlaxoSmithKline’s. FInallly, the authors also stress that although some aspects of GlaxoSmith-Kline’s model could limit its usefulness, the data currently listed is diverse and could be promising for researchers interested in rare disease treatment.
Consult the Pubmed abstract

 


 
Grants
 


 
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

 
The Ataxia of Charlevoix-Saguenay Foundation
 
is offering an annual research grants for work aimed at developing treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Such funding is offered regardless of where the research is being conducted and the deadline to apply is May 22, 2014. Further information and the application form can be obtained on the Foundation's website http://www.arsacs.com .
 
Translational consortia for rare diseases research
 
The funding initiative aims to concentrate research capacities in regional or nationwide research consortia that will develop new knowledge on rare diseases through interdisciplinary cooperation. The research consortia should combine projects on basic research, clinical research and/or health care research into an integrated programme which promises convincing potential for innovation and a short to mid-term effect on improving care for patients. Application Deadline: May 21, 2014
For further details in German

 


 
Partnersearch, Job Opportunities
 
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

 
Call for projects “Preclinical Research in Rare Diseases”
 
The Rare diseases Foundation launches its first call for projects "Preclinical research in rare diseases: development of translational steps in large animals." The objective of this call for proposals is to support scientific programs pilots at the interface of the proof of concept in vivo obtained in rodents most often, and the development of a clinical application in humans to to improve the well-being of patients.Le Foundation support Rare diseases will allow carriers winners realize their projects in structures known for their expertise, in accordance with European regulations. All the elements to respond to this call for proposals are available you registering / connecting to the professional space , heading Funding Landscape Foundation tab rare diseases.
 


 
Courses & Educational Initiatives
 

 
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

 


 
What's on Where?
 

 
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 International Collaboration for Clinical Genomics (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

 
2014 EWGGD (European Working Group on Gaucher Disease) meeting
 
Date: 25–28 June, 2014
Location: Haifa Israel

This biannual meeting is organised by the European Working Group on Gaucher Diseases in order to promote the presentation and publication of scientific data and research, and to discuss freely all aspects of Gaucher disease. Physicians, researchers, and patients who are interested in Gaucher disease are welcome to attend the meeting.
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: Nice, 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 SIG
 
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

 
New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
 
Date: 30 October – 1 November, 2014
Venue: Stressa, Italy


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

 
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

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