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Orphan drug report forecasts worldwide orphan drug sales to double by 2018

An optimistic future for orphan drugs is predicted by a study conducted by EvaluatePharma. The laws adopted in the US, EU and Japan to encourage research and development of orphan drugs provided significant incentives to pharmaceutical companies developing orphan drugs. These incentives included fee reductions, reduced R&D costs and most notably market exclusivity for a significant period of time (7 years for the US, 10 for EU). Since then orphan drug production has been considered lucrative by many biotechnology companies. The EvaluatePharma report shows a steady increase in orphan drug sales over the years and has forecasted that the worldwide orphan drug sales will double to 15.9% by 2018. The report identifies Novartis to lead the orphan drug sales market in 2018 with Roche, Celgene, Pfizer and Sanofi in the next 4 positions. The number one orphan drug in 2018 is predicted to be Rituxan from Roche, which is indicated for the treatment of rare diseases non-Hodgkin lymphoma and chronic lymphocytic leukemia. A close second is Revlimid (Celgene) for the treatment of multiple myeloma and myelodysplastic syndromes. The report has envisaged the return on investment (ROI) for orphan drugs is to be considerably higher than that of non-orphan drugs- 10.3 times and 6 times greater than the investment respectively - which makes orphan drugs a more lucrative option for research and development. This increase in ROI is because of several reasons including the reduced number of patients for an average clinical trial for orphan drugs, the expected increase in worldwide drug sales as well as shorter approval times due to priority review provided to orphan drugs in the US. This increase in ROI does not take into account the tax credits that are provided to orphan drug development in the US. It should be noted that the time taken for Phase III trials does not differ between orphan and non-orphan drugs. Based on the ROI calculation, the report identifies Lilly's anti-VEGFr MAb IMC-1121B, Roche’s anti-mesenchymal epithelial transition (c-Met) MAb and Pharmacyclics’ Ibrutinib, to be the top 3 most valuable orphan drugs in 2018. However, the report identified Kyprolis indicated for multiple myeloma as the most promising new orphan drug in 2012 with expected sales of $897m by 2017, with Kalydeco indicated for cystic fibrosis as a close second. The report also highlights the strong increase in the number of orphan designations provided by US, EU and Japan cumulatively, especially from the year 2003. The report shows that in EU 18.5% of the designations are for ultra rare diseases (prevalence of 10,000 or less), while “acute myeloid leukaemia is the indication with the most orphan designations”, blood malignancies come next and the others are for historically well-defined populations like cystic fibrosis and Duchenne muscular dystrophy. This report is rich with information on the potential of orphan drugs in the market and provides an impetus to pharmaceutical companies to go forward with the research and development for orphan drugs and medicinal products.

Download the open access report by Evaluate Pharma
Photo courtesy: iStockphoto

Spotlight on...
DECIPHER- a valuable database for researchers and clinicians: Q&A with Dr. Helen Firth

OrphaNews Europe: What was the aim of developing DECIPHER? What were the factors that helped in creating this database?
Dr. Helen Firth: The DECIPHER project was conceived as a clinical and research tool to:
• Aid in the interpretation of data from genome-wide analyses eg. Differentiation between pathogenic and polymorphic genomic variants
• Utilise the human genome reference sequence via Ensembl and other genome browsers to define which genes are involved in a specific copy number variant (microdeletion / microduplication) and for sequence variants, whether they are positioned within a gene or regulatory element.
• Facilitate research into the study of genes that affect human health and development to improve diagnosis, management and therapy of rare diseases.
The main factors that helped in creating the DECIPHER database were the proximity of the genomics, programming, web expertise and bioinformatics resources at the Wellcome Trust Sanger Institute and European Bioinformatics Institute, Hinxton.

OrphaNews Europe: What is the current focus of this project?
Dr. Helen Firth: With the launch of DECIPHER Sequence earlier this month, our current focus is the integration of sequence variation with structural variation. Due to the historical legacy of microscopy based chromosome analysis and single gene Sanger-based sequence analysis, genomic variation has been categorized into large structural aberrations and nucleotide-based sequence variants. In reality, there is a continuous spectrum of genomic variation from copy number variants to sequence variants and DECIPHER now reflects that biological reality.

OrphaNews Europe: What are the key features of DECIPHER?
Dr. Helen Firth: DECIPHER brings together a suite of genomic resources that enable visualisation of a genomic variant in its correct location on the human genome map together with the associated phenotype. The DECIPHER display includes separate tracks of normal variation and pathological variation that together help in determining the significance of a variant identified in a patient.
DECIPHER is unique in capturing information from copy number variants (CNVs) and sequence variants (SNVs) ie across the scale from Megabases to single nucleotide changes. DECIPHER is a global resource containing data on >20,000 patients with consent for data sharing in >8,000 patients.
DECIPHER now has an integrated, scrollable and zoomable browser enabling simultaneous display of CNVs and SNVs. It also has a report function enabling production of a customisable PDF report that can be printed for the patient record.
To facilitate collaboration, members of the consortium have an email link to the submitting centre. External users can contact DECIPHER who will forward their email request to the submitting clinician. DECIPHER has been instrumental in facilitating >260 publications relating genotype with phenotype.

OrphaNews Europe: Can you describe some of the challenges you encountered during the creation of DECIPHER?
Dr. Helen Firth: At the start of the project, the main challenge in developing DECIPHER related to the diversity of arrays in use and the need to catalogue and map every clone in an array to enable users to display their data. This was overcome by the move to deposition by base-pair position a few years ago once arrays had reached a sufficiently high level of resolution to enable this. A second challenge has been remapping all of the data to the reference sequence with new releases of the reference genome. A third challenge has been building an international collaboration of academic genetics centres. This was facilitated by the annual DECIPHER symposia from 2004-11 and latterly by the annual Genomic Disorders meeting held at Hinxton.

OrphaNews Europe: How long have you been involved in this project?
Dr. Helen Firth: I have been involved with DECIPHER since its inception in 2004. I came up with the initial concept of DECIPHER and have had the good fortune to work with a very talented and committed team at the Wellcome Trust Sanger Institute whose creativity and vision have helped the project to flourish and to develop in scope and ambition.

OrphaNews Europe: Who are your key collaborators?
Dr. Helen Firth: Dr Matt Hurles of the Wellcome Trust Sanger Institute is the Lead Scientist for the DECIPHER project. More than 200 academic centres of clinical genetics worldwide are members of the DECIPHER consortium. Patients and their families are key participants in the project and they are represented on the Scientific Advisory Board for the project by Dr Beverly Searle, CEO of the Rare Chromosome Disorder support group ‘Unique’ www.rarechromo.org.

OrphaNews Europe: What are your main funding sources?
Dr. Helen Firth: The DECIPHER project is funded by the Wellcome Trust Sanger Institute at Hinxton, UK.

OrphaNews Europe: How does DECIPHER help catalogue common copy number changes?
Dr. Helen Firth: DECIPHER helps catalogue copy number changes by providing a way for clinicians and scientists to share rare and novel variants and their associated phenotype and inheritance. This approach has facilitated the identification of some of the recurrent microdeletion/duplication disorders. It enables patients with rare conditions to be evaluated against the global experience of these conditions that is essential in improving diagnosis and care for patients with rare disorders in such a rapidly evolving field.
As DECIPHER now incorporates SNVs, this increases the opportunity to identify causative genes for rare disease by leveraging the synergy between haploinsufficiency caused by gene deletion in CNVs with loss of function SNVs.

OrphaNews Europe: How do you decide who can contribute to the database? Do the contributing centers have to fulfil certain criteria?
Dr. Helen Firth: The DECIPHER consortium is a global network of >200 academic genetics centres. When centres apply to join the consortium they are asked to complete a brief questionnaire. We evaluate the web-site of the institution, the availability of both clinical and laboratory expertise in genetics and the number of relevant publications together with other parameters in order to reach a decision regarding membership in order to ensure that high quality data with good phenotype is deposited in DECIPHER. Much of the utility of DECIPHER is freely available to non-members including a comprehensive search facility and access to Syndrome reports.

OrphaNews Europe: What are the benefits of having a source like DECIPHER for clinicians and patients in the rare disease community?
Dr. Helen Firth: In 2012 alone, DECIPHER data was referenced in over 160 international peer-reviewed publications. It has been a real delight to see the number of publications using DECIPHER data to advance scientific knowledge and a great privilege to experience at first hand the real difference DECIPHER can make to patients in the clinic when we can find a 'match' for them with patients from another centre and work collaboratively to understand the biological basis of their disorder.

OrphaNews Europe: How does being a part of IRDiRC help you in furthering your needs?
Dr. Helen Firth: IRDiRC brings DECIPHER into contact with an international network of clinicians and scientists who share our aims to improve diagnosis and treatment for patients with rare disease so we are delighted with this partnership. We would be very pleased for DECIPHER to be adopted by IRDiRC for sharing of genomic variant and phenotype data and would be delighted to facilitate this. Please contact us at decipher@sanger.ac.uk to discuss how we can provide help for individual projects or collaborations within IRDiRC.

OrphaNews Europe: How is DECIPHER planning to contribute to reaching the goals of IRDiRC by 2020?
Dr. Helen Firth: By becoming the first global resource integrating copy number and sequence variant data with phenotype and inheritance data we hope that DECIPHER can catalyse data sharing within IRDiRC and enable it to reach and indeed surpass its goal of the means to diagnose most rare diseases and develop 200 new therapies by 2020.

OrphaNews Europe: What do you think might be some of the ethical issues faced by DECIPHER and databases such as this one? How do you plan to address these dilemmas?
Dr. Helen Firth: We have been very mindful of ethical and privacy issues in the design and development of DECIPHER. A medical ethicist and an expert in privacy law have been part of our advisory board from the start of the project. Within the UK a Research Ethics Committee has approved the project.
There is a clear tension between the need for wide data sharing to facilitate rapid progress in rare disease research and maintaining privacy and confidentiality for individuals with rare diseases. DECIPHER is a secure database using https (ie the same level of security used for banking and financial transactions). DECIPHER’s web security is audited by external independent auditors to confirm its compliance. Only logged-in members of the consortium are able to discover the submitting centre for a given patient, other users do not know the global location of the patient and can only access the submitting centre through contact with DECIPHER which will then forward their request to the submitting clinician so that they can judge whether to share more information. The link between the DECIPHER number and patient identifiable information is held within the academic genetics service who has legitimate access to that information and an obligation to keep that information secure. This design maintains a balance that enables effective data sharing whilst retaining privacy and confidentiality.

OrphaNews Europe: Do you think the proposed changes to the privacy laws in Europe would affect DECIPHER? If yes, can you tell us how?
Dr. Helen Firth: DECIPHER has always maintained a position of explicit consent for broad data sharing so the current structure of the project would not be threatened by the proposed changes to the privacy laws in Europe. However these changes would impact on and constrain our proposed development to facilitate data sharing by managed data access that are designed to promote research in rare disorders in situations where individual patient consent is not possible.

OrphaNews Europe: What are the future goals (long term and/or short term goals) of DECIPHER?
Dr. Helen Firth: Opening the project to research teams to deposit data. As genomics moves into mainstream medicine, broadening the range of centres that are eligible to join the consortium so that centres specialising for example in cardiac genetics or neurological genetics can utilise the resource to share data.

1.  Firth, H.V., Richards, S.M., Bevan, A.P., Clayton, S., Corpas, M., Rajan, D., Van Vooren, S., Moreau, Y., Pettett, R.M. and Carter, N.P. (2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am. J. Hum. Genet., 84, 524-533. Consult the PubMed abstract
2.  Corpas, M., Bragin, E., Clayton, S., Bevan, P. and Firth, H.V. (2012) Interpretation of genomic copy number variants using DECIPHER. Current protocols in human genetics / editorial board, Jonathan L. Haines [et al.], Chapter 8, Unit 8 14. Read the open access chapter
3.  Swaminathan, G.J., Bragin, E., Chatzimichali, E.A., Corpas, M., Bevan, A.P., Wright, C.F., Carter, N.P., Hurles, M.E. and Firth, H.V. (2012) DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum. Mol. Genet., 21, R37-44. Consult the PubMed abstract

Helen Firth on behalf of the DECIPHER development team.

Visit the website for more information on DECIPHER



EU Policy News

European Medicines Agency on fee reductions for orphan medicines
The EMA has responded to the EuropaBio and EBE request for continual fee reductions for non-SMEs developing orphan medicinal products (OMP). The EMA have cited budgetary constraints as the principle reason for the reduction of these incentives. As previously reported by OrphaNews Europe, EuropaBio and EBE have ascertained that the fee reductions provided to companies that develop OMP’s is an important incentive that helps these biotechs to obtain the return on the investment they make towards manufacturing and marketing costs. Although the EMA have upheld their decision, they have also recognised the importance of providing these incentives to orphan medications to increase research and development. They have therefore agreed to give due consideration to the concerns expressed by EuropaBio and EBE the next time the fee reduction policy is reviewed.
In other news, the EMA does not require sponsors of medicines who have received orphan designation to inform the agency of their intent to apply for fee reduction eligibility. In an effort to reduce the administrative burden on the EMA, they have cancelled this procedure and have said that they no longer “need additional information from the sponsor before submitting an application eligible for fee reduction orphan medicines”.
Read the letter by EBE and EuropaBio
Read the reply by the EMA
Consult the EMA website for details on the new procedure for orphan medicinal products

Transparency: requested by EMA, rejected by the general court of the European Union
In keeping with Regulation (EC)1049/2001, the EMA has aimed to increase transparency by providing access to institution documents to the public on request. AbbVie and InterMune have however contested the release of certain documents provided by them to the EMA, at the general court of the European Union. According to Matt Bennett, senior vice president for the Pharmaceutical Research and Manufacturers of America, the industry is in favour of responsible data sharing that protects patent incentives however, he expressed concern about this public access policy saying “the EMA’s current and proposed policies fail to respect these principles.” The general court of the European Union has provided an interim judgement in favour of AbbVie and InterMune and has prohibited the EMA from releasing the concerned documents before the delivery of the final judgement.
EMA has released a press statement expressing regret over this decision and are currently considering whether they should contest this decision. The transparency objective has been in line with what has been expected from the EMA by various stakeholders who also provided several statements of support for the EMA’s open access policy during the course of the trial. Although the EMA does not view this decision favourably, they are waiting for legal clarification so they can move forward with their efforts to help patients. The EMA has released over 1.9 million documents in line with the public access policy and has said that they “will continue with its policy to grant access to documents (while) requests for access to documents similar to those contested by AbbVie and InterMune will be considered on a case-by-case basis in the light of the Court orders”.
EMA Press Statement

EMA lists the orphan medicinal products that need further monitoring
As part of its pharmacovigilance activity, EMA has presented a report on the medicinal products in the European market that need additional monitoring. The highlighted medicinal products on the list are orphan products under further surveillance. This document is crucial for rare disease patients and their clinicians to allow them continue to be vigilant about the safety and efficacy that they use so that adverse events can be reported promptly.

National & International Policy Developments
Other European news
Crowdfunding project for Lowe Syndrome takes off: contribute today!

Funds 4 research (F4R) is a not for profit organisation that provides crowdfunding opportunities to various projects that are important to the community. It was born from the passion of a group of people for research and science as a factor of progress and social welfare. This forum was developed with contributions from the community to fund science and research projects.
The first project F4R will be funding is called I LOWE YOU which aims to help children suffering from Lowe Syndrome, a rare disease affecting almost exclusively children (boys). This X linked disease leads to an inborn error of metabolism which affects many organs causing neurological, renal and ophthalmic dysfunction. The I Lowe you project is a “collective intelligence” scheme that involves parents, doctors and researchers working together to advance the biomedical knowledge of the disease. Another aspect of the project will entail identifying the psychological impact of the disease on patients. Both these project goals will aim to improve the quality of life of the patient. Headed by Principal Investigator Dr. Mercedes Serrano- a well known neuro-paediatrician and researcher at CIBERER- the exemplary team of this project includes biochemists, geneticists, and psychologists.
The crowdfunding platform has asked the community to come together and help these children by contributing to this project. The deadline for contributions has been extended to 25 June 2013 and every donation will count towards the betterment of the life of children suffering from Lowe syndrome.
For further information on the crowdfunding project and to make donations please click here
Rare disabilities: the first french national plan 2009-2013 will have a sequel; INSERM publishes expert report

At the meeting of the Monitoring Committee of the national scheme for social and medico-social organisation of rare disabilities held Tuesday, April 30, 2013, Marie-Arlette Carlotti, Associate Minister for Disability and the Fight against exclusion, provided an appraisal of the first national scheme. The latter, led by the Directorate General of Social Cohesion (CRD) and the National Solidarity Fund for Autonomy (CNSA), had two main objectives: improving knowledge about rare disabilities, and the organisation of accompaniments on the whole territory. In organisational terms, the first three "National Resource Centres" were coordinated in a "National Cooperation Group for rare disabilities" and a fourth center was approved on February 15, devoted to the care of severe epilepsy. The Minister announced the forthcoming creation of 131 positions dedicated to the support of children or adults with a rare disability. In terms of improving knowledge, several research projects have been funded by the CNSA in collaboration with the Institute of Public Health Research. The minister has asked for a review of the first scheme, and informed that she would announce a second one in 2014 based on various studies conducted during the first, such as the expert report conducted by INSERM at the request of the CNSA, which recommendations have now been published: "Rare handicaps: context, purposes, perspectives". It brings a reflection on the concept of rare disability, a French specificity, the need for description with the International Classification of Functioning, Disability and Health (ICF), the requirement to create national and international records or databases, and proposals to strengthen the framework established by the first scheme:
• improve visibility, accessibility and effectiveness of existing measures;
• set up a person or a team as a reference point for rare disabilities by region;
• strengthen the mission of knowledge sharing of the "National Cooperation Group for rare disabilities";
• help health, education and socio-medical field professionals to better identify people with a rare disability.
As part of the collaboration between CNSA and INSERM, Orphanet is contributing by improving existing knowledge: the forms of the public encyclopedia are now routinely enriched with a "handicap" section. A work for systematic indexing of rare diseases with the terms of the International Classification of Functioning is underway. For more information:
First rare disabilities national scheme
Step point of CNSA
INSERM expert report on rare disabilities

Leaflets on Genetic tests for health purposes available in 17 languages
The council of Europe in collaboration with Eurogentest and European Society of Human Genetics have released a leaflet series in 17 European languages that provides information on different types of genetic tests available to patients. The leaflet also discusses the significance and limitations of each test.
Download the leaflets

Other International News
Why we need to recognise the international scenario of Clinical trials

The journal ecancermedicalscience has recently added articles on its website that explores the need for international collaboration when it comes to Clinical Trials in this day and age. The editorial by Keat et al., describes the International Rare Cancers Initiatives (IRCI) –a joint initiative between the European Organization for Research and Treatment of Cancer (EORTC), the U.S. National Cancer Institute (NCI), the National Institute for Health Research (NIHR) Cancer Research Network (NCRN) and Cancer Research UK (CR‐UK). This initiative was established in 2011 to enable international collaboration for clinical trials for patients with rare cancers. This unique initiative encourages innovative trial designs and Bayesian statistics “to maximise the potential for answering research questions and to identify and overcome barriers to international trials to allow agreed IRCI trials to run smoothly”. IRCI have identified nine rare cancers after consultation with clinical communities, where interventional strategies are possible. Out of which seven are developing clinical trials for submission to funding and out of that the authors have made a particular mention of the progress made by the Gynaecological Sarcoma society where a “Phase III randomised trial of gemcitabine plus docetaxel followed by doxorubicin versus observation for uterus-limited, high grade uterine leiomyosarcoma is now open for recruitment”. They are evolving into developing international collaboration for clinical trials across the world.
Read the open access article
Learn more
The 9 cancer types identified by IRCI
The journal has also published an article describing the methodological, organisational and regulatory challenges that clinical trials in rare diseases come across. Read the open access article

Office of Rare Diseases revamps its website

Navigating the ORDR/NCATS will now be easier as the entire site has been revamped for better access and to better serve the rare disease community. The new site is designed to provide researchers, health care providers, patients, and patient easy access to research tools, clinical trials, genetic testing, scientific conferences and other information. They have a streamlined website which helps the reader find information quickly and efficiently. Most of the information and details on how the information can be reached within a few clicks and critical information is also found on the first page of the website.

Guidance Documents and Recommendations
Hereditary non polyposis colon cancer: revised guidelines by a group of European experts
Consult the PubMed abstract
To read more about "Hereditary nonpolyposis colon cancer"

Gut. ; 62(6):812-23. ; June 2013
Cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases
Consult the PubMed abstract
Eur Heart J. ; 34(19):1448-58 ; May 2013
Autism spectrum disorders: American College of Medical Genetics and Genomics (ACMG) 2013 guideline revisions of clinical genetics evaluation in identifying the etiology
Consult the PubMed abstract
To read more about "Pervasive developmental disorder"

Genet Med. ; 15(5):399-407 ; May 2013

Ethical, Legal & Social Issues

Key Figures in Rare Disease research express concern over the European Reform of the Data Protection Rules (RoDPR)

In a recent comment published in the Ethics watch section of Nature Reviews Genetics researchers and clinicians of the rare disease community have expressed grave concern over the recent proposal to overhaul the current privacy laws. The authors do not favour the aim of this new proposal to paint subject of the use of personal information in rare disease research with the same brush used for “regulating commerce or the internet”. The authors contend that the provisions of the current privacy laws-which allow data-sharing if they are codified and confidentiality is guaranteed- will be withdrawn if the amendments proposed by the Committee on Civil liberties, Justice and Home affairs and the European Reform of the Data Protection Rules (RoDPR) are followed through. A considerable amount of research on rare disease depends on the accessibility of data from biobanks and registries. The authors point to the fact that the European Commission requires member nations to develop registries as part of the rare disease national plan. They emphasise that to be able to use the data provided in these registries, it is imperative that there should be some amount of openness regarding data sharing. Data sharing becomes especially important for rare disease research because of the need to go across national borders for increasing sample size of the rare disease patients. The article also highlights that the Article 8 of the Charter of Fundamental Rights of the EU- which recognises the rights to protection of personal data- is not an absolute right. In fact most of the rights provided by the Charter are not absolute and according to the authors “should be balanced with other rights” as well as the collective rights of the society such as the right to quality medical treatment and the right of Integration of persons with disabilities. The authors stress that the entire rare disease community researchers, clinicians and patient organisations alike have expressed deep concerns regarding these amendments and have asked to stop this modification of privacy laws.
Consult Nature Genetics to access the article
Read the article previously reported on OrphaNews Europe

Research prioritisation matters for Dystrophic Epidermolysis Bullosa patients
An article published in Orphanet Journal of Rare Diseases attempts to understand the research issues that are important to patients suffering from Dystrophic Epidermolysis Bullosa (DEB) and their clinicians in order to prioritise the research efforts for DEB. Although there are several unanswered clinical question in DEB, funds are limited and hence it is crucial to prioritise research efforts. To estimate which questions need immediate attention, Davila-Seijo et al., followed the methodology of James Lind Alliance in the UK which helps in “identifying and prioritizing for research the treatment uncertainties which patients, carers and clinicians agree are the most important”. This study found that research on solving everyday problems of DEB patients was given precedence over finding novel therapies to treat the disease. The priority areas of research, in decreasing order of importance, included wound care, itch and pain management, neoplasms, syndactyly and finally researching novel treatments The authors feel that the success that they achieved in this study showed that this methodology can be used for prioritising research in other rare diseases as well.
Consult the open access article


Orphanet News

Orphanet abstracts now available in other languages
Orphanet prides itself on being accessible to patients all over the world in several languages. They have now broadened its reach by incorporating abstracts in Slovak and Greek. Over 100 abstracts are already online in Slovak and 24 abstracts in Greek. Orphanet will be soon announcing a full website in Dutch.
Abstracts in Slovak
Abstracts in Greek

New Edition of Orphanet report series: List of Orphan Medicinal Products in Europe
Earlier this year, Orphanet released a document which lists all medicinal products that are indicated for rare diseases in Europe (Report in OrphaNews Europe). This new edition includes the products whose orphan designation and/or market authorisation is withdrawn or removed. A new edition to this every 3 months to include changes in the status of orphan medicinal products in the European market.
List of Orphan Medicinal Products on Orphanet


New Syndromes

SLITRK6 homozygous mutations cause high myopia and deafness or isolated deafness
The authors report the first syndrome of severe early-onset myopia associated with sensorineural deafness without any other clinical manifestations. They describe two consanguineous families (one Amish and one Turkish) with at least three affected siblings suffering from high myopia (refraction error ranging from -6.0 to -11.0 diopters) and prelingual moderate to profound sensorineural hearing loss. In each family, they pointed a different homozygous mutation in SLITRK6 (SLIT and NTRK-like family, member 6), as responsible. When analysing 177 multiplex families with autosomal recessive deafness (congenital or prelingual-onset severe to profound sensorineural hearing loss), they found a third SLITRK6 homozygous mutation in a Greek family with two affected brothers, with no myopia in young adulthood. All three mutant SLITRK6 proteins displayed defective cell surface localisation.
Consult the PubMed abstract

To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

J Clin Invest ; 123(5):2094-102 ; May 2013
A new early-onset, fatal neurodegenerative syndrome involving cerebral cortex and basal ganglia linked to recessive mutations in BSCL2
After diagnosing and following an index patient with a Berardinelli-Seip congenital lipodystrophy (BSCL) phenotype and lethal neurodegeneration, the authors reviewed the charts of five other known patients with similar phenotype, retrospectively for four of them, and performed mutational and splicing analyses of BSCL2 (encoding the seipin protein, known to be deficient in Berardinelli-Seip congenital lipodystrophy type 2). They found that the six patients, belonging to four apparently unrelated pedigrees in the Murcia region in Spain, shared the same c.985C>T novel mutation in BSCL2. Splicing analysis showed that the c.985C>T mutation causes an aberrant splicing site leading to skipping of exon 7. The two homozygous patients suffered from progressive encephalopathy since ages 2-3 years and died at ages 6-8 years; they exhibited mild BSCL clinical features. Three compound heterozygous patients showed a typical BSCL phenotype, besides a neurological clinical course similar to that of the homozygous cases; they died at ages 7-8 years. A fourth compound heterozygous case, still alive (aged 42 months) when the article was written, showed a psychomotor delay. Postmortem brain examination of two cases revealed a pattern of regional degeneration, with major involvement of cortical areas and basal ganglia. Concerning the children parents, all, whether carrying the c.985C>T mutation or another BSCL2 mutation, were asymptomatic.
Consult the PubMed abstract

J Med Genet. ; 50(6):401-9 ; June 2013
A lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal haemorrhages due to a dynamin 2 homozygous mutation
The authors report the first homozygous mutation in the dynamin 2 (DNM2) gene in three consanguineous siblings with a lethal congenital syndrome. In utero, they exhibited decreased fetal movements and polyhydramnios, and emergency caesarian section was required. The three infants displayed no reflexes and suffered from severe hypotonia, respiratory insufficiency, joint contractures, and skeletal abnormalities with thin ribs and bones. They also showed retinal haemorrhages and MRI in two of them revealed signs of brain haemorrhages. All died between 5 days and 4 months of age. Muscle biopsies and EMG analyses showed features suggestive of congenital myopathy component in one patients and peripheral nerve involvement in the two others. Genetic studies revealed that all affected children carried a novel DNM2 mutation, c.1135 T>G, in the homozygous state, while their parents and unaffected siblings were heterozygous carriers. While dominant DNM2 mutations have been linked to Charcot-Marie-Tooth neuropathies and centronuclear myopathy, no sign of such conditions were detected in the unaffected siblings (aged 5 and 11 years). However, examination of the parents showed impaired reflexes, and muscular biopsy of the mother exhibited features of centronuclear myopathy.
Consult the PubMed abstract

Eur J Hum Genet. ; 21(6):637-42 ; June 2013

New Genes

Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) is caused by recessive mutations in DARS, encoding cytoplasmic aspartyl-tRNA synthetase
Consult the PubMed abstract
To read more about "Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation"

Am J Hum Genet. ; 92(5):774-80 ; May 2013
X-linked arthrogryposis multiplex congenita: ZC4H2 mutations identified in patients with intellectual disability
Consult the PubMed abstract
To read more about "Arthrogryposis multiplex congenita"

Am J Hum Genet. ; 92(5):681-95 ; May 2013
Congenital hypogonadotropic hypogonadism: SOX10, IL17RD, FGF17, DUSP6, SPRY4, FLRT3, and HESX1 may be faulty
Consult the PubMed abstracts
To read more about "Kallmann syndrome"
To read more about "Normosmic congenital hypogonadotropic hypogonadism"

Am J Hum Genet. ; 92(5):707-24;92(5):725-43 ; May 2013
Fertil Steril. ; pii: S0015-0282(13)00256-2 ; March 2013
Yunis-Varon syndrome: null mutations of FIG4 found responsible in affected individuals from three unrelated families
Consult the PubMed abstract
To read more about "Yunis-Varon syndrome"

Am J Hum Genet. ; 92(5):781-91 ; May 2013
Fanconi anaemia, Cockayne syndrome, and xeroderma pigmentosum/Cockayne syndrome complex: ERCC4 and ERCC1 mutations found at cause in four patients
Consult the PubMed abstracts
To read more about "Cockayne syndrome"
To read more about "Xeroderma pigmentosum/Cockayne syndrome complex"
To read more about "Fanconi anemia"

Am J Hum Genet. ; 92(5):800-6; 92(5):807-19 ; May 2013
Walker-Warburg syndrome: compound heterozygous mutations in SGK196 discovered in a family
Consult the PubMed abstract
To read more about "Walker-Warburg syndrome"

Science ; 340(6131):479-83 ; April 2013
Autosomal dominant limb-girdle muscular dystrophy type 1F is caused by a microdeletion in the transportin 3 gene (TNPO3)
Consult the PubMed abstract
To read more about "Autosomal dominant limb-girdle muscular dystrophy type 1F"

Brain ; 136(Pt 5):1508-17 ; May 2013
Isolated ATP synthase deficiency: an ATP5A1 defect responsible of fatal neonatal mitochondrial encephalopathy in two siblings
Consult the PubMed abstract
To read more about "Isolated ATP synthase deficiency"

Brain ; 136(Pt 5):1544-54 ; May 2013
Autosomal recessive primary microcephaly: a mutation in PHC1 implicates chromatin remodeling
Consult the PubMed abstract
To read more about "Autosomal recessive primary microcephaly"

Hum Mol Genet. ; 22(11):2200-13 ; June 2013
Sporadic pheochromocytoma and sporadic secreting paraganglioma: somatic EPAS1 (HIF2A) mutations involved in four patients without erythrocytosis
Consult the PubMed abstract
To read more about "Sporadic pheochromocytoma"
To read more about "Sporadic secreting paraganglioma"

Hum Mol Genet. ; 22(11):2169-76 ; June 2013
Renal-hepatic-pancreatic dysplasia: a homozygous nonsense mutation in NEK8 triggers multiple organ dysplasia
Consult the PubMed abstract
To read more about "Renal-hepatic-pancreatic dysplasia"

Hum Mol Genet. ; 22(11):2177-85 ; June 2013
Malignant migrating partial seizures of infancy: novel compound heterozygous mutations in TBC1D24 found responsible in two siblings
Consult the PubMed abstract
To read more about "Malignant migrating partial seizures of infancy"

Hum Mutat. ; 34(6):869-72 ; June 2013
Spondylometaphyseal dysplasia, Schmidt type (Algerian type): a COL2A1 mutation identified in a patient
Consult the PubMed abstract
To read more about "Spondylometaphyseal dysplasia, Schmidt type"

Mol Syndromol. ; 4(3):148-51 ; March 2013
Behcet disease: targeted resequencing implicates MEFV, TLR4, and NOD2 as susceptibility genes
Consult the PubMed abstract
To read more about "Behcet disease"

Proc Natl Acad Sci U S A ; 110(20):8134-9 ; May 2013
Acquired thrombotic thrombocytopenic purpura: report of CFH mutations in four patients with ticlopidine associated thrombotic microangiopathy
To read more about "Acquired thrombotic thrombocytopenic purpura"

Blood. ; 121(19):4012-3 ; May 2013

Research in Action

Clinical Research
AQP4-IgG-positive relapsing neuromyelitis optica: eculizumab significantly reduced attack frequency and stabilised or improved neurological disability in most of 14 patients
Consult the PubMed abstract
To read more about "Neuromyelitis optica"

Lancet Neurol. ; 12(6):554-62 ; June 2013
Idiopathic pulmonary fibrosis: no positive effect of ambrisentan and potential association with an increased risk for disease progression and respiratory hospitalisations
Consult the PubMed abstract
To read more about "Idiopathic pulmonary fibrosis"

Ann Intern Med. ; 158(9):641-9 ; May 2013
Adult Still's disease: anakinra remains dramatically effective in the long term, and dose tapering or discontinuation is associated with relapse in half of the patients
Consult the PubMed abstract
To read more about "Adult Still's disease"

Arthritis Care Res (Hoboken). ; 65(5):822-6 ; May 2013
Churg-Strauss syndrome: continued centre based interdisciplinary treatment may lead to normalisation of life expectancy and attenuation of disease progression
Consult the PubMed abstract
To read more about "Churg-Strauss syndrome"

Ann Rheum Dis. ; 72(6):1011-7 ; June 2013
Hereditary breast and ovarian cancer syndrome: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2
Consult the PubMed abstract
To read more about "Hereditary breast and ovarian cancer syndrome"

J Med Genet. ; 50(6):368-72 ; June 2013
Duchenne muscular dystrophy: LTBP4 haplotype influences age at loss of ambulation, and should be considered in the management of DMD patients
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Ann Neurol. ; 73(4):481-8 ; April 2013
Familial advanced sleep-phase syndrome: casein kinase iδ (CKIδ) mutations associated with migraine in two families
Consult the PubMed abstract
To read more about "Familial advanced sleep-phase syndrome"

Sci Transl Med. ; 5(183):183ra56 ; May 2013
Glial tumours: deciphering the 8q24.21 risk locus provides evidence for a candidate SNP underscoring an association confined to risk of low-grade subtypes
Consult the PubMed abstract
To read more about "Astrocytoma"
To read more about "Oligoastrocytic tumor"
To read more about "Oligodendroglial tumor"

Hum Mol Genet. ; 22(11):2293-302 ; June 2013
Congenital focal hyperinsulinism: hexokinase I expression and glucokinase-activating mutation in a subset of β-cells identified as new etiologies
Consult the PubMed abstract
To read more about "Congenital isolated hyperinsulinism"

Diabetes. ; 62(5):1689-96 ; May 2013
Gene Therapy
Leber congenital amaurosis: RPE65 gene therapy slows cone loss in Rpe65-deficient dogs
Consult the PubMed abstract
To read more about "Leber congenital amaurosis"

Gene Ther. ; 20(5):545-55 ; May 2013
Thrombotic thrombocytopenic purpura: AAV8-mediated expression of an ADAMTS13 variant prevents severe disease in model mice
Consult the PubMed abstract
To read more about "Acquired thrombotic thrombocytopenic purpura"
To read more about "Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency"

Blood. ; 121(19):3825-9 ; May 2013
Haemophilia A: a novel, more potent codon-optimised human FVIII variant is safe and efficacious in mice and nonhuman primates
Consult the PubMed abstract
To read more about "Hemophilia A"

Blood. ; 121(17):3335-44 ; April 2013
Therapeutic Approaches
Glial tumour: effectiveness of neural stem cell-mediated enzyme/prodrug therapy in mice gives the green light to a first-in-human study
Consult the PubMed abstract
To read more about "Glial tumor"

Sci Transl Med. ; 5(184):184ra59 ; May 2013
Rhabdoid tumours: SMARCB1 mutant tumours depend on EZH2 activity and an orally bioavailable small-molecule inhibitor of EZH2 induces tumour regression in model mice
Consult the PubMed abstract
To read more about "Rhabdoid tumor"
To read more about "Familial rhabdoid tumor"
To read more about "Atypical teratoid tumor"

Proc Natl Acad Sci U S A. ; 110(19):7922-7 ; May 2013
Pancreatic carcinoma: radioactive attenuated Listeria is a highly effective therapy against metastatic cancer in a mouse model, without appreciable side effects
Consult the PubMed abstract
To read more about "Familial pancreatic carcinoma"
To read more about "Pancreatic carcinoma"

Proc Natl Acad Sci U S A. ; 110(21):8668-73 ; May 2013
Fragile X syndrome: blockade of the endocannabinoid system is a potential therapeutic approach to normalise specific alterations
Consult the PubMed abstract
To read more about "Fragile X syndrome"

Nat Med. ; 19(5):603-7 ; May 2013
Systemic sclerosis: irbesartan, an angiotensin II receptor antagonist, prevents fibrosis and inflammation in model mice, showing promise especially for lung involvement
Consult the PubMed abstract
To read more about "Systemic sclerosis"

Arthritis Rheum. ; 65(5):1367-77 ; May 2013
Idiopathic and/or familial pulmonary arterial hypertension: activation of lung p53 by nutlin-3a prevents and reverses experimental disease
Consult the PubMed abstract
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Circulation. ; 127(16):1664-76 ; April 2013
Peripartum cardiomyopathy: microRNA-146a is a therapeutic target and a specific biomarker
Consult the PubMed abstract
To read more about "Peripartum cardiomyopathy"

J Clin Invest. ; 123(5):2143-54 ; May 2013
Nemaline myopathy: tested in muscle biopsies from patients with nebulin mutations, a novel troponin activator augmented muscle force
Consult the PubMed abstract
To read more about "Childhood-onset nemaline myopathy"
To read more about "Intermediate nemaline myopathy"
To read more about "Typical nemaline myopathy"
To read more about "Severe congenital nemaline myopathy"

J Med Genet. ; 50(6):383-92 ; June 2013
Diagnostic Approaches

Heparin-induced thrombocytopenia: two novel diagnostic assays (KKO-inhibition and DT40-luciferase tests) may improve the specificity and feasibility of laboratory testing
Consult the PubMed abstract
To read more about "Heparin-induced thrombocytopenia"

Blood. ; 121(18):3727-32 ; May 2013
Constitutional mismatch repair deficiency syndrome: a simple screening methodology to detect germline microsatellite instability in patients with PMS2 or MSH2 mutations
Consult the PubMed abstract
To read more about "Constitutional mismatch repair deficiency syndrome"

Hum Mutat. ; 34(6):847-52 ; June 2013

Patient Management and Therapy

Erdheim-Chester disease multifaceted clinical presentations and manifestations: a comprehensive review of the literature and of 10 new cases
Consult the PubMed abstract
To read more about "Erdheim-Chester disease"

Ann Rheum Dis. ; Epub ahead of print ; February 2013
Pulmonary hypertension: a US clinical practice document to differentiate among the different causes and adapt management
Access to the article via PubMed
To read more about "Chronic thromboembolic pulmonary hypertension"
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"
To read more about "Pulmonary hypertension owing to lung disease and/or hypoxia"
To read more about "Rare pulmonary hypertension"

Ann Intern Med. ; 158(9):ITC5-1 ; May 2013
Whipple disease: a review on recent scientific advances concerning infection, latest methods for diagnosis of classic and localised chronic infection, and empirical treatment
Consult the PubMed abstract
To read more about "Whipple disease"

Ann Rheum Dis. ; 72(6):797-803 ; June 2013
Systemic-onset juvenile idiopathic arthritis: pulmonary arterial hypertension, alveolar proteinosis, and interstitial lung disease are underrecognised complications
Consult the PubMed abstract
To read more about "Systemic-onset juvenile idiopathic arthritis"

Arthritis Care Res (Hoboken). ; 65(5):745-52 ; May 2013
Management of chronic pancreatitis: a review on management
Consult the PubMed abstract
To read more about "Hereditary chronic pancreatitis"
To read more about "Tropical pancreatitis"
To read more about "Autoimmune pancreatitis"

Gastroenterology. ; 144(6):1282-1291 ; June 2013
Three Clinical Utility Gene Cards 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 three new Clinical Utility Gene Cards for:

Osteogenesis imperfect
Familial polycythaemia vera
List of Clinical Utility Gene Cards


Orphan Drugs
Regulatory News

10 positive opinions recommending orphan designation at the May 2013 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted ten positive opinions issued at the May 2013 COMP meeting for the treatment of:

- Cystic fibrosis
- 3 treatments for Retinitis pigmentosa
•      Adenovirus associated viral vector serotype 5 containing the human pde6β gene
•      Expanded human allogeneic neural retinal progenitor cells extracted from neural retina
•      Unoprostone isopropyl
- Soft tissue sarcoma
- Acute liver failure
- mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
- Amyotrophic lateral sclerosis
- Pachyonychia congenita
- Squamous cell carcinoma of the head and neck in patients undergoing radiotherapy


Ilaris approved by FDA for the treatment of rare juvenile arthritis
FDA has recently approved Ilaris, an interleukin-1 beta inhibitor, the only treatment of systematic juvenile idiopathic arthiritis (SJIA) developed by Novartis. SJIA is a rare form of childhood arthritis that can affect children as young as 2 years old and it is often difficult to treat. Ilaris works by acting as an anti-inflammatory agent by neutralising the effect of IL-1. According to Novartis, the Phase III trials of Ilaris showed that patients aged 2-19 showed great improvements in the condition of 84% of patients. Novartis also plans to study the effct of Ilaris on other rare diseases which do not currently have any treatment options.
Novartis press statement on the approval of Ilaris

Me-better drug Procysbi, approved by FDA for management of nephropathic cystinosis
FDA has also approved Procysbi to treat a rare genetic disorder that causes the build-up of cystine in every cell of the body, the most damaging condition being nephrotic cystinosis which is the build of cystine in the kidneys. Other drugs available for the management of cystinosis include Cystagon and Cystaron which have the same active ingredient, cysteamine bitartrate. Raptor Pharmaceuticals, marketer of Procysbi, contends that the safety and efficacy profile of Procysbi is comparable to Cystagon but also contends that it is superior to other currently available drugs in managing Cystinosis due to its delayed release properties. Although Procysbi is a more tolerable version, it is about 30 times more expensive than the other drugs for Cystinosis which has caused some controversy.
FDA statement on approval of Procysbi



Funding available to investigate treatment for plexiform neurofibroma
The Neurofibromatosis Therapeutic Acceleration Program (NTAP) invite proposals for projects that help the acceleration of the development of effective treatment of plexiform neurofibromas at any time. Application deadline is June 14 2013 .
NTAP is a privately funded research program housed within Johns Hopkins University in Baltimore, Maryland who have funded several research projects that advance the knowledge of Neurofibromatosis.
For further details

NORD announces seed grants for rare disease research
NORD has announced funding opportunities in 6 areas of rare disease research. NORD has invited applicants from within the US and overseas to apply with a letter of intent by 15 May 2013. Full proposals are due by 11 September 2013. Researchers with projects in the following areas are encouraged to apply

RFPs for Pseudomyxoma Peritonei (PMP), Spring 2013
Two grants are available through NORD ($50,000/grant) for research related to Pseudomyxoma Peritonei (PMP).

RFP for Growth Failure in Children with Cardiofaciocutanous (CFC) Syndrome
Funding is available ($30,000) for research on growth failure in children with cardiofaciocutaneous (CFC) syndrome.

RFP for Glycine Encephalopathy, aka Nonketotic Hyperglycinemia, Spring 2013
Funding for research related to Glycine Encephalopathy, aka Nonketotic Hyperglyinemia, is available through NORD's Research Seed Grant Program ($34,000).

RFP for Adult Primary Lateral Sclerosis (PLS)
Funding is available ($30,000) for research on Primary Lateral Sclerosis (PLS).

RFP Available for Research Related to Dubowitz Syndrome
Funding is available ($30,000) for research on Dubowitz Syndrome
For further details

The Rare Disease Foundation launches second call for research projects in 2013 'High throughput sequencing and rare diseases'
This call for proposals is dedicated to the identification of new genes involved in rare diseases by Exome Sequencing. Deadline for submission of proposals: 20 June, 2013 . Further details


Courses & Educational Initiatives

International Summer School “Clinical practice guidelines on rare diseases”
Date: 8-12 July, 2013
Venue: Rome, Italy

Istituto Superiore di Sanità is inviting applications from participants who would like to learn more about development process of clinical practice guidelines.
The following topics will be covered:
o Identifying key clinical issues to be included (scope)
o Developing review questions using PICO and planning the systematic review
o Identifying evidence: formulating, executing and documenting a search strategy
o Assessing the quality of relevant studies, summarizing and interpreting the body of evidence to make recommendations
o Obtaining formal consensus in the absence of evidence (Delphi-like method)
o Appraising synthesis documents: guidelines and systematic reviews
The course format consists of brief presentations followed by individual or small group exercises.
This course is free of charge and application/registration is currently open. Please, feel free to circulate this information to those who may have an interest in attending.
For further details

The 1st radiz Rare Diseases Summer School
This course has been announced for 4-6th July 2013 in Zurich, Switzerland and will focus on a wide variety of subjects in the area of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. These will be presented in the form of lectures by international experts on rare diseases. Please apply by sending a short CV, a letter of motivation including a brief description of your project or research interest, and one letter of recommendation to saskia.karg@kispi.uzh.ch. For further details

What's on Where?

4th International DSD (Disorders of Sex Development) Symposium
Date: 7-9 June 2013
Venue: Glasgow, UK

This symposium should be of interest to health care staff, clinical and basic scientists and parent & patient support groups. Plenary Sessions planned include: Priorities for the Future, Drug-based Therapeutic Interventions, Care & Communication, Navigating the Information Highway, Management of the Retained Gonad.
For further details

European Human Genetics Conference 2013
Date: 8-11 June 2013
Venue: Paris, France

This international conference organized by the European Society of Human Genetics focuses on the current and future advancements in human and medical genetics.
For further details

12th European Symposium on Congenital Anomalies
Date: 12-14 June 2013
Venue: Zagreb, Croatia

Topics include 50 years after thalidomide therapy, Childhood morbidity and mortality due to congenital anomalies, Medication in pregnancy, Prevention of congenital anomalies, Prenatal diagnosis, Preconceptional and prenatal care, Environmental risks, Outcomes of children with a congenital anomaly, Public health policies, Genetics of congenital anomalies, Health care for children with congenital anomalies
For further details

10th HHT Scientific Conference
Date: 12-15 June 2013
Venue: Cork, Ireland

HHT is a genetic disorder that causes abnormalities of blood vessels. The conference will include presentations on basic research on HHT to clinical research, drug development as well as policy issues.
For further details

World Orphan Drug Congress Asia
Date: 18 June 2013
Venue: Singapore

This commercial one-day event will bring together orphan drug manufacturers and developers to expedite orphan drugs for patients.
For further details

6th International Conference on Children's Bone Health
Date: 22-25 June 2013
Venue: Rotterdam, Netherlands

The conference is to try to get a better understanding in healthy and disease states of bone development by discussing molecular pathways as well clinical characteristics.
For further details

Cardio-Facio-Cutaneous (CFC) meeting; strategies to study RASopathies and other rare diseases
Date: 24 June 2013
Venue: Haifa, Israel

This meeting will review the RAS pathway related developmental anomalies (RASopathies) with a focus on the CFC molecular and cellular mechanism of action as well as different therapeutic strategies for rare diseases.
For further details

Fifth BHD Symposium and Second HLRCC Symposium
Date: 28-29 June 2013
Venue: Paris, France

This conference will be an excellent opportunity for stakeholders of Birt-Hogg-Dubé Syndrome to participate and network. The conference will comprise of invited lectures by worldwide experts, followed by panel discussion, and will also include a poster exhibition
For further details

9th European Cytogenetics Conference
Date: 29 June - 02 July 2013
Venue: Dublin, Ireland

An opportunity for cytogeneticists to come together to discuss developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further details

Myasthenia 2013
Date: 1-2 July 2013
Venue: Paris, France

Supported by the European FIGHT-MG network, this conference aims to bring researchers, scientists, clinicians and patients together to discuss current progress on Myasthenia Gravis (MG). The conference will cover mechanisms of autoimmunity, contribution of the genetics, hormones and environment on aetiology, potential therapies and psychological changes of MG patients.
For further details

LeukoTreat Final Public Conference
Date: 3-6 July 2013
Venue: Berlin, Germany

The LeukoTreat project funded by the European Commission under the 7th Framework Programme for Research and Development aimed at developing therapeutic strategies for leukodystrophy (LD) as well as more common white matter disorders and neurodegenerative diseases. In this final conference the results of the project will be presented and discussed.
For further details

Haemophilia centres certification system across Europe
Date: 11 July 2013, 9:00 a.m. - 1:30 pm
Venue: Rome, Italy

The objective of the Meeting is the exchange of accreditation and certification experiences in use in different EU Member States. During the event the new European Standards for Haemophilia Centres developed in the context of EUHANET project (www.euhanet.org) will be presented to be followed by a national seminar for Italian Regional Authorities on the implementation of a guideline for HCs institutional accreditation approved by the State-Regions Agreement of March 12, 2013
For further details go to www.centronazionalesangue.it

8th International Prader-Willi Syndrome Conference
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details

International Congress of Inborn Errors of Metabolism
Date: 3-6 September 2013
Venue: Barcelona, Spain

The organisers have put together an ambitious and high level scientific programme, allowing the participation of multidisciplinary delegates where important topics and cutting edge research on inborn errors of metabolism will be discussed.
For further details

Orphan Drugs Summit 2013
Date: 11-13 September 2013
Venue: Copenhagen, Denmark

This commercial event will highlight several burning topics revolving market authorisation of Orphan Medicinal Products such as market access, regulatory framework, clinical trial development as well as financing.
For further details

2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts'
Date: 17-18 September 2013
Venue: Salzburg, Austria

The conference will present and discuss the work packages initiated during the 2012 EB clinet meeting.
For further details

Second Symposium on ATP1A3 in disease Genotype/Phenotype Correlations, modelling and identification of potential targets for treatment
Date: 23 - 24 September 2013
Venue: Rome, Italy br>
The aim of this Symposium is to present the progress of research undertaken on Alternating Hemiplegia of Childhood (AHC), after the finding of the ATP1A3 gene as the primary cause of this rare neurological disease. The symposium also aims to promote international collaboration and recruit new teams of researchers. Clinical aspects of the disease such as genotype/phenotype correlations will also be highlighted as well as possibilities towards the establishment of clinical trials for AHC.
For further details

1st Iberoamerican Conference on Rare Diseases
Date: 24 - 25 September 2013
Venue: Brasilia, Brasil br>
This event will be held at University of Brasilia, Catholic University of Brasilia, where stakeholders of rare diseases nationally and internationally will be coming together to share their views .
For further details

Mitochondrial Disease: Translating biology into new treatments
Date: 2-4 October 2013
Venue: Cambridge, UK

This is a brand new conference that will discuss mitochondrial medicine. During this interactive conference several experts will speak about translational mitochondrial medicine. Abstracts are due by 16 July 2013 and the registration deadline is on 20 August 2013
For further details

The 10th Balkan Congress of Human Genetics and 2nd Alps Adria Meeting on Human Genetics (AABC2013)
Date: 10-12 October 2013
Venue: Bled, Slovenia

This congress will deal with several issues pertaining rare genetic disorders, with sessions focusing exclusively on rare human disease.
For further details

Orphan Drugs and Rare Diseases
Date: 14-15 October 2013
Venue: London, UK

This commercial orphan drugs conference focuses on the current rare diseases drug development landscape where world leading expert speaking faculty will highlight cutting edge research via case studies taking place in previously untreatable patients with highly rare diseases, current regulatory policies involving the FDA & EMA, new drug discoveries and partnerships in clinical trials and drug development with patient groups.
For further details

Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
Date: 17-18 October 2013
Venue: Marseille; France

This event, jointly organised by Eudipharm, F-Crin and OrphanDev, will aim to address issues that to help fill the current discrepancies in translational research for rare diseases and creating awareness of clinical research sectors.
For further details

3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
Date: 17-19 October 2013
Venue: Maastricht, The Netherlands

This conference aims to gather renowned researchers and clinicians working in the area of Rett Syndrome, to encourage interdisciplinary international cooperation. The conference also aims to provide stakeholders with the latest information on treatment of symptoms as well as preventative manangement.
For further details

World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
Date: 24-27October 2013
Venue: Monaco, Principauté de Monaco

This international conference will cover a wide range of topics including cord blood transplant in adults and children, the role of HLA in cord blood transplant, stem cells, cord blood banking and regulatory issues. The scientific programme comprises of an international panel of distinguished scientitists and clinicians with a special session on sickle cell disease. This conference is open to all professionals working in fields related to cord blood biology and clinical applications from both public and private sectors, including physicians, research scientists, technicians, data analysts, nurses as well as healthcare policy makers.
For further details

First International Primary Immunodeficiencies Congress (IPIC)
Date: 7-8 November 2013
Venue: Estoril, Portugal
The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
For further details

World Orphan Drug Congress 2013
Date: 14 November 2013
Venue: Geneva, Switzerland

This commercial conference and exhibition bringing together buyers, sellers and key influencers from across the orphan and rare disease industry. Having welcomed over 1000 orphan and rare disease stakeholders in only its 3 year history, the event in Europe’s logical choice for Biotech and Pharma orphan drug players who want to meet Rare Disease Networks, Patient Groups, COMP Members, HTA Experts, Regulators and Payers.
For Further Information

XIIIth International Congress on Neuromuscular Diseases (ICNMD)
Date: 5-10 July 2014
Venue: Nice, France

ICNMD is regular meeting of the Research Group on Neuromuscular Diseases-World Federation of Neurology that takes place every 4 years for the past 50 years. This conference will present a unique opportunity for sharing scientific advances by those involved in the fields of improving care, understanding disease pathogenesis, and developing innovative treatments in muscle, neuromuscular junction, peripheral neuropathies and motor neuron diseases.
For further details

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


Media, Press & Publications

Special issue on non-invasive prenatal testing
The rapid and high-quality advancements in the area Non invasive prenatal testing and screening (NIPT&S) has been exceedingly encouraging and is a widely discussed topic especially among the rare disease community. Due to the wide amount of interest garnered by NIPT&S, the May 2013 issue of Prenatal Diagnosis is entirely dedicated to this subject. The issue covers a large amount of current topics as well as the several questions in this field that are under intense scrutiny. Several interesting reviews discuss how prenatal tests can be performed in the context of available tests, the commercial viability of prenatal tests in U.S detailing the cost and reimbursement of prenatal tests, as well as the future potential of these tests in single gene disorders and also it the outlook of NIPT in targeted v/s whole genome sequencing. The original research articles include topics such as the drastic reduction of invasive testing after the introduction of NIPT, comparisons of aneuploidy screening with first trimester combined screening US and technological issues of massively parallel sequencing and how it can be used to detect other conditions such as malignancy.
Consult the Table of Contents of Prenatal Diagnosis (May 2013 issue)


Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews International 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

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

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)
For more information on the European Union Committee of Experts on Rare Diseases
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