17 February 2015 print
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Mechanisms of support for rare cancers in France

The French National Cancer Institute (INCa) recently published their annual "Synthesis of oncogenetic activity 2013” which reviews the various mechanisms established to manage the issue of rare cancers in France as well as the propositions for the 2014-2019 French National Cancer Plan. This plan is built around three main themes: rare adult cancers, paediatric cancers (all of which are rare cancers) and hereditary forms of cancer. The incidence (number of new cases per year) used to define the rarity of cancer, according to the European consensus, is 6 new cases per 100,000 in the European population.

Rare adult cancers
Set up in 2009, the plan takes into account cancers with low incidence or cancers requiring highly specialised care due to the particular location of the cancer (for eg., uveal melanoma, peritoneal tumours), their occurrence in specific people (for eg., neoplasia in pregnant women), or for their complexity (for eg., soft tissue sarcoma, anaplastic oligodendroglioma). It aims to improve the diagnosis and the treatment of these cancers. To this end, twenty-two regional or interregional expert centre networks coordinated by a national expert centre were established. This organisation enables a systematic double reading of tumour biopsies (pathology) to improve diagnostic certainty and allow all patients to benefit from collegial and specialised care. Access to innovative treatments through the inclusion of patients in clinical trials is promoted. Finally, a major role in improving the knowledge of rare cancers and their treatment by producing recommendations and disseminating information to relevant parties is envisaged. Patient associations, and of course, Orphanet, play an active role towards improved diagnosis and treatment.
For more information on the specific treatment of rare cancers
Learn more about the specific organisation that supports rare adult cancers in France

Paediatric cancers
Even though all cancers in children and adolescents are rare (2500 new cases each year in France), it is the second cause of death for people under 14 and the third leading cause of death for 15-18 years. The management of paediatric cancers is organised through 47 health facilities and 7 interregional centres specialising in paediatric oncology and meet specific criteria in order to be identified as such. All patients benefit from multidisciplinary paediatric interregional cooperation which ensures that they receive high levels of expertise required to diagnose and treat the specificity of these pathologies. INCa has thus identified platforms requiring technical expertise or experience (hematopoietic stem cells, tumours of the musculoskeletal system, brain tumours, implementation of early trials and radiotherapy). The 3rd French National Cancer Plan (2014-2019) aims to:
- Improve the access of children, adolescents and young adults to innovation and research,
- Ensure comprehensive support beyond the care related to cancer so that everyday life can continue for the child and his family,
- And better prepare and monitor the child and family in the post-cancer period.
The tools provided by INCa to combat cancer afford prominence to patient organisations that are committed to support and provide information to patients and their families, but also in the quality of care and research.
To learn more

Hereditary forms of cancer and cancer genetics
In France, approximately 5% of cancers are associated with an inherited genetic disorder, which increases the predisposition of these individuals to cancer. All hereditary cancers are rare, the most common of which are breast cancer, ovarian cancer and Lynch syndrome. In France, oncogenetics consultations are organised through 126 clinical sites in 48 health facilities and 25 genetic laboratories. Synthesis oncogenetics activity that has just been published reports an increase in the activity of these consultations, which supports both the index case (in whom the deleterious mutation is identified) as well as the family. A 15% increase in consultations on new families was recorded, echoing a growing number of index cases being found.
Apart from the management of patients, 28 molecular genetic platforms also examine the genetic characteristics of tumours to offer a personalised care and targeted, innovative therapy for both rare and common cancers. For few cancers, such as gastrointestinal stromal tumour or glioblastoma, the detection of genetic abnormalities also provides access to a targeted therapy. In this context, the FSCA programme (Secure access to innovative targeted therapies) was set up to allow patients experiencing treatment failure and whose tumours have certain genetic abnormalities easier and safe access to clinical trials of novel therapies. The program, made possible through a partnership between INCa and MSNA (Agence française de sécurité sanitaire des produits de santé) is promising this in the context of rare cancers. The 3rd Cancer Plan will also implement a comprehensive analysis of genome sequencing with a goal of sequencing tumours from 50,000 patients by 2019. A national platform for genomics and data analysis of cancer will be created to fuel this research.
Read the summary of the 2013 French Oncogenetic Activity Report
Read the 2013 Activity Report of French Hospital Molecular Genetics Platforms


Spotlight on...
Rare Disease Day: 8 years on and still going strong
Rare Disease Day 2015 plans to break previous records on building awareness for rare diseases. With more than 80 countries, hundreds of organisations and thousands of people participating, this event promises to be an immense form of support for rare disease patients. Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. Even though the campaign started as a European event, it has progressively become a world phenomenon, with the USA joining in 2009, and participation of record-breaking 84 countries around the world in 2014 and many more joining in for the 2015 Rare Disease Day. Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases, while the campaign is on to make 2019 the year for Rare Diseases.

Many are contributing in the form of organising conferences, festivals, dinners, walks, media campaigns, concerts, and much more! Anyone can show their support by participating in the several avenues open to advance the cause of rare diseases patients around the world. Post your Event and upload details of your event or find out about events taking place near you. You can Download the official Rare Disease Day communication materials here or stay up to date with the latest Rare Disease Day news. Or simply create greater awareness for this day by informing the wider public through your facebook and/or twitter account.

Together we are strong is the slogan for this year’s Rare Disease Day event and it has been seen before the might of people coming together to raise awareness for Rare Diseases. The day has gained social and political momentum serving advocacy purposes as well as contributing to the advancement of national plans and policies for rare diseases in a number of countries.

EURORDIS is holding a policy event as a precursor to the Rare Disease Day 2015, inviting you to join people living with a rare disease and policy makers at a unique face-to-face discussion event. This EURORDIS Policy Event will also include contributions from patients who have had a ‘Rare but Real’ game-changing influence on policy. Held in Brussels, Belgium on 24 February, 2015 (10:30 - 13:00), this event is open to the public (please register here). If you are unable to attend in Brussels you can also watch a live stream video of the event online and participate in the discussion by submitting questions at eurordis.org/rareeu2015. Online participants can also take part in the discussion by submitting questions via Twitter using #RareEU2015. Any questions that you tweet with this hashtag will be displayed next to the live video stream.

On the following day (25 February, 2015), Eurordis will also host the 22nd Workshop of the EURORDIS Round Table of Companies with the theme “Rare Diseases: Going Global”. The objectives of this workshop are multifold as it will discuss the current strategic initiatives addressing research information and patient advocacy, spearheading projects to increase awareness, promote access to information and facilitate international connection of patients. The workshop will also discuss the existing challenges and future of pharma & biotech companies operating internationally and how to demonstrate and increase in collaborative efforts among stakeholders.
22nd Workshop of the EURORDIS Round Table of Companies


National & International Policy Developments
Australia and New Zealand navigating the orphan drug price conundrum
Australia and New Zealand are independently analysing how they can best serve rare disease patients in their country. Due to the efforts of several grassroots patient organisations that are campaigning for better support of rare disease patients in the ANZAC area, there is an ongoing effort to steer policies to benefit them, especially by providing an increased access to orphan drugs. These efforts have been editorialised by stakeholders in prominent journals.

An editorial published in the Journal of Paediatrics and Child Health describes the price-battle that rare disease patients go through in Australia. Currently, Australia has a Life-Saving Drugs Program benefiting just over 200 patients reimbursing drugs for 7 separate rare disorders. According to the author, there are more drugs that are awaiting subsidies from the government but the exorbitant prices set by the pharmaceutical companies make the scenario unsustainable. The author deems the price charged by the pharmaceutical companies for a drug is much more than what they spend on its development, which according to the author is a global problem. The editorial also raises the ethics of spending more on a small number of rare disease patients vis-à-vis a larger number suffering from common ailments. The author believes that building better business models to make pharmaceutical companies reduce the prices and behave ethically is the answer to get better and fairer treatment for rare disease patients.
Access the article

Another editorial by members of the Australian Pharmaceutical Benefits Advisory Committee (PBAC) has been published in the Bulletin of the World Health Organization. The Pharmaceutical Benefits Scheme (PBS) is a programme of the Australian Government that provides subsidised prescription drugs to residents of Australia, based on the recommendations are made by PBAC - an independent body consisting of researchers, doctors, health economists etc. This editorial illustrates a need for radical changes to the current commercial model for drug development that is global, not relegated to Australia or any other country acting in isolation. The authors state that methods to subsidise drugs have to be re-evaluated due to recent approvals of high-priced medicines. Additionally, the authors recognise that many trials submitted for regulatory review are inadequate to make subsidy decisions and patients are increasingly asking for early access to drugs. A global rethinking of the objectivity and equity of these high priced drugs is stipulated by the authors. A global forum that clarifies methods needed to manage the early entry of promising products, promote a new pricing model, set appropriate research priorities and outcomes is the way forward.
Access the article

In New Zealand, similar challenges are met by rare diseases patients where subsidising orphan drugs is a highly contentious issue. There is an ongoing struggle between the rare disease organisations and New Zealand’s pharmaceutical management agency (PHARMAC) due to the latter’s stance on reimbursement for orphan drugs. An editorial by the chief executive of PHARMAC in the Bulletin of the World Health Organization describes a strategy of PHARMAC to combat the price struggle.

The author questions the validity of the reasons provided by the pharmaceutical companies for charging exorbitant prices for orphan drugs (high developmental costs). According to the author a method to make pharmaceutical companies charge lower prices is by increasing competition. Currently NZ$ 5 million per year has been earmarked to fund medicines for rare disease patients. PHARMAC, along with consultations with several experts, developed a set of prerequisites for medicines that would be eligible for consideration for these funds. The pharmas then submitted their proposals (in September 2014), and PHARMAC is currently assessing the products for subsidies and will decide on the list shortly. The author states that using this competition-based strategy for orphan drugs is appropriate as it was used in New Zealand previously to provide the lowest prices for medicines in the world. Although, it should be noted that there are several challenges associated with applying strategies that have been useful for non-orphan drugs to orphan drugs.
Access the article
Other European news
United Kingdom parliament approves licencing for clinics to perform mitochondrial replacement therapy
The United Kingdom (UK) parliament have voted to move ahead with mitochondrial replacement therapy that could allow women who carry disease-causing mutations in their mitochondrial genes to give birth to genetically related children free of mitochondrial disease. Two methods have been prescribed - embryo repair and egg repair - to create a healthy offspring. Embryo repair involves fertilisation of the two eggs with sperm, creating an embryo from the intended parents and another from the donors. After fertilisation, the pronuclei, which contain genetic information, are removed from both embryos. A healthy embryo is created by adding the parents' pronuclei to the donor embryo (containing the donor mitochondria), which is finally implanted into the womb. The egg repair is similar, except that the mother's genetic material is inserted into the donor egg, which can be then fertilised by sperm.

Earlier last year, the Department of Health commissioned the Human Fertilisation and Embryology Authority (HFEA) to reconvene its expert panel of scientists to conduct a review into the safety and efficacy of techniques relating to mitochondrial replacement. The panel was clear that it had seen no evidence which suggested that mitochondrial replacement is unsafe and that good progress was being made on the science. Following these recommendations, the UK House of Commons voted overwhelmingly to pursue this treatment that could prevent certain kinds of genetic diseases. If approved by the House of Lords, this decision will allow the HFEA to grant licenses for experimental use of the technique in humans. As the regulator, the HFEA will then proceed to design and implement a process to ensure that clinics are licensed against rigorous standards. The first attempt could take place this year, which could lead to the first birth in 2016.
Visit the HFEA website
Read more in Nature

Other International News
The Japan Prize Foundation awarded to gene therapy pioneers
The Japan Prize Foundation has recently awarded Alain Fischer, director of the Imagine Institute, and Theodore Friedmann for their pioneering work on gene therapy. Both have been instrumental in bringing the cutting edge technology of gene therapy that is currently pursued by many researchers and pharmaceutical companies as treatments for genetic disorders. Prof. Friedmann, who is considered the “father of gene therapy”, overcame many adversities to propose the concept of gene therapy. His laboratory worked tirelessly to demonstrate the effectiveness of hematopoietic stem cell gene therapy in an animal model during the 1970s. The work that Dr. Friedmann pioneered has contributed to the development of core technologies surrounding today’s transgenic vectors. Not only did Dr. Friedmann pioneer gene therapy, he is also at the forefront of addressing the ethical issues that circumscribe this field.

Appropriately, Prof. Fischer was also awarded the Japan Prize for discovering the world’s first clinically proven gene therapy for children with fatal X-linked severe combined immunodeficiency (X-SCID). Along with his colleague Marina Cavazzana-Calvo, Prof. Fischer published the first account of the breakthrough clinical success of this therapy in early 2000. The effectiveness of gene therapy was shown to surpass the traditional hematopoietic stem cell transplantation. Despite early setbacks, Dr. Fischer worked tirelessly to identify the random insertion into a proto-oncogene gene drug, which caused leukemia in some patients and continued to work on validating the safety and effectiveness of this therapy.
Visit the Imagine Institute website
Further information on the Japan Prize

President of United States earmarks US$215 million towards ‘Precision Medicine’
The President of the United States (US) has proposed to launch a multiagency initiative in the 2016 fiscal year, to build a cohort of 1 million American volunteers for genomics and other biomedical research. The US$215 million earmarked to gather medical records and genomic data will be utilised to create a databank. The resulting databank will contribute to advancing the knowledge of the underlying biological causes of diseases with an aim to develop “Precision Therapies” for these diseases. Such large cohort studies of both healthy and sick people that represent the general population—often referred to as biobanks—are already established in countries such as the United Kingdom and Japan. The US cohort will be assembled by linking existing cohort studies. Participants will be asked to give consent for extensive characterisation of biologic specimens (cell populations, proteins, metabolites, RNA, and DNA — including whole-genome sequencing, when costs permit) and behavioural data, all linked to their electronic health records. According to Francis Collins, the Director of NIH, this endeavour will create a repository that is superior to a biobank.

The details of how the funds would be apportioned are mentioned below:
• “$130 million would go to the National Institutes of Health, covering the first steps of recruiting and sequencing patient volunteers.
• $70 million would go to NIH's National Cancer Institute to help decode which genes drive tumor growth and spotlight new therapies to block them.
• $10 million would go to the FDA, allowing the agency to bring in the technology and expertise it will need to regulate such targeted treatments.
• And $5 million would go to the Office of the National Coordinator for Health Information Technology, which will work to protect patient privacy and data security as the Precision Medicine Initiative comes together.”

According to the President, the objectives of this initiative are multifold as it not only intends to create a voluntary national research cohort and move towards more and better treatments for cancer, but also aims to work towards better privacy protection, modernise regulatory processes and enhance public-private partnerships. The US Congress and Senate will have to ultimately approve the spending on the initiative, which will be part of the 2016 budget.
Read the article in New England Journal of Medicine
Read more on the intiative

Guidance Documents and Recommendations
AL amyloidosis: two guidelines on the diagnosis and management
Consult the Pubmed abstracts
To read more about "AL amyloidosis"

Br J Haematol. ; 168(2):207-18; 186-206 ; January, 2015
Bioinformatics, Registries and Data Management
The TREAT-NMD DMD Global database and its usage to develop treatment strategies

An article published in the Human Mutation analyses the type and frequency of patient specific mutations that give rise to Duchenne Muscular Dystrophy (DMD). TREAT-NMD DMD Global database, a locus specific database (LSDBs) for DMD derived from UMD-DMD database, was utilised for the analyses of 7149 DMD mutations. The authors observed 5682 large mutations, of which 4894 were deletions (1 exon or larger), and 784 were duplications (1 exon or larger), most of which resulted in frame shift mutations. Also observed were 1445 small lesions but large deletions were the most prevalent genetic mutation recorded and accounted for 68% of the total mutations analysed, deletion of exon 45 being the single most common large deletion. The authors believe that Mutations identified within the database would potentially benefit from the two most promising forms of therapy that are being developed - non-sense read through and exon skipping therapy. Around 10% of mutations would benefit from stop codon read-through therapy, while 55% of total mutations and 80% of deletions would benefit from exon skipping therapy. The authors believe that this study is especially important as it could potentially lead to targeted therapy, serving as a paradigm to treat several rare diseases.
Visit the Treat NMD database
Read the PubMed abstract

Screening and Testing
Noninvasive prenatal testing sensitive in a large population
In a study published in Ultrasound Obstetrics and Gynecology, the authors tracked the clinical performance of the company's sequencing-based non-invasive prenatal testing in nearly 150,000 pregnancies. The authors demonstrated that the performance metrics of earlier smaller studies of NIPT — such as sensitivity and specificity, false-positives, or false-negatives — largely hold true in the context of a dramatically expanded group of clinical samples. Overall, the team reported on 146,958 samples from 508 medical centres in mainland China tested successfully between early 2012 and mid-2013 for Trisomy 21, 18, and 13. The study also showed that the test's performance did not differ substantially among higher- and lower-risk women. The results also suggested that high quality NIPT service can be achieved at NGS-based clinical labs with strict protocols and standards.
Read the PubMed abstract

Online self-report data for Duchenne Muscular Dystrophy confirms natural history and can be used to assess for therapeutic benefits
An study published in PLOS Currents Muscular Dystrophy has published an article assessing the utility of online patient self-report outcomes in a rare disease. The authors wanted to observe the effects of corticosteroids in delaying age at fulltime wheelchair use in Duchenne muscular dystrophy (DMD) using data from 1,057 males from DuchenneConnect, an online registry. The authors found that the online self-report data were sufficient to retrospectively observe that current steroid use by patients with DMD is associated with a delay in loss of ambulation. This study demonstrated the utility of DuchenneConnect data to observe therapeutic differences, and highlights needs for improvement in quality and quantity of patient-report data, to explore drug/therapeutic practice combinations.
Read the PubMed abstract


Ethical, Legal & Social Issues
Depomed successfully sues the FDA over its interpretation of the Orphan Drug Act
Recently, Depomed, Inc., sued the U.S. Department of Health and Human Services (of which the FDA is an agency) for their refusal to grant market exclusivity to Gralise - a drug with an orphan designation for after-shingles pain (also known as postherpetic neuralgia, or PHN). Initially the FDA refused to grant an orphan designation to Gralise as FDA had already approved a drug in 2002 for the treatment of PHN but it did not have an orphan designation and therefore asked for studies on clinical superiority of Gralise. Depomed argued that because the drug approved for the treatment of PHN did not have an orphan designation, it did not need to provide evidence of clinical superiority to satisfy that requirement for Gralise’s orphan drug designation application. The FDA eventually granted the request for designation as an orphan drug but stated that Depomed must prove clinical superiority to obtain marketing exclusivity. Depomed then brought its case to court where the court ruled in their favour. The court found the plain language of the Orphan Drug Act unambiguously required the FDA to recognise that any drug that has an orphan designation and approved for marketing authorisation is entitled to an exclusivity period without having to prove clinical superiority.

Despite the developments in the Depomed case, the FDA has stated that they will adhere to the original interpretation of the Orphan Drug Act. The FDA has stated that “the sponsor of an orphan-designated drug that is the same as the previously approved drug… is required to demonstrate that its drug is clinically superior to the previously approved drug in order for its drug to be eligible for orphan-drug exclusivity upon approval.”
For further information

Why orphan drug coverage reimbursement decision-making needs patient and public involvement
An article published in Health Policy describes the importance of engaging the public and patients into decision-making for healthcare rationing exercises, priority setting, health technology assessment, and coverage decision-making, especially for orphan drugs. The article outlines the rise of public and patient involvement in health care and research, especially in the international context and the challenges and specificities associated with orphan drugs. The authors provide several examples of patient and public involvement in Canada and call for a legislative implementation to increase their participation.
Read the PubMed abstract


Orphanet News
Collaboration between Orphanet and the Swedish Information Centre for Rare Diseases

The Swedish Information Centre for Rare Diseases is responsible for producing and updating information provided in the rare disease (RD) database of the Swedish National Board of Health and Welfare. The latter is a government agency under the Ministry of Health and Social Affairs, with a very wide range of activities and many different duties within the fields of social services, health and medical services, environmental health, communicable disease prevention and epidemiology.

Currently, the RD database includes descriptions of over 300 diagnoses in Swedish, of which 170 have been translated into English. New articles are added continually, and they are revised on a regular basis. All the texts undergo a quality assurance process before being released, which includes reviewing by RD medical experts and patient representatives.

With the aim to help relaying this very useful disease information to patients and families, the texts are being linked on Orphanet. They can be found in the “detailed information” section at the bottom of the corresponding disease pages.
Access Orphanet
Access Swedish Information Centre for Rare Diseases


New Syndromes

Novel subtype of 3-methylglutaconic aciduria associated with cataract, renal cysts and nephrocalcinosis in two siblings
The authors investigated the genetic cause of mitochondrial disease in two siblings with a syndrome of congenital lamellar cataracts associated with nephrocalcinosis, medullary cysts and 3-methylglutaconic aciduria. The only variants which satisfied these criteria were found in the CLPB gene.
Consult the Pubmed abstract

J Inherit Metab Dis. ; [Epub ahead of print] ; January, 2015
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
In two articles, the authors reported on individuals from several families with lymphoproliferation and early-onset solid-organ autoimmunity associated with germline heterozygous mutations in STAT3. Patients exhibited a variety of clinical features, with most having lymphadenopathy, autoimmune cytopenias, multiorgan autoimmunity (lung, gastrointestinal, hepatic, and/or endocrine dysfunction), infections, and short stature.
Consult the Pubmed abstracts

Blood ; 125(4):591-9; 639-48 ; January, 2015
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
The authors sought to identify the genetic abnormalities in patients with idiopathic immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorders. A nonsense mutation was found in the LRBA gene.
Consult the Pubmed abstract

J Allergy Clin Immunol. ; 135(1):217-227 ; January, 2015
Polysyndactyly, coarctation of the aorta, and tongue hamartomas associated with a frame shift mutation and a likely pathogenic sequence variant in WDPCP
The authors reported on a young girl with similar findings to those reported in individuals with variant forms of orofaciodigital syndrome known as congenital heart defects, hamartomas of the tongue and polysyndactly, and orocardiodigital syndrome. Whole exome sequencing revealed that she is compound heterozygote for a frame shift mutation and a likely pathogenic sequence variant in WDPCP.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(2):421-7 ; February 2015
Familial thrombocytopenia and hematologic malignancy due to germline missense mutations in ETV6
The authors reported germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated kindreds, defining a new hereditary syndrome featuring thrombocytopenia with susceptibility to diverse hematologic neoplasms.
Consult the Pubmed abstract

Nat Genet. ; 47(2):180-5 ; February 2015
Syndromic intellectual disability, behaviour problems and distinct facial phenotype linked with homozygous missense mutation in MED25 in a consanguineous Brazilian family
The authors investigated a consanguineous Brazilian family in which seven adults presented syndromic intellectual disability, behaviour problems, and facial characteristics such as tall forehead, prognatism, prominent chin and very large and overhanging nose. The homozygous missense mutation in MED25 segregated with the disease.
Consult the Pubmed abstract

J Med Genet. ; 52(2):123-7 ; February 2015
Unique myoclonus-dystonia syndrome associated with CACNA1B mutation in a three-generation family
The authors used exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus dystonia-like syndrome with cardiac arrhythmias. They identified a mutation in the CACNA1B gene.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(4):987-93 ; February 2015

New Genes

Lateral meningocele syndrome caused by heterozygous truncating mutations of NOTCH3
Consult the Pubmed abstract
To read more about "Lateral meningocele syndrome"

Am J Med Genet A. ; 167(2):271-81 ; February 2015
Oliver-McFarlane and Laurence-Moon syndromes due to mutations in the PNPLA6 gene in six families
Consult the Pubmed abstract
To read more about "Laurence-Moon syndrome"
To read more about "Trichomegaly - retina pigmentary degeneration - dwarfism"

J Med Genet. ; 52(2):85-94 ; February 2015
Autosomal dominant Opitz G/BBB syndrome associated with a heterozygous missense mutation in SPECC1L in a three-generation family
Consult the Pubmed abstract
To read more about "Opitz G/BBB syndrome"

J Med Genet. ; 52(2):104-10 ; February 2015
Optic disc anomalies and macular atrophy linked to a homozygous SIX6 mutation in a consanguineous family
Consult the Pubmed abstract
Clin Genet. ; 87(2):192-5 ; February 2015
Bardet-Biedl syndrome associated with ALMS1 mutations
Consult the Pubmed abstract
To read more about "Bardet-Biedl syndrome"

Clin Genet. ; 87(2):161-6 ; February 2015
Lobar holoprosencephaly caused by homozygous truncating STIL mutation in an extended consanguineous Pakistani family
Consult the Pubmed abstract
To read more about "Lobar holoprosencephaly"

Hum Genet. ; 134(1):45-51 ; January, 2015
Congenital muscular dystrophy, Ullrich type, associated with HRAS mutation in a 5 year old girl
Consult the Pubmed abstract
To read more about "Congenital muscular dystrophy, Ullrich type"

Neuromuscul Disord. ; 24(11):993-8 ; November 2014
Atypical chronic myeloid leukemia due to recurrent somatic ETNK1 mutations
Consult the Pubmed abstract
To read more about "Atypical chronic myeloid leukemia"

Blood ; 125(3):499-503 ; January, 2015
Pulmonary arterial hypertension: polymorphisms in TRPC6 and AGTR1 could have a role in the development of this disease
Consult the Pubmed abstract
To read more about "Pulmonary arterial hypertension"

Orphanet J Rare Dis. ; 10(1):1 ; January, 2015
Six new epithelial ovarian cancer susceptibility loci: WNT4, SYNPO2, ABO, ATAD5, RSPO1 and GPX6
Consult the Pubmed abstract
To read more about "Malignant epithelial tumor of ovary"

Nat Genet. ; 47(2):164-71 ; February 2015

Research in Action

Clinical Research
Recurrent or progressive meningioma: pasireotide LAR does not significantly increase the proportion of patients with progression-free survival
Consult the Pubmed abstract
To read more about "Meningioma"

Neurology ; 84(3):280-6 ; January, 2015
Angiotensin-converting enzyme-inhibitor-induced angioedema: the time to complete resolution of edema was shorter with icatibant than with a glucocorticoid and an antihistamine
Consult the Pubmed abstract
To read more about "Renin-angiotensin-aldosterone system-blocker-induced angioedema"

N Engl J Med. ; 372(5):418-25 ; January, 2015
Hypoplastic left heart syndrome: intracoronary infusion of autologous cardiosphere-derived cells is feasible and safe in children
Consult the Pubmed abstract
To read more about "Hypoplastic left heart syndrome"

Circ Res. ; [Epub ahead of print] ; November 2014
Polycythemia vera: ruxolitinib was superior to standard therapy in patients who had an inadequate response or had unacceptable side effects
Consult the Pubmed abstract
To read more about "Polycythemia vera"

N Engl J Med. ; 372(5):426-35 ; January, 2015
Multiple myeloma: the combination of carfilzomib, thalidomide and dexamethasone is an effective induction and consolidation regimen for transplant-eligible patients
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Blood ; 125(3):449-56 ; January, 2015
Juvenile myelomonocytic leukemia: mutations in SETBP1 confer a poor prognosis
Consult the Pubmed abstract
To read more about "Juvenile myelomonocytic leukemia"

Blood ; 125(3):516-24 ; January, 2015
Menkes disease: clinical disease spectrum
Consult the Pubmed abstract
To read more about "Menkes disease"

Am J Med Genet A. ; 167(2):417-20 ; February 2015
Therapeutic Approaches

Huntington disease: depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in three model mice
Consult the Pubmed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 24(4):1092-105 ; February 2015
Huntington disease: introducing the active form of the mTORC1 regulator, Rheb, into model mouse brain improves disease phenotypes
Consult the Pubmed abstract
To read more about "Huntington disease"

Neuron ; 85(2):303-15 ; January, 2015
Spinocerebellar ataxia type 3: transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in transgenic mice
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 3"

Brain ; 138(Pt 2):320-35 ; February 2015
Graft versus host disease: specific inhibition of the nuclear factor of activated T cells resulted in an amelioration of the disease in mice
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Proc Natl Acad Sci U S A. ; 112(4):1125-30 ; January, 2015
Diagnostic Approaches

Lesch-Nyhan syndrome: new biomarkers for early diagnosis
Consult the Pubmed abstract
To read more about "Lesch-Nyhan syndrome"

Orphanet J Rare Dis. ; 10(1):7 ; January, 2015
McArdle disease: analysis of myophosphorylase expression in white blood cells might be a useful, less invasive, complementary test for diagnosing the disease
Consult the Pubmed abstract
To read more about "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"

Neuromuscul Disord. ; 24(12):1079-86 ; December 2014
Babesiosis should be included in the differential diagnosis of patients with a tick-exposure history in areas where this disease has previously been identified
Consult the Pubmed abstract
To read more about "Babesiosis"

Lancet Infect Dis. ; [Epub ahead of print] ; December 2014
Isolated cytochrome C oxidase deficiency: measurements of cytochrome c oxidase activity in lymphocytes and genetic analysis of COX6B1 should be included for the diagnosis
Consult the Pubmed abstract
To read more about "Isolated cytochrome C oxidase deficiency"

Eur J Hum Genet. ; 23(2):159-64 ; February 2015
Idiopathic inflammatory myopathy: immunohistochemical staining for both MHC-I and MHC-II should be included routinely in the diagnostic evaluation of muscle biopsies
Consult the Pubmed abstract
To read more about "Idiopathic inflammatory myopathy"

Neuromuscul Disord. ; 24(12):1025-35 ; December 2014

Patient Management and Therapy
Acute encephalitis: causes, management and predictors of outcome
Consult the Pubmed abstract
Neurology ; 84(4):359-66 ; January, 2015
Childhood cancer: review on immune-based therapies
Consult the Pubmed abstract
Nat Rev Clin Oncol. ; 11(12):693-703 ; December 2014
Multiple myeloma: review on current treatment landscape
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Nat Rev Clin Oncol. ; 12(1):42-54 ; January, 2015
Familial abdominal aortic aneurysm: review on diagnosis and treatment
Consult the Pubmed abstract
To read more about "Familial abdominal aortic aneurysm"

Orphanet J Rare Dis. ; 10(1):4 ; January, 2015
Cloacal exstrophy: a review
Consult the Pubmed abstract
To read more about "Cloacal exstrophy"

Eur J Pediatr Surg. ; 25(1):87-93 ; February 2015
PIK3CA-related overgrowth spectrum: review on diagnosis
Consult the Pubmed abstract
Am J Med Genet A. ; 167(2):287-95 ; February 2015
Prader-Willi syndrome: trends in diagnosis, prevalence and birth characteristics in Australia
Consult the Pubmed abstract
To read more about "Prader-Willi syndrome"

Am J Med Genet A. ; 167(2):371-8 ; February 2015
Sporadic inclusion body myositis: review on ongoing developments
Consult the Pubmed abstract
To read more about "Inclusion body myositis"

Curr Rheumatol Rep. ; 16(12):477 ; December 2014
Amyopathic dermatomyositis: review on definition, diagnosis and management
Consult the Pubmed abstract
To read more about "Dermatomyositis"

Curr Rheumatol Rep. ; 16(12):465 ; December 2014
Idiopathic inflammatory myopathy: review on diagnosis and management
Consult the Pubmed abstract
To read more about "Idiopathic inflammatory myopathy"

Curr Rheumatol Rep. ; 16(12):464 ; December 2014
Juvenile dermatomyositis: a review on calcinosis
Consult the Pubmed abstract
To read more about "Juvenile dermatomyositis"

Curr Rheumatol Rep. ; 16(12):467 ; December 2014
Drug-induced thrombotic microangiopathy: a review
Consult the Pubmed abstract
To read more about "Thrombotic microangiopathy"

Blood ; 125(4):616-8 ; January, 2015
Angelman syndrome in adulthood
Consult the Pubmed abstract
To read more about "Angelman syndrome"

Am J Med Genet A. ; 167(2):331-44 ; February 2015
Multiple system atrophy: a review
Consult the Pubmed abstract
To read more about "Multiple system atrophy"

N Engl J Med. ; 372(3):249-63 ; January, 2015
Autoinflammatory diseases: a review
Consult the Pubmed abstract
Klin Padiatr. ; 226(3):133-42 ; March 2014
Von Hippel-Lindau disease: a review
Consult the Pubmed abstract
To read more about "Von Hippel-Lindau disease"

Oncol Res Treat. ; 37(12):761-71 ; 2014
Medulloblastoma: a review
Consult the Pubmed abstract
To read more about "Medulloblastoma"

Nat Rev Clin Oncol. ; 11(12):714-22 ; December 2014
Special issue of Molecular Genetics and Metabolism on WORLD Symposium dedicated to lysosomal diseases
Consult the special issue
Molecular Genetics and Metabolism ; 114(2):S1-S130 ; February 2015
Three updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Three updated GeneReviews have been published for:
Glucose transporter type 1 deficiency syndrome
Hidrotic ectodermal dysplasia 2
Progressive myoclonus epilepsy, Lafora type


Orphan Drugs
Orphan drug legislation lacking: pharmas need more to develop orphan drugs
An article published in the European Health Economics has stated that pharmaceutical manufacturers are finding the incentives provided in the Orphan Drug legislation to be insufficient as funds to pay for the developed therapies are lacking. The authors conducted a literature review to determine the solutions to these problems encountered by pharmas and sets out a number of options for redesigning current orphan drug policies. The authors found that some of the strategies included “clarifying society’s views about the priority to be given to orphan drugs, revising the arrangements for pricing and reimbursement of orphan drugs, defining the priorities for research into rare diseases and developing ‘joined up’ policies to deal with these issues”.
Read the PubMed abstract

Regulatory News
Marketing authorisation for Pheburane granted in Canada
Health Canada has issued a Notice of Compliance (marketing authorisation) for Pheburane - a tasteless oral formulation of sodium phenylbutyrate - indicated as adjunctive therapy in the chronic management of urea cycle disorders (UCD), involving deficiencies of carbamylphosphate synthetase, ornithine transcarbamylase or argininosuccinate synthetase. Developed by Medunik Canada, a Canadian pharmaceutical company specialising in orphan drugs, this medication will provide Canadians living with a UCD access to an approved tasteless medication for the treatment of this metabolic disease. Pheburane was granted a marketing authorisation by the European Union in July 2013.
Read more about Pheburane

FDA expands approves Imbruvica for rare form of non-Hodgkin lymphoma
The U.S. Food and Drug Administration (FDA) expanded the approved use of Imbruvica (ibrutinib) for patients with Waldenström’s Macroglobulinemia (WM), a rare form of cancer that begins in the body’s immune system. The drug received a breakthrough therapy designation for this use. A type of non-Hodgkin lymphoma, WM usually gets worse slowly over time and causes abnormal blood cells, known as B lymphocytes (B cells), to grow within the bone marrow, lymph nodes, liver, and spleen. In WM, abnormal B cells also overproduce a protein known as immunoglobulin M or IgM (macroglobulin) that may lead to excess bleeding, problems with vision and with the nervous system. Imbruvica works by blocking the enzyme that allows the abnormal B cells in WM to grow and divide. The FDA granted Imbruvica for WM breakthrough therapy designation, priority review, and orphan product designation.
Read more

Political and Scientific News
NICE Recommends Soliris after evaluation of ultra-orphan drugs
The United Kingdom’s National Institute for Health and Care Excellence (NICE) has published the first guidance document to pass through its highly specialised technologies (HST) programme in order to improve its assessment of treatments for ultrarare diseases. Although NICE has declared Soliris, which treats atypical hemolytic uremic syndrome (aHUS), cost-effective, the price tag of the drug caused NICE to add caveats to its recommendation. The official forecast of the budget impact is confidential, but an illustrative estimate released by NICE put the cost over the next five years at £346 million, costing the NHS around £58m in the first year of recommendation, rising to £82m after five years. NICE has asked for further research into the dosing and duration of treatment with Soliris to see if the cost can be lowered.
Read more



NEURONERANET: 2015 “Neurodevelopmental Disorders”
This call for Proposals for "European Research Projects on Neurodevelopmental Disorders" is aimed to facilitate multinational, collaborative research projects that will address important questions relating to the neurodevelopmental nature of neurological and psychiatric disorders. The call will accept proposals ranging from understanding basic mechanisms of disease through proof of concept clinical studies in humans.
Deadline for pre-proposal submission: 9 March, 2015 14:00 CET

For further information

The EU Joint Programme – Neurodegenerative Disease Research (JPND)
This joint transnational co-funded call is launched in partnership with the European Commission under the ERA-NET Co-fund scheme with the aim to tackle this leading medical and societal challenge faced by our society. Three priority topics form the basis for the Call – Longitudinal Cohorts, Advanced Experimental Models and Risk/Protective Factors. These three topics have emerged through a consultative process between research opinion leaders and JPND member organisations, focussed on delivering the understanding, tools and capabilities to underpin the development of new preventive and therapeutic approaches for neurodegenerative diseases.

Funding: The total fund for this call is over 30 million euro (for all participating countries) with a 10 million euro European Commission “topping up” fund.
Deadline: The pre-proposal submission deadline is 23:59 (C.E.T) on the 10th of March, 2015.
For further information

DEBRA International : Call for research proposals, 2015
DEBRA International is now inviting expressions of interest for funding support of clinical research and clinical trials targeting therapy development and symptom relief for epidermolysis bullosa (EB). There is a two stage application process, with a submission deadline for stage 1 proposals (expressions of interest) on 1 April 2015. Proposals are invited which make a breakthrough in developing therapies that address the underlying causes or the life limiting consequences of EB (e.g. EB related squamous cell carcinoma), or in developing symptom relief treatments that address clinical consequences of EB that impact upon quality of life.
For further information

The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit. As appropriate, submitted studies should consider inclusion of the following: Collaboration among investigators from different institutions as well as translation of findings into the clinical setting.
Maximum Amount of Monies to be Awarded: Up to $100,000 USD (total)
Duration of Grant: 1 Year
LOI Deadline: April 2, 2015

For further information

The Ataxia of Charlevoix-Saguenay Foundation
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Application Deadline: May 22, 2015
For further information

ERare : Joint Transnational Call 2015
On the 15th of December 2014 ERare opened the seventh ERare joint call for funding multilateral research projects on rare diseases (JTC 2015) together with the European Commission (EC) under the ERANet cofund mechanism. The call is expected to be opened simultaneously by the parties in their respective countries. The following 17 countries (23 funding agencies) intend to participate in this call: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Greece, Hungary, Israel, Italy, Latvia, Poland,Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition. For more information, details of the topic, eligibility criteria and timeline go to www.erare.eu


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

Courses & Educational Initiatives

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

It is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification.
For further information

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

This training seminar, organised by FCRIN and Eudipharm aims at raising awareness among clinical research actors on the drug development specificities for rare diseases. This third edition will attempt to answer that very “hot” topic by providing clinical research professionals and project carriers with tools and solutions, thanks to the participation of clinical research experts and authorities.
For further information

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

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

3rd radiz Rare Diseases Summer School
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd 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. The summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
Visit the EURORDIS website for more information.

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
Advanced metabolic course: Controversies in management
Date: 11-13 March, 2015
Venue: Manchester, UK

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

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

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

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

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

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

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

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September


What's on Where?

EURORDIS policy event
Date: 25 February, 2015
Venue: Brussels, Belgium

The Rare Disease Day 2015 theme Living with a Rare Disease recognises the millions of families, friends and carers whose daily lives are impacted by rare diseases. The 2015 slogan day-by-day, hand-in-hand calls for solidarity as together patients, families, carers, patient organisations and healthcare professionals can participate in improving the lives of people living with a rare disease.
For further information

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

The conference will focus on Rare Diseases of the Human Immune System – Neutrophil Granulocytes and Biology of Mitochondria
For further information

The ACMG Annual Clinical Genetics Meeting
Date: 6–7 March, 2015
Venue: Utah, United States

The ACMG Meeting is the preeminent annual gathering of the leaders in the field of genetic and genomics and will provide genetics professionals with the opportunity to learn how genetics and clinical practice. The ACMG Annual Meeting Program Committee has developed present the latest developments and research in clinical genetics and genomics.
For further information

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

The theme of this conference is “From better start to better living” and will provide an opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise.
For further information

Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
Date: 16-17 April, 2015
Venue: Seville, Spain

Genetic Insider The connection platform among European and American clinical professionals and industry, to promote the necessary partnership networks for rare diseases.
For further information

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

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

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

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

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

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

The European Human Genetics Conference 2015
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

22nd International Meeting of the Pediatric Colorectal Club 2015
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

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

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

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

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

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Salzburg, Austria

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

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

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

4th International RASopathies Symposium
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
Date: 23-26 July, 2015
Venue: Missoouri, US

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

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG)
Date: 28-30 August, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

Tyrosinemia 2015
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

2nd International Primary Immunodeficiencies Congress (IPIC)
Date: 5-6 November, 2015
Venue: Budapest, Hungary

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC, attended by 400 participants. The congress will consist of a two-day programme and is open to all stakeholders with an interest in clinical management of primary immunodeficiencies (PIDs).
For further information

13th International Congress of Human Genetics (ICHG) 2016
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities.
Registrations open in 2015.
For further information


Commercial events

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

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

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

World Orphan Drug Congress is the premier commercial event for the global rare disease industry. Differentiate yourself from the competition by discovering the latest strategies for sustainability, pricing and reimbursement, commercialization and global market access.
For further information

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

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

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts , US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

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

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information


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

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