27 August 2014 print
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Ireland and Scotland adopt national rare disease plans and Spain updates its national plan

On 3rd July, Health Minister Dr James Reilly launched Ireland’s National Rare Disease Plan for the next four years. The plan recommends creating a Clinical Care Programme and a National Office for Rare Diseases. The plan objective is also to offer residential care for children with rare diseases, provide means to access orphan medicinal products, increase rare disease awareness, develop a rare disease research network, support patient organisations and establish rare disease monitoring and reporting mechanisms to improve national and EU-level reporting.

As rare disease patients in Ireland often have to travel abroad to seek medical attention, the plan aims to reduce diagnostic delays caused by the lack of national expertise on rare diseases. The Clinical Care Programme will address the needs for specialist services. It will also serve to develop joined-up care to accompany rare disease patients throughout their therapeutic journey. The National Rare Disease Office will identify rare disease Centres of Expertise, offer assistance to patients and families through a helpline and conduct national rare disease surveillance. The Centres of Expertise will draw on multi-disciplinary competences to dispense comprehensive and expert care to rare disease patients. They will also offer education and training to healthcare professionals from all specialties in order for them to provide adapted care to rare disease patients and their families.

Consult the National Rare Disease Plan for Ireland 2014-2018

Last June, the Scottish government also presented its Implementation Plan for Rare Diseases in Scotland. Scotland contributed towards developing and launching the UK Rare Disease Strategy with England, Wales and Northern Ireland in October 2013. In accordance with this strategy, Scotland has elaborated an Implementation Plan for Rare Diseases addressing needs within its health service structure and in response to patient and clinician expectations. Providing services to rare disease patients is challenging in Scotland due to a significant rural and remote population.

The plan aims to accelerate diagnosis, facilitate access to health services and improve research on rare diseases and patients in response to the EU Council 2009 recommendation on rare disease action and the Scottish government’s 2020 Vision to provide sustainable and quality healthcare services across Scotland. The Implementation Plan for Rare Diseases proposes a number of services to assist and empower rare disease patients, from prevention to diagnosis and disease management.

Consult the Implementation Plan for Rare Diseases in Scotland

Spain has updated its national rare disease plan of 2009 proposing seven lines of action, including prevention and early detection of rare diseases, healthcare and integrated health and social care, promotion of research, training and information for professionals and rare disease patients and families.

Consult the rare disease national plan update for Spain (in Spanish only)


EU Policy News

ERRATUM: article on “First Conference on European Reference Networks sheds light on the future of ERNs” published 17 July 2014
Please note that the last two paragraphs of the article published on 17 July 2014, First Conference on European Reference Networks sheds light on the future of ERNs, may have been misleading regarding European Reference Networks (ERNs) initiatives. The situation should be understood as follows:

To date, two network pilot projects under the Cross-border Directive framework (Article 12 - European reference networks) began their activity in the first quarter of 2014. Both were financed by the 2013 Public health programme work plan. The two pilot projects were presented during the conference: the European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment ExPO-r-NeT and the European network of reference centres in refractory epilepsy and epilepsy surgery E-PILEPSY.

The new ERNs are intended to network centres of expertise. Member State health care authorities will be required to endorse and approve the selection of networks. The Implementing Decision on ERN states that “Networks should be established and healthcare providers approved as Members of the Networks on the basis of an open and transparent procedure. The procedure should include (1) the call for interest; (2) Member States’ endorsement of applications of their healthcare providers; (3) the submission of applications to the Commission” and that “In order to increase the coverage of the Networks, individual healthcare providers wishing to join a Network should be allowed to do so at any time. Their applications should be assessed according to the same procedure as that used to assess applications for the initial Network, including the endorsement of applications by the Member State in question”. “The membership application shall be accompanied by a written statement from the healthcare provider’s Member State of establishment certifying that its participation in the proposal to establish a Network is in accordance with the Member State’s national legislation. Concerning their scope, ERNs will strive to address rare or low prevalence and complex diseases and conditions requiring highly specialised care.

Recommendations on improving haemophilia patient management in Italy
An article published in Blood Transfusion describes recommendations on organising healthcare management of patients in Italy with inherited bleeding disorders (IBDs), including haemophilia A and B, and von Willebrand diseases (vWD). Coordinated by the Italian National Blood Centre (NBC), experts propose clinical pathways for haemophilia patients and best practice guidelines in efforts to reduce disease burden and prevent complications. As treatment for IBDs improves, life expectancy has increased significantly and patients are developing age-related comorbidities seen in the general population. Haemophilia Centres (HCs) must therefore adapt to the changing needs of these patients and organise themselves accordingly. In Italy, where standards of care vary widely from one region to another, Calizzani et al. highlight the need for regions to increase networking among HCs in order to offer multidisciplinary and integrated healthcare services.

Experts propose adopting several policies to improve patient management: regions should organise healthcare provision through IBD accredited HCs, offering a range of specialised services within short time delays; regions must harmonise protocols within networks to improve emergency treatment; they are encouraged to increase patient and practitioner training in order to improve home treatment and ensure expertise in patient management; patient registries should be maintained, expanded and interconnected in order to improve research and disease surveillance; regions should consider centralising plasma-derived and recombinant product purchases in order to benefit from qualitative and quantitative competition; and finally, monitoring and evaluation activities are needed to measure HC and regional network performance.

Read the open access article

Haemophilia centre accreditation in Italy could serve as a model for other European countries and other rare diseases
In a second article published in Blood Transfusion, Calizzani et al. describe an accreditation model for the network of fifty haemophilia centres belonging to the Italian Association of Haemophilia Centres (AICE). While the AICE’s professional accreditation programme has promoted good clinical practice in Italian haemophilia centres, the authors report that patient care is still heterogeneous across Italian regions. The Italian Federation of Haemophilia Societies (FedEmo) therefore proposed an institutional accreditation model to improve and harmonise standards of care in HCs throughout Italy. A final Agreement between the government and regions was approved in March 2013 and expected to be adopted legally within the following six months.

Two levels of HCs were originally proposed: those providing basic care and those supplying specialised comprehensive care. In the end however, regional authorities opted for a single HC organisation to simplify the accreditation process. In efforts to harmonise quality standards across regions, all haemophilia facilities are eligible to apply for Italian HC accreditation. The authors believe the Italian accreditation programme could serve as a model to establish centres of reference for other rare diseases.

Read the open access article

European Guidelines for the Certification of Haemophilia Centres
In a third article published in Blood Transfusion, authors Giangrande et al. describe recommended standards of care in HCs across Europe. Following several consultations, the European Guidelines for the Certification of Haemophilia Centres were launched in July 2013. The Guidelines outline standards of treatment for patients with IBDs, based on two types of HCs inspired by the Italian’s original proposal, mentioned in the previous article. Local routine care should be delivered in European Haemophilia Treatment Centres (EHTCs), whilst specialised multi-disciplinary care should be provided in European Haemophilia Comprehensive Care Centres (EHCCCs). Essentially, both types of centres must provide expert medical and 24-hour emergency treatment, laboratory and advisory services.

The Guidelines recommend establishing procedures for EHTC and EHCCC collaboration to ensure multi-disciplinary and comprehensive patient care across countries and throughout Europe. As increasing numbers of HCs apply for and are granted European certification, patient organisations and policy makers can hope for a reduction in health inequalities through standardised quality of care. Once again, the authors believe the success of an integrated European network for haemophilia patient care could serve as a model for other rare diseases.

Read the open access article


National & International Policy Developments

National strategies to improve paediatric cancer treatment in low- and middle-income countries
Around 85% of cancer diagnosed children belong to low- and middle-income countries (LMICs). In an article published in PLOS, Gupta et al. highlight the need to build national childhood cancer strategies (NCCS) in developing and emerging countries. Due to the often genetic nature of paediatric cancers, the authors recommend accurate diagnosis and adequate treatment to curb the rise in cancer mortality in LMICs. They suggest that the availability and cost-effectiveness of treatments improve chances of survival in resource-limited regions. Children in LMICs do not, however, systematically have access to treatment due to the lack of national paediatric cancer programmes, despite the existence of centres of excellence.

Gupta et al. recommend that NCCS be developed and based on criteria including treatment coverage, cancer centre accreditation, case reporting and registration, standards of care development and establishment of national childhood cancer governing bodies. The authors warn that financial coverage and incentives must reflect and be reflected by improved health outcomes. They suggest that reporting and registration of paediatric cancer patients contribute to improve resource allocations. National standards of care help improve health outcomes by avoiding over or under treatment. Finally, the authors stress the necessity for a national governing body to implement strategies, accredit centres, develop training, standards of care and policies, and ensure that healthcare supplies meet demand.

The authors identify a number of challenges, however, to implement NCCS. While NCCS appear to contribute towards improving childhood cancer treatment in LMICs, nations must evaluate their policies and assess the impact of their strategies on health outcomes. The authors also suggest that implementing costs be measured in order to optimise resources and attract additional public and private resources. Further recommendations include local advocacy to establish health policy priorities based on national and regional specificities. Despite disease complexity, Gupta et al. believe that national strategies and policy are essential to improve paediatric cancer treatment in LMICs.

Read the open access article

Other International News
Patient-initiated guidance on clinical development of treatment for Duchenne Muscular Dystrophy

Last June, the Parent Project Muscular Dystrophy (PPMD) community submitted to the FDA the first patient-initiated guidance on clinical research and therapeutic development for Duchenne Muscular Dystrophy (DMD). The guidance is a collaborative effort of over eighty experts and Duchenne community representatives, including parents, patients, academia, health professionals, industry and regulators. The purpose of the guidance is to assist researchers and industry in accelerating the development of medicinal products to treat DMD. Supported by peer-reviewed research, the guidance addresses six points to consider in therapeutic development.

The guidance emphasises the importance of treatment preference and risk-benefit assessment from a patient representative point of view for regulatory evaluation of potential therapies, as illustrated in an article published in Clinical Therapeutics last May. The guidance also highlights the need for sponsors to develop clinical programmes based on patient and caregiver therapeutic preferences, as parents and patients are prepared to accept a certain level of risk for minimal benefit to slow disease progression. Five further criteria outlined in the guidance include diagnosis, natural history—based on improved disease understanding—, clinical trial designs, outcome measures and considerations, and biomarkers to identify biological activity and support clinical trials.

The PPMD intends the guidance to serve as a tool for discussion among stakeholders. Where the EMA developed guidelines in 2013 on clinical investigation to treat DMD, the PPMD hopes the FDA will also adopt and implement guidelines for DMD, based on their patient-initiated guidance.

Read the patient-initiated “Guidance for Industry” for DMD submitted to FDA

NIH partners with American medical universities to accelerate diagnosis of rare diseases
The US government is investing US$ 43 million into the National Institutes of Health Undiagnosed Disease Network (NIH UDN) fund to address diagnosis of rare and ultra-rare diseases over the next four years. The National Institutes of Health (NIH) has partnered with six US medical institutions to tackle these undiagnosed cases. Each medical centre will receive a US$ 7.2 million four-year grant. Harvard Medical Centre will coordinate the network and the following medical institutions will participate in identifying, researching and treating rare diseases: Baylor College of Medicine; Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital; Duke University; Stanford University; University of California; and Vanderbilt University Medical Centre.

The NIH UDN will draw on genomic, genetic and environmental research from partner institutions to gather data on undiagnosed rare diseases. With the benefit of new tools and methods of testing and analysis, the UDN has so far linked some 4,000 diseases to one of around 23,000 genes. Launched in 2008, a pilot programme enrolled around 600 undiagnosed patients in clinical protocols, out of over 3,000 applications. Multidisciplinary research teams have diagnosed 100 of these patients, identified fifteen new genes and discovered two unknown diseases. The NIH will continue to assess some 150 patients a year through week-long patient examination and testing protocols. By 2017, each partner institute should evaluate an additional fifty patients a year, regardless of whether or not they are medically insured.

Read the NIH news release

A new research organisation dedicated to Down syndrome: Trisomy 21 Research Society (T21RS)
Registered under Dutch law on the 17th of April 2014 and with offices in The Netherlands and in France, Trisomy 21 Research Society (T21RS) is the first non-profit international research organisation dedicated to Down syndrome. Through interactive research, publications and conferences, T21RS aims to foster exchange between scientific communities, patient associations and health industries working on Down syndrome. T21RS seeks to advance basic and translational research in order to improve treatments for Down syndrome and aims to provide training programmes and grants to scientists interested in studying Down syndrome. T21RS will also communicate on Down syndrome research to improve public knowledge and policy decisions.

Access T21RS website here

Guidance Documents and Recommendations
Congenital muscular dystrophy: review of diagnostic approaches made by the International Committee on the Standard of Care for Congenital Muscular Dystrophies
Consult the Pubmed abstract
To read more about "Congenital muscular dystrophy"

Neuromuscul Disord. ; 24(4):289-311 ; April 2014
Ocular myastheny: European Federation of Neurological Societies and European Neurological Society guidelines for the treatment
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

Eur J Neurol. ; 21(5):687-93 ; May 2014
Hereditary non-polyposis colon cancer: guidelines on genetic evaluation and management from the US Multi-Society Task Force on Colorectal Cancer
Consult the Pubmed abstract
To read more about "Hereditary nonpolyposis colon cancer"

Gastroenterology ; 147(2):502-26 ; August 2014
Idiopathic pulmonary fibrosis: French practical guidelines on diagnosis and management
Consult the Pubmed abstract
To read more about "Idiopathic pulmonary fibrosis"

Eur Respir Rev. ; 23(132):193-214 ; June 2014
Maple syrup urine disease: nutrition management guideline
Consult the Pubmed abstract
To read more about "Maple syrup urine disease"

Mol Genet Metab. ; 112(3):210-7 ; July 2014
Bioinformatics, Registries and Data Management

The need to build minimum and common data sets to research, diagnose and treat rare diseases more efficiently
In an article published in the Journal of the American Medical Informatics Association, Choquet et al. propose a methodology to establish standards for rare disease data collection. Based on a systematic review of the literature and the identification of data elements (DEs), the authors aim to establish homogeneous DEs common to all rare diseases, collect electronic health records at the bedside and promote the development of standardised European rare disease registries. The authors highlight the need for appropriate methodology and stakeholder consensus to establish common data elements (CDEs) in order to render data collected in clinical settings reusable for patient care, epidemiology and research.

Since European countries have begun launching their national plans to advance rare disease research and treatment, the necessity and the difficulty to collect consistent and harmonised data sets on rare disorders has become all the more apparent. France’s first national plan on rare diseases (2005-2009) focused on groups of diseases and aimed to develop a network of rare disease centres and research units. France’s second national plan on rare diseases (2011-2014) funded information technology tools for these disease centres to develop a French minimum data set for rare diseases (F-MDS-RD). The F-MDS-RD builds on 42 CDEs and 16 national DEs.

Presently, countries can use one of three coding systems for rare disease diagnosis, namely Orphanet, OMIM or SNOMED Clinical Terms, depending on the level of detail required. In France, investigators use Orphanet codes as the country has not acquired the license to use SNOMED-CT coding. In the US, the Office of Rare Diseases Research (ORDR) national CDEs for rare diseases help collect homogeneous patient data into the Global Rare Diseases Patient Registry and Data Repository (GRDR). In the absence of a comprehensive international rare disease classification system, however, initiatives such as IRDiRC are hindered by incomplete data. In June 2013, the former EUCERD and EPIRARE recommended national rare disease data collection based on CDEs in order to harmonise, share and complement data among different databases, including Orphanet and the GRDR.

Consult the PubMed abstract

Internet tools as effective methods to recruit rare disease patients into registries
The internet offers the opportunity to reach dispersed rare disease patients and communities in order to gather larger numbers for research. In an article published in the American Journal of Medical Genetics, Johnson et al. analyse methods of recruiting patients with rare diseases into online registries. During 2012, the authors recruited participants in a Neurofibromatosis type 1 (NF1) patient registry initiative (NPRI) to conduct clinical and epidemiological research. Using various internet and clinical recruiting approaches, Johnson et al. assessed the impact of online recruitment methods on constituting rare disease registries.

Methods of recruitment included paid advertising on Google and Facebook—targeting individuals based on keyword searches—, advocacy group postings, institutional websites, letters and pamphlets for distribution to patients in the US and Australia. During the one-year recruiting period, 76% of the 880 participants completed the NPRI questionnaire. Up to 70% of individuals discovered the initiative through Google and Facebook targeted advertising. On the other hand, fewer than 10% of participants heard of the initiative through healthcare providers, institutional websites or advocacy groups.

The authors suggest, therefore, that advertising through social media websites is an effective tool to recruit larger numbers of rare disease patients from far reaching geographic areas into registries. While online advertising offers great potential, the authors nevertheless warn about the quality of recruited samples. They discovered their patient samples to be over represented by female participants, despite NF1 affecting male and female populations equally. The authors also draw attention to the occurrence of incomplete, duplicate or false registrations due to the lack of capacity to analyse internet user profiles.

Consult the PubMed abstract

The long road to constituting the Italian national rare disease registry
Based on EU recommendations, European countries are increasingly adopting measures to collect relevant data on rare diseases. In an article published in Blood Transfusion, Taruscio et al. describe the main features and achievements of the Italian national rare disease registry. As instruments of rare disease surveillance, registries are essential to conduct epidemiological and clinical studies and, ultimately, contribute to improve patient care. The Italian national rare disease registry, the Registro Nazionale Malattie Rare (RNMR), was established in 2001 and achieved national coverage by 2011 thanks to cooperation between the government and regions.

A ministerial decree listed 314 rare diseases on which the national registry should collect common data sets and that they should monitor. Regional authorities established regional registries to transmit data, collated by designated centres, to the RNMR. RNMR statisticians and computer technicians proposed training courses to regional registry operators in order to standardise data collection methodology across registries. Regional registry staff carried out regular quality controls to validate data and check for duplicates and errors. An algorithm was used to secure the transfer of data from regional registries to the national registry.

The registry collected altogether 110,841 valid records between 2001 and 2012. A number of features still need to be addressed, such as the date of disease onset and missing data associated with certain regional registries. Presently, the registry remains therefore a surveillance tool, with the longer term aim to support policy decisions and healthcare planning. The authors maintain that the Italian ministry of health’s proposed national rare disease plan confirms the utility of the RNMR, despite its slow implementation. They suggest that continued efforts to collaborate with national and international statistics services, European and international initiatives, such as EPIRARE, IRDiRC and RD-Connect, will contribute to improve the quality of the RNMR and regional registry data.

Read the open access article

Screening and Testing

Next generation sequencing is more rapid and cost effective to diagnose hereditary Alport syndrome
Researchers at Necker Hospital (Paris, France) demonstrate, in an article published in the Journal of the American Society of Nephropathy, how next generation sequencing (NGS) can facilitate diagnosis of patients with Alport syndrome (AS). AS is a nephropathy caused by defective type IV collagen, resulting from either a COL4A5 mutation, causing the X-linked disease form, or COL4A3 and COL4A4 mutations, causing autosomal AS. Most forms of AS are X-linked (up to 80-85%), hence affecting males more severely than females. The authors highlight the need to accurately diagnose and understand inheritance modes in order to best address reproductive choices, and provide families with appropriate genetic counselling and early treatment.

Molecular testing is effective to determine AS inheritance, however, it is an expensive and lengthy process. Morinière et al. recommend using high-throughput NGS technologies that allow simultaneous production of millions of DNA sequences. Using Life Technologies’ Ion PGM system, the authors were able to sequence the three type IV collagen genes simultaneously, saving time and expense. The authors also applied a bar-coding strategy, allowing them to sequence genes from several patients at a time, further sparing costs and reducing time. Morinière et al.’s study demonstrates that NGS improves AS diagnosis and reveals that autosomal AS is more frequent than previously suggested.

Consult the PubMed abstract

Advances in genetic screening tools throw light on genetic causes of epilepsy
Improvement in sequencing technologies is contributing towards a better understanding of the genetic basis of epilepsy. In a Nature Review, Thomas and Berkovic investigate the growing evidence of the genetic nature of most epilepsies and the promises of genome sequencing to better diagnose and treat epilepsies. The authors suggest that many epilepsies, previously thought to be acquired as a result of trauma, stroke or infection, increasingly display genetic causes. A number of genetic tests are now available and provide clinicians with additional assistance to improve patient diagnosis.

As screening technologies are becoming more ubiquitous in clinical settings, the authors warn, however, against interpreting all spontaneous mutations as likely causes of epilepsy. The authors highlight the need to establish clinical databases describing genotype-phenotype associations in order to better interpret findings from genetic tests. The use of massively parallel sequencing, such as whole genome sequencing, enables the detection of previously unknown genes associated with epilepsy. Although such methods offer diagnostic potential, the authors are aware of the need to better understand these techniques and interpret results.

While genetic screening methods are still to translate into therapeutic answers, these technologies may already offer clinicians the tools for disease management and genetic counselling. The authors recommend that clinicians understand the inheritance pattern of different forms of epilepsy in order to best advise families on disease management and potentially affected other family members. They also suggest the use of pharmacogenomics—the role of genetics in drug response— to improve patient management by assessing individual reactions to anti-epileptic drugs.

Read the open access article


New Syndromes

Novel form of myopathy linked to a homozygous mutation in TOR1AIP1 in a consanguineous family
The authors identified a novel myopathic phenotype in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, rigid spine and contractures of the proximal and distal interphalangeal hand joints. Cardiomyopathy and respiratory involvement were also noted. DNA sequencing showed a homozygous mutation in TOR1AIP1.
Consult the Pubmed abstract

Neuromuscul Disord. ; 24(7):624-33 ; July 2014
Novel neurodegenerative phenotype associated to a homozygous PCNA missense mutation in a family
The authors described a syndrome in which the cardinal clinical features include short stature, hearing loss, premature aging, telangiectasia, neurodegeneration, and photosensitivity, resulting from a homozygous missense PCNA mutation. This neurodegenerative phenotype displayed clinical and molecular features common to other DNA repair disorders.
Consult the Pubmed abstract

J Clin Invest. ; 124(7):3137-46 ; July 2014
Tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly due to a homozygous mutation in FGFR3 in two brothers
The authors reported tall stature, and severe skeletal abnormalities leading to inability to walk with camptodactyly, arachnodactyly, and scoliosis in two brothers, born to first cousin parents. Whole exome sequencing revealed a homozygous novel missense mutation in the FGFR3 gene.
Consult the Pubmed abstract

Hum Mutat. ; 35(8):959-63 ; August 2014
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement in a large family
The authors reported a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and myopathy associated with a missense mutation in the CHCHD10 gene.
Consult the Pubmed abstract

Brain ; 137(Pt 8):2329-45 ; August 2014
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease associated with a missense mutation in PRPS1 in two male siblings
The authors described a novel phenotype in two male siblings characterized by high prenatal maternal α-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing identified a missense mutation in PRPS1 gene.
Consult the Pubmed abstract

Eur J Hum Genet. ; [Epub ahead of print] ; June 2014
Congenital myopathy with fatigable weakness responding to pyridostigimine linked to mutations in RYR1 in two siblings
The authors reported the clinical phenotype of two siblings who presented in infancy with hypotonia and striking fatigable ptosis responding to pyridostigimine. Sequencing of the RYR1 gene revealed mutations in both siblings.
Consult the Pubmed abstract

Neuromuscul Disord. ; 24(8):707-12 ; August 2014
A novel overgrowth condition including macrocephaly, obesity, speech delay and advanced carpal ossification is due to heterozygous mutations in SETD2 in two patients
The authors identified two heterozygous mutations in SETD2 gene in two patients presenting postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification.
Consult the Pubmed abstract

J Med Genet. ; 51(8):512-7 ; August 2014

New Genes

Autosomal recessive epileptic encephalopathy with seizure onset in the first day of life is caused by heterozygous mutations in SLC13A5 in two families
Consult the Pubmed abstract
To read more about "Early infantile epileptic encephalopathy"

Am J Hum Genet. ; 95(1):113-20 ; July 2014
Autosomal recessive cone rod dystrophy due to mutations in POC1B
Consult the Pubmed abstract
To read more about "Cone rod dystrophy"

Am J Hum Genet. ; 95(2):131-142 ; August 2014
Ectopic progenitors and neuronal heterotopia in mouse and human are linked to mutations in EML1
Consult the Pubmed abstract
To read more about "Subcortical band heterotopia"

Nat Neurosci. ; 17(7):923-33 ; July 2014
Limb-girdle muscular dystrophy type 1G caused by mutations in HNRPDL in two families
Consult the Pubmed abstract
To read more about "Autosomal dominant limb-girdle muscular dystrophy type 1G"

Hum Mol Genet. ; 23(15):4103-10 ; August 2014
Recessive non-syndromic, prelingual, profound hearing loss due to a splice site mutation in FAM65B in a consanguineous Turkish kindred
Consult the Pubmed abstract
To read more about "Autosomal recessive non-syndromic sensorineural deafness type DFNB"

Proc Natl Acad Sci U S A. ; 111(27):9864-8 ; July 2014
Blackfan-Diamond anemia caused by RPS29 mutations in two families
Consult the Pubmed abstract
To read more about "Blackfan-Diamond anemia"

Blood ; 124(1):24-32 ; July 2014
Blackfan-Diamond anemia with mandibulofacial dystostosis associated with TSR2 and RPS28 mutations
Consult the Pubmed abstract
Am J Med Genet A. ; [Epub ahead of print] ; June 2014
46, XY partial gonadal dysgenesis linked to increased gene copy numbers of VAMP7
Consult the Pubmed abstract
To read more about "46,XY partial gonadal dysgenesis"

Nat Med. ; 20(7):715-24 ; July 2014
Behr syndrome is due to homozygous nonsense mutation in C12orf65 in four patients from three unrelated families
Consult the abstract
To read more about "Behr syndrome"

Journal of Neuromuscular Diseases ; 1(1):55-63 ; April 2014
Impaired neuromuscular transmission is associated with mutations of the SLC25A1 gene
Consult the abstract
To read more about "Congenital myasthenic syndrome"

Journal of Neuromuscular Diseases ; 1(1):75-90 ; May 2014
Intracranial germ cell tumours linked to JMJD1C germline mutations and to KIT/RAS signaling pathway somatic mutations
Consult the Pubmed abstract
To read more about "Germinoma of the central nervous system"

Nature ; 511(7508):241-5 ; July 2014
X-linked recessive intellectual disability with features of 3C syndrome associated with missense variant in CCDC22 in an Austrian family with two affected male children
Consult the Pubmed abstract
To read more about "3C syndrome"

Eur J Hum Genet. ; [Epub ahead of print] ; June 2014
Microphthalmia and anterior segment dysgenesis caused by novel mutations in PXDN
Consult the Pubmed abstract
Eur J Hum Genet. ; [Epub ahead of print] ; June 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
Consult the Pubmed abstract
To read more about "Noonan syndrome"
To read more about "Juvenile myelomonocytic leukemia"

Hum Mol Genet. ; 23(16):4315-27 ; August 2014
Noonan-like syndrome with a variable phenotype ranging from severe to very mild is associated with heterozygous germline mutations in A2ML1
Consult the Pubmed abstract
To read more about "Noonan syndrome"

Eur J Hum Genet. ; [Epub ahead of print] ; June 2014
Mitochondrial encephalomyopathies due to VARS2 and TARS2 mutations
Consult the Pubmed abstract
Hum Mutat. ; 35(8):983-9 ; August 2014
Genetic variants of the KCNQ1 gene confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission
Consult the Pubmed abstract
To read more about "Beckwith-Wiedemann syndrome"

J Med Genet. ; 51(8):502-11 ; August 2014
Leri pleonosteosis results from microduplication at 8q22.1 encompassing GDF6 and SDC2 in two families
Consult the Pubmed abstract
To read more about "Leri pleonosteosis"

Ann Rheum Dis. ; [Epub ahead of print] ; January 2014

Research in Action

Clinical Research
Infantile neuronal ceroid lipofuscinosis: combination therapy with cysteamine bitartrate and N-acetylcysteine is beneficial for the patients
Consult the Pubmed abstract
To read more about "Late infantile neuronal ceroid lipofuscinosis"
To read more about "CLN1 disease"

Lancet Neurol. ; 13(8):777-87 ; August 2014
Sickle cell anemia: non-myeloablative allogeneic hematopoietic stem cell transplantation allows for complete replacement with circulating donor red blood cells
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

JAMA ; 312(1):48-56 ; July 2014
Hepatocellular carcinoma: everolimus did not improve overall survival in patients whose disease progressed during or after receiving sorafenib
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Hepatocellular carcinoma"

JAMA ; 312(1):57-67 ; July 2014
B-cell chronic lymphocytic leukemia: ibrutinib significantly improves progression-free survival and response rate compared to ofatumumab
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

N Engl J Med. ; 371(3):213-23 ; July 2014
Metastatic enteropancreatic neuroendocrine tumors: lanreotide significantly prolonged progression-free survival
Consult the Pubmed abstract
Consult this study on Orphanet
Consult this study on Orphanet

To read more about "Gastroenteropancreatic endocrine tumor"
To read more about "Endocrine tumor"

N Engl J Med. ; 371(3):224-33 ; July 2014
Pediatric autoimmune and inflammatory central nervous system diseases: rituximab should be restricted to disorders with significant mortality due to its infectious risk
Consult the Pubmed abstract
To read more about "Limbic encephalitis with NMDA receptor antibodies"
To read more about "Opsoclonus-myoclonus syndrome"
To read more about "Neuromyelitis optica"
To read more about "Pediatric systemic lupus erythematosus"
To read more about "Limbic encephalitis with LGI1 antibodies"
To read more about "Rasmussen subacute encephalitis"

Neurology ; 83(2):142-50 ; July 2014
Acquired thrombotic thrombocytopenic purpura: preemptive rituximab infusions after remissions efficiently prevent relapses
Consult the Pubmed abstract
To read more about "Acquired thrombotic thrombocytopenic purpura"

Blood ; 124(2):204-10 ; July 2014
Phenylketonuria: rAvPAL-PEG is safe and reduces blood phenylalaline concentrations even though it develops antibodies against polyethylene glycol
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Lancet ; 384(9937):37-44 ; July 2014
Hutchinson-Gilford progeria syndrome: increased survival with protein farnesylation inhibitors
Consult the Pubmed abstract
To read more about "Hutchinson-Gilford progeria syndrome"

Circulation ; 130(1):27-34 ; July 2014
Shared medical appointments improve quality of life in neuromuscular patients
Consult the Pubmed abstract
Neurology ; 83(3):240-6 ; July 2014
Thrombotic thrombocytopenic purpura: active monitoring and management during pregnancy results in positive pregnancy outcomes
Consult the Pubmed abstract
To read more about "Thrombotic thrombocytopenic purpura"
To read more about "Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency"
To read more about "Acquired thrombotic thrombocytopenic purpura"

Blood ; 124(2):211-9 ; July 2014
Malaria: the early concentration of once-infected erythrocytes is a solid candidate marker to predict post-artesunate delayed hemolysis
Consult the Pubmed abstract
To read more about "Malaria"

Blood ; 124(2):167-75 ; July 2014
Somatic NLRP3 mosaicism underlying Muckle-Wells syndrome
Consult the Pubmed abstract
To read more about "Muckle-Wells syndrome"

Ann Rheum Dis. ; [Epub ahead of print] ; December 2013
Ornithine transcarbamylase deficiency: clues for early diagnosis and timely treatment
Consult the Pubmed abstract
To read more about "Ornithine transcarbamylase deficiency"

Orphanet J Rare Dis. ; 9(1):105 ; July 2014
Stem Cells

Amyotrophic lateral sclerosis: focal transplantation of human iPSC-derived glial-rich neural progenitors improves lifespan of mice
Consult the abstract
To read more about "Amyotrophic lateral sclerosis"

Stem Cell Reports ; 3(2):242-249 ; August 2014
Gene Therapy
Spontaneous autoimmune peripheral polyneuropathy: vasoactive intestinal polypeptide expressing dendritic cells protects against the disease
Consult the Pubmed abstract
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Mol Ther. ; 22(7):1353-63 ; July 2014
Leber congenital amaurosis: CEP290 gene transfer rescues the cellular phenotype
Consult the Pubmed abstract
To read more about "Leber congenital amaurosis"

Gene Ther. ; 21(7):662-72 ; July 2014
Therapeutic Approaches

Rett syndrome: functional recovery and phenotype amelioration with recombinant human IGF1 and β2-adrenergic receptor agonist treatments in a mouse model
Consult the Pubmed abstracts
To read more about "Rett syndrome"

Proc Natl Acad Sci U S A. ; 111(27):9941-6 ; July 2014
Proc Natl Acad Sci U S A. ; 111(27):9947-52 ; July 2014
Duchenne muscular dystrophy: effective dystrophin restoration by a novel muscle-homing peptide-morpholino conjugate in mdx mice
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther. ; 22(7):1333-41 ; July 2014
Severe spinal muscular atrophy: human growth hormone increases survival motor neuron expression and survival in mouse model
Consult the abstract
To read more about "Proximal spinal muscular atrophy"

Journal of Neuromuscular Diseases ; 1(1):65-74 ; May 2014
Amyotrophic lateral sclerosis: treatment with an antibody directed against Nogo-A delays disease progression in mouse model
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Hum Mol Genet. ; 23(16):4187-200 ; August 2014
Huntington disease: Xpro1595, a dominant negative inhibitor of soluble TNF-α, suppresses inflammatory responses and improves the impaired motor function in model mice
Consult the Pubmed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 23(16):4328-44 ; August 2014
Head and neck cancer: on-demand intracellular amplification of chemoradiation with cancer-specific plasmonic nanobubbles improves efficacy of chemoriadiation
Consult the Pubmed abstract
To read more about "Squamous cell carcinoma of head and neck"

Nat Med. ; 20(7):778-84 ; July 2014
Diagnostic Approaches

Arthrogryposis syndrome: diagnostic approach to etiology, classification, genetics, and general principles
Consult the Pubmed abstract
To read more about "Arthrogryposis syndrome"

Eur J Med Genet. ; [Epub ahead of print] ; April 2014
‘Clinical Face Phenotype Space’, an algorithm extracting phenotypic information from photographs, is relevant for diagnosis in eight syndromes with dysmorphic features
Consult the Pubmed abstract
Elife (Cambridge) ; 3:e02020 ; June 2014
Neuro-cardio-facio-cutaneous syndromes: combined MPS-Sanger sequencing based strategy as an effective diagnostic tool for heterogeneous diseases
Consult the Pubmed abstract
To read more about "Noonan syndrome and Noonan-related syndrome"

Eur J Hum Genet. ; [Epub ahead of print] ; June 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
Consult the Pubmed abstract
Eur J Hum Genet. ; [Epub ahead of print] ; May 2014
Idiopathic inflammatory myopathy: combining MRI and muscle biopsy improves diagnostic accuracy
Consult the Pubmed abstract
To read more about "Idiopathic inflammatory myopathy"

Muscle Nerve ; [Epub ahead of print] ; June 2014
Whole-body muscle MRI to detect myopathies in non-extrapyramidal bent spine syndrome
Consult the Pubmed abstract
Skeletal Radiol. ; 43(8):1113-22 ; August 2014

Patient Management and Therapy
Congenital heart malformation: cardiovascular management in pregnancy
Consult the Pubmed abstract
To read more about "Congenital heart malformation"

Circulation ; 130(3):273-82 ; July 2014
Goldenhar syndrome: early ultrasound screening should be performed in all infants born with the disorder because of a high rate of associated anomalies
Consult the Pubmed abstract
To read more about "Goldenhar syndrome"

Eur J Hum Genet. ; 22(8):1026-33 ; August 2014
Classic galactosemia: a re-evaluation of life-long severe galactose restriction for the nutrition management
Consult the Pubmed abstract
To read more about "Classic galactosemia"

Mol Genet Metab. ; 112(3):191-7 ; July 2014
Gastric cancer: review on angiogenesis inhibitors
Consult the abstract
To read more about "Gastric cancer"

Orphan Drugs: Research and Reviews ; 2014(4):55-61 ; July 2014
Anaplastic oligodendroglioma and oligoastrocytoma: review on adjuvant treatment
Consult the Pubmed abstract
To read more about "Anaplastic oligodendroglioma"
To read more about "Anaplastic oligoastrocytoma"

Cochrane Database Syst Rev. ; 5:CD007104 ; May 2014
Coenzyme Q10 deficiency syndrome: four articles on clinical presentation, biochemical diagnosis, genetics and therapy
Consult the abstracts
Molecular Syndromology ; 5(3-4):141-146 ; July 2014
Molecular Syndromology ; 5(3-4):147-155 ; July 2014
Molecular Syndromology ; 5(3-4):156-162 ; July 2014
Molecular Syndromology ; 5(3-4):187-197 ; July 2014
Uveitis associated with juvenile idiopathic arthritis: review of the treatment
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Curr Rheumatol Rep. ; 16(8):437 ; August 2014
Anti-neutrophil cytoplasmic antibody-associated vasculitis: review of the treatment
Consult the Pubmed abstract
To read more about "Anti-neutrophil cytoplasmic antibody-associated vasculitis"

Curr Rheumatol Rep. ; 16(8):430 ; August 2014
Disorder of sex development: review on transition of care for adolescents
Consult the Pubmed abstract
To read more about "Disorder of sex development"

Nat Rev Endocrinol. ; 10(7):436-42 ; July 2014
Aggressive pituitary adenoma: review on diagnosis and emerging treatments
Consult the Pubmed abstract
To read more about "Pituitary adenoma"

Nat Rev Endocrinol. ; 10(7):423-35 ; July 2014
Cataplexy: review on clinical aspects, pathophysiology and management strategy
Consult the Pubmed abstract
To read more about "Narcolepsy-cataplexy"

Nat Rev Neurol. ; 10(7):386-95 ; July 2014
Neurofibromatosis type 1: review on a multidisciplinary approach to care
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Lancet Neurol. ; 13(8):834-843 ; August 2014
Giant cell arteritis and polymyalgia rheumatica: a review
Consult the Pubmed abstract
To read more about "Giant cell arteritis"
To read more about "Polymyalgia rheumatica"

N Engl J Med. ; 371(1):50-7 ; July 2014
Non-infectious cryoglobulinemia vasculitis: review on clinical and therapeutic approaches
Consult the Pubmed abstract
To read more about "Cryoglobulinemic vasculitis"

Curr Rheumatol Rep. ; 16(5):420 ; May 2014
Kawasaki disease: review on pathophysiology, clinical manifestations and management
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Curr Rheumatol Rep. ; 16(6):423 ; June 2014
Respiratory bronchiolitis - interstitial lung disease: a review
Consult the Pubmed abstract
To read more about "Respiratory bronchiolitis - interstitial lung disease"

Orphanet J Rare Dis. ; 9(1):106 ; July 2014
Hamartomatous polyposis syndromes: a review
Consult the Pubmed abstract
To read more about "Peutz-Jeghers syndrome"
To read more about "Juvenile polyposis syndrome"
To read more about "Cowden syndrome"
To read more about "Bannayan-Riley-Ruvalcaba syndrome"
To read more about "Proteus syndrome"
To read more about "Hereditary mixed polyposis syndrome"

Orphanet J Rare Dis. ; 9:101 ; July 2014
IgG4-related diseases: a review
Consult the Pubmed abstract
Orphanet J Rare Dis. ; 9(1):110 ; July 2014
Tracheobronchopathia osteochondroplastica: a review
Consult the Pubmed abstract
To read more about "Tracheobronchopathia osteochondroplastica"

Clin Respir J. ; [Epub ahead of print] ; May 2014
Eosinophilic esophagitis: a review
Consult the Pubmed abstract
To read more about "Eosinophilic esophagitis"

Gut ; 63(8):1355-63 ; August 2014
2 new and 8 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. 2 new GeneReviews has been published for:
Dihydrolipoamide Dehydrogenase Deficiency
Mandibulofacial Dysostosis with Microcephaly

8 GeneReviews have been updated for:
Primary Hyperoxaluria Type 1
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type I
Androgen Insensitivity Syndrome
IRF6-Related Disorders
Non-syndromic Hearing Loss and Deafness, Mitochondrial
Spinal and Bulbar Muscular Atrophy
Spinocerebellar Ataxia Type 1


Orphan Drugs

Need for paediatric labelling of drugs to improve treatment in children
The American Academy of Pediatrics (AAP) published a policy statement update in Pediatrics last February on off-label use of drugs in children. The AAP originally published a statement, confirmed in 2005, to guide practitioners concerning off-label use of drugs in children. Despite regulation supporting paediatric-labelling for drugs with demonstrated efficacy and safety in children, delays to collect such data prevent children from benefiting from recently approved treatments. While the FDA does not regulate off-label use of drugs, practitioners are expected to use their professional judgement concerning off-label prescriptions.

The Best Pharmaceuticals for Children Act and the Pediatric research Equity Act were instrumental in increasing labelling of approved drugs for children. Nevertheless, the vast majority of drugs still have not been approved for paediatric use and do not include labelling for children. In the absence of regulatory approval, this statement update aims to further develop practitioners’ understanding of off-label drug use in this population. Because children require different dosage and formulations depending on their age, healthcare professionals must base their decisions on evidence of benefits to patients, data in peer-reviewed journals and expert opinion for specific age groups. The AAP further encourages practitioners to support clinical investigation for children and publication of drug trial results.

Read the open access article

Recommendations to improve efficiency of clinical trials for rare diseases
In an article published in Best Practice & Research Clinical Rheumatology, Beresford et al. review clinical trial methodologies developed to evaluate treatments for rare diseases. Since limited numbers of clinical trials are conducted on rare diseases, the authors suggest that sponsors must strive to produce results that benefit standards of care. They emphasise the need for rigorous clinical trial designs, adapted to rare conditions, in order to improve trial efficiency and obtain significant results in small patient pools. The authors further highlight the importance of selecting appropriate end points to measure clinical outcomes, relevant for clinical pathway decision making.

As mentioned in OrphaNews last July, a number of clinical trials have been developed or adapted to best address rare diseases. Adaptive trials may increase statistical significance and be more efficient in small patient groups. Participants act as their own control since their reaction to the different treatments may be assessed in short timeframes. Moreover, patients suffering from often life-threatening rare conditions are not exposed to long periods without treatment. Described in the EMA’s Guideline on clinical trials in small populations, examples include response-adaptive, early escape, Bayesian, crossover or N-of-1 trials, in which participants receive one of two, or several, treatments sequentially.

Nevertheless, Beresford et al. highlight several limitations to these trial designs. The long term effects of certain treatments in crossover and N-of-1 trials might hamper the analysis of study results. Furthermore, such trials might not produce significant results if the disease is fast evolving or in which relapse and remission periods are erratic. The authors recommend, therefore, that investigators conduct systematic reviews of the literature before designing or adapting clinical trials for rare disease treatments. The growing body of literature on rare disorders could help sponsors assess the disease natural history and mechanisms.

As collaborative initiatives increase in rare disease research, such as IRDiRC, the authors believe resources must also be pooled to harmonise clinical trial outcomes. One such project, the Core Outcome Measures in Effectiveness Trials (COMET) initiative draws on researchers globally to develop core outcome sets (COSs), i.e. “the minimum that should be measured and reported in all clinical trials of a specific condition”. Another research consortium, the EU-funded Integrated Design and Analysis of small population group trial (IDEAL) project investigates new methods of design and analysis for clinical trials in small participant pools. The project aims to generate clinical trial methodologies better adapted to rare diseases.

Consult the abstract

A study of the literature sheds light on trends in rare disease and orphan drug research
A scientometric review—or “quantitative study of scientific literature” —, provides insight into the areas of greatest interest concerning research on specific topics. In an article published in Expert Opinion on Orphan Drugs, Chen et al. review the scientific literature on orphan drugs and rare diseases in order to establish research trends in these fields. The authors used an analytic tool (CiteSpace) to visualise patterns in the scientific literature. The aim of this study is to complement expert reviews on trends in research on orphan drugs and rare diseases.

The authors collected publication data from Web of Science. Based on a core dataset of 7,753 records published between 2000 and 2014 on orphan drugs, the authors investigated the frequency at which these records were cited in some 76,897 further publications. They discovered several “citation bursts”, reflecting specific attention to a topic, thus suggesting increased focus on particular areas of interest within rare diseases and orphan drugs. Citation bursts in this review highlight correlations between common and rare diseases, focus on clinical trials for orphan drugs, value of health technology assessment for orphan medicines and industrial development of orphan medicinal products.

Keywords were also examined to illustrate trends in research. The authors discovered that, since 2000, some of the most frequently cited keywords include Crohn’s disease, single-nucleotide polymorphisms and genome-wide association. Through this scientometric review, the authors identify three areas of interest concerning rare diseases and orphan drugs: research policy, basic research and clinical research. They believe the literature reveals a lack of translational research in the field of rare diseases and orphan drugs. The authors therefore recommend that further studies be conducted on linking basic research to clinical and therapeutic development. They also recommend that further research be conducted on studies associating common and rare diseases.

Consult the abstract

Regulatory News

FDA approves Ruconest to treat patients with hereditary angioedema (HAE)
On 17th July, the FDA approved the first recombinant C1-esterase-inhibitor drug Ruconest to treat acute attacks in patients affected by hereditary angioedema (HAE). Patients with HAE have low levels of C1-esterase-inhibitor protein, resulting in oedema attacks that occur anywhere inside the body and cause swelling and pain. The C1-esterase-inhibitor protein controls protein complements that fight infection and cause inflammation. Low levels of the C1-esterase-inhibitor protein cause excessive protein complement activity, resulting in angioedema symptoms. Ruconest’s active substance, conestat alfa, acts in the same way as the natural human protein and relieves symptoms when administered during an angioedema attack. Developed by Pharming Group N.V., Ruconest was first approved in Europe by the EMA in October 2010.

Read the FDA news release


27 positive opinions recommending orphan designation at the July 2014 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 27 positive opinions issued at the July 2014 COMP meeting for the:

Opinions adopted at the second COMP discussion, following the sponsor’s response to the COMP list of questions:

- treatment of Fabry disease
- treatment of Duchenne muscular dystrophy
- treatment of Schnitzler syndrome
- treatment of cystic fibrosis
- treatment of congenital factor VII deficiency
- treatment of haemophilia A
- treatment of haemophilia B
- treatment of myelodysplastic syndromes
- treatment of apolipoprotein A-I deficiency
- treatment of ATP-binding cassette transporter
- prevention of bronchopulmonary dysplasia
- treatment of autosomal dominant polycystic liver disease
- treatment of acute pancreatitis

Opinions adopted at the first COMP discussion:

- treatment of small cell lung cancer
- treatment of acute myeloid leukaemia
- treatment of Crigler-Najjar syndrome
- treatment of cutaneous T-cell lymphoma
- treatment of pyruvate kinase deficiency
- prevention of ischaemia reperfusion injury associated with solid organ transplantation
- treatment of diffuse large B-cell lymphoma
- treatment of mastocytosis
- treatment of paroxysmal nocturnal haemoglobinuria
- treatment of primary biliary cirrhosis
- treatment of mitochondrial neurogastrointestinal encephalomyopathy
- treatment of diffuse large B-cell lymphoma
- treatment of acute myeloid leukaemia
- treatment of pancreatic cancer

Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe



The Sturge-Weber Foundation Research Grants
The Foundation strives to stimulate and support research on all aspects of Sturge-Weber syndrome, Klippel-Trenaunay, and Port Wine Stain related conditions.
Young Investigator Awards: up to US$ 30,000 per year for maximum of two years in postdoctoral fellowship support (salary stipend and conference allowance) to encourage the brightest young minds to enter the field. Applicants must be no more than four years out of M.D. or Ph.D. programme and work under the supervision of an established mentor.
Pilot Research Studies: up to US$30,000 per year for maximum of two years for innovative studies with the potential for continued support from federal or other agencies. These awards are available to investigators at any stage in their career. Applicants from accredited medical schools and universities will be considered. The award will be made to the institution where the investigator will conduct his/her work and will not pay indirect costs.
Deadline for letter of intent summarising the proposed project: 1 September, 2014.
Application deadline: 15 December, 2014.
For further details

Myotonic Dystrophy Foundation (MDF) Fund-a-Fellow postdoctoral grant programme
The Fund-a-Fellow programme supports MDF's commitment to care and a cure for myotonic dystrophy (DM) by attracting new researchers to the field of DM research and increasing the knowledge and science available regarding myotonic dystrophy. In 2013 MDF expanded the list of scientific research endeavours eligible for fellowship support, including DM research efforts focused on improving care, treatment and support of the DM patient and the patient's family, as well as research focused on molecular biology and basic science.
MDF Fund-a-Fellow grants are US$100,000 each, disbursed over two years, and are awarded to post-doctoral students who have received doctoral degrees from accredited US or international institutions within the past three years.
Application deadline: 5 September, 2014.
For further details

Call for tender Chafea/2014/Health/05 concerning the development of a manual and toolbox for the assessment of European Reference Networks
The contract is designed to a) prepare and organise the assessment process of European Reference Network proposals and healthcare provider applications and to b) develop, in consultation with Member States and interested parties, a detailed manual regarding the content of, documentation and procedure for the assessment referred in Implementing Decision 2014/287/ EU.
The assessment manual and toolbox must provide the assessment body (ies) in charge of the technical assessment with clear and robust guidance, criteria and operational tools to ensure a sound and harmonised process. In addition, they must integrate all the technical guidance tools, supporting documents and templates to be used along the sequence of all possible interdependent and linked procedures and operations at every stage of the assessment process.
Application deadline: 15 September, 2014.
For further details

DEBRA International research grants
Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This grant aims to:
  • Improve the understanding of the biology and genetics of all forms of EB, as better understanding can lead to new approaches to diagnose and treat EB;
  • Work towards the development of therapies (including possible gene-therapies, cell-therapies, drug therapies or protein therapies);
  • Understand the nature of wound healing and the development of skin cancer in EB, and seek to develop better treatments and prevention strategies;
  • Support clinical care research to improve the management of EB through symptom relief.
  • Application deadlines: 15 February or March and 15 September, 2014.
    Decisions on funding applications from these calls will normally be made in June and December, respectively.
    However, details of calls and submission dates vary from one year to another, so keep checking this page

    NBIA Disorders Association Announces Research Grants for Pantothenate Kinase-Associated Neurodegeneration (PKAN)
    The NBIA Disorders Association is accepting applications for one-year grants for clinical and translational research studies related to the early detection, diagnosis, or treatment of patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN), the most common of the NBIA disorders. NBIA is a group of rare, genetic, neurological disorders characterised by the accumulation of iron deposits in the brain and progressive degeneration of the nervous system.
    The grant programme aims to encourage meritorious research studies designed to improve the diagnosis or treatment of NBIA. Research can be conducted in the US, EU, Canada, Australia, New Zealand, Brazil, Argentina, Chile, South Africa, Japan, or Israel, and in other countries where adequate supervision of grant administration is possible.
    Application deadline: 15 September, 2014.
    For further details

    FRT - Fondation René Touraine (FRT) Award
    These grants are awarded to encourage exchanges and international collaboration between research laboratories or clinical departments for pre- or post-doctoral research fellows and dermatologists. The award consists of one €18,000 fellowship for a long-term exchange and four €4,500 fellowships for a short-term exchanges. Eligibility criteria for these grants includes: exchange with a laboratory or department from another country; involvement of at least one European laboratory; benefits for both host and home laboratories.
    Application deadline: 1 October, 2014.
    Download the application form
    For further details


    Courses & Educational Initiatives

    EUPATI Training Course
    The EUPATI Expert Training Course is an opportunity offering patient advocates expert-level training in medical research and development, specifically tailored for them. The certificate course will be a mixture of online and face-to-face modules over a 13-month period, beginning in September 2014.
    For further information

    International Summer School: Rare diseases and orphan drug registries
    Date: 15-19 September, 2014
    Venue: Rome, Italy

    The School will take the participants through the main concepts and methodological steps that must be undertaken in the establishment and management of a rare disease registry and to ensure its usefulness, scientific soundness and sustainability.
    For further information

    ‘Explique-moi les essais cliniques’: The keys to understanding clinical trials to become an actor of one’s disease (in French)
    Date: 14-15 October 2014
    Venue: Marseille, France

    The objective of this course is to sensitise patients to clinical trials through better understanding of the drug development process, in particular the way in which clinical trials are conducted.
    The course will be held in French.
    For further information

    Genodermatoses Network Training Session
    Date: 30-31 October 2014
    Venue: Paris, France

    The objective of this course is to increase knowledge on cutis laxa, ectodermal and keratodermal disorders, their detection, diagnosis and management; develop and improve skills to manage common problems in different genodermatoses; encourage health care providers to adopt a multidisciplinary approach; provide updates on latest findings and treatments; highlight the key role of patient groups; and network specialists. This training is intended for all health care providers involved in the field of rare skin diseases.
    For further information

    III International EPIRARE workshop: Rare disease and orphan drug registries
    Date: 24-25 November, 2014
    Venue: Rome, Italy

    Participants will be able to exchange experiences and present scientific results, in an effort to foster international collaboration.
    For further information

    Quality assessment of health care guidelines for rare diseases
    Date: 26-27 January, 2015
    Venue: Rome, Italy

    Target: Health professionals
    For further information

    Health care guidelines for rare diseases
    Date: 28 January, 2015
    Venue: Rome, Italy

    Target: Rare disease patients and their caregivers, patient representatives
    For further information


    What's on Where?

    Third Symposium ATP1A3 in disease: Genotype/phenotype correlations, modelling and identification of potential targets for treatment
    Date: 29-31 August, 2014
    Venue: Lunteren, The Netherlands

    Pathogenic ATP1A3 mutations causing Alternating Hemiplegia of Childhood, rapid-onset dystonia-parkinsonism, and CAPOS syndrome will be discussed at the level of genetics, medicine, physiology and biochemistry. Participants of this conference are patient families, physicians and scientists from academia and indutry.
    For further information

    3rd Nordic Conference on Rare Diseases
    Date: 4-5 September, 2014
    Venue: Helsinki, Finland

    NCRD 2014 will be the 3rd Nordic conference focusing on the rare diseases and current topics related to them. NCRD 2014 will introduce national plans and strategies for rare diseases in Nordic countries, implementation of the plans and experience gained so far. The conference offers an excellent opportunity to network and to support the exchange of best practices throughout Nordic countries. Joint action will further help patients and professionals share expertise and information across borders.
    For further information

    25th European Dysmorphology Meeting
    Date: 10-12 September, 2014
    Venue: Strasbourg, France

    The aim of this meeting is to bring young clinical geneticists and trained dysmorphologists together to share their professional experience and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development. Illustrative case reports are equally welcome. The meeting offers ample opportunities for exchanges and discussion. Everyone coming to the meeting is committed to present a communication and/or an “unknown” case report.
    For further information

    EFGCP Multi-Stakeholder Workshop & Discussion: How to Ensure Optimal Ethical Review within the New Clinical Trials Regulation?
    Date: 11 September, 2014
    Venue: Brussels, Belgium

    This workshop aims to facilitate an exchange of opinions on opportunities and threats of the new Clinical Trial Authorisation (CTA) assessment requirements for the ethical review. It will also be an opportunity for early feedback from some Member States on potential concepts and options for the successful collaboration between ethics committees and competent authorities. This event will benefit commercial and non-commercial sponsors, as well as patients who are eagerly waiting to participate in Clinical Trials and benefit from new treatment options.
    For further information

    National Huntington's Conference
    Date: 11-12 September, 2014
    Venue: Perth, Australia

    Huntington's Western Australia invites you to the National Huntington's Conference in Perth, bringing together family members, researchers, allied health professionals, care workers and members and supporters of all Huntington's Disease Associations across Australia. Presenters and keynote speakers include Prof Richard Faull (Huntington's Disease and the Human brain), Prof Nellie Georgiou-Karistianis (The Image-HD Study), Dr Andrew Churchyard (Prevalence of HD in Asia and Oceania) and Tony Mimms (Development of Youth Services in Australia and World Wide).
    For further information

    European Iron Club (EIC) Meeting 2014
    Date: 11-14 September, 2014
    Venue: Verona, Italy

    In association with the European Federation of Associations of Patients with Hemochromatosis (EFAPH), EIC 2014 will discuss the current state of art in biochemical, physiological, genetic and clinical aspects of iron in health and diseases in order to promote fruitful interaction between fundamental research and clinical practice.
    For further information

    15th International Conference on Human Genome Variation and Complex Genome Analysis (HGV2014)
    Date: 17-19 September, 2014
    Venue: Belfast, Ireland

    Around 100 delegates and 25 internationally recognised speakers will discuss, in a workshop-style atmosphere, latest progress on next generation sequencing, epigenomic variation, population studies, stratified and personalised medicine, data and knowledge sharing, biomedical informatics, genomic evolution, genomic technology advances, and human mosaicism and aging.
    For further information

    International Clinical Conference Jérôme Lejeune: Intellectual disability and the importance of assessment
    Date: 18-19 September, 2014
    Venue: Paris, France

    Renowned leaders from around the world will present their cutting-edge research on assessment and how it can contribute to improving our understanding of the different genetic conditions associated with intellectual disability, improve our evaluation of individual functioning, personalise our delivery of supports and services, and measure intervention effectiveness. The conference programme was developed for an audience of clinicians who provide care or supports to persons with intellectual disability and their families.
    For further information

    SIOPE – ENCCA Conference 2014: Joining Efforts for a Brighter Future for Children and Adolescents with Cancer
    Date: 18-19 September, 2014
    Venue: Brussels, Belgium

    The conference will address: Integrating innovative therapies into standard care; Improving quality of life in survivors; Solving inequalities across Europe; and Mobilising all stakeholders.
    EU and national policy makers, parents, patients, health professionals, researchers, regulators, charities and international bodies are welcome.
    For further information

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

    This conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Updates on new therapeutic strategies will be presented and challenging issues will be discussed. Distinguished lecturers in the field of innate immunity are expected to participate in panel discussions.
    For further information

    2nd European Conference on Aniridia
    Date: 19-20 September, 2014
    Venue: Venice, Italy

    Aniridia Europe and Aniridia Italiana are pleased to announce the 2nd European conference on Aniridia. Their aim is to improve information and treatment of aniridia, foster research by creating scientific interest, connect professionals at local and international levels, develop guidelines, and support patients. Aniridia is a rare genetic disorder affecting vision, characterised by incomplete formation of the iris.
    For further information

    4th Annual Brain Metastases Research and Emerging Therapy Conference
    Date: 19-20 September, 2014
    Venue: Marseille, France

    This European Organisation for Research and Treatment of Cancer (EORTC) initiative intends to foster a multidisciplinary approach needed to develop brain metastases (BM) projects across several tumour types and disciplines such as breast cancer, lung cancer, melanoma, imaging, pathobiology and radiation oncology. This conference aims to stimulate innovative and insightful research in a collaborative environment and improve the standard of care and methodology of clinical research. Topics will cover new models of Academia-Industry partnership and biobanking strategies in BM to enhance personalised medicine approaches.
    For further information

    9th International Research Symposium on Marfan Syndrome and related disorders
    Date: 25-27 September, 2014
    Venue: Paris, France

    The International Symposia are state-of-the-art meetings on Marfan syndrome and related disorders at which new cutting-edge research is presented and discussed. Efforts have been made to integrate both basic and translational mouse studies with clinical studies in each session. This is done to encourage discussion between clinicians and researchers so all can better understand the value and limitations of translational mouse model studies.
    Session topics include presentations on current clinical trials, controversial surgical issues and techniques, challenging issues in non-cardiovascular aspects of Marfan syndrome, clinical management of new related disorders, phenotype/genotype correlations, pathogenic mechanisms in animal models, and emerging therapeutic strategies.
    For further information

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

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

    EFGCP / DIA / EMA Annual Conference 2014 on Better Medicines for Children: ‘Explore Ways to Enhance Collaboration Between Key Players’
    Date: 30 September - 1 October, 2014
    Venue: London, UK

    The aim of this conference is to discuss on a high level how the EU paediatric regulation is working and how it contributes to children’s health. This will include a discussion on the preparedness for the 10-year report, strategic thoughts within the EMA on how to streamline paediatric development and a session dedicated to paediatric oncology.
    For further information

    Single topic symposium in metabolic liver disease
    Date: 2-4 October, 2014
    Venue: Birmingham, UK

    This symposium will include experts presenting information on diagnosis and treatment of metabolic liver disease as well as information on lipid disorders such as homozygous hypercholesterolaemia, Lysosomal acid lipase deficiency, Mitochondrial Diseases and other specific metabolic disorders.
    For further information

    ICORD 2014 Annual Meeting: Societal value of Prevention, Diagnosis and Treatment of Rare Diseases
    Date: 7-9 October, 2014
    Venue: Ede, The Netherlands

    The ICORD annual meeting will take place in conjunction with the FIGON Dutch Medicine Days and interactive sessions with ZonMw, the Dutch Drug Evaluation Board and the Dutch Clinical Trial Foundation will be organised in addition to separate ICORD sessions. The conference will cover a wide range of medical, investigational, political, social, industrial and economical topics. Sessions will include: Prevention, diagnosis and neonatal screening, Orphan drugs and personalised medicine, Patient views of the societal value, Registries and biobanks, and Worldwide collaborations. In addition to plenary sessions, the ICORD working groups, open to all, will further discuss regulatory business, research and patient organisations.
    Deadline for abstract submission: 31 August, 2014.
    For further information

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

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

    9th ISNS European Neonatal Screening Regional Meeting
    Date: 12-15 October, 2014
    Venue: Birmingham, UK

    This conference will focus on neonatal screening for various diseases.
    For further information

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

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

    II International Conference on Rare Cardiovascular Diseases
    Date: 16-17 October, 2014
    Venue: Krakow, Poland

    Under the Development of the European Network in Orphan Cardiovascular Diseases framework, co-funded by the Malopolska Regional Operational Programme, the conference is aimed at general physicians and experts treating patients with rare cardiovascular diseases. Discussions will also cover the healthcare system organisation for this group of patients. The conference is aimed at strengthening awareness on the need to coordinate research, disease registries and knowledge exchange to improve care for patients with rare cardiovascular diseases.
    For further information

    International Scientific Symposium on Angelman Syndrome 2014
    Date: 17-19 October, 2014
    Venue: Paris, France

    Organised by the French Angelman Syndrome Association (AFSA), the symposium will bring together international scientists studying the mechanisms associated with Angelman syndrome and promote exchanges between researchers to advance research in genetics and neuroscience on this rare disease. The meeting is open to official representatives of European and national Angelman syndrome organisations (up to 2 persons per organisation).
    For further information

    64th Annual Meeting of the American Society of Human Genetics: ASHG 2014
    Date: 18-22 October, 2014
    Venue: San Diego, US

    The ASHG Annual Meeting is the largest human genetics meeting and exposition in the world. This year’s meeting is expected to attract over 6,500 scientific attendees and over 200 exhibiting companies. ASHG members and leading scientists from around the world are selected to present their research findings at invited, platform, and poster sessions. Abstracts of work submitted for presentation at the Annual Meeting are published online and are citable. ASHG's Annual Meeting also features a trade show floor that offers attendees the opportunity to view state-of-the-art medical and laboratory equipment, products, services, and computer software designed to enhance human genetics research, teaching, and consultation.
    For further information

    NORD’s Rare Diseases and Orphan Products Breakthrough Summit
    Date: 22-23 October, 2014
    Venue: Alexandria, Virginia, US

    The 2014 Breakthrough Summit will concentrate on innovative content and will welcome the top leaders from the FDA, NIH, Industry, Patient Groups, Payers and Research Institutions to address the progress of rare disease diagnosis, genomics, drug development, patient engagement, product approvals, FDA oversight and market accessibility to orphan products.
    For further information

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

    Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. This conference will bring together experts on the latest research into Batten disease, experimental therapies, and clinical perspectives. Workshops will also be organised, covering topics such as patient registries and ethical issues.
    For further information

    International VHL Medical Symposium
    Date: 23-25 October, 2014
    Venue: Madrid, Spain

    Biennial International VHL Medical Symposia bring together the leaders in VHL basic, translational and clinical research, as well as the leading clinicians in clinical treatment for VHL. The gathering creates a stimulating environment while helping to make connections among these professionals that will spur the pace of progress in understanding and treating VHL. The content is aimed at medical researchers and healthcare professionals. Patients and caregivers are encouraged to attend. Their participation is highly valued as they are the true authorities of von Hippel-Lindau.
    For further information

    30th Annual Meeting of the Histiocyte Society
    Date: 28-30 October, 2014
    Venue: Toronto, Canada

    The Annual Meeting of the Histiocyte Society serves as the main forum for many of the world's most accomplished histiocytosis researchers and medical professionals to engage in vital collaboration and dialogue with one another. This year, the Society's 30th Annual Meeting will feature presentations on the study and treatment of the histiocytic disorders. Society members will present updates on ongoing Society-sponsored clinical trials on the histiocytic disorders.
    For further information

    ESID Meeting 2014
    Date: 29 October - 1 November, 2014
    Venue: Prague, Czech Republic

    The 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), offers access to the latest research and analysis in the field. Meeting participants will gain insights into innovative perspectives in both basic and clinical research. The scientific programme will draw together experts from around the world to discuss breakthroughs in diagnostic immunology, genetics and immunobiology of human diseases, advances in clinical practice, novel therapeutic approaches to tolerance induction and new insights into stem-cell and cellular therapies.
    For further information

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

    This third joint symposium on Neuroacanthocytosis addresses neurologists, interns, haematologists and biotechnologists working in the field of diagnostic, clinical and therapeutic management of patients affected by Neuroacanthocytosis and brain iron accumulation diseases. The scientific issues of this meeting will cover both the identification and characterisation of new aspects of this condition, as well as clinical developments.
    The international NBIA umbrella patient organisation NBIA Alliance offers travel grants for postdoctoral fellows and early career clinical doctors, involved in NBIA research and interested to attend the 3rd Joint NA & NBIA Symposium.
    For further information

    2nd International Rare Diseases Research Consortium (IRDiRC) Conference
    Date: 7-9 November, 2014
    Venue: Shenzhen, China

    The second conference is organised by the International Rare Diseases Research Consortium (IRDiRC), in collaboration with the BGI. The conference will gather top scientists from Europe, North America and Asia-Pacific for dynamic exchanges on knowledge and expertise. The event will also include an educational track. The ambition of this conference is to provide researchers with opportunities to establish new collaborations and confront different cultural approaches to the challenges posed by rare diseases.
    Registration extended until 15 September.
    Discounted rates for students and patient organisations.
    For further information

    4th Pan-European Conference on Haemoglobulinopathies and Rare Anaemias
    Date: 7-9 November, 2014
    Venue: Athens, Greece

    The 4th Pan-European Conference on Haemoglobinopathies and Rare Anaemias aims to educate and empower patients, develop European expert collaborative networks and improve multidisciplinary interaction concerning policy decision making.
    For further information

    Third International Symposium on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
    Date: 12-13 November, 2014
    Venue: Montreal, Canada

    The Montreal Neurological Institute and Hospital will host the 3rd International Symposium focusing on advances in understanding ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay) in the larger context of mitochondrial dysfunction in neurodegeneration. This two day symposium will bring together clinical, ataxia, and mitochondrial experts, as well as drug developers, to discuss how to accelerate the discovery of treatments for ARSACS.
    For further information

    Ataxia Telangiectasia Clinical Research Conference 2014
    Date: 13-15 November, 2014
    Venue: Nijmegen, The Netherlands

    The bi-annual A-T Clinical Research Conference 2014 brings together leading figures from the fields of clinical science and translational research in Ataxia-Telangiectasia. The objective of the conference is to share knowledge and map progress in the fields of current research and help identify priorities for future research and opportunities for collaboration. The programme includes lectures, presentation of selected abstracts, a poster session, four workshops, a ‘best poster prize’ and a social programme.
    For further information

    Cilia 2014
    Date: 18-21 November, 2014
    Venue: Paris, France

    Cilia 2014 will focus on (but not be limited to) recent advances in cilia structure and function, including trafficking, cilia and development, cilia in human genetic disease and cilia in infectious microorganisms. The event is organised by four European cilia networks: GDR CIL (France), the Ciliopathy Alliance, the Nordic Cilia & Centrosome Network (Scandinavia) and the EU-FP7 SYSCILIA programme.
    For further information

    22nd René Touraine Foundation for Dermatology Scientific Meeting
    Date: 5 December, 2014
    Venue: Paris, France
    Every year, the Scientific Meetings go over any acquired knowledge on one skin cell. Mornings are reserved for fundamental approaches, while afternoons are devoted to approaches applied to physiopathology, pharmacology and therapeutic. These are multi-subject meetings. Each presentation starts with a general overview of the terminology used, and continues with the speaker’s own research.
    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

    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

    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

    Orphan Drugs Summit 2014
    Date: 17-19 September, 2014
    Venue: Copenhagen, Denmark

    A well-established platform where pharmaceutical companies of all sizes, hospital representatives, researchers, patient organizations, venture capitalists, regulatory bodies, and industry associations meet to discuss and influence the future of orphan drugs. The Summit is designed to increase interaction among participants, promote knowledge flow and instigate partnerships and alliances for those working with orphan drugs.
    For further information

    The Orphan Drugs, Collaborations & Market Access Congress
    Date: 29-30 September, 2014
    Venue: San Diego, US

    Investors and experts in the field of orphan drugs and rare diseases will share innovative research and best practice approaches on diagnosis, rare disease R&D, business collaboration and partnerships, market access, patient involvement, risk sharing, pricing and reimbursement. Through expert speaker panels, interactive forums, an exhibition area, venture capital and funding strategy streams, the meeting hopes to create partnerships and offer solutions to address the 7,000 rare diseases afflicting patients and the financial implications of working in this field.
    For further information

    Orphan Drugs and Rare Diseases
    Date: 20-21 October, 2014
    Venue: London, UK

    SMi present the 3rd Annual Orphan Drugs and Rare Diseases Conference. The Orphan Drugs market is set to rise as a result of pharmaceutical companies now looking to orphan drugs as an essential revenue stream with 2014 set to be the year to see Orphan adoption.
    For further information

    3rd annual World Biosimilar Congress
    Date: 11-12 November, 2014
    Venue: Geneva, Switzerland

    The 3rd annual World Biosimilar Congress offers keynotes, case studies and roundtables covering topics relating to process, production, regulation and marketing strategies for biosimilars. Speakers and attendees include industry executives, middle managers, academics, key influencers and end-users.
    For further information

    The World Orphan Drug Congress Europe 2014
    Date: 12-14 November, 2014
    Venue: Brussels, Belgium

    The World Orphan Drug Congress Europe offers partnering opportunities in the orphan and rare disease field. Key networking platforms include: Dedicated networking functions; Privately hosted meeting areas; Online partnering portal and access to free smartphone app; Personal networking managers to assist in meeting scheduling.
    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: Antonia Mills
    Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
    Contact Us
    Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Barbara Cagniard, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antoni Monserrat, 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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