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Publication of the new European Regulation on Clinical Trials

Following months of negotiation and revisions of the European Commission’s Proposal for a Regulation on clinical trials, and the repeal of Directive 2001/20/EC, the much anticipated new European Regulation on Clinical Trials was finally published in the Official Journal of the European Union on 27th May. The European Council and Parliament reached an agreement in December 2013 before the Regulation was formally adopted last April. Under the new Regulation, multinational clinical trials will be easier to conduct. The new rules will facilitate cross-border collaboration for larger clinical trials, essential for research on rare diseases.

For years, patients, researchers and the industry have expressed dissatisfaction with the restrictive rules of former Clinical Trials Directive 2001/20/EC. Administrative burden, regulatory requirements and increasing fees have resulted in a marked 25% decline in clinical trial numbers conducted in Europe over the past several years. Under the new Regulation, applicants throughout the EU are required to submit a set of uniform documents for clinical trial authorisation. Applications will be processed via a single clinical trial approval system to ensure a single outcome per country, thus avoiding multiple applications for trials in different member states, and reducing fees and time for application approval. The European Commission estimates that the new rules could save researchers up to €800 million a year.

The new regulatory requirements will be adapted according to the level of risk patients are exposed to during a trial. The Regulation thereby introduces the concept of ‘low-intervention clinical trial’, for instance for studies comparing already authorised medicines. Another major objective of the Regulation is to increase transparency. All results, positive and negative, will have to be published in a publicly-accessible database, reflecting demands from initiatives such as AllTrials. OrphaNews kept a close watch on EMA's Work Programme 2014 for data sharing and transparency via a publicly-accessible database throughout April this year. Finally, while individual countries will continue to constitute their own Ethics Committees for the assessment of clinical trials, the Commission reserves the right to monitor EU and non-EU countries in order to ensure rules are uniformly enforced and compliant with EU requirements in the case of trials conducted outside Europe.

The new Regulation will come into effect in mid-2016 at the earliest. For the rare disease community, the Regulation’s support for rapid and in-depth application assessment for clinical trials on orphan drugs is encouraging. Expected benefits of the new regulation will therefore have to be patiently awaited. But many hope that the new Regulation will translate into increased numbers of clinical trials across Europe, for both common and rare diseases.

Consult the EMA press release

In a recent turn of events, the EMA announced last Thursday that it would modify data sharing rules. The announcement came following pressure from European ombudsman Emily O’Reilly, AllTrials Campaign in an open letter to EMA director Guido Rasi, the European Consumers Organisation (BEUC), the European Association of Hospital Pharmacists and GIMBE. The EMA will allow researchers to download, save and print clinical trial data for non-commercial use, a development on the previous proposed draft which limited researchers to on-screen data consultation only. While researchers welcome this draft amendment, they and Ms. O'Reilly remain concerned about the terms of use and redaction policies which would give clinical trial sponsors control over the data they publish. The new rules are expected to be effective from 1st October 2014.


EC Expert Group
Outcomes of EUCERD Joint Action workshop on Orpha codes in Health Information Systems
With only about 450 rare diseases coded according to nomenclature of the International Classification of Diseases (ICD 10th version), rare disease patients are largely untraceable in national and international health information systems. Introducing codes for every rare disease is recommended to help European and national health authorities adopt appropriate clinical pathways and measure their impact on budget and specialised health services. The Council Recommendation on an action in the field of rare diseases (2009) urges for adequate rare disease definition, codification and inventory-keeping to improve rare disease traceability in all health information systems, and provide critically needed clinical research data.

The Orpha nomenclature, an evidence-based, collaborative product of Orphanet, proposes a unique rare disease identifier via an Orpha code. Orphanet is a significant contributor for rare disease nomenclature in the 11th version of the International Classification of Diseases (ICD-11) - still a work in progress. Until ICD-11 is launched in 2017, and to ensure patients are visible in healthcare systems, Orphanet proposes adding Orpha codes to existing nomenclature used in individual country health information systems. Adding Orpha codes to existing coding systems is simpler, faster and less expensive than implementing a new coding classification.

The former European Union Committee of Experts on Rare Diseases (EUCERD) Joint Action Scientific Secretariat organised a workshop in order to inform competent authorities across Europe of the utility of Orphanet’s classification proposal and discuss the feasibility of such an implementation. Authority representatives, in charge of coding in health information systems, met on 18th March 2014 to discuss and define a strategy and next steps. This topic is on the agenda of the Commission Expert Group on Rare Diseases' forthcoming meeting, to be held on 3-4 July.

Conclusions of the workshop are available here.


National & International Policy Developments

The end of affordable orphan drugs for non-orphan indications – common disease patients to become poor orphans?
Last month’s federal court decision will exclude orphan drugs from the 340B Drug Pricing Program, which provides drug discounts to hospitals eligible under the Affordable Care Act. In July 2013, the U.S. Health Resources and Services Administration (HRSA) published the Orphan Drug Exclusion Rule. Under the final rule, orphan drugs - used for non-orphan indications - were included in the 340B Drug Pricing Program.

Annulment of the Orphan Drug Exclusion Rule means that regulation no longer exists for eligible hospitals to benefit from discounted prices on orphan drugs used for non-orphan indications. This decision comes as good news for the Pharmaceutical Research and Manufacturers of America (PhRMA) who opposed the Orphan Drug Exclusion Rule last October. But where resources are already scarce, the American Hospital Association (AHA) emphasises that patient access to affordable orphan drugs - prescribed for non-orphan indications - will further be limited.

Other European news
Big pharma and academia team up against rare diseases
The Global Medical Excellence Cluster (GMEC), a UK not-for-profit company, announced last month a five-year partnership with pharmaceutical company Pfizer Inc. to establish a mutually funded programme for research and development of innovative medicines for rare diseases. Scientists from Pfizer and GMEC partners - Cambridge University, Imperial College London, King’s College London, Queen Mary University London, University College London and Oxford University - will join forces on drug discovery projects in the field of rare diseases. The collaborative agreement builds on the UK Government’s current progress in genomics research. Initiatives, such as Genomics England, offer significant groundwork for research on - predominantly genetic - rare diseases. Both GMEC Chairman, Professor Sir John Bell, and Pfizer’s Global R&D President, Mikael Dolsten, welcome this collaboration as a fillip for translational research and the chance to break new grounds for rare disease treatments.

The European Cystic Fibrosis Society’s push for stronger standards of care
In the first article of a series of three reviews on cystic fibrosis (CF) standards of care, published in the Journal of Cystic Fibrosis, the European Cystic Fibrosis Society (ECFS) provides accurate instructions for the care and management of CF patients in European centres of expertise. The success of CF centres depends largely on coordination among multidisciplinary teams and transition of patients from paediatric to adult centres. Though principles are generally established, standards of care vary from one country to another. In the absence of appropriate funding, some eastern European countries lack adequate CF services. The author of this first article addresses the need for European cooperation on establishing standardised frameworks for CF patient care.

The second article in this series proposes best practice clinical guidelines, built on past standards of care for CF patients. These guidelines cover newborn screening, diagnosis, treatment, nutrition, end of life issues and psychosocial support. The third article of the series addresses quality management of CF patient care. The authors emphasise the central role of patients in managing their treatment and improving quality of care. The three articles also highlight the need for regular training among practitioners, healthcare programme benchmarking, peer-learning and access to best practice information for all communities involved. As one size cannot fit all countries regarding CF patient care, establishing robust guidelines and centres of expertise will contribute towards improving patient management. Such guidelines and centres could serve as models for the management of other rare and specific diseases, and are in line with European consensus on standards of care.

Guidance Documents and Recommendations
Angioedema: consensus report from the Hereditary Angioedema International Working Group on classification, diagnosis and treatment
Consult the Pubmed abstract
To read more about "Hereditary angioedema"
To read more about "Acquired angioedema"

Allergy ; 69(5):602-16 ; May 2014
Fetal cardiac diseases: scientific statement from the American Heart Association on diagnosis and treatment
Consult the Pubmed abstract
Circulation ; 129(21):2183-242 ; May 2014
Erdheim-Chester disease: consensus guidelines for the diagnosis and the clinical management
Consult the Pubmed abstract
To read more about "Erdheim-Chester disease"

Blood ; [Epub ahead of print] ; May 2014
Inherited epidermolysis bullosa: multicentre consensus recommendations for skin care
Consult the Pubmed abstract
To read more about "Inherited epidermolysis bullosa"

Orphanet J Rare Dis. ; 9(1):76 ; May 2014
Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the Pyridoxine-Dependent Epilepsy Consortium consensus recommendations
Consult the Pubmed abstract
To read more about "Pyridoxine-dependent epilepsy"

JIMD Rep. ; [Epub ahead of print] ; April 2014
Idiopathic facial palsy: reconciling clinical practice guidelines from the American Academy of Otolaryngology–Head and Neck Surgery Foundation and the American Academy of Neurology
Consult the Pubmed abstract
To read more about "Idiopathic facial palsy"

Neurology ; 82(21):1927-1929 ; May 2014

Bioinformatics, Registries and Data Management

G2C2: Web-based genetic and genomic education
Genetics/Genomics Competency Center for Education (G2C2) is a web-based repository providing genetics and genomics educational material to health care educators and practitioners. Sponsored by the National Human Genome Research Institute, the project was developed in response to the need for genetic and genomic literacy among health professional educators and an interest in centralising resources.

G2C2 contains “curriculum maps” for genetic counsellors, nurses, pharmacists, physicians and physician assistants in order to develop professional competence. The maps explore links between different professional communities, based on knowledge requirements, performance indicators, learning activities and outcome, in an effort to develop trans-disciplinary approaches to genetics/genomics education.

Patient registries: strong allies for research on rare diseases
In an article from the Journal of the International Society for Pharmacoeconomics and Outcomes Research, two managers from biopharmaceutical services provider, Quintiles, outline the advantages of rare disease patient registries for research. Establishing clinical trials for rare diseases is typically challenging due to small patient samples, lack of disease information, and diagnosis and identification gaps. The authors suggest that, while registries cannot replace clinical trials in drug development, they can provide researchers with larger data sets to study evidence on trial feasibility for rare diseases. Existing and newly collected patient data, fed into registries, provide aggregate information for epidemiological studies, projections on treatment and patient outcomes, post-marketing safety studies, and support for market access and reimbursement decisions.

New edition of the reference guide for registry implementation and management
In response to the increasing use of registries for research on rare diseases, the US Agency for Healthcare Research and Quality published its third edition of “Registries for Evaluating Patient Outcomes: A User’s Guide” in April 2014. The guide offers best practice standards for the design and implementation of registries and the analysis and interpretation of data. This document should be the Vade-Mecum of registry managers in the field of rare diseases.

Screening and Testing
Decision process to implement newborn genetic screening programmes in 11 European countries
The authors of a survey, published in the International Journal of Environmental Research and Public Health, analysed eight criteria - from stakeholder decisions to information disclosure and health technology assessment (HTA) - for funding decisions on newborn genetic screening for rare diseases across eleven European countries. Results suggest that decisions are usually made at national level, essentially by service providers, payers, governments and patients. Decisions are based on heterogeneous sets of one or several documents (e.g. HTA reports, appraisal meeting minutes, stakeholder comments). The most relevant criteria for screening decisions remain, however, health outcomes, disease severity and treatment availability. Cost-effectiveness and budget impact seem to have little influence on the decision process and, where relevant, most decisions incorporate cost estimates rather than a full economic assessment.

Though limited, the authors believe the results of this survey highlight the need for increased harmonisation on funding decisions for screening across Europe. In the US, the CDC’s ACCE model to evaluate genetic tests prompted the UK to adopt and adapt the framework in order to establish national recommendations. The American College of Medical Genetics’ (ACMG) report on newborn screening led to improved state level harmonised decisions and reduced inequality in the US. In similar efforts to establish guidelines, the EU published a 2012 report on newborn screening practices for rare disorders following a call for Tender on Evaluation of population newborn screening practices for rare disorders in July 2009. In July 2013, EUCERD issued an opinion paper on actions to improve screening quality and efficiency. The authors recommend that future frameworks be built on best practice to ensure transparent and consistent decision making in newborn screening programmes.

European policy review on newborn screening programmes
In a further review of newborn screening (NBS) programmes across Europe, the European Platform for Patients’ Organisations, Science and Industry (EPPOSI) examines decision processes and ethical considerations in NBS policy. Beyond economic considerations and diagnostic availability, most countries include screening sensitivity and patient outcome as essential criteria for establishing national screening programmes. Policy makers are invariably divided between offering tests for incurable diseases, screening only for treatable or curable disorders, and offering a wider range of, sometimes inaccurate, tests. Many argue that early detection of, even incurable, diseases such as cystic fibrosis, phenylketonuria and later-onset Duchenne muscular dystrophy increases the chance for preventive or early treatment and patient survival. Experts recommend that countries further develop harmonised national guidelines on clinical pathways for affected families.

Findings in this paper indicate that parents and patient groups are involved in decision making in only half of EU countries. Parent and physician education on NBS is considered a priority in order to reach informed decisions on screening options and disease management if and when necessary. Experts suggest that method (print material), time (third trimester of pregnancy) and source (trained health professional) of information delivery are significant in preparing parents for NBS. EPPOSI recommends that all stakeholders be included in discussions and that comprehensive cost-benefit analyses be conducted to develop NBS programmes.

Exploring personalised treatment for musculoskeletal disorders
A recent article, published in Current Opinion in Pharmacology, analyses the opportunities for stratified medicine in the treatment of musculoskeletal disorders. As disease mechanisms vary, so do patient responses to treatments, depending on the individual’s genotype. Stratified medicine aims to provide the greatest treatment benefits with the least adverse effects to patient subgroups. In order to identify patients who will most benefit from a treatment, diagnostic and prognostic markers are used to predict disease evolution and treatment response in individuals.

In Mendelian disorders, single genetic mutations usually cause disease. Targeted therapies for patients suffering from Mendelian musculoskeletal disorders, such as osteopetrosis and Paget’s disease, are increasingly applied. In osteopetrosis, information on the causal mutations, resulting in varying forms of the disorder, enables quicker diagnosis and adapted treatment - bone marrow transplants in some patients. One quarter of Paget’s disease cases are caused by a single genetic mutation - SQSTM1. Individuals are often asymptomatic until they sustain a fracture. The authors of this article suggest that screening ‘at risk’ individuals for SQSTM1 mutations could allow early intervention and prophylactic treatment where necessary. The utility of treating asymptomatic carriers of the mutation with bisphosphonate zoledronate is currently under investigation.

Consult the abstract

Four rare diseases added to the NHS newborn screening programme
The UK’s National Screening Committee (NSC) announced, in a May press release, the extension of the NHS Newborn Blood Spot Screening programme to cover four additional conditions: Homocystinuria, Maple Syrup Urine Disease, Glutaric Aciduria type 1 and Isovaleric Aciduria. The four diseases are inherited and associated with amino acid dysfunction. Babies will develop normally if they receive early treatment and careful patient management. Until now, newborns in the UK were tested for phenylketonuria, congenital hypothyroidism, sickle cell disease, cystic fibrosis and medium-chain acyl-CoA dehydrogenase deficiency.

Consult the NHS press release and BBC article.

Genetic testing in children for Batten disease
The authors of a study, published in Molecular Genetics and Metabolism, explore parents’ experience and knowledge of genetic testing in children (GTIC) for Batten disease, a rare lysosomal storage disease with onset during the child’s first seven years. Parents of Batten affected children often opt to have their non-affected children genetically tested, regardless of the lack of available treatment. The authors suggest that parents wish to confirm a child’s health risks in order to prepare for the future. Although the American Academy of Pediatrics (AAP), American College of Medical Genetics’ (ACMG) and European Society of Human Genetics (ESHG) advise against genetic testing in the absence of medical benefits, they recognise the importance of parent participation in GTIC decisions.

While AAP/ACMG further advise against medically-unsupervised direct-to-consumer genetic tests, such as 23andMe’s tests for Batten variants, the majority of parents opting for GTIC would anyway seek professional health care advice and genetic counselling. The authors emphasise the roles of the Batten Disease Support and Research Association (BDSRA) and other advocacy groups as information sources on genetic testing and counselling. With increasing testing options and patient autonomy, reliable sources of education and counselling are essential for parents to make informed decisions regarding GTIC.

Consult the PubMed abstract

Neurologists to become reproductive counsellors
In a Nature Perspectives article, specialised clinicians are encouraged to become more involved in counselling and advising parents with inherited neurological disorders on the risks and benefits of preimplantation genetic diagnosis (PGD). As patients seeking PGD for increasing numbers of indications - including rare and neurodegenerative disorders -, the gaps in physician knowledge about PGD are widening and guidelines on PGD use are becoming urgently needed. In 2013, the Ethics Committee of the American Society of Reproductive Medicine (ASRM) confirmed the validity of PGD for late-onset severe genetic disorders. In the case of cystic fibrosis, cost-benefit analyses demonstrate that IVF with PGD is cost effective and can avoid thousands of pregnancy terminations.

Based on genetic diagnosis, the authors recommend that physicians discuss PGD as a reproductive option with parents at risk of passing on the genetic disorder. The physician should refer patients to reproductive specialists. IVF with non-disclosure PGD (ND-PDG) or exclusion PGD might be suggested to couples who do not know or wish to know their genetic status. The article proposes two lists of recommendations: How to counsel patients about IVF with PGD and Non-Disclosure (ND)-PGD and exclusion PGD for late-onset neurological diseases. Each list covers issues concerning patient choices, medical benefits, ethical implications and PGD outcome.

Consult the PubMed abstract


Ethical, Legal & Social Issues

When is gamete donor screening too much screening?
The European Society of Human Reproduction and Embryology (ESHRE) Task Force on Ethics and Law document, published in Human Reproduction, investigates technical and ethical issues concerning gamete donor genetic screening. Fertilisation using donor gametes is a recognised reproductive option for couples at risk of transmitting a genetic disorder. The Task Force suggests that current guidelines need to be harmonised to meet stakeholder interests (donors, receivers, future embryos).

Guidelines vary considerably on the degree of gamete donor screening, in efforts to avoid transmission of serious genetic disorders through donor conception. The American Society for Reproductive Medicine (ASRM) guidelines require more systematic and broader screening than most European guidelines. Some US commercial donor banks appear to respond to these stringent guidelines by advertising their vast screening options, for commercial interests as opposed to clinical utility. Though the Task Force does not find normal reproductive risk to be acceptable, it does recognise that reproductive risk cannot be fully avoided. The Task Force recommends that standards be established on the basis of scientific evidence, clinical validity and utility, ethical considerations, and stakeholder interests.


New Syndromes

New syndrome of severe intellectual disability and encephalopathy associated to null mutation in PGAP1
The authors performed homozygosity mapping and exome sequencing in a family with encephalopathy and non-specific autosomal-recessive intellectual disability. They identified a homozygous 3 bp deletion in the PGAP1 gene.
Consult the Pubmed abstract

PLoS Genet. ; 10(5):e1004320 ; May 2014
Leukoencephalopathy with MRI evidence of hypomyelination due to heterozygous mutations in RARS
The authors used magnetic resonance imaging pattern recognition and whole exome sequencing to ascertain compound heterozygous mutations in RARS in four patients with hypomyelination. Clinical features included severe spasticity and nystagmus.
Consult the Pubmed abstract

Ann Neurol. ; [Epub ahead of print] ; April 2014
Heterogeneous X-linked dominant neurodegeneration due to UBQLN2 mutation
The authors reported a 5-generation family with phenotypically diverse neurodegenerative disease including relentlessly progressive choreoathetoid movements, dysarthria, dysphagia, spastic paralysis, and behavioural dementia. Disease onset varied with gender, occurring in male children and adult women. Exome sequence analyses revealed a novel mutation in UBQLN2 with X-linked inheritance in all studied affected individuals.
Consult the Pubmed abstract

Ann Neurol. ; [Epub ahead of print] ; April 2014
Novel form of autosomal recessive intellectual disability with epilepsy and strabismus caused by a defect in the CLIP1 gene in an Iranian family
The authors investigated novel autosomal recessive intellectual disability genes and detected a nonsense mutation in the CLIP1 gene in an Iranian family that also presented with epilepsy and strabismus.
Consult the Pubmed abstract

Eur J Hum Genet. ; [Epub ahead of print] ; February 2014
A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features
The authors described two sisters born to non-consanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. They proposed that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.
Consult the Pubmed abstract

Eur J Med Genet. ; 57(6):288-92 ; May-June 2014
A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5
The authors identified a novel sleep disorder in eight patients with abnormal sleep movements and behaviours, as well as obstructive sleep apnoea. All patients had antibodies against IgLON5.
Consult the Pubmed abstract

Lancet Neurol. ; 13(6):575-86 ; June 2014

New Genes

Sodium channelopathy-related small fiber neuropathy associated with gain-of-function mutations in SCN11A
Consult the Pubmed abstract
To read more about "Sodium channelopathy-related small fiber neuropathy"

Brain ; 137(Pt 6):1627-42 ; June 2014
Severe early-onset epilepsy linked to mutations in KCNT1 and PIGQ genes
Consult the Pubmed abstract
To read more about "Early infantile epileptic encephalopathy"

Hum Mol Genet. ; 23(12):3200-11 ; June 2014
Wide phenotypic spectrum of focal epilepsies, sometimes associated with brain malformation, caused by DEPDC5 mutations
Consult the Pubmed abstracts
To read more about "Rolandic epilepsy"

Ann Neurol. ; 75(5):782-787 ; May 2014
Ann Neurol. ; 75(5):788-792 ; May 2014
Progressive disorder with myoclonic epilepsy and dementia associated with a homozygous mutation in CERS1 in four siblings
Consult the Pubmed abstract
Ann Neurol. ; [Epub ahead of print] ; April 2014
Recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish caused by ADCY1 mutations
Consult the Pubmed abstract
To read more about "Autosomal recessive non-syndromic sensorineural deafness type DFNB"

Hum Mol Genet. ; 23(12):3289-98 ; June 2014
Bardet-Biedl syndrome caused by a mutation in IFT27 in a consanguineous family
Consult the Pubmed abstract
To read more about "Bardet-Biedl syndrome"

Hum Mol Genet. ; 23(12):3307-15 ; June 2014
Type 2 diabetes with dyslipidemia, hepatic steatosis, and systemic insulin resistance caused by a homozygous 19 bp frameshift deletion in LIPE in Old Order Amish
Consult the Pubmed abstract
N Engl J Med. ; 370(24):2307-15 ; June 2014
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type, is linked to the impairment of MAGMAS function
Consult the Pubmed abstract
To read more about "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"

PLoS Genet. ; 10(5):e1004311 ; May 2014
Reunion island's Larsen syndrome is caused by a B4GALT7 homozygous mutation
Consult the Pubmed abstract
To read more about "Reunion island's Larsen syndrome"

Eur J Hum Genet. ; [Epub ahead of print] ; April 2014
Chondrodysplasia - disorder of sex development associated with a loss of function mutation in HHAT
Consult the Pubmed abstract
To read more about "Chondrodysplasia - disorder of sex development"

PLoS Genet. ; 10(5):e1004340 ; May 2014
Hypertrichosis with or without gingival fibromatosis linked to mutations in ABCA5
Consult the Pubmed abstract
To read more about "Gingival fibromatosis-hypertrichosis syndrome"

PLoS Genet. ; 10(5):e1004333 ; May 2014
Infantile nephronophthisis due to mutations in CEP83, with four out of eight patients displaying intellectual disability and/or hydrocephalus
Consult the Pubmed abstract
To read more about "Nephronophthisis"
To read more about "Infantile nephronophthisis"

Am J Hum Genet. ; 94(6):905-14 ; June 2014
Inherited acute myeloid leukemia caused by a TGM6 missense mutation in a large Chinese pedigree
Consult the Pubmed abstract
To read more about "Inherited acute myeloid leukemia"

Eur J Hum Genet. ; [Epub ahead of print] ; April 2014
Huntington disease: increased dosage of SLC2A3 associated with delayed age of onset
Consult the Pubmed abstract
To read more about "Huntington disease"

Hum Mol Genet. ; 23(12):3129-37 ; June 2014
Hereditary hemorrhagic telangiectasia: genetic variants in ADAM17 found associated with pulmonary arteriovenous malformations in patients with ENG mutation
Consult the Pubmed abstract
To read more about "Hereditary hemorrhagic telangiectasia"

Proc Natl Acad Sci U S A. ; 111(21):7723-7728 ; May 2014

Research in Action

Clinical Research
Idiopathic pulmonary fibrosis: reduction of disease progression with nintedanib and pirfenidone, and no significant benefit with acetylcysteine
Consult the Pubmed abstracts
Consult this study on Orphanet
Consult this study on Orphanet

To read more about "Idiopathic pulmonary fibrosis"

N Engl J Med. ; 370(22):2071-82 ; May 2014
N Engl J Med. ; 370(22):2083-92 ; May 2014
N Engl J Med. ; 370(22):2093-101 ; May 2014
Advanced head and neck squamous cell carcinoma and nasopharyngeal carcinoma: the adenovirus E10A associated with chemotherapy is a safe and effective approach
Consult the Pubmed abstract
To read more about "Squamous cell carcinoma of head and neck"
To read more about "Nasopharyngeal carcinoma"

Mol Ther. ; 22(6):1221-9 ; June 2014
Hereditary angioedema: success of icatibant self-administration with appropriate training
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Hereditary angioedema"

Allergy ; 69(3):305-14 ; March 2014
Eosinophilic esophagitis: dietary interventions are effective in producing histologic remissions
Consult the Pubmed abstract
To read more about "Eosinophilic esophagitis"

Gastroenterology ; 146(7):1639-48 ; June 2014
Adult Still's disease: tocilizumab treatment was associated with rapid and maintained improvement in patients refractory to standard treatment
Consult the Pubmed abstract
To read more about "Adult-onset Still disease"

Arthritis Rheumatol. ; 66(6):1659-65 ; June 2014
Down syndrome: palivizumab seems to be associated with a reduction of respiratory syncytial virus-related hospitalization in children during the first 2 years of life
Consult the Pubmed abstract
To read more about "Down syndrome"

Pediatrics ; 133(6):1031-7 ; June 2014
Neurofibromatosis type 1: sirolimus improved pain in three patients with severe plexiform neurofibromas
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Pediatrics ; 133(6):e1792-7 ; June 2014
Variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated tetralogy of Fallot
Consult the Pubmed abstract
To read more about "Tetralogy of Fallot"

Hum Mol Genet. ; 23(12):3115-28 ; June 2014
Turner syndrome: possible increased risk of meningioma/brain tumor
Consult the Pubmed abstracts
To read more about "Turner syndrome"

Eur J Med Genet. ; 57(6):269-74 ; May-June 2014
Eur J Hum Genet. ; 57(6):312-3 ; May-June 2014
Stem Cells

Leber hereditary optic neuropathy: cultured retinal progenitor cells can integrate in close proximity to the ganglion cell layer and preserve retina function in a mouse model
Consult the Pubmed abstract
To read more about "Leber hereditary optic neuropathy"

Eur J Hum Genet. ; [Epub ahead of print] ; February 2014
Gene Therapy
Duchenne muscular dystrophy: partial restoration of cardiac function with an AAV vector expressing a modified neuronal nitric oxide synthase in aged mdx mice
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet. ; 23(12):3189-99 ; June 2014
Krabbe disease: therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model
Consult the Pubmed abstract
To read more about "Krabbe disease"

Hum Mol Genet. ; 23(12):3250-68 ; June 2014
Therapeutic Approaches

Acute intermittent porphyria: RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in model mice
Consult the Pubmed abstract
To read more about "Acute intermittent porphyria"

Proc Natl Acad Sci U S A. ; 111(21):7777-82 ; May 2014
Parkinsonism linked to LRRK2 mutations: Ebselen, a peroxidase mimic, rescued the phenotypic features in a Drosophila model
Consult the Pubmed abstract
To read more about "Young adult-onset Parkinsonism"

Hum Mol Genet. ; 23(12):3157-65 ; June 2014
Duchenne muscular dystrophy: long-term treatment with naproxcinod significantly improves skeletal and cardiac disease phenotype in the mdx mouse model
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet. ; 23(12):3239-49 ; June 2014
Diagnostic Approaches

Validation of an effective method for non-invasive diagnosis of fetal aneuploidy using a semiconductor sequencer, which reduces the time and cost of sequencing
Consult the Pubmed abstract
To read more about "Trisomy 13"
To read more about "Trisomy 18"
To read more about "Down syndrome"
To read more about "Gonosome anomaly"

Proc Natl Acad Sci U S A. ; 111(20):7415-20 ; May 2014
Tubulinopathies: review on the key features for the diagnosis
Consult the Pubmed abstract
To read more about "Lissencephaly due to TUBA1A mutation"
To read more about "Polymicrogyria with optic nerve hypoplasia"
To read more about "Polymicrogyria due to TUBB2B mutation"
To read more about "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"

Brain ; 137(Pt 6):1676-700 ; June 2014
Autoimmune encephalitis as differential diagnosis of infectious encephalitis
Consult the Pubmed abstract
Curr Opin Neurol. ; 27(3):361-8 ; June 2014

Patient Management and Therapy
Cerebral arteriovenous malformation: no increased risk of hemorrhage was found in patients during pregnancy and the puerperium
Consult the Pubmed abstract
To read more about "Cerebral arteriovenous malformation"

Neurology ; 82(20):1798-803 ; May 2014
Autoimmune pancreatitis can develop into chronic pancreatitis
Consult the Pubmed abstract
To read more about "Autoimmune pancreatitis"

Orphanet J Rare Dis. ; 9:77 ; May 2014
Advanced renal cell carcinoma: pazopanib could become the most commonly used drug for first-line therapy
Consult the abstract
To read more about "Familial renal cell carcinoma"
To read more about "Non-familial renal cell carcinoma"

Expert Opinion on Orphan Drugs ; 2(6):605-616 ; June 2014
B-cell chronic lymphocytic leukemia: review on bendamustine treatment
Consult the abstract
To read more about "B-cell chronic lymphocytic leukemia"

Expert Opinion on Orphan Drugs ; 2(6):617-623 ; June 2014
Cutaneous T-cell lymphoma: review on denileukin diftitox treatment
Consult the abstract
To read more about "Primary cutaneous T-cell lymphoma"
To read more about "Mycosis fungoides and variants"
To read more about "Sézary syndrome"

Expert Opinion on Orphan Drugs ; 2(6):625-634 ; June 2014
Fragile X syndrome: review on targeted treatments
Consult the abstract
To read more about "Fragile X syndrome"

Expert Opinion on Orphan Drugs ; 2(6):531-543 ; June 2014
Primary sclerosing cholangitis: an overview of current and future therapeutic strategies
Consult the abstract
To read more about "Primary sclerosing cholangitis"

Expert Opinion on Orphan Drugs ; 2(6):545-556 ; June 2014
Chordoma: assessment of future treatment and management strategies
Consult the abstract
To read more about "Chordoma"

Expert Opinion on Orphan Drugs ; 2(6):557-565 ; June 2014
Pseudoxanthoma elasticum: review on diagnostic features, classification and treatment options
Consult the abstract
To read more about "Pseudoxanthoma elasticum"

Expert Opinion on Orphan Drugs ; 2(6):567-577 ; June 2014
Alveolar soft-tissue sarcoma: review on treatment options in pediatric patients
Consult the abstract
To read more about "Alveolar soft-tissue sarcoma"

Expert Opinion on Orphan Drugs ; 2(6):579-589 ; June 2014
Systemic-onset juvenile idiopathic arthritis: a review on early cytokine blockade
Consult the Pubmed abstract
To read more about "Systemic-onset juvenile idiopathic arthritis"

Arthritis Rheumatol. ; 66(6):1405-13 ; June 2014
Preparing adolescents with chronic disease for transition to adult care
Consult the Pubmed abstract
Pediatrics ; 133(6):e1639-46 ; June 2014
Cystic fibrosis: review on children’s experiences
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Pediatrics ; 133(6):1683-97 ; June 2014
Li-Fraumeni syndrome: a review
Consult the Pubmed abstract
To read more about "Li-Fraumeni syndrome"

Hum Mutat. ; 35(6):654-62 ; June 2014
Syndrome with corpus callosum agenesis /dysgenesis as a major feature: a review on clinical, genetic and imaging findings
Consult the Pubmed abstract
To read more about "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature"

Brain ; 137(Pt 6):1579-1613 ; June 2014
Rare inherited renal diseases: review on challenges, opportunities, and perspectives
Consult the Pubmed abstract
To read more about "Rare renal disease"

Lancet ; 383(9931):1844-59 ; May 2014
Interauricular communication: a review
Consult the Pubmed abstract
To read more about "Interauricular communication"

Lancet ; 383(9932):1921-32 ; May 2014
Review on painful and painless channelopathies
Consult the Pubmed abstract
To read more about "Channelopathy-associated congenital insensitivity to pain"
To read more about "Hereditary sensory and autonomic neuropathy type 2"
To read more about "Hereditary sensory and autonomic neuropathy type 7"
To read more about "Erythromelalgia"
To read more about "Paroxysmal extreme pain disorder"
To read more about "Familial episodic pain syndrome with predominantly upper body involvement"
To read more about "Familial episodic pain syndrome with predominantly lower limb involvement"

Lancet Neurol. ; 13(6):587-599 ; June 2014
Erdheim-Chester disease: two reviews
Consult the Pubmed abstracts
To read more about "Erdheim-Chester disease"

Curr Rheumatol Rep. ; 16(4):412 ; April 2014
Mayo Clin Proc. ; [Epub ahead of print] ; May 2014
3 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 counselling of patients and families with specific inherited conditions.

3 new GeneReviews have been published for:
SHORT syndrome
TRPV4-associated disorders
KCNQ3-related disorders

8 GeneReviews have been updated for:
SCN1A-related seizure disorders
Lesch-Nyhan syndrome
Hypohidrotic ectodermal dysplasia
Carnitine palmitoyl transferase II deficiency
Lynch syndrome
Juvenile polyposis syndrome
Thrombocytopenia absent radius syndrome
Pendred syndrome/DFNB4


Orphan Drugs

Biopharmas Biogen IDEC and Sobi to help alleviate haemophilia burden in developing countries
In efforts to improve quality of care for patients suffering from haemophilia in the developing world, Australian biotech company Biogen IDEC and Swedish Orphan Biovitrum AB (Sobi) have announced they will produce one billion units of clotting factor destined for humanitarian programmes in developing countries. The companies will donate half a billion units to the World Federation of Hemophilia over five years and the remaining half for future needs.

Some 400,000 people worldwide suffer from haemophilia, of which 300,000 have limited access to diagnosis and treatment. The donation is expected to help physicians worldwide treat over 75,000 joint bleeding episodes and over 2,000 life threatening bleeding episodes. The clotting factor units will also allow surgical procedures to be carried out which would otherwise not be possible. Around 85% of clotting factor units will be donated to treat haemophilia A and 15% to treat haemophilia B. Shipments to humanitarian programmes are expected to begin during the second half of 2015.

Consult Biogen IDEC's press release

Global Orphan Drug Market Outlook 2018
Competition from generics and the current economic situation have pressed pharmaceutical companies to turn their focus from manufacturing traditional essential medicines to investing in the new business models and orphan drugs. This report explores how investing in orphan drug discovery could help pharmaceutical companies counteract loss of revenue due to patent expiry on blockbuster drugs. Government incentives for orphan drug development and strong FDA and EU Commission support have already attracted a number of pharmaceuticals into the orphan drug arena. The report suggests that orphan drugs could contribute to recovery and stability within the market.

The "Global Orphan Drug Market Outlook 2018" report provides research on the following:
- Global & Regional Orphan Drug Market Overview
- Orphan Drug Designation Criteria Across Key Markets
- Market Specific Reimbursement Policy & Regulatory Framework
- Orphan Drug Pipeline by Phase, Orphan Designated Disease & Country
- Competitive Landscape

To order the report

Regulatory News

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

- treatment of cystic fibrosis
- treatment of invasive aspergillosis
- treatment of Stargardt’s disease
- treatment of Usher syndrome
- treatment of choroideraemia
- treatment of familial benign chronic pemphigus (Hailey-Hailey disease)
- treatment of Prader-Willi syndrome
- treatment of chronic lymphocytic leukaemia /small lymphocytic lymphoma
- treatment of primary sclerosing cholangitis
- treatment of pre-eclampsia

The COMP also reviewed the grounds for their opinion of 9 April 2014 for the:

- treatment of mucopolysaccharidosis IIIA (Sanfilippo A syndrome)

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

Positive opinion on conditional marketing authorisation for Translarna™ (ataluren)
Following its negative opinion earlier this year, the European Committee for Medicinal Products for Human Use (CHMP) has given PTC Therapeutics the green light on conditional marketing of Translarna™ (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy in patients aged five years and above.

Translarna™ is the first treatment for the underlying causes of Duchenne muscular dystrophy to reach the market. In phase 2b clinical trials, Translarna™ was demonstrated to slow disease progression, measured by the six minute walk test. Results were observed in patients within 48 weeks of treatment, followed by positive secondary results. The CHMP’s final decision on marketing approval will depend on the outcome of PTC Therapeutics’ ongoing confirmatory clinical trials. In the meantime, conditional marketing authorisation allows the company to distribute Translarna™ in 28 EU member states, as well as Iceland, Liechtenstein and Norway.

Consult the EMA press release



The Histiocytosis Association 2014 Request for Research Proposals (RFRP)
Each year, the Association awards individual research grants in an effort to promote better treatments and a cure for histiocytic disorders. The association aims to foster partnership in combating histiocytic disorders.
Application deadline: 1 July, 2014
For further details

Ataxia research grants
The National Ataxia Foundation (NAF) is committed to funding the best science relevant to hereditary and sporadic types of ataxia in both basic and translational research. NAF invites research applications from U.S.A. and international non-profit and for-profit institutions. One-year seed money grants of up to $15,000, and promising proposals up to a maximum of $30,000, will be considered for early or pilot phases of studies and ongoing investigations.
Deadline for letter of intent (1/2 to 1 page abstract with research aims): 15 August, 2014.
Deadline for full application: 15 September, 2014.
For further details

Fondation Jérôme Lejeune Grants
The Scientific Advisory Board of the Jérôme Lejeune Foundation invites researchers investigating genetic intellectual disability to submit their projects on treatment identification to improve cognitive deficits of patients, especially those with trisomy 21 (Down syndrome) and other rare abnormalities such as fragile X, cri du chat, Rett, Williams-Beuren, Prader-Willi, Angelman, and other syndromes, excluding autism.
Jérôme Lejeune Foundation will provide a special consideration to projects leading to a better understanding of the mechanisms of accelerated brain aging associated with trisomy 21.
Grants are offered for one or two years. Funding is around €20,000 per year.
The Scientific Advisory Board reviews applications twice a year (November and December).
Application deadline for the second funding cycle: 19 August, 2014
For further details

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 USD 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 $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

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 deadline: 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

    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


    Partnersearch, Job Opportunities
    Telethon Italy call for two career award positions
    The mission of the Fondazione Telethon is to advance excellent research in Italy towards a cure for human genetic diseases. To this aim, Telethon funds Career Awards for outstanding scientists wishing to establish their independent laboratory in a public or private non-profit Italian research institution.
    Three position levels are under consideration: Assistant (entry level), Associate and Senior Telethon Scientist.
    In the present Call, two Assistant Telethon Scientist positions are open. Awards will depend on availability of funds.
    The successful candidates will join the Dulbecco Telethon Institute (DTI), a virtual institute whose members are given the title of “Telethon Scientists”. These talented scientists work on a broad range of topics and in different Italian Institutions but share the same principles of rigour and excellence in the pursuit of scientific research aimed at understanding, preventing and curing genetic diseases.
    Application deadline: 18 July, 2014.
    Calls for application


    Courses & Educational Initiatives

    Intermediate Filaments in Neuromuscular Disorders
    Date: 6 July, 2014
    Venue: Nice, France

    This workshop is a satellite to the XIIIth International Congress on Neuromuscular Diseases (ICNMD2014). This one-day workshop is organised into four sessions dedicated to a particular type of intermediate filament and its associated pathologies: Desmin, Plectin, Synemin and Lamins.
    For further information

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

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

    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

    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?

    Updates on Neurometabolic Disorders
    Date: 19-20 June 2014
    Venue: Amsterdam, The Netherlands

    Expert international and national speakers will present updates and new trends in neurometabolic disorders and their link to cancer.
    For further information

    29th Annual Annual Huntington's Disease Society of America's (HDSA) Convention
    Date: 20-22 June, 2014
    Venue: Louisville, US

    This year’s convention will include numerous workshops to help patients, caregivers, and clinicians learn more about the behavioural, cognitive, physical, and legal issues associated with caring for a person with Huntington's disease.
    For further information

    European Reference Networks
    Date: 23 June, 2014
    Venue: Brussels, Belgium

    The aim of the conference is to discuss the state of the art on organising highly specialised networks and expertise centres across the EU. The conference will also investigate next steps of the deployment process, in preparation of the forthcoming call for European Reference Networks in 2015.
    For further information

    Genomic Technologies and Biomaterials for Understanding Disease
    Date: 23-24 June, 2014
    Venue: San Diego, US

    The conference will discuss how advances in biomaterial sciences are being harnessed in the context of genomics and cell based technologies to deepen our understanding of the biology and revolutionise translational medicine. Topics will include advances in sequencing, gene editing and therapy, single cell analysis, stem cell and tissue engineering.
    For further information

    EUROPLAN II National Conference
    Date: 24 June, 2014
    Venue: London, UK

    Rare Disease UK is hosting the UK Europlan National Conference. The event is an opportunity to examine the content of the UK Strategy for Rare Diseases and the national plans for implementation. A report outlining the findings of the conference will be produced and the findings disseminated to all attendees and Rare Disease UK members.
    For further information

    New Tools, New Targets: Novel Approaches for Identifying and Characterizing Epigenetic Modifications
    Date: 25 June, 2014
    Venue: webinar

    A panel of experts will present breakthrough research data obtained using novel experimental approaches in a live, online educational seminar. Significant efforts are underway in both academic and industrial laboratories to identify and validate new so-called reader, writer, and eraser enzymes, as well as their histone substrates. Understanding the functions of these proteins may lead to a new generation of therapeutics. While various molecular biology techniques were initially used to identify and validate epigenetics enzymes and their substrates, novel approaches are now available to perform pharmacological characterisation of histone-modifying enzymes.
    For further information

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

    This bi-annual meeting is organised by the European Working Group on Gaucher Disease in order to promote the presentation and publication of scientific data and research, and to discuss freely all aspects of Gaucher disease. Physicians, researchers and patients who are interested in Gaucher disease are welcome to attend the meeting.
    For further information

    2014 Annual Connect Conference
    Date: 26-29 June, 2014
    Venue: Chicago, US

    PPMD's 20th Annual Connect Conference started as a few dozen parents and a handful of experts gathered to discuss and learn all they could about Duchenne. The event has grown into a meeting where families, physicians, researchers, industry leaders, and experts of all kinds gather to speak face-to-face about Duchenne. It is your opportunity to share support and build partnerships. The PPMD Annual Connect Conference helps shape our understanding of the Duchenne landscape.
    For further information

    French Haemophilia Association National Congress
    Date: 27-29 June, 2014
    Venue: Pau, France

    The French haemophilia association’s annual congress will address matters of management, diagnosis, heredity and treatment in haemophilia and von Willebrand diseases in a series of workshop-style sessions. Participants will also discuss issues relating to patient activism and research.
    For further information

    Retina International 2014 - 18th World Congress of Ophthalmology
    Date: 27-29 June, 2014
    Venue: Paris, France

    French and International scientists will provide a full overview of the latest medical advances in eye diseases. Some sessions will be dedicated to DMLA, retinis pigmentosas, optic neuropathies and USHER syndrome. Establishing a balance of clinical trials around the world and discussing the perspective of future trials, RETINA 2014 congress will enable you to benefit from the latest updates and contribute to planning for the future.
    For further information

    Day To Day With SMA
    Date: 28-29 June, 2014
    Venue: Warwickshire, UK

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

    2014 World Tuberous Sclerosis Complex (TSC) Conference
    Date: 3-6 July, 2014
    Venue: Washington DC, US

    The TS Alliance is an important resource for people with TSC. The 2014 event will support an expanded, worldwide TSC community. Over 1,100 attendees are expected from across the globe, including families and individuals with TSC, caregivers, healthcare professionals and researchers.
    For further information

    12th European Conference on Rare Diseases: Living with a rare disease
    Date: 4-6 July, 2014
    Venue: Spala, Poland

    The objective of the conference is to introduce the multifaceted nature of rare diseases. The conference, seminars and training sessions of this event aim to increase awareness regarding coordinated actions to improve the quality of life of patients with MPS and rare diseases in Poland and globally.
    For further information

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

    The 13th ICNMD will bring together experts to share knowledge and experience in the field of neuromuscular diseases. Physicians and scientists, involved in diagnosis, care, research in basic mechanisms and therapeutic approaches would greatly benefit from this event.
    For further information

    Myotubular Trust Family Conference
    Date: 12 July, 2014
    Venue: London, UK

    The Myotubular Trust wishes to invite anybody, whose life is affected by myotubular or centronuclear myopathy, to attend their Family Conference. The Conference is free-of-charge and provides a unique opportunity for delegates to meet other affected families and individuals, hear from the leading researchers in this field and discover some of the latest ideas about how to manage the condition. For further information

    Phenotype Day - joint iniative with BioLink and BioOntologies SIG
    Date: 12 July, 2014
    Venue: Boston, US

    Developed jointly by the Bio-Ontologies and BioLINK special interest groups, Phenotype Day will bring together researchers from different disciplines to share information on phenotype resources and issues as well as experience in defining, representing, processing and using phenotype data.
    For further information

    Disorders of the Corpus Callosum Conference
    Date: 18-20 July, 2014
    Venue: Massachusetts, US

    Featuring 35 informative lectures and discussion groups, the conference's professional presentations are grouped into five tracks under the headings of Medical, Therapies, Behaviours, Education, and Financial/Community Life. Panel question and answers discussions will be held on the medical, genetic and behavioural aspects of disorders of the corpus callosum. Adults over 18 years, diagnosed with a DCC, are invited to participate in discussion groups and life-skills workshops.
    For further information

    Ehlers-Danlos Conference 2014
    Date: 18-20 July, 2014
    Venue: Parramatta, Australia

    The conference will cover topics that affect children, adolescents and adults with Ehlers-Danlos Syndrome, offering a comprehensive programme with local and international experts.
    For further information

    Fabry Support Group Australia 20th Anniversary
    Date: 26 July, 2014
    Venue: Melbourne, Australia

    FSGA’s 20th anniversary dinner celebration.
    For further information

    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

    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

    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

    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 tumor 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

    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 call for abstracts: 30 June 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

    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.
    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.
    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 4 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

    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

    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

    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


    Media, Press & Publications

    Rare Diseases and Orphan Drugs: Keys to Understanding and Treating the Common Diseases
    This book explores the concept that progress in the field of rare diseases can throw light on understanding and treating common diseases. Five common foes of today’s society - aging, cancer, cardiovascular, metabolic and infectious diseases - are complex diseases, based on complex genetic and environmental factors. Manifestation of such diseases often depends on highly complex pathological events. Rare diseases, more frequently caused by a single gene mutation, provide insight into how specific genetic alterations can trigger a cascade of events leading to disease expression.

    The author of this book, Jules Berman, suggests that disease processes in certain rare and common diseases are comparable. This book may appeal to clinicians and researchers by drawing on lessons learnt about rare diseases and their relevance for common diseases. The book covers disease pathological mechanisms, understandable to non-experts, concepts in molecular biology and genetics, and how future research into rare diseases may provide answers for the treatment of all diseases.

    Product Details:
    ISBN-13: 9780124199880
    Publisher: Elsevier Science
    Publication date: 6/16/2014
    Pages: 400

    To order the book:
    Jules Berman site
    Elsevier store
    Barnes & Noble

    The International Journal of Biochemistry & Cell Biology Review Articles
    The July issue of The International Journal of Biochemistry & Cell Biology focuses on "Cystic Fibrosis: From o-mics to cell biology, physiology, and therapeutic advances".

    The International Journal of Biochemistry & Cell Biology
    Volume 52, Pages 1-200 (July 2014)
    Edited by Jean-Michel Sallenave and Aleksander Edelman

    To order the issue or individual articles

    Colombian documentary on Epidermolysis Bullosa
    Michaela O’Brien and Melissa Langer’s documentary In Crystal Skin follows four individuals from Bogotá, Colombia, living with Epidermolysis Bullosa, a rare skin disease for which there is no cure. The film portrays the struggles and courage of these individuals and the support of families and health professionals in their unrelenting quest for a treatment.

    Click on the image below to view the film preview:

    For further details


    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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