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Editorial
 
You are rare, but that’s not enough: The role of patient organisations in understanding rare disease complexity
 



Based on past research and qualitative surveys of three rare disease patient organisations (POs) in France (Association HPN - Aplasie Médullaire, Association Lupus and Génération 22) and three corresponding POs in Portugal (Associação Portuguesa de Hemofilia, Associação dos Doentes com Lupus and Associação de Pais e Amigos de Portadores do Sìndroma de Rubinstein-Taybi), the authors of a recent article, published in BioSocieties, investigate the role of POs in forging and fostering research on rare diseases. As the notion of rareness developed in response to unmet medical needs for isolated groups of patients, so has the appearance of POs to voice these needs. NORD (National Organization for Rare Disorders), AFM (French association against myopathies) and, subsequently, EURORDIS (European Organisation on Rare Diseases) were instrumental in developing PO activism across the United States and Europe, respectively.

While POs have increased in numbers, some have grown concerned that too much attention is given to what the authors refer to as ‘politics of numbers’ in rare diseases. ‘Politics of numbers’ may be one criterion for disease rareness, but numbers alone do not take into account disease specificity and burden. POs’ primary concern is to reach accurate diagnoses and understand rare disease complexity. Rareness can result from under-diagnosis and activists realise that patient narratives and knowledge on diseases are more important than numbers alone to gain attention. Rabeharisoa et al. suggest that the level of POs’ understanding of rare diseases will influence their authority to engage with research communities and initiate clinical investigations. AFM activism illustrates how patients and experts succeeded in focusing researcher and clinician attention on myopathies. The authors highlight that, unless POs move first to draw the attention of specialists to their specific needs, researchers might not privilege such areas of investigation.

The survey of the six French and Portuguese POs suggests that combining patient registries, clinical disease profiles, centres of reference for diagnosis and care, and PO and expert networks is essential to develop comprehensive rare disease treatment. Rabeharisoa et al. propose that research based on these associated criteria - in what they call ‘politics of singularisation’ - is economically appealing and attracts support from the industry. The French association (Association HPN - Aplasie Médullaire) on paroxysmal nocturnal haemoglobinuria (PNH) illustrates the benefits of disease and patient singularisation. The PO’s patient registry of young adults suffering from both PNH and bone marrow depression allowed Saint-Louis Hospital to conduct therapeutic research based on a strong understanding of the compound disease. Thanks to this tailored approach, a drug was marketed within five years of screening for molecules. Despite ‘politics of numbers’ still dominating the rare disease scene, the authors support the notion that, by drawing on differences and similarities between rare disease patients, ‘politics of singularisation’ facilitates the design of multi-disciplinary regimens tailored to the needs of specific patient pools.

Consult the abstract


 


 
National & International Policy Developments
 


 
Filipinos still waiting for their Rare Disease Act
 
Filipino families and the Philippine Society for Orphan Disorders (PSOD) are still waiting and hoping for the Rare Disease Act of 2014 to be passed into law this year, in order to benefit Filipinos affected by rare diseases. Originally announced in February 2009, the Rare Diseases Act of the Philippines was followed by a second bill filed in 2010 and the present third bill filed earlier this year. The principles of all three bills are in essence the same.

PSOD president Cynthia Magdaraog hopes that this year’s significant Department of Health budget increase - a boon to the Philippine Health Insurance Corporation (PhilHealth) - will favour the passage of the bill into law. The Rare Disease Act proposes establishing a health care programme, within the government’s universal health system, in order to provide early diagnosis and treatment of rare disease patients. The Rare Disease Act recommends building a Rare Disease Registry, in association with the NIH, for efficient identification of rare diseases, patients and orphan drugs.

Press release


 
In the fast lane to address unmet medical needs: The FDA’s new Expedited Access Programme for Medical Devices
 
The FDA proposes a new fast track programme to approve high-risk medical devices for diagnosis or treatment of serious diseases for which no technology currently exists. Built on the Innovation Pathway, the Expedited Access PMA (EAP) guidance document issued in April this year recommends pre-market approval to provide patients with early access to safe and effective medical devices.

An addition to the FDA’s existing four fast track programmes - Fast Track, Breakthrough Therapy, Accelerated Approval and Priority Review - for speedier development and review of new products to address unmet therapeutic needs, the EAP requires medical devices to address life-threatening conditions. Devices under investigation must represent novel and breakthrough technologies with a marked benefit for patients over existing products.

The EAP emphasises the need for collaboration between the FDA and sponsors to expedite product development according to FDA safety and efficacy standards. If the product receives early approval, the FDA requires sponsors to collect post-market data for device risk/benefit assessment to strengthen patient safety.

FDA news release


 
Molecular variations in antibodies may not be enough to qualify as novel products: The FDA’s criteria
 
The FDA has issued a guidance document describing criteria for the comparison of monoclonal antibody products under the Orphan Drug Regulations. The agency stipulates that an orphan drug is eligible for the seven-year exclusive approval period “only if the same drug has not already been approved for the same use or indication”. In order to gain designation approval, the candidate drug must demonstrate clinical superiority and a composition distinct from any existing product.

The FDA’s recent guidance document proposes additional criteria to differentiate monoclonal antibody products from each other. Traditionally, two products are considered the same if they “contain the same principal molecular structural features”, are “intended for the same use as a previously approved drug” or “if the only differences in structure between them are due to posttranslational events of infidelity of translation or transcription or are minor differences in amino acid sequence”.

The present guidance proposes that two monoclonal antibody drugs are the same if the amino acid sequence of their complementarity-determining region (CDR) - the antigen-binding pocket on the variable region - are identical or contain only minor variations. Other amino acid differences outside the CDR region will also be insufficient to differentiate between two antibodies. Combination antibodies - composed of two sets of CDRs - will be considered the same if their combined CDRs are identical or contain only minor amino acid variations. The FDA will also consider two products to be the same even if they contain differences outside their CDR region. These areas include the framework region (CDR supporting structure), the constant region and the antibody fragments (antigen-binding ends and stem).


 
Similar by name but not by action: The FDA must adopt specific names for individual biological products
 
In a letter to the FDA, the National Organization for Rare Disorders (NORD) urges Commissioner Margaret Hamburg to “adopt distinguishable names for biologics, including biosimilars”. Unlike generic drugs, which are more frequently interchangeable, equivalent biologics and biosimilars do not necessarily act in the same way in each patient. By nature, biosimilars are similar to- but not substitutes for- or interchangeable with biologics. Not only will distinguishable biologic and biosimilar names help physicians provide rare disease patients with the most adapted treatment courses, they are also necessary for health care providers to track rare disease patient regimens and adverse events accurately.

NORD news release

 
Other European news
 
The promises of stem cell therapy always getting closer
 
Launched in 2010, the EU co-funded EndoStem 7th Framework Programme is bearing its fruit – or stem cells. The fifteen-strong partnership, coordinated by Professor David Sassoon and composed of academic institutes, biotechs and pharmaceutical companies, pooled resources to develop new ways of stimulating stem cells in rare muscle disorders. The consortium investigates innovative methods to reproduce physiological signals, associating skeletal muscle, vessels, the immune system and stem cells, to promote self-repair in damaged muscle tissue.

This research holds great promise for the treatment of muscular dystrophies. Clinical trials, based on four different pharmacological approaches, are being conducted to mobilise endogenous stem cells in damaged muscle tissue. The research offers potential for translation into innovative and high-precision biopharmaceuticals. The project, due for completion by the beginning of next year, brings new hope to patients suffering from congenital muscular dystrophies and other rare diseases, as well as more common degenerative disorders.

CORDIS news release

 
Other International News
 
Scouting for rare disease causing genes: Results from Canada’s FORGE
 
Launched on 1st April 2011, the outcome of Canada’s national rare disease gene discovery consortium (FORGE) 2-year project, led by Dr. Kym Boycott, was recently announced and reported in the American Journal of Human Genetics. The consortium, composed of 170 rare disease experts from 17 countries, aimed to identify genes associated with a broad range of early-onset single-gene rare disorders in the Canadian population. Throughout the 2-year project, 264 rare disorders were studied based on whole-exome sequencing of 783 collected DNA samples. Disease-causing mutations were identified in 67 genes not previously linked to disorders. Identified novel genes contribute towards understanding the biological mechanisms of rare diseases.

The authors observed that mutations in separate genes, implicated in similar biological pathways, can either result in syndromes with common features or they can cause very distinct diseases. The investigators also discovered that a number of disease-causing gene mutations are often not picked up using traditional methods, which strengthens evidence on the benefits of whole-exome sequencing techniques. Understanding these pathways will contribute towards finding new therapies for rare diseases. Presented at ECRD 2014, FORGE’s successor, Care4Rare, will continue to investigate new genes, diagnostic techniques and therapeutic avenues for rare diseases.

 
Guidance Documents and Recommendations
 
Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline
 
Consult the Pubmed abstract
 
To read more about "Catecholamine-producing tumor"
To read more about "Carney-Stratakis syndrome"

 
J Clin Endocrinol Metab. ; 99(6):1915-42 ; June 2014
 
Bioinformatics, Registries and Data Management
 


 
A few rules to constitute rare disease databases: The LeukoDataBase example
 
Registries and databases gathering international and long term patient data are strong tools for research on rare disorders. An article published in the European Journal of Paediatric Neurology describes the ethical considerations behind constituting the EU LeukoDataBase (LeukoDB), LeukoTreat’s ambition for a reference European database on leukodystrophies, a group of rare neurodegenerative diseases. The three year EU-funded LeukoTreat programme was launched in 2010 following the ethics board approval. The LeukoTreat Ethics Committee (LEC) provided recommendations and oversaw ethical compliance throughout the duration of the project.

Based on health professional, ethics expert and patient representative input, the LEC drew up a charter defining health professionals’ responsibility for patient data preservation, use and sharing. Based on Directive 95/46/EC regarding personal data use and protection, LeukoTreat’s ethical principles aimed to ensure equal levels of data protection for participants in all countries. In accordance with the International Declaration on Human Genetic Data, data stored in LeukoDB must remain anonymous for research purposes, whilst patients should be granted access to their personal records at all times. Regarding long term considerations, the LEC recommended issuing regular information on database evolution, research progress, results and future orientations.

One of the LEC’s concerns the authors describe is the lack of distinction between patient care and research in rare diseases. As patients fear that samples might be taken for the sole purpose of research, clear communication is crucial to inform patients of the nature and potential uses of data collected during clinical procedures. Furthermore, as leukodystrophy patients are often children and/or cognitively impaired, adapting information to age and mental ability is essential to gain informed consent. The LEC recommended that clinicians adapt templates to individual cases, simplify language and use drawings, cartoons or storyboards, where appropriate, to communicate information effectively. The authors believe the EU LeukoDB serves as a model and illustrates how involving all stakeholders when developing rare disease databases is necessary to optimise research outcomes and protect patient interests.

Consult the PubMed abstract

 
Screening and Testing
 


 
Biomarkers and the promise of personalised medicine for rare diseases
 
Neuromuscular diseases encompass a range of rare disorders caused by muscle, motor neuron, neuromuscular junction, nerve and cerebellum defects. Though these disorders share some common symptoms and biological pathways, over 300 genes are associated with neuromuscular diseases, making treatment challenging. Several genes may be involved in very distinct disorders, while similar disorders may be linked to very distinct sets of genes. In an article published in Experimental Cell Research, Scotton et al. suggest several biomarkers to diagnose and treat some of these disorders.

Biomarkers are indicators of disease characteristics and response to treatment. Different biomarkers reflect the nature and location of the disease under investigation. Genomic biomarkers measure DNA and RNA variations associated with disease susceptibility and evolution, as well as response to treatment. Microarray and next generation sequencing methods facilitate the discovery of such genetic biomarkers. Proteomic biomarkers are measured in body fluids and indicate modifications in cellular pathways. They are also useful in clinical trials to monitor response to treatment and adverse effects. ELISA immunoassays, and to a lesser extent mass spectrometry, are typically used to study protein biomarkers.

While biomarkers have proved useful to diagnose neuromuscular disorders and predict response to treatment, no biomarker has yet been discovered to monitor disease progression. Imaging techniques, such as magnetic resonance imaging (MRI), are safe and non-invasive technologies increasingly used to identify markers that might indicate disease status. For instance, MRI can be used to study the progression of Duchenne muscular dystrophy in specific muscles. The authors predict that increased use of biomarkers in the field of rare diseases will contribute to targeting and personalising orphan treatments more efficiently, resulting in therapeutic and economic gain.

Consult the PubMed abstract

 


 
Ethical, Legal & Social Issues
 

 
Not just a number: The benefits of putting patients at the heart of clinical trials
 
The authors of an article published in Value for Health regret that classical clinical trials generally do not represent patient interests and rarely inform participants of results during the study. Under such conditions, patients often lose interest and drop out of trials. Experience shows that participants’ active involvement in the design and progression of clinical trials results in greater patient retention and more meaningful results. Informed patients are more willing to engage in time-consuming and effort-requiring studies as they feel valued, empowered and capable of assessing therapeutic options.

Mullins et al. suggest methods of designing trials from a patient's point of view rather than the investigator’s. Pragmatic, Bayesian statistics and adaptive trials can improve patient safety and increase recruitment and retention. Pragmatic trials are designed to result in outcomes that are most relevant and beneficial to participants. Bayesian statistics draw on collected evidence to update knowledge on the treatment and outcome probabilities. This approach aims to produce results that are easily interpreted and reflect the reality of medical decision making. Adaptive trials also evolve on the basis of data accumulated during the trial and allow patients to be transferred to a more effective treatment if it becomes available once the trial has begun.

The three trial designs are particularly relevant for rare diseases as they are more likely to retain already limited numbers of patients whilst potentially offering them early benefits. Nevertheless, the authors highlight several limitations: pragmatic trials are designed to reflect a 'real world' situation which is difficult to quantify and qualify; Bayesian statistics are resource intensive; and adaptive trials might not offer the required evidence for regulatory approval. To truly qualify trial designs as patient-centred, Mullins et al. emphasise the primary need for sustained efforts to inform and involve patients and advocates at all stages of clinical studies.


 
Early escape crossover trials for rare diseases are better adapted to patient needs and preferences
 
A clinical research report, published in Contemporary Clinical Trials, illustrates the advantages of the above-mentioned adaptive trial design for rare diseases. Adaptive crossover trial designs, giving patients the option to opt out or 'escape' the assigned treatment, can improve outcome efficiency and statistical significance. Increasingly designed to investigate new treatments for rare diseases, crossover trials involve two or more treatments administered in a set order to each patient and for set periods throughout the study. Patient 1 will receive treatment A followed by treatment B, whilst Patient 2 will receive treatment B followed by treatment A for the same period. Crossover trials therefore minimise patient exposure to ineffective treatments and increase efficiency since patients act as their own control and response to treatment is rapidly measured.

A randomised, double blinded, placebo controlled crossover trial was designed to test a new treatment for Familial Mediterranean Fever (FMF), a rare genetic autoinflammatory disorder, characterised by recurring fever attacks. Patients received one of four treatment sequences alternating rilonacept (R) and placebo (P): RPRP, PRPR, RPPR and PRRP. Patients who experienced at least two FMF attacks during one course of treatment were allowed to escape to the other treatment arm until the end of that course. Participants then resumed the assigned treatment sequence. The investigators indicate that escape options helped reduce patient dropout from clinical trials and, contrary to Mullins et al.'s views (mentioned in the previous article), increased study efficiency and significance. Where clinical trials for rare disease treatments are challenging, typically due to small patient numbers, crossover trials with early escape options increase patient motivation, minimise adverse effects, maximise treatment benefits and improve the significance of collected data.

Consult the PubMed abstract

 


 
Orphanet News
 
Orphanet change of management
 


Odile Kremp

Odile Kremp has left her role as Director of INSERM’s Service Unit US14, in charge of Orphanet, in order to join the French Ministry of Health following two years during which she was, among other responsibilities, editor-in-chief of OrphaNews France.




Ana Rath

Ana Rath replaces Odile Kremp as interim Director of INSERM US14. Formerly Associate Director of US14 for two years, Ana Rath has been Scientific Director of Orphanet since 2009. She was previously in charge of Orphanet’s rare disease encyclopaedia and database.

OrphaNews thanks Odile Kremp for her contribution throughout these past two years and wishes Ana Rath full success in her new role.


 


 
New Syndromes
 



 
Spectrum of major eye malformations caused by monoallelic and biallelic mutations in MAB21L2
 

The authors identified four different missense mutations in MBA21L2 in eight individuals with bilateral eye malformations from five unrelated families. Phenotypes varied among individuals from bilateral anophthalmia, intellectual disability and rhizomelic skeletal dysplasia, to bilateral colobomatous microphthalmia, or bilateral colobomata.
Consult the Pubmed abstract
 
Am J Hum Genet. ; 94(6):915-23 ; June 2014
 
A congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia due to PGM3 mutations
 

The authors identified three unrelated children with recurrent infections, congenital leukopenia including neutropenia, B- and T-cell lymphopenia, and progression to bone marrow failure. A deleterious mutation in PGM3 was found in all three subjects. Two of the three children had skeletal anomalies resembling Desbuquois dysplasia (short stature, brachydactyly, dysmorphic facial features and intellectual disability), absent in the third child, showing the clinical variability of the disease.
Consult the Pubmed abstract
 
Am J Hum Genet. ; [Epub ahead of print] ; June 2014
 
Novel immunodeficiency associated with a loss-of-function homozygous mutation in CTPS1
 

The authors reported the identification of a loss-of-function homozygous mutation in CTPS1 that causes a novel and life-threatening immunodeficiency, characterized by an impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation.
Consult the Pubmed abstract
 
Nature ; 510(7504):288-92 ; June 2014
 
X-linked syndromic phenotype with intellectual disability, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis linked to a mutation in PAK3
 

The authors identified a three-generation family with affected males showing intellectual disability, agenesis of corpus callosum, cerebellar hypoplasia, microcephaly and ichthyosis associated with a mutation in PAK3.
Consult the Pubmed abstract
 
Hum Mol Genet. ; 23(13):3607-17 ; July 2014
 
Unique autosomal recessive cognitive impairment syndrome caused by mutations in ZNF407 in a consanguineous Arab family
 

The authors described a consanguineous Arab family affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral fifth finger camptodactyly, bilateral short fourth metatarsal bones, and limited knee mobility bilaterally. A damaging mutation was identified in the ZNF407 gene.
Consult the Pubmed abstract
 
Orphanet J Rare Dis. ; 9(1):80 ; June 2014
 
Lower motor neuron disease with respiratory failure due to a MAPT mutation in a large Italian kindred
 

The authors described five patients of a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the upper limbs, and evidence of lower motor neuron degeneration without frontotemporal lobar degeneration or semantic dementia. A missense change in MAPT segregating dominantly with the disease was identified.
Consult the Pubmed abstract
 
Neurology ; 82(22):1990-8 ; June 2014
 
Novel type of sialidosis due to NEU1 mutations
 

The authors detected NEU1 mutations in three siblings from two families with a novel type of sialidosis characterized by a prominent cortical myoclonus presenting in the third decade of life with a mild and slowly progressive course. They did not have macular cherry-red spot and their urinary sialic acid excretion was within normal values.
Consult the Pubmed abstract
 
Neurology ; 82(22):2003-6 ; June 2014
 
Novel type of myopathy associated to CLN3 mutation
 

Two brothers presented with visual failure, seizures, and prominent cardiac involvement, but only mild cognitive impairment and no motor deterioration after 40 years of disease duration. Muscle biopsy revealed the presence of widespread alterations suggestive of a novel type of autophagic vacuolar myopathy. A mutation in CLN3 was identified and linked to the disease.
Consult the Pubmed abstract
 
Neurology ; 82(23):2072-6 ; June 2014
 
Novel (ovario) leukodystrophy related to AARS2 mutations in 6 unrelated patients
 

Six unrelated patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deteriorations consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. Magnetic resonance imaging showed a leukoencephalopathy with striking involvement of left-right connections, descending tracts, and cerebellar atrophy. All female patients had ovarian failure. None of the patients had signs of a cardiomyopathy.
Consult the Pubmed abstract
 
Neurology ; 82(23):2063-71 ; June 2014
 
Severe atopy and connective tissue abnormalities associated with mendelian inheritance of elevated serum tryptase
 

The authors described 9 patients with unique, inherited allergic phenotypes characterized by persistent increases in serum basal tryptase levels in the absence of evidence for a clonal mast cell disorder. Increased basal serum tryptase levels were found to segregate with distinct clinical features, and multiple family members shared elements of this phenotype.
Consult the Pubmed abstract
 
J Allergy Clin Immunol. ; 133(5):1471-4 ; May 2014
 


 
New Genes
 



 
Autosomal recessive hyper-IgE syndrome: mutations in PGM3 impair immunity and neurocognition, and increase serum IgE levels
 
Consult the Pubmed abstracts
 
To read more about "Autosomal recessive hyper-IgE syndrome"

 
J Allergy Clin Immunol. ; 133(5):1400-9, 1409.e1-5 ; May 2014
J Allergy Clin Immunol. ; 133(5):1410-9, 1419.e1-13 ; May 2014
 
METTL23, is essential for human cognition as it can cause mild autosomal recessive intellectual disability
 
Consult the Pubmed abstracts
 
Hum Mol Genet. ; 23(13):3456-66 ; July 2014
Hum Mol Genet. ; [Epub ahead of print] ; April 2014
 
Joubert syndrome with orofaciodigital defect is caused by C5orf42 mutations
 
Consult the Pubmed abstract
 
To read more about "Joubert syndrome with orofaciodigital defect"

 
Hum Genet. ; 133(3):367-77 ; March 2014
 
Progressive supranuclear palsy-like phenotypes linked to a DCTN1 mutation in a family with high clinical phenotype variability
 
Consult the Pubmed abstract
 
To read more about "Progressive supranuclear palsy"

 
JAMA Neurol. ; 71(2):208-15 ; February 2014
 
Autosomal dominant spinocerebellar ataxia and erythrokeratodermia associated with ELOVL4 mutations in a large French-Canadian family
 
Consult the Pubmed abstract
 
To read more about "Spinocerebellar ataxia type 34"

 
JAMA Neurol. ; 71(4):470-5 ; April 2014
 
Autosomal dominant and recessive severe congenital neutropenia caused by CSF3R and TCIRG1 mutations
 
Consult the Pubmed abstracts
 
To read more about "Severe congenital neutropenia"

 
Blood ; 123(24):3811-7 ; June 2014
Hum Mutat. ; 35(7):824-7 ; July 2014
 
Autosomal dominant non-syndromic sensorineural deafness type DFNA is linked to a dominant mutation in TBC1D24
 
Consult the Pubmed abstracts
 
To read more about "Autosomal dominant non-syndromic sensorineural deafness type DFNA"

 
Hum Mutat. ; 35(7):814-8 ; July 2014
Hum Mutat. ; 35(7):819-23 ; July 2014
 
Syndactyly type 1-c is caused by HOXD13 mutations in two Chinese families
 
Consult the Pubmed abstract
 
To read more about "Zygodactyly type 3"
To read more about "Syndactyly type 1"

 
PLoS One ; 9(5):e96192 ; May 2014
 
Autosomal recessive early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by a homozygous mutation in IL-21
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive early-onset inflammatory bowel disease"

 
J Allergy Clin Immunol. ; 133(6):1651-1659.e12 ; June 2014
 
Pancreatic adenosquamous carcinoma: the UPF1 RNA surveillance gene is commonly mutated
 
Consult the Pubmed abstract
 
Nat Med. ; 20(6):596-8 ; June 2014
 
A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada disease but not for ankylosing spondylitis
 
Consult the Pubmed abstract
 
To read more about "Vogt-Koyanagi-Harada disease"

 
PLoS One ; 9(5):e96943 ; May 2014
 
Sporadic amyotrophic lateral sclerosis: TREM2 variant as a risk factor
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
JAMA Neurol. ; 71(4):449-53 ; April 2014
 


 
Research in Action
 



 
Clinical Research
 
Amyotrophic lateral sclerosis: hypercaloric enteral nutrition is safe and tolerable
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Lancet ; 383(9934):2065-72 ; June 2014
 
Progressive supranuclear palsy: davunetide is not an effective treatment
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Progressive supranuclear palsy"

 
Lancet Neurol. ; 13(7):676-85 ; July 2014
 
Mucopolysaccharidosis type 2: idursulfase safety, tolerability, and efficacy in patients ≤ 5 years were similar to patients ≥ 5 years
 
Consult the Pubmed abstract
Consult this study on Orphanet

 
To read more about "Mucopolysaccharidosis type 2"

 
Genet Med. ; 16(6):435-41 ; June 2014
 
Homocystinuria due to methylene tetrahydrofolate reductase deficiency: early betaine treatment prevents mortality and allows normal psychomotor development
 
Consult the Pubmed abstract
 
To read more about "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"

 
JAMA Neurol. ; 71(2):188-94 ; February 2014
 
Congenital myasthenic syndrome with DOK7 deficiency: review on pharmacologic treatment
 
Consult the Pubmed abstract
 
To read more about "Congenital myasthenic syndrome"

 
JAMA Neurol. ; 71(3):350-4 ; March 2014
 
Recurrent or progressive low-grade astrocytomas: sorafenib produced acceleration of tumor growth in children
 
Consult the Pubmed abstract
 
To read more about "Low-grade astrocytoma"
To read more about "Astrocytoma"

 
Neuro Oncol. ; [Epub ahead of print] ; May 2014
 
Myeloid neoplasm associated with PDGFRB rearrangement: imatinib is well-tolerated and achieves durable remissions
 
Consult the Pubmed abstract
 
To read more about "Myeloid neoplasm associated with PDGFRB rearrangement"

 
Blood ; 123(23):3574-7 ; June 2014
 
Granulomatosis with polyangiitis: abatacept was well tolerated and was associated with a high frequency of disease remission and prednisone discontinuation
 
Consult the Pubmed abstract
 
To read more about "Granulomatosis with polyangiitis"

 
Ann Rheum Dis. ; 73(7):1376-9 ; July 2014
 
Duchenne muscular dystrophy: PDE5 inhibition with tadalafil or sildenafil alleviates functional muscle ischemia in boys
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Neurology ; 82(23):2085-91 ; May 2014
 
Stem Cells
 

 
Gene Therapy
 
New avenues for treating SCID-X1 and hematopoietic stem cells diseases targeting a corrective complementary DNA into IL2RG gene
 
Consult the Pubmed abstract
 
To read more about "T-B+ severe combined immunodeficiency due to gamma chain deficiency"

 
Nature ; 510(7504):235-40 ; June 2014
 
T-B+ SCID due to gamma chain deficiency: intravenous injection of a foamy virus carrying a corrective gene facilitates immune cell development in a canine model
 
Consult the Pubmed abstract
 
To read more about "T-B+ severe combined immunodeficiency due to gamma chain deficiency"

 
Blood ; 123(23):3578-84 ; June 2014
 
Therapeutic Approaches
 

 
Hutchinson-Gilford progeria syndrome: chemical inhibition of NAT10 corrects defects of laminopathic cells
 
Consult the Pubmed abstract
 
To read more about "Hutchinson-Gilford progeria syndrome"

 
Science ; 344(6183):527-32 ; May 2014
 
Osteogenesis imperfecta: anti-TGF-β treatment using the neutralizing antibody 1D11 corrects the bone phenotype in recessive and dominant mouse models
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"

 
Nat Med. ; 20(6):670-5 ; June 2014
 
Kennedy disease: paeoniflorin, a major component of Paeonia plants, mitigated the behavioral and pathological impairments in mouse model
 
Consult the Pubmed abstract
 
To read more about "Kennedy disease"

 
Hum Mol Genet. ; 23(13):3552-65 ; July 2014
 
Narcolepsy-cataplexy: R-baclofen, a GABAB agonist, suppressed cataplexy to a greater extent than GHB in two mouse models
 
Consult the Pubmed abstract
 
To read more about "Narcolepsy-cataplexy"

 
J Neurosci. ; 34(19):6485-94 ; May 2014
 
Kabuki syndrome: both KMT2D and KDM6A nonsense mutations displayed high levels of read-through in response to gentamicin treatment
 
Consult the Pubmed abstract
 
To read more about "Kabuki syndrome"

 
Hum Mutat. ; 35(7):841-50 ; July 2014
 
Diagnostic Approaches
 

 
Severe combined immunodeficiency disease and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium attempts to develop a set of diagnostic criteria
 
Consult the Pubmed abstract
 
To read more about "Severe combined immunodeficiency"
To read more about "Omenn syndrome"

 
J Allergy Clin Immunol. ; 133(4):1092-8 ; April 2014
 
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: massively parallel sequencing on plasma from pregnant mothers could potentially provide diagnosis
 
Consult the Pubmed abstract
 
To read more about "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"

 
J Clin Endocrinol Metab. ; 99(6):E1022-30 ; June 2014
 
Foetal chromosomal disorders: non-invasive prenatal testing using foetal DNA in maternal plasma can also be built around DNA fragment size
 
Consult the Pubmed abstract
 
To read more about "Down syndrome"
To read more about "Trisomy 18"
To read more about "Trisomy 13"
To read more about "Monosomy X"

 
Proc Natl Acad Sci U S A. ; 111(23):8583-8 ; June 2014
 
Complement biomarkers C5a and C5b-9 can confirm the diagnosis of atypical haemolytic uremic syndrome and differentiate it from thrombotic thrombocytopenic purpura
 
Consult the Pubmed abstract
 
To read more about "Atypical hemolytic-uremic syndrome"
To read more about "Thrombotic thrombocytopenic purpura"

 
Blood ; 123(24):3733-8 ; June 2014
 
Creutzfeldt-Jakob disease: the combination of increased T-tau levels and increased T-tau to P-tau ratios may serve as a clinically useful diagnostic test
 
Consult the Pubmed abstract
 
To read more about "Creutzfeldt-Jakob disease"

 
JAMA Neurol. ; 71(4):476-83 ; April 2014
 
Beckwith-Wiedemann syndrome: scoring system predicting for methylation abnormalities will facilitate selection of patients with suspected disease for routine diagnostic testing
 
Consult the Pubmed abstract
 
To read more about "Beckwith-Wiedemann syndrome"

 
Eur J Hum Genet. ; 16(5):565-71 ; May 2008
 
Giant cell arteritis: fluorodeoxyglucose uptake by large vessels has a substantial sensitivity and specificity for diagnosis
 
Consult the Pubmed abstract
 
To read more about "Giant cell arteritis"

 
Ann Rheum Dis. ; 73(7):1388-92 ; July 2014
 


 
Patient Management and Therapy
 
Systemic sclerosis: the DETECT algorithm for pulmonary arterial hypertension detection is a sensitive, non-invasive tool which minimises missed diagnoses
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Ann Rheum Dis. ; 73(7):1340-9 ; July 2014
 
Women with glycogen storage disease due to acid maltase deficiency do not appear to have an increased risk of pregnancy or delivery complication
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Mol Genet Metab. ; 112(2):148-53 ; June 2014
 
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients
 
Consult the Pubmed abstract
 
Eur J Endocrinol. ; 170(5):677-84 ; April 2014
 
Retinitis pigmentosa: Argus II retinal prosthesis is a cost-effective intervention compared to usual care
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
BMC Ophthalmol. ; 14:49 ; April 2014
 
Cystic fibrosis: review on new pharmacological approaches
 
Consult the Pubmed abstract
 
To read more about "Cystic fibrosis"

 
Pharmacol Ther. ; [Epub ahead of print] ; June 2014
 
Precocious puberty in girls: review on pros and cons of gonadotropin-releasing hormone agonists treatment
 
Consult the Pubmed abstract
 
To read more about "Precocious puberty"

 
Nat Rev Endocrinol. ; 10(6):352-63 ; June 2014
 
Combined T and B cell immunodeficiency: review on gene therapy
 
Consult the abstract
 
To read more about "Combined T and B cell immunodeficiency"

 
Expert Opinion on Orphan Drugs ; 14(6):789-798 ; June 2014
 
Two articles on recommendations, risks and policies on vaccination in immunodeficient patients
 
Consult the Pubmed abstracts
 
To read more about "Primary immunodeficiency"
To read more about "Common variable immunodeficiency"
To read more about "Severe combined immunodeficiency"

 
J Allergy Clin Immunol. ; 133(4):961-6 ; April 2014
J Allergy Clin Immunol. ; 133(4):1134-41 ; April 2014
 
Primary Immunodeficiency Treatment Consortium workshop report
 
Consult the Pubmed abstract
 
To read more about "Primary immunodeficiency"

 
J Allergy Clin Immunol. ; 133(2):335-47 ; February 2014
 
Imperative for Duchenne muscular dystrophy: a guide for providers available in 11 languages
 
Consult the guide in English
Or download it in any of the other ten languages available

 
To read more about "Duchenne muscular dystrophy"

 
TREAT-NMD Neuromuscular Network
 
Phenylketonuria: review on the state of the science and future research needs
 
Consult the Pubmed abstract
 
To read more about "Phenylketonuria"

 
Mol Genet Metab. ; 112(2):87-122 ; June 2014
 
Neurofibromatosis type 2: review on systematic therapy
 
Consult the Pubmed abstract
 
To read more about "Neurofibromatosis type 2"

 
Cancer Treat Rev. ; 40(7):857-861 ; August 2014
 
Malformations of cortical development: review on clinical features and genetic causes
 
Consult the Pubmed abstract
 
To read more about "Lissencephaly"
To read more about "Polymicrogyria"
To read more about "Periventricular nodular heterotopia"
To read more about "Subcortical band heterotopia"

 
Lancet Neurol. ; 13(7):710-726 ; July 2014
 
Review on occasional seizures, epilepsy and inborn errors of metabolism
 
Consult the Pubmed abstract
 
Lancet Neurol. ; 13(7):727-739 ; July 2014
 
Baló concentric sclerosis: a review
 
Consult the Pubmed abstract
 
To read more about "Baló concentric sclerosis"

 
Lancet Neurol. ; 13(7):740-746 ; July 2014
 
Sphingolipid lysosomal storage disorders: a review
 
Consult the Pubmed abstract
 
Nature ; 510(7503):68-75 ; June 2014
 
Systemic lupus erythematosus: review on the diagnosis and management of neurological and psychiatric features
 
Consult the Pubmed abstract
 
To read more about "Systemic lupus erythematosus"

 
Nat Rev Rheumatol. ; 10(6):338-47 ; June 2014
 
IgG4-related hypertrophic pachymeningitis: review on clinical features, diagnostic criteria, and treatment
 
Consult the Pubmed abstract
 
JAMA Neurol. ; 71(6):785-93 ; June 2014
 
Idiopathic pulmonary fibrosis: review on current approaches to the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Idiopathic pulmonary fibrosis"

 
Eur Respir Rev. ; 23(132):225-230 ; June 2014
 
One new Clinical Utility Gene Card published in the European Journal of Human Genetics
 

EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
The European Journal of Human Genetics has published one new Clinical Utility Gene Card for:
Angelman syndrome

 
1 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. 1 new GeneReviews has been published for:
APOE p.Leu167del-Related Lipid Disorders

8 GeneReviews have been updated for:
Esophageal atresia/Tracheoesophageal fistula
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum
Marfan syndrome
Nonsyndromic Hearing Loss and Deafness, DFNA3
Spinocerebellar Ataxia Type 15
Hemophilia A
Hemophilia B
Hereditary Folate Malabsorption


 


 
Orphan Drugs
 



 
Call for cheaper drugs: The heavy burden of enzyme replacement therapy for Gaucher disease
 
Treatment for Gaucher disease type 1 (GD 1), a chronic non-neurological form of the rare lysosomal storage disorder Gaucher disease (GD), costs between €124,000 and €258,000 per patient per year. Van Dussen et al. analyse the cost-effectiveness of GD 1 enzyme replacement therapy (ERT) in an article published in Orphan Journal of Rare Diseases. GD 1 is characterised by organomegaly (enlarged organs), bone complications, cytopenia (reduced blood cell count) and pulmonary hypertension. Administered intravenously, ERT demonstrates strong efficacy in reversing or reducing most of the symptoms. Three recombinant enzymes are available to treat GD 1: Cerezyme® (imiglucerase) developed by Genzyme; VPRIV® (velaglucerase alfa) by Shire Human Genetic Therapies; and Elelyso™ (taliglucerase alfa) by Protalix Biotherapeutics.

ERT reimbursement causes ongoing debate and continues to prompt health economists to analyse the impact of expensive orphan drugs on healthcare budgets. The authors calculated that standard care would amount to €171,780 over a patient’s treated lifetime, whereas extra lifetime ERT treatment could reach €5,716,473. Though van Dussen et al. deplore the high cost of ERT and call for lower and negotiable prices, they maintain that ERT’s proven safety and efficacy have contributed to society’s willingness to pay for expensive orphan products. They suggest that the example of ERT could serve as a reference for other orphan drug reimbursement policies. The authors argue, however, that further data on disease evolution must be collected into registries in order to conduct relevant cost-effectiveness studies.


 
Cystic Fibrosis: One disorder, many mutations and some promising therapies
 
Cystic fibrosis (CF) is caused by one or several of 2,000 identified mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, causing defective CFTR proteins and chloride channel disruption. CFTR proteins are essential in regulating salt and water transport in and out of cells in organs such as sweat glands, lungs, pancreas, intestine and liver. CF diagnosis is based, therefore, on sweat test results and confirmed by identifying CFTR mutations. In an article published in The International Journal of Biochemistry & Cell Biology, Ikpa et al. describe advances in personalised, or tailored, CF therapies through diagnostic progress and development of CFTR-targeted treatments addressing the underlying causes of CF.

Though most treatments still address the symptoms of CF only, progress in screening technologies has allowed the rapid detection of CFTR mutations and enabled the emergence of genetic therapies to restore or improve CFTR function based on these mutations. Gene editing and protein repair techniques, or modulators, show potential for targeted therapies in ongoing clinical trials, but have yet to translate into clinical benefits. Compounds such as protein correctors increase delivery of functional CFTR protein to the cell surface, while CFTR protein potentiators improve CFTR protein function to allow ion traffic across cell membranes.

One promising experimental protein potentiator, lumacaftor (VX-809), targets the most common CFTR mutation, delta F508, and demonstrates channel activity improvement. FDA-approved Kalydeco™ (ivacaftor, VX-770) oral treatment is the first drug that targets the G551D mutation to repair channel gating and restore lung function. Advances in stem cell research also offer promises of personalised treatment through cell expansion derived from tissue and blood samples. Testing novel compounds on cultured CF patient cells will allow investigators to assess individual patient response to potential treatments. The authors further evoke the promises of regenerative medicine, through tissue transplantation.

Consult the PubMed abstract



 
The orphan drug price monopoly rages on: Cystic fibrosis drug Kalydeco™ is unaffordable
 
Access to rare disease drugs comes at a price. Balfour-Lynn describes the example of personalised treatment for cystic fibrosis (CF) in an article published in Paediatric Respiratory Reviews. Based on the UK’s CF Registry 2012 Annual Report, the author calculated that 370 patients in the UK are eligible for treatment with Kalydeco™ (ivacaftor), for ion channel function repair in CF patients affected by the G551D CFTR gene mutation, as mentioned in the previous article. At £182,000 (€228,000) per patient per year, the total cost of treatment for UK patients would reach £67 (€84) million a year, based on the British National Formulary price list. If the treatment is extended to patients under the current six year age limit, the number of eligible patients in the UK would rise to 470, costing £76 (€95) million. With the UK’s CF budget of £130 (€163) million a year to cover some 10,000 CF patients, the drug remains unaffordable for healthcare services. In the US, the price of Kalydeco™ started at US$294,000 per year, rising by US$17,000 (€12,500) each year, resulting in an additional US$17 (€12.5) million a year to cover all 1,000 patients receiving the drug in the US.

Such prices illustrate how unaffordable these targeted drugs are for most countries. In Australia, where Kalydeco™ was registered in July 2013, the Pharmaceutical Benefits Advisory Committee called for a price reduction if the drug’s cost-effectiveness was to be acceptable. The author regrets that such breakthrough therapies for rare diseases come at such a high cost and questions the rationale behind these prices. The Journal of the American Medical Association suggests that “drugs are often priced at what the market will pay”. Balfour-Lynn reminds us that US charity Cystic Fibrosis Foundation contributed US$75 (€55) million and their Therapeutic Development Network to the manufacturer to develop ivacaftor. The author fears that until personalised treatment becomes affordable to health services, high quality medical care will remain unattainable for many rare disease patients.

Consult the PubMed abstract


 
Companies, know your market! The orphan drug sector is not a level playing field
 
A report from consulting firm L.E.K. proposes a business strategy view of the orphan drug industry and offers advice to pharmaceutical companies attempting to enter the marketplace. Estimated to be worth over US$80 billion in 2009 and expected to reach over US$100 billion in 2014, the market for orphan drugs is rapidly outpacing other areas of the health industry. This strong growth is a result of regulatory incentives (fast track registration, user fee waivers, accepted small patient pools for clinical trials and 7-year market exclusivity), high drug prices for long term therapies and, until recently, low competition among the limited number of actors. This paper suggests these trends are reversing and newcomers will face increasing challenges to penetrate the orphan drug market.

For a start, orphan drugs do not guarantee high revenues. The paper estimates that the average orphan drug revenue is around $250 million, far from the $1 billion plus yearly revenues some blockbuster drugs achieve. Nonetheless, a number of big pharma companies are seeking to pierce the orphan drug market in order to diversify their waning portfolio. Whether they invest in setting up their own rare disease research units or acquire them from smaller biotech firms, L.E.K. advises pharmaceutical companies to address a range of unmet and related medical needs in order to gain a competitive edge and long term market sustainability. The paper further highlights the essential role of patient associations, foundations, payers and clinicians in orphan drug success. As regulatory requirements become tougher, orphan drug manufacturers must engage with all stakeholders to fully understand the typically complex rare diseases under investigation. The paper insists that manufacturers must actively respond to patient needs and expectations, cooperate with regulators and negotiate with payers if they hope to earn their place in the field of rare diseases.




 
Megafunds to finance orphan drug discovery
 
In the face of pharmaceutical industry productivity decline over the past several years, the authors of an article published in Drug Discovery Today propose a novel method of financing drug discovery. Fagnan et al. introduce the concept of ‘megafunds’ to attract investments into risky orphan drug research and development projects. A megafund would raise funds by issuing ‘research-backed obligations’ (RBOs), i.e. bonds on potential revenues from future sales of orphan drugs and intellectual property. Instead of relying on venture capitalists and other investment funds, megafunds could attract capital into orphan drug portfolios from a much larger investor base, usually unable to invest in early-stage drug discovery.

Based on their simulations and the assumption of high success rates, the authors suggest that megafund portfolios containing ten to twenty investigational compounds could deliver potentially, albeit uncertain, high returns on investment. While Fagnan et al. admit their simulations are only indicative of megafund potential, they maintain that novel financing models, such as RBOs to constitute megafunds, should be developed to address growing drug discovery challenges. By pooling and diversifying resources, the authors believe that megafunds spread their risk and offer greater financial flexibility whilst ensuring more efficiency and lower drug development costs.

 
Regulatory News
 
Italy will reimburse Avastin® off-label use
 
The debate concerning off-label indication of Roche’s orphan drug Avastin® has re-emerged with Italy’s announcement in June that the health ministry will cover the full cost of Avastin® for off-label treatment of age-related macular degeneration (AMD). Avastin® is approved for treatment of colorectal, breast, and lung cancers, but has demonstrated efficacy in treating AMD. Avastin® is in fact more widely used than Novartis’ approved AMD drug Lucentis® and is around thirty times cheaper.

While this move could appeal to other European countries in efforts to reduce health expenditure, Novartis, Roche and the European Federation of Pharmaceutical Industries and Associations (EFPIA) strongly oppose Italy’s decision. They argue that the decision goes against European law and patient safety. Novartis nevertheless urges the Italian ministry of health to implement clear protocols for off label use of Avastin® and conduct pharmaco-vigilence studies.

Bloomberg news release

 


 
FDA approves Alprolix™ haemophilia B therapy
 
The FDA approved Biogen Idec’s Alprolix™, end of March, to reduce bleeding episodes with prophylactic infusions in haemophilia B patients. Alprolix™ Coagulation Factor IX (Recombinant) Fc Fusion Protein is the first DNA derived treatment to demonstrate improved and prolonged clotting in adults and children. The treatment is indicated to control and prevent bleeding episodes and for use during surgical interventions.

FDA news release
Biogen Idec press release

 
FDA approves Eloctate™ haemophilia A therapy
 
On 6th June, the FDA approved Biogen Idec’s Eloctate™ to treat children and adults with haemophilia A. Eloctate™ Coagulation Factor VIII (Recombinant) Fc fusion protein is the first treatment to reduce or prevent bleeding episodes for longer periods of time while requiring fewer injections. The treatment is indicated to control and prevent bleeding episodes and for use during surgical interventions.

FDA news release
Biogen Idec news release

 



 
16 positive opinions recommending orphan designation at the June 2014 COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 16 positive opinions issued at the June 2014 COMP meeting for the:

- treatment of AL amyloidosis (two treatments)
- treatment of plasma cell myeloma
- treatment for necrotising soft tissue infections
- treatment of catecholaminergic polymorphic ventricular tachycardia
- treatment of ovarian cancer
- treatment of Huntington’s disease
- treatment of myasthenia gravis
- treatment of idiopathic pulmonary fibrosis
- treatment of glioma
- treatment of Prader-Willi syndrome
- treatment of beta thalassaemia intermedia and major
- treatment of gastric cancer
- treatment of systemic sclerosis
- treatment of haemophilia B
- treatment of haemophilia A

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


 


 
Grants
 


 
Care-for-Rare Science Award 2014
 
The Care-for-Rare Foundation at the Dr. von Haunerschen Children’s Hospital of the Ludwig-Maximilian University Munich is launching, for the second time, the Care-for-Rare Science Award 2014. The Care-for-Rare Research Award 2014 is endowed with €50,000 and should give young scientists the chance to initiate a basic or clinical research project in the field of rare diseases.
Application deadline: 15 August, 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 (half- to one-page abstract with specific 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.
    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

     


     
    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?
     

     
    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: 5-10 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.
    Booking form and agenda now available online.

     
    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

     
    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 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

     
    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.
    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.
    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

     
    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

     
    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

     


     
    Media, Press & Publications
     
    Rare Genomic Institute’s free 150-page e-book on Rare Diseases - Diagnosis, Therapies and Hope
     



    This rare diseases e-Book focuses on all rare disease audiences and includes:

    - Ten case studies of rare disease discoveries;
    - Interviews with physicians, researchers and genomics experts;
    - A rare disease Parent Toolkit;
    - Information on latest research into rare diseases.

    Download the e-book here

     


     
    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
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    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Helena Kaariainen, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

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