16 April 2014 print
Spotlight on...
EU Policy News
Nat Pol News
ELS News
EU Project
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Partnersearch, Job Opps
Courses & Education
What's on?
Subscribe / Unsubscribe
Search the Orphanews archives :


EMA publishes its work programme for 2014: potential for rare diseases

The European Medicines Agency has published its annual work programme for 2014 which shows great potential for developers of orphan medicinal products and the rare disease community.

The Agency has identified key objectives in the area of evaluating activities for human medicines 2014, all of which should help in bringing more orphan medicinal products into the market. The Agency will aim to increase the success rate for marketing-authorisation applications through a more active use of scientific advice and other pre-application support to encourage the development of new medicines, especially in areas of unmet need, such as orphan medicinal products. The Agency will also work towards facilitating the use and development of emerging technologies and approaches in developing new medicinal products in addition to improving international cooperation in pre-authorisation support, especially in the area of scientific-advice. This was also reflected in their recent workshop on worldwide orphan medicinal designation
Broadly, the Agency aims to offer support for innovative methodologies, such as biomarker qualification, as well as for the development of new approaches and medicines, such as stem-cell technology. In addition to providing advice to sponsors applying for orphan medicines, paediatric medicines, advanced therapies, the Agency also envisions providing greater support to the HTA throughout the “lifecycle of the medicinal product”. The Agency will also work towards further facilitating the early stages of medicines development, implementing the clinical trials legislation, enhance cooperation within the European medicines network and with other European and international partners with increased transparency as one of their key focus. These goals and objectives outlined in EMA work programme for 2014 will prove to be greatly beneficial in faster access of OMP’s to patients.
Read the EMA Work Programme 2014

Spotlight on...
Pre-Conference Tutorials: ECRD highlight not to be missed
The 7th edition of the biennial European Conference on Rare Diseases & Orphan Products on 8-10 May 2014 has announced a packed programme with a wide variety of interesting topics. This conference, organised by the European Organisation for Rare Diseases (EURORDIS) and DIA Europe, is the only event dedicated to providing the state-of-the-art of activities in the field of rare diseases, in areas as far ranging as research, medical and social care, and access to orphan drugs. It provides a unique forum for the rare disease community, bringing together actors from across all diseases and stakeholder groups in Europe and beyond and providing a perfect opportunity to exchange knowledge and experience.

A highlight of the ECRD will be the Pre-conference tutorials which will take place on Thursday 8 May, 2014 from 14:30-17:00. These tutorials include discussions on topics that are current and relevant for all the stakeholders that plan to attend this conference. The first tutorial aptly named HEALTH TECHNOLOGY ASSESSMENT 101 FOR RARE DISEASES will introduce the participants to the principles of health technology assessment, describe the methods of economic evaluation, illustrate the unique circumstances surrounding rare disease evidence, provide an overview of the different approaches for assessing rare disease drugs across countries and discuss other factors which may contribute to funding decisions.
For further information on HTA

RD-CONNECT: AN INTEGRATED PLATFORM CONNECTING DATABASES, REGISTRIES, BIOBANKS AND CLINICAL BIOINFORMATICS FOR RARE DISEASE RESEARCH is the second tutorial which also promises to be extremely useful to the attendees. It will provide information on the RD-CONNECT platform and will guide clinicians, researchers, patient advocacy groups and industry on how this platform can be utilised to obtain the best results. The tutorial aims to provide information on how to set up and manage a registry or a biobank for a disease, study rare disease biospecimes. It will also provide information on how RD-Connect can be exploited to plan a rare disease trial as well as to analyse exomes for diagnostics and discovery.
For further information on RD-CONNECT

The third tutorial titled SUPPORTING THE PATHWAY TO TRIALS FOR RARE DISEASES: CLINICAL TRIAL DESIGN AND OTHER CONSIDERATIONS divided into two parts will provide information on clinical trial management for orphan drugs. The first part will endeavour to impart knowledge on the design and analysis challenges faced during clinical trials of orphan drugs due to the small recruitment numbers as well as provide examples of appropriate trial design and analysis for these groups with the help of Integrated DEsign and AnaLysis of clinical trials (IDeAL project). During the second part, TACT, the TREAT-NMD Advisory Committee for Therapeutics will share their illuminating experience and provide advise on drug development on the drug development pathway for neuromuscular diseases.
For further information on the IDeAL project
For further information on TACT

Last but not the least, A HIDDEN TREASURE TROVE: HOW TO GET THE BEST OUT OF ORPHANET DATA will provide in-depth knowledge on the ORPHANET website; the broad range of data it offers and how the information on ORPHANET can best be utilised to benefit your purposes be it in advocacy, public health, research, developmental strategy, to name a few. Information on how a successful partnership/collaboration with ORPHANET will also be imparted.
Go to the ORPHANET website

These pre-conference tutorials will indeed prove to be vital to prepare you for what will be a stimulating and exciting conference.
Further information on the EURORDIS website

EU Policy News
Biomarkers to define orphan medicines designation an EMA perspective
An article published in Orphanet Journal of Rare Disease describes the use of biomarkers when assessing Orphan Medicinal Product (OMP) by the Committee of Orphan Medicinal Products (COMP) of the European Medicines Agency (EMA). Biomarkers have been used widely by sponsors when submitting their application in order to define an orphan condition and to justify that the criteria for orphan designation are met for the medicinal product being developed by them. This has to be justified during both the stages OMP designation evaluation - at the time of orphan designation application and when the product is deemed a plausible therapy for that condition. The authors explain that the role of COMP in assessing the use of bio- markers by sponsors of candidate orphan products is divided into three main areas namely, “to define the distinct medical condition or a valid sub-set for the designation to justify the intention to diagnose, prevent or treat a condition with a product, to determine significant benefit. This authors of this article belong to COMP and discuss specific examples derived their experience at the COMP, where biomarkers have played a decisive role in assessing whether the candidate orphan medicines have provided a “plausible link to the condition” and the “exclusion of effects outside the subset”. This informative article as it utilises the presentations and discussion of past submissions to the COMP where biomarkers were used by sponsors in their request for an Orphan Medicinal Product Designation Reflection on when and how the biomarkers are exploited by COMP to weigh up OMPs.
Read the open access article


National & International Policy Developments
Other European news
International Workshop on European Reference Networks: Recommendations and Criteria in the Neuromuscular field

Proceedings of the 200th ENMC workshop has been recently published in Neuromuscular Disorders. The workshop hosted a group of 18 participants including neuromuscular clinicians, scientists, and patients’ representatives. Representatives of pilot European Reference Networks (ERNs) in the field of rare anaemias and metabolic diseases, as well as industry, were also present. They represented different groups and centres from Belgium, France, Germany, Hungary, Italy, the Netherlands, Spain, Sweden, and the United Kingdom.

The aims of this workshop were the exchange of knowledge and expertise in processes for the delivery of neuromuscular care, the assessment of existing resources both national and international, the identification of gaps which need to be addressed, and to decide on a guideline document for the implementation of ERN/ERNs in the neuromuscular field. This workshop was structured in order to provide the participants with background information about EU policies regarding rare diseases, followed by an overview of existing national and international initiatives in the neuromuscular field, the experience of pilot ERNs in other fields of expertise and the role of learned societies in the context of an ERN. The last session was devoted to the discussion of the different aspects regarding the implementation of an ERN in the neuromuscular field.
Consult the Pubmed abstract

Other International News
126 million slated for paediatric cancer research in United States
The National Institutes of Health (NIH) is slated to get $USD 126 million over 10 years for paediatric cancer research. This bill has been confirmed by the congress and the senate and is waiting for approval from the White House. The bill named after a brain tumour patient, who lobbied extensively for the passing of this bill before her demise - the Gabriella Miller Kids First Research Act - shifts money from public financing of conventions into a special pot within the Common Fund at NIH that can be used only for paediatric research. The $3 checkoff appears on U.S. tax forms and was created as a way to offset the influence of special interests in presidential elections.
Read the article in Sciencemag

Patient Protection and Affordable Care Act in the United States helps out survivors of paediatric cancer
An article published in Journal of Clinical Oncology reports on the benefits that the Patient Protection and Affordable Care Act (ACA) enacted in 2010 will bring for patients who have suffered from childhood cancer in the US. The act will prove to be a blessing for these survivors as the incidence of childhood cancer have increased significantly from 1975 to 2006, with a concomitant increase in the number of survivors (pegged at more than 320,000 individuals in the US). The authors have described the situation of these individuals as grim as they have not only have faced the difficult experience of developing cancer during the formative years, they are bound to face more health challenges during their lifetimes. So far, in the US, difficulty acquiring health insurance is a common problem for adult survivors of childhood cancer due to insurers denying insurance to individuals with pre-existing conditions.

In this article the authors have explained how the advent of ACA has brought renewed hope for paediatric cancer survivors where they can no longer be refused coverage nor will their coverage be cancelled as a result of pre-existing medical conditions. Furthermore, these adults may remain on their parents’ private health insurance plans up-to the age of 26 years and finally “states can choose to raise the minimum eligibility requirements for Medicaid to 133%of the federal poverty level, with this coverage expansion financed in full by the federal government for the first 3 years”. Although enacting ACA brings many optimistic changes, the authors caution that its a long road before these survivors are adequately served by the US government. The problems revealed by the authors include ACAs provision limited to essential health services only. Therefore, childhood cancer survivors will likely face difficulty having screenings related to cancer care follow-up, which is not considered essential according to ACA, to be covered without experiencing financial burdens.

The authors ask the clinicians to be “mindful of potential plan benefit limitations and advocate for their patients to be reimbursed for procedures performed according to COG screening guidelines” and impress upon the readers the importance of future studies of childhood cancer survivors to gain a better understanding of the impact of the ACA.
Read the open access article

Guidance Documents and Recommendations
Genetic deafness: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis
Consult the Pubmed abstract
To read more about "Nonsyndromic genetic deafness"
To read more about "Syndromic genetic deafness"

Genet Med. ; [Epub ahead of print] ; March 2014
Aggressive B-cell non-Hodgkin lymphoma: National Institute for Health and Care Excellence guidance for pixantrone monotherapy
Consult the abstract
To read more about "Aggressive B-cell non-Hodgkin lymphoma"

Mol Genet Metab. ; 111(1):16-25 ; January 2014
Bioinformatics, Registries and Data Management
Establishment of a vasculitis registry in Poland
Vasculitides are a heterogeneous group of diseases with unknown etiology and the clinical spectrum ranging from life-threatening systemic involvement to a minor isolated skin changes. An article published in Polish Archives of Internal Medicine has described the setting up of a vasculitis registry in Poland by the II Department of Internal Medicine of the Jagiellonian University Medical College who have been involved in research and management of vasculitis for several years. They have established a local vasculitis study group, called Krakow Vasculitis Study Group (KRAKVAS) whose major tasks is to set up a large vasculitis database for clinical and research. The authors believe that this local online electronic vasculitis database for data storage and analysis will help in better diagnosis and treatment of various vasculitic syndromes. Their future goal is to establish a platform for cooperation with other centers at the national level leading to the development of the national vasculitis registry.
Consult the Pubmed abstract

Screening and Testing
Childhood Heritable Diseases: looking forward
Genes causing rare heritable childhood diseases are being discovered at an accelerated pace driven by the decreasing cost and increasing accessibility of next-generation DNA sequencing combined with the maturation of strategies for successful gene identification. Genomic technologies are poised for widespread translation to clinical practice for the benefit of children and families living with these rare diseases. A review published in Annual Review of Medicine describes the current status of, and successful strategies for, NGS-based rare childhood disease gene discovery. The review not only highlights insights into clinical syndromes and biological mechanisms but also outlines the international cooperation and coordination needed to elucidate the mechanism of the remaining several thousand genetic diseases of childhood that need to be established.

While acknowledging that the causative genes for most rare childhood genetic diseases are unknown, the authors find hope in the fact that our understanding of these diseases is expanding as we gain insight into the mild and severe ends of the phenotypic spectrum and the underlying biological mechanisms, thanks to the impact of NGS-based technology. The authors outline various reasons why maintaining the pace of gene discovery for the increasingly rare diseases is important and also reiterate the significance of large-scale collaboration to advance the care for children with rare heritable diseases as it will require translation of genomic technologies to the clinic. They find the developments promising enough to maintain that although the majority of heritable childhood diseases still have no definitive treatment, advances in our understanding of the mechanisms for many diseases will provide therapeutic opportunities.
Consult the Pubmed abstract


Ethical, Legal & Social Issues
Increased information flow leads to changing usage of internet for information
The Genetic and Rare Disease Information Center (GARD) is a major provider of Web-based information on genetic and rare diseases. Little is known about the type of Web-based information individuals seek about genetic and rare diseases or their reasons for seeking. A paper published in JMIR Research Protocols describes the types of Web-based information sought about genetic and rare diseases and the reasons for seeking it from GARD by examining inquiries from 2006 and 2011. The authors randomly selected email and Web-based inquiries posed to GARD in 2006 and 2011 and examined them using content analysis. The results showed that most often in both years, individuals sought basic disease information and information about treatment while some requested information about their disease prognosis and made requests for specialists and information related to undiagnosed symptoms. The growing interest in current knowledge and the increasing information dissemination is requested in the fact that inquirers were significantly more likely to have seen a health care provider before contacting GARD and to ask about clinical research studies in 2011 than in 2006. Also seen was a gender difference between the two years as a majority of the inquirers were women in 2011 and men in the 2006 sample. The authors believe that the findings from this study indicate that lay people contacting a genetic and rare disease information center most often seek information about disease prognosis, finding a specialist, and obtaining a diagnosis for symptoms. They highlight the unique characteristics of individuals searching the Internet for genetic and rare diseases information, include a growing interest in participating in clinical research studies and a desire to supplement or better understand information discussed during a visit with a health care provider and believe that these efforts represent advancements in patient self-advocacy.
Read the open access article


EU Project Follow-up
The ODAK project: safe treatment for Acanthamoeba keratitis, a rare eye disease
The ODAK ('Orphan Drug for Acanthamoeba Keratitis') project is working to develop a safe and effective treatment for Acanthamoeba keratitis (AK), a rare infectious eye disease which causes severe debilitation and can lead to blindness. The ODAK project will undertake preclinical and clinical research on the Orphan Drug Polihexanide (PHMB). The ODAK consortium of five European companies and one university is currently engaged in preclinical trials, with clinical trials due to start in 2015. Through these, the project team hopes to identify optimal PHMB formulations and recommend the best dose-benefit treatment regimes. It is one of many EU-funded research projects supporting the goal of the International Rare Disease Research Consortium (IRDiRC) to provide 200 new therapies for rare diseases by 2020. SUPPORT-IRDIRC, for example, is working to directly support the IRDiRC in its mission to coordinate and foster international collaborative research on RD.
Read more on the ODAK project


New Syndromes

Progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures caused by compound-heterozygous mutations in QARS
The authors reported the identification of mutations in QARS as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres.
Consult the Pubmed abstract

Am J Hum Genet. ; [Epub ahead of print] ; March 2014
Intellectual disability with additional variable features of brachycephaly is associated with de novo loss-of-function mutations in SETD5
The authors identified seven individuals with loss-of-function mutations in SETD5. All mutations were compatible with de novo dominant inheritance. The affected individuals had moderate to severe intellectual disability with additional variable features of brachycephaly; a prominent high forehead with synophrys or striking full and broad eyebrows; a long, thin, and tubular nose; long, narrow upslanting palpebral fissures; and large, fleshy low-set ears. Skeletal anomalies, congenital heart defects, and behavioural problems were also reported.
Consult the Pubmed abstract

Am J Hum Genet. ; [Epub ahead of print] ; March 2014
An overgrowth syndrome with intellectual disability is due to mutations in DNMT3A
The authors performed exome sequencing and detected de novo mutations in DNMT3A. Mutation carriers had a distinctive facial appearance, intellectual disability and greater height.
Consult the Pubmed abstract

Nat Genet. ; Epub ahead of print ; March 2014
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
The authors reported ten patients with autism spectrum disorders and other shared clinical characteristics, including intellectual disability and facial dysmorphisms caused by de novo mutations in ADNP.
Consult the Pubmed abstract

Nat Genet. ; 46(4):380-4 ; April 2014
A novel syndrome involving the central nervous system and connective tissues is caused by a missense mutation in fibulin-1
The authors discovered a missense mutation in fibulin-1 in three patients from a consanguineous family. The patients presented a novel syndrome of syndactyly, undescended testes, delayed motor milestones, intellectual deficit and signs of brain atrophy.
Consult the Pubmed abstract

Eur J Hum Genet. ; [Epub ahead of print] ; September 2013
A novel inherited disorder of the endoplasmic reticulum-associated degradation pathway linked to mutations in NGLY1
In order to define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway, the authors studied eight patients with deficiency of N-glycanase 1. They concluded that this disorder was associated with neurological dysfunction, abnormal tear production and liver disease.
Consult the Pubmed abstract

Genet Med. ; [Epub ahead of print] ; March 2014
A novel immunodeficiency syndrome associated with partial trisomy 19p13
The authors reported on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving chromosome 19p13.
Consult the Pubmed abstract

J Med Genet. ; 51(4):254-63 ; April 2014
Intellectual disability, macrocrania, patellar dislocation, and celiac disease due to TBC1D7 loss-of-function mutations
The authors identified two sisters homozygote for the novel TBC1D7 truncating mutation. The sisters presented with macrocephaly, mild intellectual disability and shared osteoarticular defects, patella dislocation, behavioural abnormalities, psychosis, learning difficulties, celiac disease, prognathism, myopia, and astigmatism.
Consult the Pubmed abstract

Hum Mutat. ; 35(4):447-51 ; April 2014

New Genes

Retinitis pigmentosa due to homozygous nonsense mutation in KIZ
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Am J Hum Genet. ; 94(4):625-33 ; April 2014
Stormorken-like syndrome, tubular myopathy and congenital miosis caused by gain-of-function mutations in STIM1 and ORAI1
Consult the Pubmed abstract
To read more about "Stormorken-Sjaastad-Langslet syndrome"

Proc Natl Acad Sci U S A. ; 111(11):4197-202 ; March 2014
Progressive familial intrahepatic cholestasis due to mutations in TJP2
Consult the Pubmed abstract
To read more about "Progressive familial intrahepatic cholestasis"

Nat Genet. ; [Epub ahead of print] ; March 2014
Amelogenesis imperfecta caused by mutations in ITGB6
Consult the Pubmed abstracts
To read more about "Amelogenesis imperfecta"
To read more about "Hypoplastic amelogenesis imperfecta"
To read more about "Hypocalcified amelogenesis imperfecta"

Hum Mol Genet. ; 23(8):2157-63, 2189-97 ; April 2014
Megacystis-microcolon-intestinal hypoperistalsis syndrome linked to heterozygous de novo and inherited mutations in ACTG2
Consult the Pubmed abstract
To read more about "Megacystis-microcolon-intestinal hypoperistalsis syndrome"

PLoS Genet. ; 10(3):e1004258 ; March 2014
Cardiodysrhythmic potassium-sensitive periodic paralysis caused by a mutation in KCNJ5
Consult the Pubmed abstract
To read more about "Cardiodysrhythmic potassium-sensitive periodic paralysis"

Neurology ; 82(12):1058-64 ; March 2014
Familial epilepsy with polymicrogyria due to a homozygous missense mutation in FIG4 in a consanguineous Moroccan family
Consult the Pubmed abstract
To read more about "Bilateral parasagittal parieto-occipital polymicrogyria"

Neurology ; 82(12):1068-75 ; March 2014
Familial infertility associated with a homozygous frameshift mutation in ZP1 in six family members
Consult the Pubmed abstract
N Engl J Med. ; 370(13):1220-6 ; March 2014
Early infantile epileptic encephalopathy due to NECAP1 loss of function in six affected individuals of a multigenerational consanguineous family
Consult the Pubmed abstract
To read more about "Early infantile epileptic encephalopathy"

J Med Genet. ; 51(4):224-8 ; April 2014
Distal hereditary motor neuropathies caused by recessive mutations of HINT1 in two patients
Consult the Pubmed abstract
Eur J Hum Genet. ; [Epub ahead of print] ; October 2013
Borrone dermato-cardio-skeletal syndrome linked to mutations in SH3PXD2B in two families
Consult the Pubmed abstract
To read more about "Dermato-cardio-skeletal syndrome, Borrone type"

Eur J Hum Genet. ; [Epub ahead of print] ; October 2013
Acromesomelic dysplasia, Grebe type associated to homozygous missense and nonsense mutations in BMPR1B
Consult the Pubmed abstract
To read more about "Acromesomelic dysplasia, Grebe type"

Eur J Hum Genet. ; [Epub ahead of print] ; October 2013
A novel mitochondrial muscle myopathy linked to deleterious mutation in FDX1L gene
Consult the Pubmed abstract
Eur J Hum Genet. ; [Epub ahead of print ; November 2013
An individual with blepharophimosis - epicanthus inversus – ptosis syndrome and additional phenotypic features without FOXL2 mutation presented mutations in KAT6B
Consult the Pubmed abstract
To read more about "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation"

Am J Med Genet A. ; 164(4):950-7 ; April 2014
Recessive azoospermia caused by truncating mutations in TAF4B and ZMYND15
Consult the Pubmed abstract
J Med Genet. ; 51(4):239-44 ; April 2014

Research in Action

Clinical Research
Soft tissue sarcoma: the use of intensified doxorubicin and ifosfamide is not recommended unless the specific goal is tumor shrinkage
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Soft tissue sarcoma"

Lancet Oncol. ; 15(4):415-23 ; April 2014
Follicular lymphoma: rituximab monotherapy should be considered as a treatment option for asymptomatic and advanced-stage patients
Consult the Pubmed abstract Consult this study on Orphanet
To read more about "Follicular lymphoma"

Lancet Oncol. ; 15(4):424-35 ; April 2014
B-cell chronic lymphocytic leukemia: obinutuzumab combined with chlorambucil improved outcomes in patients compared to rituximab combined with chlorambucil
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

N Engl J Med. ; 370(12):1101-10 ; March 2014
Rett syndrome: insulin-like growth factor 1 is safe, well tolerated and ameliorates certain breathing and behavioral abnormalities
Consult the Pubmed abstract
To read more about "Rett syndrome"

Proc Natl Acad Sci U S A. ; 111(12):4596-601 ; March 2014
Amyotrophic lateral sclerosis: cervical and dual-targeted intraspinal transplantation of neural stem cells is feasible and well-tolerated
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Ann Neurol. ; 75(3):363-73 ; March 2014
Choroideremia: retinal gene therapy with and adeno-associated viral vector encoding REP1 is consistent with improved rod and cone function
Consult the Pubmed abstract
To read more about "Choroideremia"

Lancet ; 383(9923):1129-37 ; March 2014
Neuromyelitis optica: allogeneic hematopoeitic stem cell transplantation results in clinical and radiological improvement
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

Ann Neurol. ; 75(3):447-53 ; March 2014
Diazoxide-resistant diffuse hyperinsulinism: clear glycemic response to sirolimus in infants and no major adverse events during one year follow-up
Consult the Pubmed abstract
To read more about "Diazoxide-resistant diffuse hyperinsulinism"

N Engl J Med. ; 370(12):1131-7 ; March 2014
Idiopathic aplastic anemia: eltrombopag restores hematopoeisis that can be sustained on discontinuation of drug
Consult the Pubmed abstract
To read more about "Idiopathic aplastic anemia"

Blood ; 123(12):1818-25 ; March 2014
4-hydroxybutyric aciduria: adaptive behavior does not improve significantly with taurine intervention
Consult the Pubmed abstract
To read more about "4-hydroxybutyric aciduria"

Neurology ; 82(11):940-4 ; March 2014
Sporadic idiopathic steroid-resistant nephrotic syndrome: ofatumumab for rituximab-resistant pediatric patients
Consult the Pubmed abstract
To read more about "Sporadic idiopathic steroid-resistant nephrotic syndrome"

N Engl J Med. ; 370(13):1268-70 ; March 2014
New insight for aortic dissection in Marfan syndrome patients: aortic root replacement or repair should be recommended
Consult the Pubmed abstract
To read more about "Marfan syndrome"

Circulation ; 129(13):1381-6 ; April 2014
Gene Therapy
Mucopolysaccharidosis type 7: a helper-dependent canine adenovirus vector harboring a human GUSB expression cassette corrected neuropathology throughout the dog cerebrum
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 7"

Mol Ther. ; 22(4):762-73 ; April 2014
Huntington disease: intrajugular vein injection of adeno-associated viral vector serotype 9 prevented weight loss, atrophy and inclusion formation in key brain regions in mice
Consult the Pubmed abstract
To read more about "Huntington disease"

Mol Ther. ; 22(4):797-810 ; April 2014
Junctional epidermolysis bullosa: the adeno-associated virus serotype DJ fully reversed the blistering phenotype both in vitro and in skin grafts
Consult the Pubmed abstract
To read more about "Junctional epidermolysis bullosa"

Mol Ther. ; 22(4):725-33 ; April 2014
Metachromatic leukodystrophy: long-term correction of biochemical and neurological abnormalities in mice model by neonatal systemic injection of an ssAAV9
Consult the Pubmed abstract
To read more about "Metachromatic leukodystrophy"

Gene Ther. ; 21(4):427-33 ; April 2014
Therapeutic Approaches

Pelizaeus-Merzbacher disease: lonaprisan partially rescued the upregulation of proapoptotic genes and reduced microgliosis, astrogliosis and lymphocyte infiltration in mouse model
Consult the Pubmed abstract
To read more about "Pelizaeus-Merzbacher disease"

Mol Genet Metab. ; 111(3):374-81 ; March 2014
Erythropoietic protoporphyria: the in vivo correction of a common single splicing defect with antisense oligonucleotide-based therapy would improve the patients’ condition
Consult the Pubmed abstract
To read more about "Erythropoietic protoporphyria"

Am J Hum Genet. ; 94(4):611-7 ; April 2014
Rhodopsin autosomal dominant retinitis pigmentosa: Hsp90 represents a potential therapeutic target but sustained Hsp90 inhibition might adversely affect visual function
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Hum Mol Genet. ; 23(8):2164-75 ; April 2014
Osteosarcoma: selective inhibition of BET bromodomain epigenetic signaling interferes with the bone-associated tumor vicious circle
Consult the Pubmed abstract

Nat Commun. ; 5:3511 ; March 2014
Osteosarcoma: silencing microRNA-133a with locked nucleic acid (LNA) reduced cell invasion, and administration of LNA with chemotherapy prolonged survival in mice
Consult the abstract
To read more about "Osteosarcoma"

Stem Cells ; 32(4):959–973 ; April 2014
Glioblastoma: the combination of Gint4.T and an epidermal growth factor receptor-targeted aptamer is better at slowing tumor growth than either single aptamer alone
Consult the Pubmed abstract
To read more about "Glioblastoma"

Mol Ther. ; 22(4):828-41 ; April 2014
Thrombotic thrombocytopenic purpura: plasmin, a thrombolytic agent, may help treating microangiopathies and may be useful to bypass inhibitory antibodies against ADMTS13
Consult the Pubmed abstract
To read more about "Thrombotic thrombocytopenic purpura"

Circulation ; 129(12):1320-31 ; March 2014
Graft versus host disease: the JAK inhibitor tofacitinib prevented weight loss, mucocutaneous lesions and reversed the disease in a murine model
Consult the Pubmed abstract
To read more about "Graft versus host disease"

J Invest Dermatol. ; 134(4):992-1000 ; April 2014
Myeloproliferative neoplasms: therapy with PU-H71 and ruxolitinib improved blood counts, spleen weights, and reduced bone marrow fibrosis compared with ruxolitinib alone in mice
Consult the Pubmed abstract
To read more about "Myeloproliferative neoplasm"
To read more about "Essential thrombocythemia"

Blood ; 123(13):2075-83 ; March 2014
Diagnostic Approaches

A review of Angelman-like syndromes
Consult the abstract
To read more about "Angelman syndrome"

American Journal of Medical Genetics Part A ; 164(4):975–992 ; April 2014

Patient Management and Therapy
Sarcoidosis: a review
Consult the Pubmed abstract
To read more about "Sarcoidosis"

Lancet ; 383(9923):1155-67 ; March 2014
Mastocytosis: review on the management
Consult the abstract
To read more about "Mastocytosis"

Expert Opinion on Orphan Drugs ; 2(4):321-336 ; April 2014
Prader-Willi syndrome: review on current status and perspectives in the treatment
Consult the abstract
Expert Opinion on Orphan Drugs ; 2(4):337-347 ; April 2014
Acute intermittent porphyria: a review on management
Consult the abstract
To read more about "Acute intermittent porphyria"

Expert Opinion on Orphan Drugs ; 2(4):349-368 ; April 2014
Cryoglobulinemic vasculitis: review on current and future therapeutic strategies for the treatment
Consult the abstract
To read more about "Cryoglobulinemic vasculitis"

Expert Opinion on Orphan Drugs ; 2(4):381-390 ; April 2014
Myelofibrosis with myeloid metaplasia: review on orphan drugs
Consult the abstract
To read more about "Myelofibrosis with myeloid metaplasia"

Expert Opinion on Orphan Drugs ; 2(4):391-405 ; April 2014
Mucopolysaccharidosis type 6: galsulfase is well tolerated, and improves results in walk test, stair climb and urinary GAG levels
Consult the abstract
To read more about "Mucopolysaccharidosis type 6"

Expert Opinion on Orphan Drugs ; 2(4):407-417 ; April 2014
Hemophilia A: review on turoctogog alfa and drug development
Consult the abstract
To read more about "Hemophilia A"

Expert Opinion on Orphan Drugs ; 2(4):419-431 ; April 2014
PMP22 related neuropathies: a review on Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 1A"

Orphanet J Rare Dis. ; 9:38 ; March 2014
Non-Hodgkin lymphoma: risk of central nervous system dissemination
Consult the Pubmed abstract
To read more about "Non-Hodgkin lymphoma"

Lancet Oncol. ; 15(4):e159-e169 ; April 2014
Tuberous sclerosis: sun exposure causes somatic mutations and angiofibroma development
Consult the Pubmed abstract
To read more about "Tuberous sclerosis"

Hum Mol Genet. ; 23(8):2023-9 ; April 2014
Hemorrhagic fever - renal syndrome: increased risk of acute myocardial infarction and stroke
Consult the Pubmed abstract
To read more about "Hemorrhagic fever - renal syndrome"

Circulation ; 129(12):1295-302 ; March 2014

Orphan Drugs
Finding a home for an orphan (drug): a biontrepreneurs guide
An article published in Nature Biotechnology has provided an analyses on whether the regulatory incentives on orphan drugs have helped bioentrepreneurs with an orphan drug focus reap financial rewards based on the likelihood of investment from big pharmas. The authors do this by identifying “the important acquirers, average price of purchase and at what stage orphan disease companies get bought”, which they believe should “inform bioentrepreneurs about the orphan drug space and their potential futures in it”. The authors identified 98 mergers and acquisitions using the HBM Partners Mergers and Acquisitions Report and analysed the conditions where companies with an orphan focus are acquired

Interestingly, the authors found that, on average, companies with and without an orphan designation (ODN) on their lead compound were bought within eight years of their founding. However, companies with an ODN compound were bought at phase 3 of the drug trial, while companies without an orphan focus were bought during the phase 3 trials, signifying a shorter time for drug development for orphan drugs but not a shorter time for acquisition. The authors postulate that this may be caused either due to the perceived market risk of orphan drugs or because of the reluctance of bioentrepreneurs with an orphan focus to sell their company after the phase 2 trial. Additionally, the authors discovered that from “(a) financial standpoint it is about as attractive to develop drugs for a rare disease as it is for a more common illness”. Keeping this data in mind the authors advice bioentrepreneurs with an orphan-focused company that their "financing status should allow for the complete development of a compound in-house”.

Other useful information provided by the authors includes some useful statistics on the behaviour of big pharmas on acquiring and developing orphan products. They report that during 2008-2012 Pfizer was the biggest acquirer, followed by Gilead, Roche and Shire, while neither Novartis, GlaxoSmithKline nor Roche acquired a company but did develop many ODNs during this period. Thus the authors warn that “although most pharmaceutical companies have in-house ODN programs, only a subset of big pharma is interested in acquiring orphan-designated drugs”. The authors recognise the challenges bioentrepreneurs face while starting a company with an orphan focus and believe that this analysis should provide them with some indication as to how they can make the best out of their investment.
Access the article

CHMP recommends authorisation Sylvant - the first medicine for Castleman's disease
The European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has recommended the granting of a marketing authorisation for Sylvant (siltuximab), for the treatment of adult patients with multicentric Castleman’s disease which is a chronically debilitating and life threatening characterised by non-cancerous growth of the lymph nodes and related tissues.

This orphan medicinal product has been developed using the incentives put in place by the orphan legislation. The company utilised the free scientific advice during the development of the medicine, which is among the Agency’s most important instruments to encourage the development of medicines for patients suffering from rare diseases. Sylvant was also evaluated by accelerated assessment, another regulatory tool to help speed up patient access to new medicines where there is an unmet medical need.

The CHMP opinion on Sylvant will now be sent to the European Commission for adoption of a decision on an EU-wide marketing-authorisation.
Go to the EMA website for further information on Sylvant

Regulatory News
Post-marketing access to orphan drugs
An article published in Orphan Drugs: Research and Reviews explores post-marketing access to orphan drugs focusing on health technology assessment (HTA) and reimbursement decision-making considerations for orphan drugs. Here the authors reiterate the importance of empirically determining a higher value of an orphan drug to justify reimbursement decisions which is complicated by the fact that the quality of orphan drug evidence is not the same as other drugs. The authors also maintain that the timely access to these products is crucial and recommend “early constructive dialogue among orphan drug stakeholders and elaboration of orphan drug-tailored methodology tools could set the scene for ongoing accumulation of evidence, as well as for proper and timely assessment and appraisal”.
Read the open access article

NICE confirms effectiveness of eculizumab in patients suffering from atypical haemolytic uremic syndrome
A press release from Alexion pharmaceuticals has announced that NICE has confirmed the continuation of the current broad NHS England interim commissioning policy for Eculizumab to treat existing and new patients with atypical haemolytic uremic syndrome (aHUS), a debilitating, ultra-rare and life-threatening genetic disorder characterised by complement-mediated thrombotic microangiopathy, or TMA (blood clots in small vessels). This comes after NICEs’ assessment that up to 40% of aHUS Patients may die or progress to end-stage renal failure and require dialysis with the first clinical ahus manifestation without eculizumab treatment. NICE seeks further information from NHS England and Alexion on budget considerations and budget impact, however, no further data on clinical effectiveness has been requested before the release of the final policy report.
Read the press release

Managed entry agreements for rapid access to orphan medicinal products in Europe
A study published in Orphanet Journal of Rare Diseases reviews and analyses the practice of managed entry agreements (MEAs) applied to orphan medicinal products (OMPs) across key European countries. The authors reviewed national health technology assessments and reimbursement decisions on OMPs across seven European countries which helped them identify 42 MEAs for 26 OMPs. The authors found that, "a variety of MEAs are increasingly used by national healthcare payers to manage aspects of uncertainty associated with the introduction of OMPs in the healthcare system, which may be of a clinical, utilisation, or budgetary nature". The authors state that MEAs are, de facto, tactical tools that allow for flexibility to national payers to earn more certainty on the value brought by an OMP and/or to reduce the bill, as well as to pharmaceutical manufacturers to make sure that their drugs are allowed to enter the markets and reach the patients in need. Based on their findings the authors believe the MEA's should enable the effective provision of an innovative and promising medicine to patients under specific conditions and within an agreed timeframe, albeit to a restricted number of medicines. The authors also maintain that they should remain voluntary contracts and their objectives should be transparent.
Read the open access article

Review addressing how FDA can further the development of medications for unmet needs

A state of the art review published in Clinical Pharmacology & Therapeutics describes the how the US Food and Drug Administration (FDA) set up the special-designation programs—orphan, priority review, accelerated approval, and fast track whose goals have been to expedite and sustain development and facilitate authorization of new medicines for unmet medical needs through so-called “push–pull” incentives. The author Milne C.P. says that although generally successful over time, their success has been confined to certain therapeutic areas and, within those areas, certain diseases. However, he has noted that although there is a considerable burden on research and development and public health urgency, there is an impetus for the FDA to intervene more actively for certain disease areas are now broadly experienced across many disease areas times are changing. The author describes the need for the FDA to make designation and implementation decisions with a view that reaches beyond the immediate horizons of political expediency and patient advocacy. He points to ways in which the FDA can encompass the broader expanse of factors that now influence R&D decisions—global competitiveness, the needs of investors, emerging sponsors, and patient-focused drug development into rapid advances for new medicines for special medical needs.
Read the open access article

Political and Scientific News
A bright future ahead due to advances in paediatric gene and cell therapy
A review published in Advanced Drug Delivery Reviews describes the range of possible gene and cell therapy applications which is expanding at an extremely rapid rate. Currently advanced therapy medicinal products (ATMP) is on the cutting edge of novel medicines. In this article, the authors refer to the enormous benefits paediatric patients with inherited conditions stand to gain from these novel therapies as it now seems plausible to develop a gene or cell therapy for a vast number of these diseases The authors describe progress in various cell and gene therapies, which at present in the EU, are regulated under the guidelines for ATMP are divided into three categories i) somatic cell therapy, ii) gene modified cells and iii) xenotransplantation. They also illustrate the advancements that has been made in the area of stem cell therapies. Further to explaining the state of the art of the development of cell and gene therapies, the path that can be taken for a bench-to-bedside approach is discussed in this article. The authors introduce the key developments in advanced therapies for conditions affecting children including corneal and retinal repair, pancreatic islet cell therapy, muscle repair, haematopoietic stem cell therapy adjuncts.

The authors warn that, although several of the gene and cell therapies have received orphan drug designation, only 4 ATMPs have received marketing authorisations: Glybera, Epicel, Carticel and ChrondroCelect with only one licensed gene therapy treatment (Glybera), despite 20 years of clinical trials. But the authors end with a positive note stating that the slow rate of progress is being acknowledged and a change in tide is forecasted the benefits of these therapies appear to outweigh costs.
Consult the Pubmed abstract

Review addressing classification and potential therapeutic options for Mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are a group of rare genetic disorders, classed as lysosomal storage diseases (LSDs) that show progressive multi-organ dysfunction with varying onset and severity. An article published in Journal of Clinical Pharmacy and Therapeutics provides an overview of the classification, clinical manifestations and pathophysiology of MPSs. It also describes current treatment modalities based on the results of major clinical trials and expert consensus guidelines in addition to emerging therapies that are being investigated.

In MPSs, abnormal GAG storage takes place in lysosomes, secondary to deficiency of one of the lysosomal enzymes involved in breaking down GAGs. According to the authors the most effective treatment for MPSs appears to be enzyme replacement therapy (ERT), which has improved the clinical status and quality of life for many patients. However, the authors also point to the major limitations of ERT, which include high cost, need for frequent administrations and failure to prevent the adverse skeletal and CNS effects of the disease. The authors believe that the success in haematopoietic stem cell transplantation (HSCT) is currently limited to draw conclusions about its efficacy and safety. However, they recognise the rapid development in substrate reduction therapy and gene therapy in the recent years and find these options as potential therapeutic avenues for MPSs.
Consult the Pubmed abstract



The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
The Erdheim-Chester Disease Global Alliance is interested in receiving Letter of Intents for any study that can lead to an increase of knowledge related to the etiology, pathophysiology, diagnosis or treatment of Erdheim-Chester Disease. Upto a 100,000 USD will awarded to a maximum of 2 grants for projects that focus on areas that include development and implementation of an ECD patient registry, clinical trials related to treatment of ECD, improving the quality of life for ECD patients, simplifying diagnosis of ECD, understanding the pathobiology and molecular mechanisms of the disease. All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit before 1 April, 2014. For further information
DEBRA International research grants
This grant aims to
• Improve our 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
The deadlines for application submissions are normally twice per year, on 15th February or March and 15th September. Decisions on funding applications from these calls will normally be made in June and December, respectively.
However, details of calls and submission dates can vary from year to year, so always check this page

The Ataxia of Charlevoix-Saguenay Foundation
The Ataxia of Charlevoix-Saguenay Foundation is offering an annual research grants for work aimed at developing treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Such funding is offered regardless of where the research is being conducted and the deadline to apply is May 22, 2014. Further information and the application form can be obtained on the Foundation's website
For further details

Translational consortia for rare diseases research
The funding initiative aims to concentrate research capacities in regional or nationwide research consortia that will develop new knowledge on rare diseases through interdisciplinary cooperation. The research consortia should combine projects on basic research, clinical research and/or health care research into an integrated programme which promises convincing potential for innovation and a short to mid-term effect on improving care for patients. Application Deadline: May 21, 2014
For further details in German

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 may apply for these grants. The award consists of One fellowship of 18000€ for a long exchange and four fellowships of 4500€ for a short exchange. Eligibility criteria for this grant includes exchange with a laboratory or department from another country; involve at least one European laboratory; exchange of benefits to both host and home laboratory.
The deadline for receipt of applications is the 1st October 2014.
To download the application form, click here.
href="http://www.fondation-r-touraine.org/Presentation-and-rules?lang=en" target="_blank"class="Url">For further information.


Partnersearch, Job Opportunities
Group leader positions in the Imagine Institute of Genetic Diseases
The new Imagine Institute of Genetic Diseases, affiliated with the Necker Enfants maladies Hospital campus Paris, is inviting applications for group leader positions. Imagine is an interdisciplinary research center with excellent core facilities for genomics, cell imaging, flow cytometry, bioinformatics, pathophysiology and animal housing for transgenic mice and zebra fish. The new tailor-made building (to be opened in early January 2014) will offer cutting-edge research facilities. The Institute focuses on rare diseases, their genetic architecture and life-long outcomes. Imagine intends to address unmet basic and clinical research questions related to rare diseases, in order to increase knowledge in a major medical field that is currently insufficiently covered. This will result in the development of new biological concepts, diagnostic tools and innovative therapeutics. Applications can focus on any field directly linked or related to the basis, pathophysiology and treatment of genetic diseases, with special emphasis on:
1- Development, stem cells and neuroscience.
2- Computational biology and/or bioinformatics.
Applications in these two areas will be separately evaluated. Appointments will be made at a junior or senior level, depending on experience. Applications should be submitted to Professor Alain Fischer before May 15 2014 Further information can be found at
www.institutimagine.org or email newgroups@institugimagine.org

Call for projects “Preclinical Research in Rare Diseases”
The Rare diseases Foundation launches its first call for projects "Preclinical research in rare diseases: development of translational steps in large animals." The objective of this call for proposals is to support scientific programs pilots at the interface of the proof of concept in vivo obtained in rodents most often, and the development of a clinical application in humans to to improve the well-being of patients.Le Foundation support Rare diseases will allow carriers winners realize their projects in structures known for their expertise, in accordance with European regulations. All the elements to respond to this call for proposals are available you registering / connecting to the professional space , heading Funding Landscape Foundation tab rare diseases.

Courses & Educational Initiatives

European Cytogeneticists Association Courses
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2014 course is now available. For Further details
The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 7-9 May 2014
Venue: London, UK

Aimed at both paediatric and adult metabolic specialist and traineess, this course will discuss issues and address a number of specific controversies in the management of older patients with IMDs.
For further information

5th ESO-SIOP Europe Masterclass in paediatric oncology
Date: 17-22 May 2014
Venue: Ljubljana, Slovenia

ESO and SIOP-Europe are pleased to announce the fifth Masterclass in Paediatric Oncology. This clinically-oriented educational programme has been designed for young paediatric oncologists who wish to improve their skills in clinical management of common childhood tumours. It is designed to offer a unique learning experience, providing practice-oriented training and the teaching sessions will focus on the application of the most recent research findings to clinical practice. Application deadline: 3 February 2014. Information, detailed programme and application form available at www.eso.net

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). The structure of this one-day workshop is organized in 4 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.
Further Information

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


What's on Where?

7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
Date: 8-10 May 2014
Venue: Berlin, Germany

The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

EUROPLAN National Conferences Spain
Date: 6 June, 2014
Venue: Madrid, Spain

Organised by FEDER; the Spanish Alliance for Rare Diseases

2014 International Collaboration for Clinical Genomics (ICCG)Conference
Date: 11-12 June 2014
Venue: Maryland, US

International Collaboration for Clinical Genomics (ICCG) is creating a universal, clinical-grade database of genomic variation (including structural and sequence variants), available to the public through resources such as NCBI's ClinVar database, and much more. For this conference ICCG encourage the attendance of clinical laboratory personnel (from both cytogenetics and molecular communities), clinicians, genetic counsellors, and others that are interested in setting the standards for clinical-grade databases of genomic variation.
For further information

LGDA Patient – Family Conference
Date: 13-14 June 2014
Venue: Texas, U.S.

The Lymphangiomatosis & Gorham's Disease Alliance (LGDA) will hold its inaugural Patient - Family Conference. This milestone event will bring patients, families, and experts in the field from around the world together for the very first time on June 13 & 14, 2014, at the Sheraton Suites Market Center in Dallas, Texas, U.S. For details about the conference visit the website.

Euromit 2014 - International Meeting on Mitochondrial Pathology
Date: 15–19 June, 2014
Location: Tampere, Finland

Euromit 2014 will be the 9th in a series of international conferences dedicated to understanding mitochondrial disease. The conference will bring together leaders of the field as well as many young talents. The organisers expect that around 700 molecular scientists, clinicians and representatives of the healthcare industry to attend.
For further information

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

This biannual meeting is organised by the European Working Group on Gaucher Diseases 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

Day To Day With SMA
Date: 28–29 June, 2014
Location: Warwickshire, UK

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

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

The XIII ICNMD experts will come together to share knowledge and experiences in the field of neuromuscular diseases. Physicians and scientists, involved in the diagnosis and care to the most updated research in basic mechanisms and therapeutic approaches in the theme will greatly benefit.
For further details

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

Jointly developed by the Bio-Ontologies and BioLINK special interest groups, the Phenotype Day will bring researchers together from different disciplines to share information about phenotype resources and issues as well as experiences with defining, representing, processing and using phenotype data.
For further details

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

The conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Update on new therapeutic strategies will be presented and challenging issues will be discussed. They have planned to invite distinguished lecturers notably in the field of innate immunity.
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

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

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

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

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, United Kingdom

The topics covered will be of interest to clinicians who deal with rare disorders or have an interest in clinical genetics, IEMs or Paediatrics. It is expected that participants will 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 further information

Third Angelman Syndrome International Meeting (2014)
Date: 18-19 October, 2014
Venue: Paris, France

The French Angelman Syndrome Association (AFSA), organised the Third Angelman Syndrome International Meeting, for researchers and clinicians working on neurosciences, gene therapy, neurological development impairment, more specifically on Angelman syndrome. The meeting is also open to the official representatives of European and national Angelman syndrome organisations (up to 2 persons per organisation).
For further information

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

It will bring together the international scientific community that studies the mechanisms associated with this syndrome to promote exchanges between researchers to advance research in genetics and neuroscience on this rare disease.
For further information

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

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. There is presently no known cure for Batten disease
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 which was attended by 400 participants. The congress will be a two-day programme and is opened to all stakeholders with an interest in the clinical management of primary immunodeficiencies (PIDs).
For Further Information

Cilia 2014
Date: 18-21 November, 2015
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. It is being 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

Commercial events

The Commercialisation of Orphan & Rare Disease Drugs 2014
Date: 20–21 March, 2014
Venue: London, UK

This forum provides a unique opportunity to meet, network and hear from acknowledged industry experts. Discover untapped revenue streams in the blockbuster market - increase your bottom line and ensure the commercial success of your organisation. Explore the latest trends in pricing and reimbursement, and more importantly what lies beyond – from optimal business models to improving your marketing and sales strategy.
For further information

World Orphan Drug Congress USA
Date: 23 – 25 April, 2014 Venue: Washington D.C., U.S. The 4th annual World Orphan Drug Congress USA is dedicated to fostering partnerships and collaboration. It is about expediting orphan drug development and articulating its value, from discovery to patient access, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

Stem Cell Commercialization & Partnering Conference
Date: 23–25 April, 2014
Venue: Boston, U.S

This forum presents information regarding cutting-edge developments in all areas of stem cell research including the biology, medicine, applications, regulations and business of stem cells. This track focuses on the business opportunities, challenges and potential strategies for overcoming them.
For further information

9th World Stem Cells & Regenerative Medicine Congress
Date: 20–22 May, 2014 Location: London, UK In this event pharma, biotech, academia and investors join together and which is a medium for biotechs and academia to get their research noticed.
For further information

The World Orphan Drug Congress Asia 2014
Date: 10-11 June 2014
Venue: Singapore

The World Orphan Drug Congress Asia 2014 focuses on fostering partnerships and relationships between industry, governments, payers, investors and patients as well as to expedite orphan drug development and articulating its value, from discovery to clinical development, to license, to manufacturing, to launch and to sustainability of supply, so that manufacturers are guaranteed full and speedy reimbursement.
For Further Information

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

Global partnering opportunities start here World Orphan Drug Congress Europe partnering opportunities are the most efficient and economical way to find a business partner in the orphan and rare disease field. The event plans to bring attendees face-to-face with prequalified buyers who have budget for your solutions. Key networking platforms include: Dedicated networking functions; Privately hosted meeting areas; Online partnering portal and access to free smartphone app; Personal networking managers to assist in meeting scheduling.
For further information


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

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