27 November 2013 print
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UK Rare Diseases Strategy just presented by Lord Howe

The UK government has presented a new plan designed to improve "support, treatment and research" for people affected by rare diseases.
The aim of the UK Rare Diseases Strategy, launched by health minister Lord Howe on the 22th of November, is to set out a country-wide vision for building on "our reputation as a world leader in rare disease research, including revolutionary genomic research to help transform diagnosis and treatment".
The key elements of the strategy include "a clear personal care plan for every patient that brings together health and care services, with more support for them and their families". It will also offer support for specialised clinical centres and "better education and training for health and social care professionals to help ensure earlier diagnosis and access to treatment".
The government has also announced that the National Institute for Health Research is establishing a Rare Diseases Translational Research Collaboration (TRC), putting in £20 million over four years. Lord Howe noted that "for the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases". He concluded by saying that "the UK already leads the way with ground-breaking research to better understand and treat these illnesses and this strategy will help cement our reputation as the driving force in this field".
Access the UK strategy


EU Policy News
Cross border healthcare initiative a reality and a triumph for rare disease patients

The right to receive treatment anywhere across EU is now possible. According to the press release by the European Commission, “european citizens, no matter where they live, have the right to choose where to receive medical treatment across the EU, and to be reimbursed for it”. This is in accordance with Cross border Directive that came into force on 25 October 2013 in the European Union. According to the European Commission this Directive introduces three vital amendment that focuses on the rights of the patients. With the passing of this Directive, EU citizens will have the “right to choose and be reimbursed for treatment, either public health care or private health care, anywhere in the EU.... prior authorisations for cross-border healthcare will become the exception rather than the rule (and) the citizens have the right to make informed decisions about treatment options”. EU citizens can now receive pertinent information from national contact points, established under the new Directive, and information from health care and treatment providers directly. In an effort to increase transparency the Directive calls on collaboration and assistance Member States especially for operationalising eHealth tools and the use of health technology assessment. Additionally, this Direcetive will not only ease recognition of prescriptions for medical products, it may also assist in the “development of European reference networks, to encourage the pooling of knowledge and maximise the cost effective use of resources in highly specialised healthcare, such as the diagnosis and treatment of rare diseases”. This new law is a huge step forward for European citizens and for the healthcare systems, as they will be manage and make healthcare decisions more efficiently.
Read the press release

In related news, the World Health Organization has released a document entitled Hospital and Borders: Seven case studies on cross-border collaboration and health system interactions. In light of the Cross border initiative coming into force, this significant document explores a key question of “why hospitals collaborate with each other and with other health care actors across borders in Europe”. The authors consider that although the Directive 2011/24/EU on Cross Border Healthcare is believed to be beneficial, where cooperation and collaboration in healthcare in border regions is encouraged, why such collaborations exists and the motivation behind this is not known. In this document, the authors address these questions. According to the authors, “the purpose of this document is not to advocate collaboration but to explore the reasons behind it, taking a neutral stance to better grasp its nature and potential merits”. The key objectives of this volume is to understand the goals and motivations of the stakeholders to study the measures taken for crossborder collaboration and to “assess how cross-border collaboration interacts with the context in which it takes place”. According to the editor, this research is the first to understand “qualitative and analytical aspects of crossborder collaboration involving health care actors”.
Read the document
European Medicines Agency updates on development of its policy on publication and access to clinical-trial data
The European Medicines Agency has recieved more than 1,000 comments received during the public consultation on its draft policy on publication and access to clinical-trial data. The Agency believes that the release of clinical data is necessary for fostering transperancy in order to build trust and confidence. They maintain that “availability of data broadens the scientific knowledge base, fosters innovation and encourages investment in the development of medicines and ultimately benefits public health”. Due to the large amount of comments received the Agency has announced they will delay the finalisation of the policy so that suitable in-depth analysis can be conducted. An update on timelines will be provided at the latest following the EMA Management Board meeting on 11-12 December 2013.
Read the draft policy

Additionally, an article on How access to full clinical-trial data sets will benefit medicines developers was published in the New England Journal of Medicine by four members of the European Medicines Agency staff, including its Executive Director and Senior Medical Officer. In the article titled ‘Access to patient-level trial data – A boon to drug developers ’, the authors regard that access to complete clinical-trial data, including patient-level data, will achieve the following:
• Help increase the efficiency of drug development and improve cost effectiveness
• Improve comparative-effectiveness analysis
• Reduce duplication of effort among trial sponsors
The authors believe that concerns related to the risk of misinterpretation of clinical trials may be misplaced as “inappropriate secondary data analyses are likely to occur regardless of the nature of the data .... (and) call for a two-way transparency principle by which any secondary analysis is also to be published and subject to critical review”.
Read the article


National & International Policy Developments
Other European news
New Next Generation Sequencing panels database on Eurogentest
Eurogentest is now building a next-generation sequencing (NGS) panel database with the aim of adapting the Clinical Utility Gene Cards (CUGC) into NGS technologies. In this database whose key function will be the quick identification of diagnostic options according to the different search terms: disease, gene, OM IM number, panel name, provider and Orpha number. It will include “NGS providers including panel name, tested genes and disease of interest” which will also facilitate determining overlab of tested genes by comparison. Eurogentest identified the NGS providers through a web search using the web search engine Google, focussing on European NGS providers initially. According to Eurogentest “as of October 11 2013, 25 identified laboratories have launched a total of 776 clinical NGS tests covering 2236 genes and 1114 diseases”. The list will be updated regularly a prototype of which is available on their website: Eurogentest website.
Rare diseases patients to benefit from modern genomics technology
The University of Cambridge, Genomics England and Illumina, announced the start of a three-year project that will sequence 10,000 whole genomes of children and adults with rare genetic diseases. The project represents a pilot for Genomics England, which will provide 2,000 samples, and marks the beginning of the national endeavour to sequence 100,000 genomes in the UK National Health Service (NHS), announced recently by the Prime Minister, David Cameron. To improve patient care in the UK National Health Service, the University of Cambridge will work with the team led by Dr. David Bentley, Vice President and Chief Scientist for Illumina, to develop the workflow and processes to bring routine clinical whole genome sequencing to the bedside. Illumina will deliver whole genome sequence data for the project using market-leading technology invented in Cambridge. This Rare Diseases Genomes Project aims to make the NHS a world leader in rare disease care and according to the University of Cambridge, the cumulative knowledge which will be gained from collecting this data will improve treatment for many patients in the NHS and across the world.
Other International News
Report on the First Ibero-American Congress on Rare Diseases held in Brazil
The First Ibero-American Congress on Rare Diseases (CIADR), organised by the Associação MariaVitoria (AMAVI) was held on 25 September 2013 in Brasília, Brazil. This event co-organised by the Centro de Estudos Sociais da Universidade de Coimbra-Portugal (Centre for Social Studies, University of Coimbra, Portugal), and supported by the Ministry of Health, national and international institutions, Pharmaceutical Companies , the University of Brasília, and other institutions. This event was the first of its kind in Brazil with more than 1,500 participants from all sectors including academia, governmental, industry and patient associations. The focal topic at this conference was the need to create public policies for a population that can reach up to 16 million Brazilian citizens.

A working group meeting took place after the CIADR meeting on October 25 2013 to discuss the creation of policy of care to benefit rare diseases patients. This meeting was attended by 30 stakeholders from different sectors. The working group expressed a deep interest in creating policy that will help creating reference centres for rare diseases. The working group also highlighted the many activities in the area of rare diseases that are underway in Brazil. Additionally, the Minister of Health is already committed to the creation of the Technical Group for Rare Diseases, which was finalised during the event of World Rare Disease Day on 2 February 2012, in Brasilia. AMAVI, promises to seek the necessary actions in the future that will contribute to integration of Brazil in more advanced discussions on rare diseases.
Go to the AMAVI website

2013 Rare & Orphan Advocacy & Research Awards

During the last World Orphan Drugs Congress held in Geneva (Switzerland) on 14-15 November 2013, Total Orphan Drugs announced the winners of this year’s ROAR (Rare & Orphan Advocacy & Research) Awards:

  • Best Contract Research Organisation – PSR-Agility Orphan Drug Development
  • Best European Market Access Programme – Evidera
  • Best European Industry-Patient Organisation Engagement – The DevelopAKUre Consortium (PSR Group, Cudos, Nordic Bioscience, SOBI and InstitutNecker ) and AKU Society
  • Best SME Biotech Pipeline – Prosensa
  • Best Biotech Pipeline – SOBI
  • Best Pharma Pipeline – Shire
  • Best European Orphan Drug Authorisation – Bosulif - Pfizer Ltd
  • 2013 European Leadership Award – SégolèneAymé, ORPHANET, EUCERD, IRDiRC

  • Our congratulations go to the winners!
    FDA awards USD 14 million to 15 rare disease projects

    The U.S. Food and Drug Administration today announced it has awarded 15 grants worth more than $14 million altogether which will aim to improve the course of development of products that will be valuable to patients with rare diseases. The grant applications were reviewed by a panel of outside experts with a comprehensive understanding in the disease-related fields that the grants were related to. These grants are administered through the FDA’s Orphan Products Grants Program. The grant recipients are available on the website.
    Get the list on awardees on the FDA website

    Guidance Documents and Recommendations
    Recommendation for standard of care for patients with sickle cell disease in Italy
    Sickle cell disease (SCD) is the most frequent hemoglobinopathy worldwide but remains a rare blood disorder in most western countries. Although recommendations for standard of care have been produced in regions which saw immigration from Africa, they are not feasible to be extrapotaled to the Italian context. Due to this, "the Italian Association of Pediatric Hematology Oncology (AIEOP) have attempted to develop a common national response to the rising number of SCD patients in Italy" which is presented in a paper published in the Orphanet Journal of Rare Diseases. According to the authors these guidelines were created with the help of 22 paediatric haematologists across Italy with the objective of "(creating) a national working group focused on pediatric SCD, and to develop tailored guidelines for the management of SCD that could be accessed and practiced by those involved in the care of children with SCD in Italy". According to the authors "providing haematologists, primary and secondary care physicians, and caregivers across the country with web-based guidelines for the management of SCD tailored to the Italian context is the first step in building a sustainable response to a rare but emerging childhood blood disorder"..
    Read the open access article

    Myelodysplastic syndromes: recommendations from the European LeukemiaNet for diagnosis and treatment in adults
    Consult the Pubmed abstract
    To read more about "Myelodysplastic syndromes"

    Blood ; 122(17):2943-64 ; October 2013
    ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
    Consult the Pubmed abstract
    Genetics in Medecine ; 15(11):901-909 ; September 2013
    Screening and Testing
    A Post-Hoc Comparison Exome Sequencing of the Utility of Sanger Sequencing and for the Diagnosis of Heterogeneous Diseases
    Massive parallel sequencing technology is swiftly altering the approaches employed for the genetic diagnosis and research of rare diseases that involve a large number of genes. However, so far it is not clear whether these strategies are indeed performing at a higher level than conventional single gene testing that is currently prescribed whose current yield depends on “a complex of factors that include gene-specific phenotype traits, and the relative frequency of the involvement of specific genes”. A recent article in Human Mutation gauges the impact of the paradigm shift that is occurring in molecular diagnostics. The authors assessed conventional Sanger-based sequencing and exome sequencing and then targeted bioinformatics analysis for five highly heterogeneous conditions. The authors found that exome sequencing has a much higher diagnostic yield than Sanger sequencing for deafness, blindness, mitochondrial disease, and movement disorders. However, for microsatellite-stable colorectal cancer, this was low under both strategies. The authors contend that “even if all genes that could have been ordered by physicians had been tested, the larger number of genes captured by the exome would still have led to a clearly superior diagnostic yield at a fraction of the cost”.
    Read the abstract


    Ethical, Legal & Social Issues
    A website is a beneficial complement for counselling mothers expecting a baby with severe congenital diaphragmatic hernia
    In a study published in Prenatal Diagnosis, the authors aimed to measure whether information on congenital diaphragmatic hernia (CDH) and foetal therapy for severe cases provided on a website is valuable compared with only clinical counseling of parents. This single center study consisted of 102 couples who earlier opted for foetoscopic endoluminal tracheal occlusion (FETO) because of isolated severe CDH. The authors asked the participants to fill an anonymised web-based survey of 12 questions after which they were asked to consult information on the web pages of the randomised Tracheal Occlusion to Accelerate Lung Growth (TOTAL) trial which was reevaluated a week later. The results revealed several items became “clear(er) to the parents after reading the website, such as the length of hospital stay, maternal risk, or the requirement of fetal anesthesia for FETO”. According to the authors, the results of the study show that information via website is indeed perceived as added value to prenatal counselling on CDH and FETO. In summary, the authors demonstrated that “specific aspects of maternal safety as well as foetal pain relief were underemphasised during the counselling sessions and/or were not well understood by the women to undergo FETO” which can be alleviated by adding the information on a website which an expectant parent is free to peruse.
    Consult the PubMed abstract

    Challenges notwithstanding, progress in drug development for rare mitochondrial disorders is possible
    A review published in Neurotherapeutics discusses the current challenges and progress in the field of drug development for rare mitochondrial disorders. The authors indicate that currently, all treatment of mitochondrial disorders is performed with dietary supplements or by off-label use of drugs approved for other indications. They believe that although there exists a body of knowledge that helps us understand these diseases, the challenge lies translating this information "into safe and effective therapies that are approved by the regulatory authorities". The authors recognise the efforts of the Food and Drug Administration that accept that trial designs for common diseases cannot be possible for rare disorders and encouraging drug companies, through their various programmes which do not compromise regulatory standards, to develop treatments for rare diseases. The authors maintain that with advances in technology, including "the use of biomarkers, replacement therapies and sophisticated trial designs, both biotechnology firms and, increasingly, large integrated pharmaceutical companies, are taking advantage of the opportunities in rare disorders". The authors also believe that “although there are no direct precedents for gaining regulatory approval for treatments of rare mitochondrial diseases, a wide variety of successful approvals for other orphan disorders, particularly those for other single-gene disorders, suggest that such approval can be attainable”.
    Consult the PubMed abstract


    EU Project Follow-up
    Launch of new EU-funded project on red blood cell diseases – a CoMMiTMenT
    The link between molecular causes and clinical symptoms in red blood cell diseases like sickle cell anaemia and thalassemia is still poorly understood and appropriate treatment is often ineffective or even lacking so far. As a consequence, there is a high demand for new tools for improved diagnosis and monitoring of disease progression. CoMMiTMenT, a newly funded EU research project will aim to develop reliable tools for scientific understanding, clinical diagnosis and therapeutic interventions in rare anaemia treatments. This innovative approach of the international research group, led by Dr Lars Kaestner, Head of the Centre for Molecular Imaging and Screening at Saarland University, is based on the combination of specific imaging technologies (molecular and functional imaging). In addition to collaborating with the European Network for Rare and Congenital Anaemias (ENERCA) and also contributes to the goal of the International Rare Diseases Research Consortium (IRDiRC) to deliver novel diagnostic modalities and 200 new therapies for rare diseases by 2020, a multidisciplinary consortium, which combines expertise from successfully operating, research-intensive small and medium sized enterprises and leading academic institutions will aid in implementing this project”. The consortium partners meet in Amsterdam/Ijmuiden on 9-10 October to officially kick off the project’s activities.
    Go to the CoMMiTMenT website

    SME-targeted Collaborative Project receives funding to study genetic links to treat bone diseases
    The European Commission has awarded over £10,000,000 (€12m) to SYBIL, a five year project involving 18 partners across Europe, which hopes to make breakthroughs in the treatment of bone diseases and Newcastle University (UK) will be leading this project to look at the genetic causes of hundreds of bone diseases. SYBIL will aim to find the genetic causes of both common and rare skeletal diseases by “using mouse models of 60 distinct genetic variants as well as pluripotent stem cells, zebrafish and conventional cell culture systems. Rare Skeletal Diseases (RSDs) primarily affect the developing skeleton and are considered a diverse and complex group of diseases with more than 450 conditions that differ in their range of severity. According to the SYBIL press release, “RSDs have an overall prevalence of at least 1 per 4,000 children, which extrapolates to a minimum of 225,000 people in the 27 member states and candidate countries of the EU”.
    Go to the SYBIL website


    New Syndromes

    New condition characterized by congenital microcephaly and a progressive form of encephalopathy due to recessive mutations in ASNS

    The authors analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. They showed that recessive mutations in the ASNS gene are responsible for this new syndrome.
    Consult the Pubmed abstract
    Neuron ; 80(2):429-41 ; October 2013
    Familial episodic pain caused by gain-of-function mutations in SCN11A

    The authors reported two large Chinese families with autosomal-dominant episodic pain. Their results suggest that gain-of-function mutations in SCN11A can be causative of that disorder.
    Consult the Pubmed abstract
    American Journal of Human Genetics ; 93(5):957-66 ; November 2013
    Brachydactyly type A1 and multiple synostoses syndrome 2 associated with a GDF5 mutation

    The authors reported on a family with an autosomal dominant inherited combination of multiple synostoses syndrome 2 and additional brachydactyly type A1 associated with a GDF5 mutation. Functional studies revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.
    Consult the Pubmed abstract
    PLos Genetics ; 9(10):e1003846 ; October 2013
    Novel syndrome of young onset diabetes, short stature and microcephaly with intellectual disability linked to TRMT10A deficiency

    The authors described a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability in a large consanguineous family with three affected children. Linkage analysis and whole exome sequencing were used to identify the causal nonsense mutation in TRMT10A.
    Consult the Pubmed abstract
    PLos Genetics ; 9(10):e1003888 ; October 2013
    Early-onset epileptic encephalopathy due to de novo mutations in SLC35A2

    The authors identified three de novo heterozygous mutations in SLC35A2 in patients with early-onset epileptic encephalopathy.
    Consult the Pubmed abstract
    Human Mutation ; 34(12):1708-14 ; December 2013

    New Genes

    Periventricular nodular heterotopias: identification of a de novo missense mutation in C6orf70
    Consult the Pubmed abstract
    To read more about "Periventricular nodular heterotopia"

    Brain ; 136(Pt 11):3378-94 ; November 2013
    Short rib-polydactyly syndrome type 3 and Jeune syndrome associated with WDRA34 mutations
    Consult the PubMed abstracts
    To read more about "Short rib-polydactyly syndrome, Verma-Naumoff type"
    To read more about "Jeune syndrome"

    American Journal of Human Genetics ; 93(5):926-31 ; November 2013
    American Journal of Human Genetics ; 93(5):932-44 ; November 2013
    Nagashima type palmoplantar keratoderma caused by mutations in SERPINB7
    Consult the Pubmed abstract
    To read more about "Palmoplantar keratoderma, Nagashima type"

    American Journal of Human Genetics ; 93(5):945-56 ; November 2013
    Channelopathy-associated congenital insensitivity to pain due to a de novo gain-of-function mutation in SCN11A
    Consult the Pubmed abstract
    To read more about "Channelopathy-associated congenital insensitivity to pain"

    Nature Genetics ; 45(11):1399-404 ; November 2013
    A fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome caused by de novo loss-of-function mutations in CHD2
    Consult the Pubmed abstract
    To read more about "Dravet syndrome"

    American Journal of Human Genetics ; 93(5):967-75 ; November 2013
    Distal spinal muscular atrophy with calf predominance due to a dominant mutation in FBXO38
    Consult the Pubmed abstract
    To read more about "Autosomal dominant distal hereditary motor neuropathy"

    American Journal of Human Genetics ; 93(5):976-83 ; November 2013
    Cerebro-facio-articular syndrome associated with mutations in DCHS1 and FAT4
    Consult the Pubmed abstract
    To read more about "Cerebro-facio-articular syndrome"

    Nature Genetics ; 45(11):1300-8 ; November 2013
    Autism spectrum disorder in four Prader-Willi patients with truncating mutations of MAGEL2
    Consult the Pubmed abstract
    To read more about "Prader-Willi syndrome"

    Nature Genetics ; 45(11):1405-8 ; November 2013
    Extended phenotype of an immunodeficiency syndrome with severe fungal infections associated with CARD9 deficiency
    Consult the Pubmed abstract
    The New England Journal of Medicine ; 369(18):1704-14 ; October 2013
    3C syndrome: identification of eight patients homozygous for a novel splice site mutation in KIAA0196
    Consult the Pubmed abstract
    To read more about "3C syndrome"

    Journal of Medical Genetics ; 50(12):819-22 ; December 2013
    Dominant maternally transmitted Silver-Russell syndrome caused by CDKN1C mutation
    Consult the Pubmed abstract
    To read more about "Silver-Russell syndrome"

    Journal of Medical Genetics ; 50(12):823-30 ; December 2013
    Two patients with combined OXPHOS deficiency associated with homozygous mutation in LYRM4
    Consult the Pubmed abstract
    Human Molecular Genetics ; 22(22):4460-73 ; November 2013
    Borjeson-Forssman-Lehmann syndrome, which might have been under-recognised and confused with Coffin-Siris syndrome, is linked to de novo defects in PHF6
    Consult the Pubmed abstract
    To read more about "Borjeson-Forssman-Lehmann syndrome"

    Journal of Medical Genetics ; 50(12):838-47 ; December 2013
    Coffin-Siris syndrome and intellectual deficit - sparse hair – brachydactyly due to mutations in SMARCE1 and ARID1B respectively
    Consult the PubMed abstracts
    To read more about "Coffin-Siris syndrome"
    To read more about "Intellectual deficit - sparse hair - brachydactyly"

    Human Molecular Genetics ; [Epub ahead of print] ; August 2013
    Human Mutation ; 34(11):1519-28 ; November 2013

    Research in Action

    Clinical Research
    Osteogenesis imperfecta: oral risedronate increases areal bone mineral density and reduces the risk of first and recurrent clinical fractures in children
    Consult the Pubmed abstract
    To read more about "Osteogenesis imperfecta"

    The Lancet ; 382(9902):1424-32 ; October 2013
    Fetal lower urinary tract obstruction: mixed results using a percutaneous vesicoamniotic shunting
    Consult the Pubmed abstract
    The Lancet ; 382(9903):1496-506 ; November 2013
    Childhood absence epilepsy: evidence that valproic acid is associated with more significant attentional dysfunction than ethosuximide or lamotrigine
    Consult the Pubmed abstract
    To read more about "Childhood absence epilepsy"

    Neurology ; 81(18):1572-80 ; October 2013
    Hidradenitis suppurativa: surgical excision followed by the elimination of the foods containing or made with the yeast resulted in a regression of the skin lesions within a year
    Consult the Pubmed abstract
    To read more about "Hidradenitis suppurativa"

    Surgery ; 154(5):1126-30 ; November 2013
    Blindness: current state of the art of retinal implants and outstanding questions
    Consult the Pubmed abstract
    Science Translational Medecine ; 5(210):210ps16 ; November 2013
    Non-Hodgkin lymphoma: early autologous stem-cell transplantation improved progression-free survival but did not improve overall survival after transplantation
    Consult the Pubmed abstract
    To read more about "Non-Hodgkin lymphoma"

    The New England Journal of Medicine ; 369(18):1681-90 ; October 2013
    Chronic myeloid leukemia and acute lymphoblastic leukemia: significant antileukemic activity of ponatinib in a phase 2 trial
    Consult the Pubmed abstract
    Consult this study on Orphanet

    To read more about "Chronic myeloid leukemia"
    To read more about "Acute lymphoblastic leukemia"

    The New England Journal of Medicine ; 369(19):1783-96 ; November 2013
    Aicardi-Goutières syndrome is associated with an interferon signature which can be used to differentiate patients from controls
    Consult the Pubmed abstract
    To read more about "Aicardi-Goutières syndrome"

    Lancet Neurology ; 12(12):1159-69 ; December 2013
    Pediatric catastrophic antiphospholipid syndrome: a descriptive analysis of 45 patients from the « CAPS Registry »
    Consult the Pubmed abstract
    To read more about "Antiphospholipid syndrome"

    Autoimmune Reviews ; [Epub ahead of print] ; October 2013
    Noonan syndrome and Noonan-related syndromes: the association of two rare diseases in eight patients suggests that it may be associated with systemic lupus erythematosus
    Consult the Pubmed abstract
    To read more about "Noonan syndrome"
    To read more about "Noonan syndrome-like disorder with loose anagen hair"

    JAMA Neurology ; [Epub ahead of print] ; September 2013
    Stem Cells

    Mucopolysaccharidosis type 7: transplantation of human umbilical mesenchymal stem cells cures the corneal defects in mice
    Consult the Pubmed abstract
    To read more about "Mucopolysaccharidosis type 7"

    Stem Cells ; 31(10):2116-26 ; October 2013
    Gene Therapy
    Familial isolated hypertrophic cardiomyopathy is suppressed with the allele-specific silencing of mutant Myh6 transcripts in mice
    Consult the Pubmed abstract
    To read more about "Familial isolated hypertrophic cardiomyopathy"

    Science ; 342(6154):111-4 ; October 2013
    Cystic fibrosis: in Xenopus oocytes, RNA editing can correct transmembrane conductance regulator mRNA, restore full length protein, and reestablish functional chloride currents
    Consult the Pubmed abstract
    To read more about "Cystic fibrosis"

    Stem Cells ; 31(10):2116-26 ; October 2013
    Therapeutic Approaches

    Congenital erythropoietic porphyria: treatment with bortezomib reduced porphyrin accumulation as well as reversion of skin photosensitivity
    Consult the Pubmed abstract
    To read more about "Congenital erythropoietic porphyria"

    Proceedings of the National Academy of Sciences of the United States of America ; 110(45):18238-43 ; November 2013
    Glioblastoma: new therapeutic opportunities with the coordinate activation of Shh and PI3K signaling and with the use of spherical nucleic acid nanoparticles
    Consult the PubMed abstracts
    To read more about "Glioblastoma"

    Nature Medecine ; 19(11):1518-23 ; November 2013
    Science Translational Medecine ; 5(209):209ra152 ; October 2013
    Roberts syndrome can be attributed in part to defects in ribosome biogenesis and in stimulation of the TOR pathway
    Consult the Pubmed abstract
    To read more about "Roberts syndrome"

    PLos Genetics ; 9(10):e1003857 ; October 2013
    Neurofibromatosis type 1: evidence for targeting the MAPK pathway to improve bone mass and treat pseudoarthrosis
    Consult the Pubmed abstract
    To read more about "Neurofibromatosis type 1"

    Human Molecular Genetics ; 22(23):4818-28 ; December 2013

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

    The Lancet ; 382(9902):1433-44 ; October 2013
    Primary sclerosing cholangitis: a review
    Consult the Pubmed abstract
    To read more about "Primary sclerosing cholangitis"

    The Lancet ; 382(9904):1587-9 ; November 2013
    Inclusion body myositis: update on the natural history, cause, treatment, and serum and imaging biomarkers
    Consult the Pubmed abstract
    To read more about "Inclusion body myositis"

    Current Opinion in Rheumatology ; 25(6):763-71 ; November 2013
    Acute motor axonal neuropathy: review on concepts and controversies
    Consult the Pubmed abstract
    To read more about "Acute motor axonal neuropathy"

    Lancet Neurology ; 12(12):1180-8 ; December 2013
    Intestinal polyposis syndromes: review on the growing complexity
    Consult the Pubmed abstract
    To read more about "Familial adenomatous polyposis"
    To read more about "Peutz-Jeghers syndrome"
    To read more about "Juvenile polyposis syndrome"
    To read more about "Bannayan-Riley-Ruvalcaba syndrome"
    To read more about "Hereditary mixed polyposis syndrome"
    To read more about "Hyperplastic polyposis syndrome"
    To read more about "APC-related attenuated familial adenomatous polyposis"
    To read more about "MUTYH-related attenuated familial adenomatous polyposis"

    American Journal of Medical Genetics - Part A ; 161(11):2777-87 ; November 2013
    Primary leptomeningeal central nervous system lymphoma: International Primary Central Nervous System Lymphoma Collaborative Group report
    Consult the Pubmed abstract
    To read more about "Primary central nervous system lymphoma"

    Neurology ; 81(19):1690-6 ; November 2013
    PTEN hamartoma tumor syndrome in childhood: description of two cases and a proposal for follow-up protocol
    Consult the Pubmed abstract
    To read more about "PTEN hamartoma tumor syndrome"

    American Journal of Medical Genetics - Part A ; 161(11):2902-8 ; November 2013
    Neonatal diabetes mellitus is associated with neuropsychological dysfunction and developmental defects that are specific to the underlying genetic abnormalities
    Consult the abstract
    To read more about "Neonatal diabetes mellitus"

    The Lancet Diabetes & Endocrinology ; 1(3):199-207 ; November 2013
    Special issue of Rheumatic Disease Clinics of North America on rheumatic rare diseases
    Consult the issue
    Rheumatic Disease Clinics of North America ; 39(2):245-514 ; May 2013

    Orphan Drugs
    Suspension of leukemia drug Iclusig due to serious danger of blood clots
    Sales of a leukemia drug, Iclusig, are being suspended due to the FDAs concern of “the risk of life threatening blood clots and severe narrowing of blood vessels,”. The drug, also known as ponatinib, has been linked to severe and sometimes fatal heart attacks and strokes, blindness and loss of blood flow in the extremities serious enough to require amputation which in some cases maybe observed 2 weeks into the drug regime.

    Iclusig was approved less than a year ago to treat chronic myeloid leukemia and although the risk of blood clots was known, these side effects were exponentially worse than what was observed in the clinical trials. However, the drug is not being permanently withdrawn as the FDA may work with the company to try to identify certain types of patients who might still benefit from the drug. FDA has reported that because chronic myeloid leukemia can be fatal, and Iclusig may be able to keep some people alive when nothing else works, patients who wish to keep taking the drug can continue to do so. Also noteworthy is that the European Medicines Agency has not taken any steps to suspend or withdraw the drug.
    Go to the Iclusig website

    Could gene therapy hold the promise of new treatment options for inherited monogenic diseases?
    Due to the key developments in the field of gene therapy research, viral vectors from adenoviruses, to lentiviruses and adeno-associated viruses have greatly improved in their ability to deliver genes in association with key regulatory elements. In a review published in European Journal of Internal Medicine, the authors systematically reviewed the literature using PubMed.gov with keyword gene therapy from 1972 to March 2013 and Google search with key word gene therapy. From the literature analysis they found that advancement in gene therapy for monogenic diseases as not stopped despite earl setbacks. The authors have reviewed these advancements and believe that the questions that remain to be answered to make gene therapy an integral part of our therapeutic arsenal. They authors claim that “early clinical developments were challenged by safety problems that are now well understood and can be prevented” and has led to successful therapeutic approaches in multiple monogenic diseases, such as severe combined immunodeficiencies and haemophilia B. Finally the authors state that in 2012, the first gene therapy has been approved in Europe for the treatment of for the treatment of lipoprotein lipase deficiency and according to them, brings some hope of future achievements.
    Image courtesy: Maria Kuzma-Kuzniarska (mybioscience)
    Consult the PubMed abstract



    SMA Europe announces its 6th international Call for SMA Research Projects
    This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The overall goal of SMA Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments. For more information please visit the SMA Europe web site
    Call for research proposal in Lowe syndrome
    Lowe Syndrome Trust invites applications for research funding for Lowe Syndrome. The genetic basis for Lowe Syndrome is a defective gene OCRL1 that results in the deficiency of an enzyme Phosphatidylinositol 4,5-bisphosphate-5-phosphatase (OCRL1). Lowe’s oculocerebrorenal syndrome is a disorder affecting the brain, eyes, kidneys and bones. Research funds are available of up to £100,000 in the first instance, for funding a research studentship or assistant in understanding how the enzyme deficiency leads to observed phenotype.
    Previous Lowe grant recipients are also invited to apply for a continuation grant.
    For further information and Application Form please contact
    Lorraine Thomas, Lowe Syndrome Trust
    Telephone 0207 794 8858
    or download an application form via website www.lowetrust.com
    email: lowetrust@gmail.com
    Closing date for applications 29 November 2013

    Rare Diseases Foundation's call for projects launches and supports a key step in the development of treatments for people with rare diseases
    The Rare Disease Foundation is pleased to announce the launch of the call for projects "high throughput screening of molecules with therapeutic potential & rare diseases." She supports the project of French research teams by facilitating their access to technology at the highest level: the high-throughput screening. The high throughput screening allows, thanks to automation testing and analysis, identify very quickly from a large number of chemical compounds, those who may have an interest in the composition of a future drug. This call for proposals is in the will of the few to accelerate the development of treatments for the benefit of people with rare diseases. For teams interested, all the elements to respond to this call for proposals are available in "professional access" under "Landscape Financing" tab "Foundation rare diseases". Letters of Intent must be submitted no later than Thursday November 28, 2013 by e-mail at: criblage_preclinique@fondation-maladiesrares.com
    Myotubular Trust - Sixth call for projects (open to international applications)
    The Myotubular Trust is holding a sixth call for research projects. The trust is looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources. This call will be open to research bodies internationally.

    The Myotubular Trust will be looking for the following types of application:
    1. A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post Doctoral researcher, or PHD student.
    2. A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual.
    In particular the trust would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. The trust is also willing to consider applications which involve joint funding with other organisations. Click here for more information or email research@myotubulartrust.org
    Application deadline: Friday 17th January 2014.


    Courses & Educational Initiatives
    1st Asia Pacific Inborn Errors of Metabolism course
    Date: 09-11 January 2014
    Venue: Tokyo, Japan

    The 1st Asia Pacific Inborn Errors of Metabolism course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems For more information and to register (before November 20th), please visit www.orphan-europe-academy.com

    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
    Workshop: Implementation of clinical genetic databases
    Date: 17th December 2013
    Venue: Manchester, UK

    This workshop will provide training for current and future implementers of accessible or shared databases for collection of actionable clinical genotype and phenotype data. Training will cover:
    • Tools and resources used in the process of creating and running a database
    • Standards important for databasing
    • Strategies for successful planning and implementation of a database project
    The workshop will include practical computer-based training and group exercises to explore the resources available and the issues relating to sustainable database implementation.
    Contact kathryn.robertson@cmft.nhs.uk to register your interest.
    More information can be found on the EuroGentest website (click here).


    What's on Where?

    The International GSD Conference 2013
    Date: 28-30 November 2014
    Venue: Heidelberg, Germany

    The International GSD Conference 2013 (IGSD13) is a scientific conference for all types of glycogen storage disease (GSD). IGSD13 is organised by the German GSD Patients Support Group, the scientific program is put together by an international advisory committee; the conference is CME accredited (Germany, Europe). The conference is open for the participation of patient association representatives and individual patients and will include contributions from patients.
    For further information

    EUROPLAN National Conferences Serbia
    Date: 5-6 December 2013
    Venue: Belgrade, Serbia

    Organised by NORBS; Serbian National Organization for Rare Diseases
    For further details go to www.norbs.rs

    EUROPLAN National Conferences France
    Date: 13 January 2014
    Venue: Paris, France

    Organised by Alliance Maladies Rares
    For further details go to www.alliance-maladies-rares.org

    EUROPLAN National Conferences Spain
    Date: 24 January 2014
    Venue: Burgos, Spain

    Organised by FEDER; the Spanish Alliance for Rare Diseases
    For further details go to www.enfermedades-raras.org

    EUROPLAN National Conferences Ireland
    Date: February 2014
    Venue: Dublin, Ireland

    Organised by GRDO, Genetic and Rare Disorders Organisation
    For further details go to www.grdo.ie

    EUROPLAN National Conferences Belgium
    Date: 28 February 2014
    Venue: Brussels, Belgium

    Organised by Belgian National Alliance for Rare Diseases
    For further details go to radiorg.be

    RE(ACT) Congress: 2nd International congress on research of rare and orphan diseases
    Date: 5-8March 2014
    Venue: Basel, Switzerland

    The conference sessions will explore issues and cutting-edge technologies that affect many adult and paediatric conditions. The following topics are to be discussed include Stem cell and cell therapy approaches, mapping diseases and genome instability, pathophysiology and diagnostics, bringing treatments to the clinic, degenerative disorders and research and patients.
    For further information

    19th Congress of the European Association of Hospital Pharmacists
    Date: 26-28 March 2014
    Venue: Barcelona, Spain

    For further details

    The 9th International Congress on Autoimmunity
    Date: 26-30 March 2014
    Venue: Nice, France

    This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
    For further details

    2014 Lymphangioleiomyomatosis International Research Conference
    Date: 28-30 March 2014
    Venue: Chicago, USA

    The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference.
    For further details

    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 European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support.
    For further details
    13th International Congress on Neuromuscular Diseases - ICNMD 2014
    Date: 5-11 June 2014
    Venue: Marseille, France

    The XIII ICNMD is a unique opportunity, where on a 4 years basis, experts 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

    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

    Commercial events

    2nd Orphan Drugs Research & Commercialization Conference
    Date: 20-21 February 2014
    Venue: San Diego, US

    This meeting provides a forum for all stakeholders, from researchers, industry leaders, patient advocacy organizations, and regulatory experts to gather and share different perspectives on how to best guide the field forward. The program will include presentations on the latest scientific research, such as RNAi therapeutics and gene therapy; pricing and reimbursement challenges; clinical endpoints; and much more.
    For Further Information


    Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews International 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

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

    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)
    For more information on the European Union Committee of Experts on Rare Diseases
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    Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)