1 August 2015 print
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Commission convenes 2nd conference on European Reference Networks in Lisbon: registration now open

According to Directive 2011/24/EU on the application of patients' rights in cross-border healthcare, the establishment of a system of European Reference Networks (ERN) is crucial to provide expertise for high quality and affordable treatment to patients in Europe. The establishment of European Reference Networks is especially significant and momentous for rare disease patients across Europe as they will now have the possibility to access resources that may not be available within the confines of their countries. The establishment of ERNs also require a great deal of cooperative and collaborative effort across Europe. The legal framework was put into action on 27 May 2014 by the Commission, DG SANTE organised a successful conference on European Reference Network on 23rd of June in Brussels to address the organisation of these specialised networks where several eminent stakeholders gathered to devise, deliberate and prepare for the present and future of European Reference Networks and address the forthcoming call for European Reference Networks in 2015.

The European Commission is now organising a 2nd conference on European Reference Networks on 8-9 October 2015, which will be hosted by the Ministry of Health in Lisbon, Portugal. Included as an event in the Luxemburgish Council Presidency programme, this conference will bring together highly specialised healthcare providers, experts, national authorities, decision–makers, and independent bodies with experience in the assessment and evaluation of healthcare providers.

The conference will focus on the implementation of European Reference Networks and facilitate the exchange of information and expertise on establishing and evaluating such Networks. It will look into the next steps of the deployment process, in preparation for the forthcoming call for European Reference Networks in 2016. This event builds on the success of the 1st conference on European Reference Networks which took place in Brussels on 23 June 23 2014.

Access information here (Registration is free).

EC Expert Group
OrphaNews International will be back in early September. We take this opportunity to wish all our readers a pleasant and relaxing summer.


Spotlight on...
Centers of Mendelian Genomics: story so far…
A review detailing the efforts of the Centers for Mendelian Genomics (CMGs) established by the National Institute of Health in 2011 is published in the Americal Journal of Human Genetics.

The authors point out that even though the genes underlying ~50% of all known Mendelian phenotypes have been discovered, many more Mendelian conditions remain unrecognised. The paper demonstrates CMGs’ work towards closing this formidable gap by providing a “collaborative framework and infrastructure necessary for undertaking large-scale whole-exome sequencing and discovery of the genetic variants responsible for Mendelian phenotypes.” The specific goals of the CMGs were as follows

“(1) assess the genetic basis of~1,000 Mendelian phenotypes in collaboration with investigators worldwide;
(2) develop new methods and approaches for discovering the genetic basis of Mendelian phenotypes;
(3) generate public resources that can be leveraged by the biomedical community to facilitate investigator-initiated gene-discovery efforts, studies of gene function, and clinical translation and interpretation of human genome variation; and
(4) lead and coordinate US efforts with other large-scale projects aimed at discovering genes implicated in Mendelian phenotypes.”

CMGs initiated a multiple national efforts to establish this framework and provided the infrastructure necessary for this undertaking. According to the authors the CMGs collectively worked with 529 investigators representing 261 institutions in 36 countries to collect and sequence 16,226 exomes and 96 genomes from a cohort of 8,838 families. The collaborators included the NHGRI- and NHLBI supported Centers for Mendelian Genomics (CMGs), Finding of Rare Disease Genes (FORGE) Canada, and the Wellcome Trust Deciphering Developmental Disabilities (WTDDD).

Analyses of these data have resulted in 956 discoveries which included phenotype expansion, discovery of known and novel gene with corresponding known or novel mendelian phenotype. Several analytical tools such as PhenoDB, CADD, PRIMUS, GeneMatcher, Geno MP, ALOFT as well as technological methods like MIPs, smMIPs, low input-exomes/genomes were developed by the CMGs. According to the authors these discovered and developments have led to the publication of 146manuscripts.
Consult the Pubmed abstract


National & International Policy Developments
Other European news
Report on the implementation of the second Programme of Community action in the field of health in 2013
The Second Programme of Community Action in the Field of Health 2008-2013 came into force from 1 January 2008.This follows the first Programme of Community action in the field of public health (2003-2008), which financed over 300 projects, and other actions. The objectives of this programme aligned future health action with the overall Community objectives of prosperity, solidarity and security.

The programme, with a total budget of EUR 321 500000, provided a wide range of funding instruments in order to achieve its objectives. The Second Health Programme was the main instrument to implement the EU Health Strategy, and contributed to achieving the EU 2020 objectives on smart and sustainable growth. Actions were funded in support of the Commission strategy on, ‘Solidarity in Health: Reducing Health Inequalities in the EU’, and on cross-border health threats and patients’ rights in cross-border healthcare. Project grants were awarded to projects involving several partners, usually public health bodies and non-governmental organisations (NGOs).

In the field of rare diseases operating grants were provided to Institut National de la Santé et la Recherche Médicale (INSERM), to host the ORPHANET network and University of Ulster, to support the EUROCAT-network on congenital anomalies. While renewals were provided to the European Organisation for Rare Diseases (EURORDIS). Additionally, administrative agreement with the Joint Researh Centre to set up a sustainable platform to coordinate and maintain registries and networks on rare diseases' and the projects 'European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment' (ExPO-r-NeT) on rare paediatric cancers and the 'Mesothelioma Information Network in Europe' (MINE).
Read the report

Other International News
Genetic Alliance’s PEER Registry Recognized at White House PMI Event
The award winning Platform for Engaging Everyone Responsibly registry (PEER), developed by Genetic Alliance and Private Access, was showcased at the White House Champions for Change Celebration. PEER differs from traditional registry systems in that it lets participants dynamically control how much information they wish to share, with whom they elect to share it, and for what purpose. These tools have set PEER apart by putting granular and dynamic information control in the hands of patients, participants, and their authorized representatives.

During the event Genetic Alliance president and CEO, Sharon Terry, announced that the registry has newly added the capability for individuals to directly upload data from their Electronic Health Record systems in the United States into PEER. She added that the group plans to begin deploying this in both existing and slated PEER Community releases over the next few weeks. Cerner Corp. and the National Association for Trusted Exchange assisted in adding PEER’s new clinical data acceptance capabilities – PEER can now accept coded, clinical, Direct compliant data. Consistent with Meaningful Use, participants can securely send this information directly to PEER from their patient (PHR) portals, or can instruct their providers to transmit this information on their behalf. PEER’s systems will automatically route data into each individual’s record, where it will be governed by the individual’s personal privacy preferences.
For more information visit the PEER website.

Progress in genomic medicine from resource-limited countries
Authors in an article published in Human Genomics present and critically discuss examples from the successful translation of genomics into genomic medicine in resource-limited countries. They focus the on pharmacogenomics, genome informatics, and public health genomics. They describe the Euro-PGx Project, which is a European-wide pharmacogenomics map that aims to determine the varying pharmacogenomic biomarkers allele frequencies in a large number of mostly developing European countries in an effort to produce drug dose recommendations for different countries. This project according the authors has helped the Serbian population and is planned for expansion in other developing European countries. The authors note that the DruGeVar database, an online knowledge portal for clinical pharmacogenomics which triangulates drugs with genes and pharmacogenomic biomarkers, has been important. The authors also detail notable examples such as the “pharmacogenomics” wallet card in Thailand, initiatives in Latin America like the MESTIFAR project, programmes in Africa to determine genetic variants for HIV and the projects in the middle east to integrate pharmacogenomics information for chemotherapeutic agents as some of the success stories.
Consult the Pubmed abstract

National Organization of Rare Diseases: Rare action network
National Organization of Rare Diseases (NORD) has unveiled the Rare Action Network - an advocacy network that serves as a broad spectrum of stakeholders ranging from patients, to their families, caregivers, and friends, researchers, industry representatives, physicians and academia. While working predominantly at the state level, the network will filter information up to NORD’s national federal policy team to help address issues of national concern. Among other benefits, this expansive network will enable connecting patients, caregivers, and stakeholders, participate in regional and local events, learn and address the nation’s leading issues and develop relationships with key decision-makers and opinion leaders.
Learn more about the Rare Action Network

An effort to coalesce global leaders for worldwide implementation of genomic medicine
A host of ongoing efforts exist worldwide to establish national implementation strategies for genomic medicine, but many such efforts are being conducted in relative isolation.In lieu of the innovative genomic-medicine programs around the world capitalising on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens an article published in Science Translational Medicine describes the benefit of coalescing groups around concrete and compelling signature projects.

The authors illustrates how the U.S. National Human Genome Research Institute and the National Academy of Medicine recently convened 90 leaders in genomic medicine from the United States and 25 other countries on five continents for a Global Leaders in Genomic Medicine symposium in 2014. This convention identified barriers to implementation of genomic medicine as well as opportunities for international collaborations. They also assert that systematic mapping of ongoing implementation projects worldwide and an inventory of available evidence and evidence-generation projects will help to define gaps and reveal how a particular group can best interact with existing efforts. Finally, the authors believe that the wealth of international programs actively engaged in genomic-medicine implementation and the potential for synergy and collaboration among them present exciting opportunities for speeding knowledge generation and improving patient care.
Consult the Pubmed abstract

Guidance Documents and Recommendations
IgG4-related diseases: international recommendations on the management and treatment
Consult the Pubmed abstract
Arthritis Rheumatol. ; 67(7):1688-99 ; July 2015
Primary central nervous system lymphoma: guidelines on diagnosis and treatment
Consult the Pubmed abstract
To read more about "Primary central nervous system lymphoma"

Lancet Oncol. ; 16(7):e322-32 ; July 2015
Screening and Testing
Evaluation of the diagnostic methods of amyotrophic lateral sclerosis
Clinical diagnosis of amyotrophic lateral sclerosis (ALS) is based on the differential diagnosis of the diseases. Currently there are no specific recommendations for the requisite diagnostic tests for ALS.

An article in Muscle & Nerve reports that 75% of physicians often or always ordered a control test of serum creatine kinase, electrolytes, and a test of thyroid function as a diagnostic test for ALS. They also found that less than 25% of physicians test their patients for serum complement, hexosaminidase A, spinal muscular atrophy, Kennedy's disease, heavy metals, or the virus of human T-cell lymphoma. The authors believe that these diagnostic decisions were taken with the financial burden of the tests in mind. They emphasise that an order of 21 diagnostic tests would cost USD 6,333 in the clinical laboratory of the University of Ohio (USD 302 per test on an average). Ordering electrolytes, a test control in serum creatine kinase, and a test of thyroid function, the 3 tests with a positive consensus in this survey, would cost $ 632 ($ 211 per test average). In contrast, 6 tests have had a negative consensus are among the most expensive testing of the survey, with an average cost of $ 428 per test.

In conclusion, there is a lack of consensus among physicians surveyed for laboratory evaluation of a suspected ALS. Prospective studies are needed to define the diagnostic yield and cost-effectiveness of diagnostic laboratory tests in this population.
Access the article

A framework to choose a cost effective assay for researchers conducting research in rare diseases
Due to the high cost of high throughput assays studies are limited not so much by the number of subjects available as by assay prices, making assay choice a critical issue. Authors of an article published in Orphanet Journal of Rare Diseases describe a framework for assay choice that maximises the number of true disease causing mechanisms ‘seen’, given limited resources.According illustrate their straightforward yet counter-intuitive framework with examples, with further information on their website.
Read the open access article


Ethical, Legal & Social Issues
Individual DNA samples and health information sold by commercial diagnostic test provider 23andMe
23andMe is a company that provides genetic diagnostic tests who demand that customers agree to 23andMe’s terms of service, that states the genetic information and self-reported health information of customers may be shared. However, an article published in Genetics in Medicine express concern over a deal of 23andMe and Genentech in which entire genomes of 23andMe customers can be shared. Also additional testing will be done on patient DNA samples stored by 23andMe after completion of their SNP testing, without the expressed consent of the patients.

The authors question “if individuals will be offered the option of receiving results and appropriate genetic counselling regarding high-penetrance, Mendelian, Parkinson disease–related variants discovered through sequencing their DNA.” Another issue raised by the article is related to the ethical concerns revolving informed consent for whole Genome Sequencing, as it pertains to “incidental findings, privacy, autonomy, and implications for other (untested) family members.” Additionally, the authors also fear the possibility of privacy violations as unauthorised re-identification of an individual from “de-identified” DNA sequence data is a likelihood. Lastly, the authors also query whether the “genomic and phenotypic data collected from this project will be made available to other researchers and to assist in the clinical diagnosis of other patients.”
Access the article

View of rare disease patients and families on data sharing
A study published in the European Journal of Human Genetics aimed “to optimize the information and consent process to meet participants’ expectations against the background of the LeukoTreat project database.”

The authors observe that the patients/families willing engaged in data sharing, which they believed was a collective and an altruistic mission. The authors also report that the participants have a high level of trust in the constitution and use of the database by researchers but were equally vigilant over the conditions use of the database. They wanted to be assured of compliance with the constitution and initial consent. The authors write that they also wanted to be kept abreast with current information especially with regard to potential partnership with the pharmaceutical industry for access to the database. The authors report the reluctance of respondents with pharmaceutical partnerships, “even though they recognize that such a partnership are valuable for therapeutic advance”, expressing concerns over their motive to work for profit rather than for the benefit of the patients.

The participants also raised concerns over “transparency on data storage and the length of data accessibility (even as) most respondents agree on no time limitation, as they feel that the data are precious, especially in their context of rare disease.” From the responses received during the study, the authors advocate broad consent, which makes it possible “to promote the development of research in a large and pre-defined field, avoiding the need to re-consent.”
Consult the Pubmed abstract

Training for physicians specialising in rare diseases and the role of residents as cyberconsults
An article published in Annals of Neurology elucidates the obstacles faced by physicians who are trying to develop clinical expertise in a rare disease and how cyberconsulting might pose favourable solution for many doctors as well as patients. The authors highlight the dearth of patients and competition from physicians of other sub specialties and lack of funding resources as the main limiting and time-consuming factors towards gaining expertise in the area of rare diseases for physicians. However, the authors believe that after the initial years of legwork and struggle, the physicians are rewarded well as they are recognised as specialists – who are rare – in their field.

They can begin to train residents, who seldom have an interest in a single disease; instead, they are attracted to a particular sub-specialty but are on the front lines of helping patients. Since these patients can be from around the world who ask for advice on cases via email or telephone, the authors illustrate the importance of training these residents to be “cyberconsults”. In this article they provide an example of cyberconsults in Progressive Multifocal Leukoencephalopathy discuss how such opportunities can help train neurology specialists in rare diseases and how they inform us about the ethical and legal considerations surrounding the use of such remote-access technology inpatient care.
Access the article


New Syndromes

Early onset hypotonia, dyskinesia, sensorial deficiencies and mitochondrial complex I instability due to a germinal mutation in NDUFA13
The authors described a syndrome characterized by early onset hypotonia, dyskinesia and sensorial deficiencies, including a severe optic neuropathy, in two sisters. They identified a correlation between a germinal pathogenic mutation in the NDUFA13 gene, which induces mitochondrial complex I instability and a severe but slowly evolving clinical presentation affecting the central nervous system.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(14):3948-55 ; July 2015
15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuropsychiatric phenotypes
The authors presented a female patient with developmental delay in whom they identified a maternally inherited duplication in chromosome region 15q11.2 encompassing only the UBE3A gene. They further tested segregation of this duplication in four generations and found it segregated with a characteristic phenotype defined by infantile osteopetrosis, developmental delay and neuropsychiatric disorders such as intellectual deficit, autistic features or schizophrenia.
Consult the Pubmed abstract

Hum Mutat. ; 36(7):689-93 ; July 2015
Orofacial clefting and abnormal jaw development associated with DLX4 mutation
The authors used exome sequencing to study a patient with bilateral cleft lip and/or palate. They identified a deletion in the DLX4 gene in the patient and her similarly affected son.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(15):4340-52 ; August 2015

New Genes

Benign familial chorea caused by ADCY5 mutations
Consult the Pubmed abstract
To read more about "Benign familial chorea"

Neurology ; 85(1):80-8 ; July 2015
Silver-Russell syndrome-compatible phenotype due to epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients
Consult the Pubmed abstract
To read more about "Silver-Russell syndrome"

Eur J Hum Genet. ; 23(8):1062-7 ; August 2015
Retinitis pigmentosa linked to ZNF408 homozygous mutation in a Spanish family
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Hum Mol Genet. ; 24(14):4037-48 ; July 2015
A hereditary form of small intestinal carcinoid associated with a germline mutation in IPMK
Consult the Pubmed abstract
Gastroenterology ; 149(1):67-78 ; July 2015
Severe human neural tube defects: SHROOM3, GRHL3, PTPRS and PAX3 loss-of-function de novo mutations play an important role
Consult the Pubmed abstract
To read more about "Neural tube defect"

J Med Genet. ; 52(7):493-7 ; July 2015
Mesomelic dysplasia, Savarirayan type, might be linked to ID4, MBOAT1, CDKAL1, SOX4 and E2F3 deletions
Consult the Pubmed abstract
To read more about "Mesomelic dysplasia, Savarirayan type"

J Med Genet. ; 52(7):476-83 ; July 2015

Research in Action
Clinical Research
Cystic fibrosis: monthly application of the pGM169/GL67A gene therapy formulation is associated with a modest but significant improvement of lung function
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Cystic fibrosis"

Lancet Respir Med. ; S2213-2600(15)00245-3 ; July 2015Lancet Respir Med. ; S2213-2600(15)00245-3 ; July 2015
Catecholaminergic polymorphic ventricular tachycardia: left cardiac sympathetic denervation is an effective antifibrillatory intervention
Consult the Pubmed abstract
To read more about "Catecholaminergic polymorphic ventricular tachycardia"

Circulation ; 131(25):2185-93 ; June 2015
Hypogonadotropic hypogonadism: GnRH is superior to human chorionic gonadotrophin in adolescent boys
Consult the Pubmed abstract
J Clin Endocrinol Metab. ; 100(7):2793-9 ; July 2015
Depletion of naive T cells from stem cell allografts reduces the incidence of graft versus host disease in acute leukemia patients
Consult the Pubmed abstract
To read more about "Graft versus host disease"

J Clin Invest. ; 125(7):2677-89 ; July 2015
Acute myeloid leukemia: unmanipulated haploidentical hematopoietic stem cell transplantation achieves similar outcomes than identical sibling donor transplantation
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Blood ; 125(25):3956-62 ; June 2015
Childhood-onset systemic necrotizing vasculitides: data from the French vasculitis registry
Consult the Pubmed abstract
To read more about "Anti-neutrophil cytoplasmic antibody-associated vasculitis"
To read more about "Pediatric polyarteritis nodosa"

Arthritis Rheumatol. ; 67(7):1959-65 ; July 2015
Infantile osteopetrosis: hematopoietic stem cell transplantation
Consult the Pubmed abstract
To read more about "Osteopetrosis"

Blood ; 126(2):270-6 ; July 2015
Therapeutic Approaches

Pulmonary arterial hypertension: administration of BMP9, the preferred ligand for preventing apoptosis and enhancing monolayer integrity, reverses the disease in mice
Consult the Pubmed abstract
To read more about "Pulmonary arterial hypertension"

Nat Med. ; 21(7):777-85 ; July 2015
Pseudoachondroplasia: antioxidant and anti-inflammatory agents such as aspirine or resveratrol mitigate the pathology in a mouse model
Consult the Pubmed abstract
To read more about "Pseudoachondroplasia"

Hum Mol Genet. ; 24(14):3918-28 ; July 2015
Duchenne muscular dystrophy: daily dosing of SMT022357, a second-generation compound, leads to increased utrophin expression in skeletal, respiratory and cardiac muscles of mice
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet. ; 24(15):4212-24 ; August 2015
Systemic sclerosis: pantethine prevents the disease through the inhibition of microparticle shedding in mice
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Arthritis Rheumatol. ; 67(7):1881-90 ; July 2015
GM1 gangliosidosis: systemic adeno-associated virus 9 gene transfer in adult mice reduces lysosomal storage in central nervous system and extends lifespan
Consult the Pubmed abstract
To read more about "GM1 gangliosidosis"

Hum Mol Genet. ; 24(15):4353-64 ; August 2015
Retinitis pigmentosa: eyes of mice treated with a single injection of mouse or human RPGR-ORF15 vector at an optimal dose show preservation of retinal structure and function
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Hum Mol Genet. ; 24(14):3956-70 ; July 2015
X-linked retinoschisis: therapeutic repair in adult mouse by adeno-associated virus type 8-RS1 transfer
Consult the Pubmed abstract
To read more about "X-linked retinoschisis"

J Clin Invest. ; 125(7):2891-903 ; July 2015
T-cell prolymphocytic leukemia: PD-L1-blocking antibodies prevent immune dysfunction and leukemia development in a mouse model
Consult the Pubmed abstract
To read more about "T-cell prolymphocytic leukemia"

Blood ; 126(2):203-11 ; July 2015
Joubert syndrome: novel JBTS17 mutant mouse model
Consult the Pubmed abstract
To read more about "Joubert syndrome"

Hum Mol Genet. ; 24(14):3994-4005 ; July 2015
Epidermolysis bullosa simplex: a Drosophila model
Consult the Pubmed abstract
To read more about "Epidermolysis bullosa simplex"

J Invest Dermatol. ; 135(8):2031-9 ; August 2015
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome: novel mouse model reconstituted with human hematopoietic stem cells
Consult the Pubmed abstract
To read more about "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"

Blood ; 125(25):3886-95 ; June 2015
Diagnostic Approaches

Neuromyelitis optica spectrum disorders: international consensus diagnostic criteria
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

Neurology ; 85(2):177-89 ; July 2015
Kawasaki disease: serum levels of N-terminal pro-brain natriuretic peptide can be used in the diagnosis
Consult the Pubmed abstract
To read more about "Kawasaki disease"

Arthritis Rheumatol. ; 67(7):1943-50 ; July 2015
Erdheim-Chester disease: the oncogenic BRAFV600E mutation is present in biopsies and in the peripheral blood from all patients
Consult the Pubmed abstract
To read more about "Erdheim-Chester disease"

Ann Rheum Dis. ; 74(8):1596-602 ; August 2015
Large vessel vasculitis: review on pragmatic approach to imaging
Consult the abstract
Expert Opinion in Orphan Drugs ; 3(7):767-775 ; July 2015

Patient Management and Therapy
Uveitis: review on drug approval
Consult the abstract
Expert Opinion in Orphan Drugs ; 3(7):799-807 ; July 2015
Becker muscular dystrophy: review on treatments and therapeutic targets
Consult the abstract
To read more about "Becker muscular dystrophy"

Expert Opinion in Orphan Drugs ; 3(7):821-29 ; July 2015
Cutaneous lupus erythematosus: review on current and future treatments
Consult the abstract
To read more about "Cutaneous lupus erythematosus"

Expert Opinion in Orphan Drugs ; 3(7):777-786 ; July 2015
Guillain-Barré syndrome: a review
Consult the abstract
To read more about "Guillain-Barré syndrome"

Expert Opinion in Orphan Drugs ; 3(7):809-819 ; July 2015
Fanconi anemia: review on hormone therapy
Consult the abstract
To read more about "Fanconi anemia"

Expert Opinion in Orphan Drugs ; 3(7):831-842 ; July 2015
B-cell chronic lymphocytic leukemia: review on obinutuzumab for the treatment
Consult the abstract
To read more about "B-cell chronic lymphocytic leukemia"

Expert Opinion in Orphan Drugs ; 3(7):843-853 ; July 2015
Autoimmune pancreatitis: review on recent advances
Consult the Pubmed abstract
To read more about "Autoimmune pancreatitis"

Gastroenterology ; 149(1):39-51 ; July 2015
Emphysematous pyelonephritis: a review
Consult the abstract
Current Bladder Dysfunction ; [Epub ahead of print] ; July 2015
Choroideremia: review on pathogenic mechanisms and gene therapy
Consult the abstract
To read more about "Choroideremia"

Expert Opinion in Orphan Drugs ; 3(7):787-798 ; July 2015
Autosomal dominant cerebellar ataxia: review on the preclinical stage
Consult the Pubmed abstract
To read more about "Autosomal dominant cerebellar ataxia"

Neurology ; 85(1):96-103 ; July 2015
Duchenne muscular dystrophy: review on recent advances in the management
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Arch Dis Child. ; [Epub ahead of print] ; July 2015
Leishmaniasis: a review
Consult the Pubmed abstract
To read more about "Leishmaniasis"

Dermatol Clin. ; 33(3):579-93 ; July 2015
Granulomatous diseases: six reviews
Consult the Pubmed abstract
To read more about "Sarcoidosis"
To read more about "Rosaï-Dorfman disease"
To read more about "Granulomatosis with polyangiitis"
To read more about "Granulomatous slack skin"
To read more about "Lymphomatoid granulomatosis"

Dermatol Clin. ; 33(3):389-416, 609-30, 457-63, 465-73, 475-87, 489-96 ; July 2015
Acute lymphoblastic leukemia: five reviews
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"

Blood ; 125(26):3977-87, 3988-95, 4010-6, 3996-4009, 4017-23 ; June 2015
Anaplastic large cell lymphoma: review on the biology and management
Consult the Pubmed abstract
To read more about "Anaplastic large cell lymphoma"

Blood ; 126(1):17-25 ; July 2015
Two new Clinical Utility Gene Card published in the European Journal of Human Genetics
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.

The European Journal of Human Genetics has published two new Clinical Utility Gene Cards for:
Zellweger syndrome
Prototypic hereditary recurrent fever syndromes

Two new and two updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Two new GeneReviews have been published for:
CHCHD10-related disorders
Sepiapterin reductase deficiency

Two updated GeneReviews have been published for:
Microphthalmia/anophthalmia/coloboma spectrum
Hereditary coproporphyria


Orphan Drugs
Synageva receives massive payout from Alexion for rare disease drug candidate
Alexion is acquiring Synageva BioPharma, a biotech in Lexington, Massachusetts, whose sebelipase alfa enzyme replacement therapy for lysosomal acid lipase (LAL) deficiency is awaiting regulatory review in the US, Europe and Japan. Named Kanuma, this enzyme replacement therapy has already been recommended by the CHMP at the EMA for marketing authorisation. Alexion is paying a whopping USD 8.4 billion in cash and stock to acquire Syngaeva. This is apparently more than double the market value of the company. According to analysts this raises questions about whether Alexion, sees broader application of the drug to treat fatty liver disease—specifically nonalcoholic steatohepatitis (NASH) or whether they plan to pass on these expenses to the consumers namely LAL patients/governments creating another high-priced drug. Alexions’ Soliris – an effective treatment for atypical hemolytic uremic syndrome – is among the most expensive drugs in the world.
Read more in Nature Biotechnology news
Read more in Bloomberg news

World Health Organization includes 16 new cancer drugs on list of essential Medicines
World Health Organization (WHO) has released its Model List of Essential Medicines, which includes 16 new cancer drugs. Updated every 2 years, this list represents “the minimum medicine needs for a basic healthcare system”, according to WHO, which is should guide development of the medicines lists of governments around the world. In this year’s list a a push towards increasing “access to drugs that can improve public health by increasing survival in common cancers or achieving high cure rates in rarer cancers is observed.”

The list was prepared by assessing the drugs against three criteria: public health relevance, magnitude of benefit, and safety. Additionally cost-effectiveness data was considered but were not mandatory for the assessment. WHO considers the listed drugs to have clinical benefits and to have the potential to achieve major improvements in public health. According to an editorial published in The Lancet Oncology it needs to be seen how prices can come down to make these medicines affordable to health-care systems and whether the inclusion of expensive drugs on the list improve access. The editorial state that some of the new high-cost cancer drugs have struggled to obtain funding in many high-income countries so how will low income and middle-income countries will be able to fund is questionable.
Read WHO press release
Read more in The Lancet Oncology News

Political and Scientific News
The National Clinical Trials Network: conducting successful clinical trials of new therapies for rare cancers
An article published by Seminars in Oncology describes the work of the National Clinical Trials Network (NCTN) who are “specifically charged with improving the care of patients with rare cancers through clinical trials research by conducting definitive, randomised, late phase clinical treatment trials.” In this context the authors discuss the “understanding of rare and molecularly-defined cancers, and propose a pathway for study of these diseases.”

Based on the observation that rare cancers present a high response rate to targeted therapies, probably due to identification of oncogenic drivers with little inter-patient variability, the authors have suggested that “bucket or basket” trials to be efficient. The authors describe these trials, which involves including patients with a wide variety of histological assessments “as they all harbour (sic) the cognate anomaly”, as a methodology pursued by NTCN. According the authors NTCN possesses an unprecedented international reach to perform widespread molecular screening and histological analysis of tumours and enrol these patients.

The authors also describe the Molecular Analysis for Therapy Choice (NCI-MATCH) project, an extension of the basket trial, under development in the NCTN. In the NCI-MATCH project multiple drugs/histological subtypes will be simultaneously studied, enrolling patients who have progressed on at least one line of standard therapy for a further molecular tumour analysis that will test for “response rate and progression free survival primary endpoints.”

Access the article

Will clinical trial data disclosure reduce incentives to develop new uses of drugs?
A letter to the editor of Nature Biotechnologyquestions whether the growing policy consensus that favours disclosure of clinical trial data is truly beneficial to the patients that they aim to serve. The letter states that despite the benefits that have been put forth, the costs and concerns associated with opening up trial data are also substantial. Pitfalls associated with patients, researchers and industry is mentioned, but the authors focus on how clinical trial disclosure will “severely limit the patentability of new uses for already approved drugs in both the United States and the European Union.”

According to the authors if, during a clinical trial, a second effect of a drug is observed and noted in a CSR, which is then disclosed according to the current regulations, patenting this second effect would be practically impossible. They add that even for uses not precisely disclosed, a skilled individual in the relevant field may be able to unravel the second use. The authors ask for further flexibility for disclosure of regulatory data as well as “market exclusivities, enforced by the FDA or EMA, (which) could provide incentives to replace unavailable patents.” They emphasise that “effective pharmaceutical innovation requires reasonable incentives engaging both private and public actors.”
Access the Letter to the Editor

Review presenting the currently available resources in mitochondrial diseases research
A review on the aspects of mitochondrial diseases that are challenging for researchers and the resources available to tackle them is published in F1000Research. The article describes the “large amount of web-based resources that have been developed in recent times on various aspects of mitochondrial disease, most of them focussing on the data from mtDNA.” The authors have provided an arguably exhaustive list of these resources, which include support and advocacy groups, tools for research as well as database and analysis pipelines. They also include resources that are rare diseases specific possessing information on mitochondrial disease, such as Orphanet, Genetic and Rare Disorder Information Center (GARD) and Patients Like Me, among others.

They also detail the crowdsourcing and crowdfunding initiatives that have proven to be successful as well as the resources available to avail these actions. A section of the paper is dedicated to describing “the challenges involved in dissecting the impact of genomic variation in disease association” in mitochondrial diseases are they affect multiple cellular process including energy metabolism. The authors believe that a global collaborative approach to “integrate accepted ontologies in a language independent representation is needed. “
Consult the Pubmed abstract

An examination of clinical trials using stem cell technologies
Authors of a review published in Cell Stem Cell examined the reports of clinical trials in the National Institute of Health in the United States and European databases to classify them by stem cell type and disease application. They also searched for clinical trial data published in peer-reviewed journals and as well as publicly available information on trials performed by companies. The authors found that considerable investment has been made in preclinical research and clinical trials, but success has been limited. The authors furnish data of the clinical trials conducted on various diseases with pluripotent stem cell types (embryonic stem cells and induced pluripotent stem cells), limbal stem cells, neural stem cells, endothelial stem or progenitor cells, placental stem cells as well as mesenchymal stem cells.

The authors establish that “limbal stem cells have matured, neural stem cells show considerable promise for regenerative repair, pluripotent stem cells have an abundant potential in regenerative medicine, and mesenchymal stem cells are numerically the most favored cell type presently under clinical trial.” Since the “promise of stem cells” attract much media attention and in turn raise patient expectations, the authors provide a cautionary note against the possible pitfalls and failures. Even then, from the study conducted they believe that “many stem cell products will meet the criteria for registered products in the established regulatory systems over the next 5 years.”
Consult the Pubmed abstract

ArmaGen currently recruiting Hunter syndrome patients for an investigational enzyme replacement therapy
ArmaGen is currently recruiting for a Phase I clinical trial of its investigational treatment, AGT-182, open to male patients 18 years and older with Hunter syndrome. AGT-182 is an investigational enzyme replacement therapy designed to treat both the body-related and central nervous system-related symptoms and complications of Hunter syndrome. The purpose of the Phase 1 trial is to test the safety and determine a well-tolerated dose of AGT-182 in people with Hunter syndrome.

Details about the trial including design, study locations and travel reimbursement are available via the Breaking Barriers website and through a convenient one page overview that can be downloaded here.



World Federation of Hemophilia Clinical Research Grant Program
The WFH's Clinical Research Grant Program provides support for international clinical investigation relating to inherited bleeding disorders.
The aim is to help create better evidence for the clinical management of hemophilia A and B, von Willebrand disease, rare factor deficiencies, and inherited platelet disorders. The program is peer reviewed and is open to researchers globally.
The WFH Clinical Research Grant Program will award up to four grants (two in each category) per year for the best proposals that address critical clinical issues of broad international significance.
For further information

Medical Research Grant Application Guidelines : Progeria Research Foundation
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
NORD: Requests for proposal
The NORD Research Grant Program provides seed-money grants to academic scientists for scientific and/or clinical research. The hope is that these studies will ultimately lead to new diagnostics, treatments, and/or cures for rare diseases. NORD’s program provides grants for the study of diseases for which there are few other sources of funding. Grants provided through the NORD program are made possible by donations from individuals and organizations to restricted research funds at NORD.
For further information

Fondation Jerome Lejeune grant application
Scientific Advisory Board of the Jérôme Lejeune Foundation invites submission from research projects aiming at deciphering the pathophysiology of the cognitive deficits of patients, especially those with trisomy 21 (Down syndrome) and other rare abnormalities such as fragile X, cri du chat, Rett, Williams-Beuren, Prader-Willi, Angelman, and other syndromes, excluding autism. - See more
AFM Telethon: Call for proposals
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

Care-for-rare science award 2015
The Care-for-Rare Foundation awards two prizes a year, in order to encourage young researchers to continue their research into rare diseases. The Dr. Holger Müller Prize, endowed with €5000, is awarded to individual researchers or research groups who have published an outstanding contribution to the study of rare diseases in the previous year.
For further information

Neuronal Ceroid Lipofuscinosis Research Award
For the sixth time the Foundation announces and donates the NCL Research Award. They invite medical and basic science researchers worldwide to submit innovative project proposals that are either clinically oriented or cover translational aspects of CLN3 biology which can contribute to finding a cure for juvenile NCL. We particularly encourage also submissions from scientists working in related biomedical areas such as other lysosomal storage diseases, endolysosomal cell biology and neurodegenerative disorders. Together with the existing NCL research community our goal is to move promising therapeutic avenues forward to help JNCL patients. The grant (50,000 euros) serves as seed money supporting a one year postdoctoral fellowship to help young scientists progressing CLN3 research in academia or industry. Deadline: October 31, 2015
For further information

The Histiocytosis Association Call for proposals
The Histiocytosis Association is pleased to announce that our 2015 Research Program is now accepting proposals focusing on the causes, mechanisms, and improved means of treatment for histiocytic disorders. Proposals must be received online by July 1, 2015. Grant awards will be up to $50,000 USD each.
For further information


Partnersearch, Job Opportunities
ECRIN ERIC job vacancies
ECRIN‐Eric is currently in the process of recruiting for its office based in Paris (France) a Capacity Project Manager, an Operations Project Manager and a Secretary. More information on the individual positions is available on the website
Civil Society representatives: Call for expression of interest is open for the EMA Management Board
The Commission is launching a selection procedure to appoint the Civil Society representatives in the Management Board of the European Medicines Agency (EMA), in London. Four members from Civil Society will be appointed: two members representing patients’ organisations, one member representing doctors’ organisations and one member representing veterinarians’ organisations. The term of office of the current members expires on 20 March 2016.
For further information

ERN ASSESSMENT: Call for Tender for Independent Assessment Bodies: tender open untill 29 September, 2015
A Call for tender concerning the selection of the independent assessment/evaluation bodies in charge of the assessment of the applications of Network and membership proposals has been launched on 22 July, 2015.

The purpose of this call for tender is to conclude Multiple Framework Contracts with reopening of competition with Independent Assessment Bodies capable of performing the technical assessment of European Reference Networks (Networks) proposals and healthcare provider's applications under the framework of Article 12 of Directive 2011/24/EU on patients' rights in cross-border healthcare.
Deadline: 22 September 2015
You will find all the information related with the application and content of the call in
For further information

Scientific Officer: John Walton Muscular Dystrophy Centre in Newcastle
The position will be in a multidisciplinary team to develop and lead on translational research in neuromuscular disorders at the John Walton Muscular Dystrophy Research Centre directed by Prof Hanns Lochmuller, Prof Kate Bushby and Prof Volker Straub. The candidate will be responsible for all dimensions of the laboratory based research at the centre, including budgets and line management of research and technical staff. The candidate will be expected to contribute significantly to the scientific output of the centre through their own research into inherited, neuromuscular disorders.
For further information


Courses & Educational Initiatives

3rd International Summer School on Rare Disease and Orphan Drug Registries
Date: 21-23 September, 2015
Venue: Rome, Italy

The School will train participants on the methodologies and resources available for the establishment of a clinical research registry and on the implementation of successful strategies to ensure long time sustainability of the registry, including data sharing and dissemination activities.
For further information

RD-Connect Workshop Data linkage and ontologies
Date: 24-25 September, 2015
Venue: Rome, Italy

The RD-Connect (http://rd-connect.eu) workshop will allow attendants to learn new concepts and tools for applying ontologies to their data and make them interoperable with other data coming from different sources.
For further information

The 2nd Biennial Australian Rare Lung Disease Short Course
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA). For further information or to register please visit: www.lungfoundation.com.au.

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

in partnership with Bambino Gesù Children’s Hospital, Rome
Registration deadline: 27th August

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September

European Cytogenetesists Association
Date: February/March of each year
Venue: Nimes, France

This course 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. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information


What's on Where?

International VHL Symposium for young adults
Date: 30 July – 3 August, 2015
Venue: Utrecht, The Netherlands

The aim of the event is to create the opportunity to network and share global experiences with VHL. Another important part of the programme is designed to increase age-specific VHL-related knowledge.
For further information

1st Australasian Undiagnosed Disease Program (UDP) Workshop
Date: 13-14 August, 2015
Venue: Queensland, Australia

The conference works towards progressing clinical and translational pathways to achieve definitive diagnoses in previously undiagnosed patients.
For further information

International MJD conference
Date: 28-29 August, 2015
Venue: Queensland, Australia

The conference theme of “excellence in research - a world of hope” will bring together people from around the world-scientists, health care professionals, and families - to share experience and knowledge of Machado Joseph Disease.
For further information

SSIEM Annual symposium
Date: 1-4 September, 2015
Venue: Lyon, France

For further information

26th European Dysmorphology Meeting
Date: 9-10 September, 2015
Venue: Le Bischenberg, France

The principal aim of this meeting has been to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development.
For further information

VII International Congress Cornelia de Lange Syndrome
Date: 9-12 September, 2015
Venue: Porto, Portugal

The conference will include a discussion on how to achieve our children’s potential, regardless their disease. Side by side, medical, scientists and parents will fight in order to bring a brighter future to all the marcos of all over the world.
For further information

The Canadian Organization for Rare Disorders Annual General Meeting
Date: 22 September, 2015
Venue: Teleconference

All individual, affiliate and corporate members of CORD in good standing are invited participate at the Annual General Meeting.
For further information

UMIB Summit 2015
Date: 24-25 September, 2015
Venue: Porto, Portugal

The UMIB Summit 2015 aims at gathering national and foreign researchers working in clinical research and clinically-oriented basic research, who present their research lines, promote the exchange of work experiences and establish synergies that allow the creation of international consortia for the implementation of strategic projects in the field of biomedicine.
For further information

DEBRA International Conference & EBCLINET
Date: 24-26 September, 2015
Venue: London, United Kingdom

The 3rd conference of EB-CLINET is open to all network partners as well as other interested people who would like to gain a better understanding of the condition, the network and/or contribute to improving the medical care or the quality of life for those affected by EB.
For further information

Tyrosinemia 2015
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

The PANDAS 2015
Date: 26 September, 2015
Venue: Lake Como, Italy

Presentations of the latest scientific advances in the diagnosis and treament of PANS/PANDAS shall include topics touching immunology, rheumatology, neurology, child psychiatry, psychology and more.
For further information

8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
Date: 30 September – 3 October, 2015
Venue: Dresden, Germany

This meeting will offer numerous opportunities to convene with experts on FMF and other auto-inflammatory diseases. This meeting hopes to welcome more than 400 participants from all over the world to discuss the latest scientific and clinical developments, including new treatment options.
For further information

Annual joint DIA/EFGCP/EMA Better Medicines for Children Conference
Date: 1-2 October, 2015
Venue: London, UK

This year’s DIA/EFGCP/EMA annual paediatric conference will focus on ways to overcome challenges faced during drug development for the paediatric population, such as through collaboration, extrapolation, modelling & simulation and adaptive pathways.
For further information

9th Annual Sickle Cell and Thalassaemia Advanced Conference
Date: 7 – 9 October, 2015
Venue: London, UK

This annual conference is now in its 9th year and is well established as one of the leading events in the world, providing an international forum for dialogue and interaction between the leading world experts in Sickle Cell Disease (SCD) and Thalassaemia and health care professionals at the frontline of care.
For further information

2nd conference on European Reference Networks
Date: 8 – 9 October, 2015
Venue: Lisbon, Portugal

This conference will bring together highly specialised healthcare providers, experts, national authorities, decision–makers, and independent bodies with experience in the assessment and evaluation of healthcare providers.
For further information

47th Congress of the International Society of Paediatric Oncology
Date: 8 – 11 October, 2015
Venue: Cape Town, South Africa

This stimulating scientific programme will facilitate the exchange of ideas and information in paediatric oncology.
For further information

The 7th International Symposium on Myelodysplastic syndromes, JMML, and Bone Marrow Failure Syndromes
Venue: Aarhus Denmark, October 1-3, 2015 The symposium will share and discuss the latest news about bone marrow failure, myelodysplastic, and myeloproliferative diseases.
For further information

Xth Annual ICORD Meeting, part of the Global Rare Diseases Week, Mexico
Date: 15-16 October (ICORD), 12-16 October (Global Rare Disease Week, Mexico)
Venue: Mexico City, Mexico

ICORD 2015 will be held in México FD (México) 15-16 October in association with FEMEXER (the Mexican Federation of Rare Diseases) and GEISER Foundation (the Group of Linkage, Research and Support for Rare Diseases in Latin America). The event is part of the “Global Rare Diseases Week, Mexico 2015″ and back to back with the 4th Latin American meeting of Rare Diseases on October 12 and the Discoveries and Innovations in Orphan Drugs Congress, October 13-14.
For further information

13th Annual Congress Of International Drug Discovery Science & Technology, Therapy And Expo‐2015
Date: 20-22 October, 2015
Venue: Beijing, China

This conference will provide a unique opportunity for researchers from all over the world to meet, network, and forge new scientific interactions.
For further information

The BioData World Congress 2015
Date: 21-22 October, 2015
Venue: Cambridge, United Kingdom

This conference is held with the support of Intel, The Wellcome Trust Sanger Institute, The European Bioinformatics Institute, The Babraham Institute, BIA, BioNow, The Pharmacogenetics and Stratified Medicine Network and the Pistoia Alliance, BioData World Congress.
For further information

The AANEM Annual Meeting
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
For further information

First European Congress on Hereditary ATTR amyloidosis ECATTR
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
For further information

2nd International Primary Immunodeficiencies Congress (IPIC)
Date: 5-6 November, 2015
Venue: Budapest, Hungary

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC, attended by 400 participants. The congress will consist of a two-day programme and is open to all stakeholders with an interest in clinical management of primary immunodeficiencies (PIDs).
For further information

Sixth Croatian Congress of Human Genetics
Date: 5-7 November, 2015
Venue: Zagreb, Croatia

This conference will be an opportunity for education of the young interested in new achievements in various areas of genetics – clinical genetics, cytogenetics, molecular genetics and anthropology, and also to highlight the importance of prevention, diagnostics and treatment of rare diseases.
For further information

16th International Conference on Human Genome Variation and Complex Genome Analysis
Date: 11-13 November, 2015
Venue: California, United States

HGV2015 will bring together approximately 180 delegates (selected on the basis of their abstract submission) in a workshop-style atmosphere, with 25 internationally recognized speakers.
For further information

Statistical analysis of massive genomic data
Date: 19-20 November, 2015
Venue: Evry, France

This two-day cross-disciplinary conference will bring together biologists, geneticists, clinicians, bioinformaticians and statisticians in order to discuss emerging challenges raised by the analysis of high-throughput genomic data, and present dedicated innovative approaches.
For further information

6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals”
Date: 21-22 November, 2015
Venue: Amsterdam, The Netherlands

The 6th European Symposium on Rare Anaemias is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias. This year, transversal topics centered on common medical problems of patients with sickle cell, thalassaemia and other forms of haemolytic anaemia will be one of the key points of the symposium.
For further information

International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2016
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
For further information

13th International Congress of Human Genetics (ICHG) 2016
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities. Registrations open in 2015.
For further information

9th ISNS International meeting/10th ISNS European Regional meeting
Date: 11-14 September, 2016
Venue: The Hague, the Netherlands

The conference will aid the sharing of neonatal screening experiences for congenital metabolic disorders, its clinical diagnostics and follow-up, and will facilitate learning from other experiences. The programme will consist of plenary lectures, oral presentations and poster sessions and will be attractive for professionals, patient/advocacy groups, policy makers and industrial partners. The programme will include evaluation of performance of neonatal screening systems and strategies for improvement.
For further information

ESID European Society for Immunodeficiencies: Biennial meeting
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information

Commercial events

Stem Cells & Regenerative Medicine Congress USA 2015
Date: 2-3 September, 2015
Venue: Washington, United States

The conference will focus on understanding how genomics is changing the field – and highlighting the commercialization and manufacturing stories that have helped spur the recent success.
For further information

Orphan Drugs Summit 2015
Date: 17-18 September, 2015
Venue: Copenhagen, Denmark

This conference will bring together different groups of stakeholders on specifically selected topics to help them build relationships and reach their goals.
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: Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

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