16 February 2016 print
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Publication of the strategy on the development of European Reference Networks

Earlier this year, the Board of Member States of the European Union published the strategic guidelines for the implementation of the European Reference Networks (ERN). They were developed by a working group following the last conference of the Council held in Lisbon in October 2015.

The document contains several important messages for healthcare providers planning to lead or join an ERN. The guidelines reiterate that an ERN must improve the access to diagnosis, treatment and the provision of high-quality healthcare to all patients who have conditions requiring a particular concentration of resources or expertise, and should also be focal points for medical training and research, information dissemination and evaluation. The Board of Member States is competent to decide on which type of ERNs to approve and on which criteria that should apply. The assessment will be based on their level of maturity, relevance and expected added value for healthcare in Europe.

The added value for EU citizens should be based on the pathologies that constitute the scope of the ERN and which healthcare services the ERN will provide. Therefore, any network that submits an ERN application should clearly show how the network will deliver benefit to the whole patient care pathway and the connections with the patients’ healthcare centres in the country of origin that will facilitate cross-border healthcare. For Rare Diseases the recommended scope of proposed ERNS has been published already (Link). The document confirms that the number of networks should be limited to ONE per thematic group.

In developing processes for the establishment of ERN, the objective of building on existing skills and experience should be clearly explained and evidenced wherever possible. The ERN will be reviewed by an independent body, and the results will be available to Member States of the Board who will then decide the network eligibility on the basis of its added value for European citizens.

Another important message is that the Board deems it unfeasible to establish all thematic networks at once; therefore, further calls should be launched in due time, as provided in the legal base, so that all potential thematic groups of rare and low prevalence and complex diseases and conditions will in time have the opportunity to be covered by a Network. The tentative date for further calls should be communicated in the near future.

The document reaffirms that healthcare providers are able to apply to join established networks at any time. New members joining an existing network must meet the same conditions applied to existing members. To ensure that non-Member healthcare providers are able to access the expertise of the ERN, the document emphasises the importance of ERNs indicating entrance pathways for the affiliation of centres others than the approved members of the Network. ERN applicants are encouraged to liaise with National authorities, where appropriate, to identify a list of potential affiliated partners, for collaboration with the network from the outset. Evaluation of affiliated partners is a matter of national designation.

To address gaps and reduce overlap, the MS and European Commission will evaluate and address long-term transversal and structural issues across networks. This includes development of overarching structures, such as common datasets and the linking of databases or quality registers, bioinformatics, IT and e-Health tools. In addition, it is proposed that specialised laboratory services, sequencing diagnostic capacities and clinical interpretation support could be developed as a horizontal theme with priority across relevant thematic areas. In order to facilitate data exchange and development of common structures, financial support should be sought for within such mechanisms as Connecting Europe Facility (CEF), Horizon 2020, or similar existing or future initiatives.

The priority thematic areas and the eligibility requirements will be published in the first call, which should be out in early March.
Read the policy paper on the implementation of the ERN

Spotlight on...
Examining orphan medicinal product approval in Europe in 2015
The European Medicines Agency (EMA) has recently published the list of human medicines that Committee for Medicinal Products for Human Use (CHMP) recommended for approval in 2015. Out of the 93 human medicines that the CHMP recommended in 2015, 18 had orphan indications. The EMA reported that several of these orphan medications represented therapeutic innovations, which is essential for advancing public health. Once the CHMP recommends the medications for marketing authorisation, the medications with an orphan designation are evaluated by the Committee for Orphan Medicinal Products (COMP) and finally by the European Commission for European Marketing Authorisation. Orphan medicines that received European Marketing Authorisation in 2015 is reported in the Orphanet Report Series on Lists of medicinal products for rare diseases in Europe.
The report confirms that 14 orphan medicinal products received European Marketing Authorisation in 2015 which are mentioned below. They have been classified according to their representation in the Anatomical Therapeutic Chemical (ATC) category.

Alimentary Tract and Metabolism:

General Antifectives for Systemic Use:

Antineoplastic and Immunomodulating:

Nervous System

Sensory Organs

As stated in the EMA document, Strensiq and Raxone were recommended for marketing authorisation under exceptional circumstances, while Kanuma, Kyprolis and Levnima received a recommendation for marketing authorisation following an accelerated assessment. Moreover, Blincyto was one of the three medicines that received a recommendation for a conditional marketing authorisation which is one of the EMA’s early access routes to patients.

The Orphanet report on Lists of medicinal products for rare diseases in Europe also identifies 14 medications that do not have an orphan designation but are intended to treat rare diseases that also received European Marketing Authorisation for in 2015. These medication either did not have an orphan designation or the designation was withdrawn after marketing authorisation (Elocta, Obizur, Orkambi).


National & International Policy Developments
Other European news
NICE and NHS England recommend restructuring the Cancer Drugs Fund
National Health Service (NHS) England and the National Institute for Health and Care Excellence (NICE) have announced a proposal to make the Cancer Drugs Fund a part of the NICE appraisal process from 1 April, 2016 onwards. It will offer patients access to promising drugs for which insufficient evidence exists for a recommendation by NICE. NICE and NHS England published this proposal on its website, which was open for public consultation.

According to the proposal, NICE will issue draft guidance for cancer drugs before market authorisation and again within 90 days of authorisation in which they will recommend some drugs for use in the new fund.

When the Cancer Drugs Fund was first established in 2010, it ran as a parallel system to NICE, which allowed some pharmaceutical companies to bypass NICE - a procedure discouraged in the new proposal. Furthermore an audit conducted by National Audit Office (NAO) in 2015 on this fund revealed that it failed to collect patient outcomes, which was considered an expensive error according by some experts (Read in OrphaNews). In the renewed procedure, the fund will collect data on patient outcomes, usually for up to 24 months, after which NICE will issue a recommendation on its routine commissioning. Public consultation for this proposal ended on 11 February, 2016 and details on its implementation will be announced in the near future.
Access the document

Other International News
Orphan drugs among the record number of novel drugs approved in the United States in 2015
Center for Drug Evaluation and Research (CDER) in the United States, which oversees the approval of small molecules and antibodies, have reported the approval of 45 novel drugs in 2015. This not only higher than the previous recent record of 41 drugs in 2014, but also marks a 19 year high and is significantly greater than the average of 28 drugs that were approved during the previous decade.

Notably, approvals for orphan-designated drugs for rare diseases hit their highest level ever. The CDER approved 21 (47%) drugs with orphan indications in 2015, up from 17 (41%) in 2014 and 9 (33%) in 2013. As in 2014, over half of these orphan drugs were cancer drugs, which according to an article published in Nature Drug Discovery reflects the “ability to split cancer indications into narrower and narrower segments.” More than 65% of the novel drugs that CDER identified as First-in-Class - drugs that often have mechanisms of action different from those of existing therapies – are orphan drugs. Additionally, 75% of the novel drugs that were classed with breakthrough status were orphan drugs.

Out of the 21 novel orphan drugs, 8 of them received breakthrough status and 17 of them received priority review. Fourteen of these orphan drugs has been first approved in the United States, 5 of which received accelerated approval.

Please note that according to the FDA website approximately 39 orphan drugs received marketing authorisation in the United States in 2015, although official numbers have not been released yet. The numbers above are of the authorised orphan drugs that are also considered novel and not of all orphan drugs that received marketing authorisation in 2015.
CDER on Novel Drug Approval in 2015

The work of IGNITE network to advance genomic medicine implementation and research
To address the challenges that currently exist to widespread clinical implementation of genomic medicine the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE) Network was established.

An article published in BMC Medical Genomics describes this network which is comprised of six projects and a coordinating center to support the “development, investigation and dissemination of genomic medicine practice models that seamlessly integrate genomic data into the electronic health record and that deploy tools for point of care decision making.”

According to the authors the projects are novel, aiming to enhance the translational ability of genomic information into clinical settings and is poised to have a significant impact in medical practise.
Read the article

Japan announces a budget for innovative medicines
Late last year Japan's cabinet earmarked ¥82.5 billion towards Ministry of Health, Labor and Welfare (MHLW) for several initiatives which included promoting the development of innovative drugs, developing information database for pharmacovigilance, strengthening the capacity of Pharmaceutical and Medical Devices Agency (PMDA) and others. Genomic work will be a key focus of the spending on innovative medicine.
Read the budget proposal (in Japanese – see pg 43-49 for specifics on this budget)

NIH budgets for utilising genomics to understand rare disease
To boost the understanding of the genomic bases of rare as well as common diseases, the National Institutes of Health (NIH) has announced its decision to earmark funds towards genome sequencing and analysis centres.

The National Human Genome Research Institute (NHGRI) announced the next phase of the Centers for Mendelian Genomics (CMG), which investigates the genomic underpinnings of rare diseases. Here scientists will “build on an international network of research collaborations and sequence the genomes of individuals with a wide range of rare disorders seen around the world.”

Pending the availability of funds, NHGRI will provide CMG programs with roughly USD 40 million, over four years. NHGRI will also fund a new Coordinating Centre for approximately $4 million over four years to facilitate research collaborations among the program grantees, and to contribute to data analysis and program outreach. Additionally the National Heart, Lung, and Blood Institute the National Eye Institute will provide support to the CMG program.
Read the NIH press release

A review on the NIH Undiagnosed Diseases Program and Network
Providing information on the National Institute of Health Undiagnosed Diseases Program and Network, where some seriously ill individuals are able to receive a definitive diagnosis, is a review published in Molecular Genetics and Metabolism. This programme was established to provide answers to patients with conditions that have been unable to receive a diagnosis. The review describe the process and criteria of selecting patients that can benefit through this programme, services provided by them, their goals and accomplishments. The authors also provide information on the recently launched national Undiagnosed Diseases Network (UDN) to accelerate diagnosis and new disease discovery.
Read the PubMed abstract

Guidance Documents and Recommendations
Primary immunodeficiency: practice parameter for the diagnosis and management
Consult the Pubmed abstract
To read more about "Primary immunodeficiency"

J Allergy Clin Immunol. ; 136(5):1186-1205 ; November 2015
Evaluation of the existing guidelines and recommendations for inherited neurometabolic disorders
The NerMeD-I-Network, is the first European network on Inherited neurometabolic disorders (iNMDs) that was created with the aim of sharing and increasing validated information about diagnosis and management of neurometabolic disorders. An article published by this network in Orphanet Journal of Rare Diseases reported on the number and the methodological quality of existing guidelines and recommendations for iNMDs. A systematic literature survey helped them find 55 records out of which only 11 % were about groups of disorders. They also reported that the overall methodological quality of the recommendation was acceptable but believed that additional effort is required to improve the methodological quality of guidelines and recommendations for iNMDs.
Read the open access article

Screening and Testing
Decision making process to test children for sickle cell carrier status in the United Kingdom
To clarify how or why professionals in the United Kingdom make decisions to test children for sickle cell carrier status, the authors of an article published in European Journal of Human Genetics conducted a survey. They report a wide variation in testing advice and suggested childhood SCT testing practices across the United Kingdom. According to the authors few professionals were aware of, or used, guidelines to inform testing decisions and many did not consult children when making the decisions. According to the authors an improved awareness of guidelines is required as well as the strategies required to help professionals determine children’s cognitive capacity and to protect children’s future autonomy during discussions with persistent parents.
Read the PubMed abstract

Debate on the usage of fetal exome sequencing to assess a dysmorphic or malformed fetus
Prenatal Diagnosis has published the oral debate that was presented at the 19th International Conference on Prenatal Diagnosis and Therapy last year, on whether foetal exome should be used to assess a malformed foetus. The usage of this technique is in its infancy and reports of its practise is limited but both debaters agree on its immense potential. The debate highlighted, in detail, the various benefits, limitations and challenges of performing foetal exome sequencing, thus providing an informed overview of the procedure.
Read the PubMed abstract

A need for systematic screening for sickle cell disease in Central India
A study published in Plos One reported on the effort to conduct a systematic screening of sickle cell disease (SCD) in Central India, where it is a major health burden. The authors reported that screening pregnant mothers and their babies (if the mother was positive for sickle haemoglobin), allowed them to identify newborns with sickle cell disease. This in turn helped them provide prophylactic treatment and vaccinations in addition to systematically following up with haematological and clinical evaluation with these children. From this the authors found that 47% of the babies presented within the first year of their life, many of whom had severe manifestation. According to the authors, the importance of “early diagnosis and prophylactic treatment, parental education and the importance of tertiary care centres that should be made available to allow for prompt treatment”, cannot be overstated.
Read the PubMed abstract

The most significant advances of prenatal diagnosis in 2014
Editors of Prenatal Diagnosis have published the 10 main advances made in the field of prenatal diagnosis in 2014 . These are (in random order):

“ 1. Fetoscopic treatment of spina bifida
2. Solomon trial results for treatment of twin-to-twin transfusion syndrome
3. Noninvasive prenatal diagnosis and treatment of congenital adrenal hyperplasia
4. Prevention of congenital cytomegalovirus with immune globulin
5. Involvement of neural crest cells in formation of the nuchal translucency
6. Assessment of fetal (DNA) fraction using paired-end sequencing
7. Reduction of noninvasive prenatal testing costs using semiconductor sequencing or microarrays
8. Comparison of RNA sequencing to gene expression microarrays
9. Noninvasive prenatal testing for the general obstetrical population
10. Public sector trials of noninvasive prenatal test performance”

Read the PubMed abstract

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Authors of an article published in Genomic Medicine utilised “whole-genome sequencing (WGS) and comprehensive medical annotation to assess 100 patients referred to a paediatric genetics service and compared the diagnostic yield versus standard genetic testing.” They found that utilising WGS produced superior results when detecting variants in childhood disease compared to other technology platforms. Specifically, the authors reported a fourfold increase in molecular diagnosis using WGS compared to chromosome microarray analysis and a greater than two fold increase when all genetic testing protocols were considered.
Read the open access article


Ethical, Legal & Social Issues
Incorporating patient preferences into drug development and regulatory decision making
The EMA consistently interacts with patients, consumers and their organisations to better understand and evaluates benefits and risks of medications. In order to determine how patient preferences can be included to inform the regulatory process, the European Medicines Agency (EMA) conducted a pilot study regarding the desirability of different outcomes in the treatment of advanced cancer.

They did this with the use of simple questionnaires and face-to-face interviews and found that this procedure was “easy to implement and sufficiently precise” to learn about the distribution of the participants’ individual preferences, thus yielding useful information for the regulatory review.” According to the authors, patient preference responses could also help with the identification of subgroups and thus market authorisation decisions that are tailored to such subgroups as well as highlight situations where the regulators’ value judgments differ from those of patients.
Read the PubMed abstract

Another example of a motivated rare disease patient making a difference
An article published in International Journal of Cardiology describes the case of how a motivated patient can lead to create a successful patient organization that can help the rare disease community. This patient, after being diagnosed with fibromuscular dysplasia (FMD) found a dearth of information on the disease. This motivated the patient, along with a small online community, to form the patient organisation - Fibromuscular Dysplasia Society of America (FMDSA) in order to provide better advocacy about the disease and has since dedicated more than a decade towards creating greater awareness.
Read the PubMed abstract

Utilising a public health persepective on rare diseases
An essay published by the Centers of Disease Control in the United States, makes a case for a public health approach towards addressing rare diseases. The authors note that the number of patients that belong to >7000 rare diseases provide the critical mass that could benefit from the public health approach. The authors provide few notable examples of its successful application to these diseases and a structured list of public health activities and goals that are key to the management of rare diseases in populations. These activities, although proposed for single rare diseases, can be more effective when a groups of rare diseases can be bunched together.
Read the PubMed abstract

Open for public consulation: sharing clinical trial data
The International Committee of Medical Journal Editors (ICMJE) have proposed recommendations to responsibly share data generated by interventional clinical trials on their website, which is now open for public consultation.

According to ICMJE participants put themselves at risk when they participate in interventional clinical trials and it is an ethical obligation to share data in a responsible formation. ICJME emphasise that there are many positive reasons to share data such as increasing confidence in the clinical trial process, independent confirmation of the data, advancing science by avoiding unwarranted repetition, in addition to being a moral obligation towards its participants and patients.

Anyone can provide feedback at www.icmje.org by 18 April 2016. Further details may be found in the Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals at www.icmje.org.
Read the open access article


New Syndromes

Severe encephalopathy with hypotonia caused by mutations in UNC80
In a first article, the authors reported four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 with persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. In a second article, the authors described three Saudi Arabian families and one Egyptian family affected by a similar phenotype (infantile encephalopathy and largely normal brain MRI). Two recessive mutations in UNC80 were identified.
Consult the Pubmed abstracts

Am J Hum Genet. ; 98(1):202-9; 210-5 ; January, 2016
Syndromic intellectual disability and inhibitory synaptic defects due to loss-of-function mutations in NONO in three patients
The authors carried out whole-exome sequencing in two unrelated male intellectual disability patients, who presented the same gestalt of slender build, macrocephaly, distinctive facial features, shy behaviour, a thick corpus callosum and a small cerebellum. The X-linked NONO gene emerged as a candidate. The role of this gene in the etiology of intellectual disability was further supported by the identification of a third patient from a separate cohort with similar morphological and behavioural characteristics to the other two patients.
Consult the Pubmed abstract

Nat Neurosci. ; 18(12):1731-6 ; December 2016
Syndromic intellectual disability associated with loss-of-function variants in POGZ
De novo heterozygous truncating mutations in POGZ were identified in five unrelated individuals with neurodevelopmental disorders ranging from autism spectrum disorder to developmental delay. Careful review of the phenotypes revealed shared features that included developmental delay, intellectual disability, hypotonia, behavioural abnormalities, and similar facial characteristics. Variable features included short stature, microcephaly, strabismus and hearing loss.
Consult the Pubmed abstract

Genome Med. ; 8(1):3 ; January, 2016
Novel syndrome characterised by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia linked to disruptive SCYL1 mutations
The authors reported on three individuals from two unrelated families who presented with recurrent episodes of acute liver failure in early infancy and were affected by cerebellar vermis atrophy, ataxia, and peripheral neuropathy. By whole-exome sequencing, compound-heterozygous mutations within SCYL1 were identified in all affected individuals.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(6):855-61 ; December 2015
Intra-mitochondrial methylation deficiency due to recessive mutations in SLC25A26 in three families
The authors reported a syndrome in three families affected by reduced intra-mitochondrial methylation caused by recessive mutations in SLC25A26. Clinical findings ranged from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(5):761-8 ; November 2015
Autosomal dominant cerebellar ataxia caused by a recurrent mutation in CACNA1G in three families
In a large family affected by autosomal dominant cerebellar ataxia and mild pyramidal signs, the authors searched for the causative variant by combining linkage analysis and whole-exome sequencing. A mutation was identified in CACNA1G. Two other unrelated individuals harbored the same mutation.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(5):726-37 ; November 2015
Atypical chondrosarcoma of the mastoid in three family members
The authors presented a case series of a family with three members having cartilaginous tumours of the mastoid. All patients presented between the ages of 9 to 12 years with acute onset facial nerve paralysis. Histologic analysis of all tumours showed similar features, consistent with atypical cartilaginous tumours/chondrosarcoma, low-grade.
Consult the Pubmed abstract

Laryngoscope ; [Epub ahead of print] ; December 2015

New Genes

Multiple benign circumferential skin creases on limbs caused by mutations in either TUBB or MAPRE2
Consult the Pubmed abstract
To read more about "Multiple benign circumferential skin creases on limbs"

Am J Hum Genet. ; 97(6):790-800 ; December 2015
Joubert syndrome due to mutations in CEP104 in the French Canadian population
Consult the Pubmed abstract
To read more about "Joubert syndrome"

Am J Hum Genet. ; 97(5):744-53 ; November 2015
Waardenburg syndrome type 2 associated with allelic mutations in KITLG
Consult the Pubmed abstract
To read more about "Waardenburg syndrome type 2"

Am J Hum Genet. ; 97(5):647-60 ; November 2015
Primary microcephaly and primordial dwarfism caused by RTTN mutations in two families
Consult the Pubmed abstract
To read more about "Autosomal recessive primary microcephaly"

Am J Hum Genet. ; 97(6):862-8 ; December 2015
Congenital anomalies of kidney and urinary tract linked to heterozygous TBC1D1 mutations
Consult the Pubmed abstract
To read more about "Renal or urinary tract malformation"

Hum Genet. ; 135(1):69-87 ; January, 2016
Severe dermatitis-multiple allergies-metabolic wasting syndrome caused by mutations in DSP
Consult the Pubmed abstract
To read more about "Severe dermatitis-multiple allergies-metabolic wasting syndrome"

J Allergy Clin Immunol. ; 136(5):1268-76 ; November 2015
Early-onset recessive optic neuropathies due to recessive mutations in RTN4IP1 in four families
Consult the Pubmed abstract
To read more about "Autosomal recessive isolated optic atrophy"

Am J Hum Genet. ; 97(5):754-60 ; November 2015
Congenital hereditary endothelial dystrophy type I and posterior polymorphous corneal dystrophy associated with pathogenic variants of OVOL2
Consult the Pubmed abstract
To read more about "Congenital hereditary endothelial dystrophy type I"
To read more about "Posterior polymorphous corneal dystrophy"

Am J Hum Genet. ; 98(1):75-89 ; January, 2016
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia caused by missense mutations in MECOM in three individuals
Consult the Pubmed abstract
To read more about "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"

Am J Hum Genet. ; 97(6):848-54 ; December 2015
Fibrous dysplasia of bone linked to germline and somatic mutations in MET
Consult the Pubmed abstract
To read more about "Fibrous dysplasia of bone"

Am J Hum Genet. ; 97(6):837-47 ; December 2015
Nemaline myopathy with cardiomyopathy associated with a homozygous nonsense mutation in MYO18B
Consult the abstract
To read more about "Nemaline myopathy"

Journal of Neuromuscular Diseases ; vol. 2, no. 3, pp. 219-227 ; September 2015
Cowden syndrome linked to germline heterozygous variants in SEC23B
Consult the Pubmed abstract
To read more about "Cowden syndrome"

Am J Hum Genet. ; 97(5):661-76 ; November 2015
Hypomyelinating leukodystrophy caused by TUBB4A, POLR3B, KCNT1 and MCOLN1
Consult the Pubmed abstract
Hum Genet. ; 135(1):89-98 ; January, 2015
Orofacial clefts: DGCR6, FGF2, FRZB, LETM1, MAPK3, SPRY1, THBS1, TSHZ1, TTC28, TULP4, WHSC1, WHSC2 as candidate genes
Consult the Pubmed abstract
Hum Genet. ; 135(1):41-59 ; January, 2016

Research in Action

Clinical Research
Juvenile dermatomyositis: creatine supplementation is well tolerated but does not affect muscle function
Consult the Pubmed abstract
To read more about "Juvenile dermatomyositis"

Muscle Nerve ; 53(1):58-66 ; January, 2016
Chronic myeloid leukaemia: patients with non-optimal responses to imatinib should be switched quickly to dasatinib
Consult the Pubmed abstract
To read more about "Chronic myeloid leukemia"

Eur J Haematol. ; 95(6):558-65 ; December 2015
Long-chain fat oxidation disorders: efficacy and safety of triheptanoin diet and carnitine supplement
Consult the Pubmed abstract
Mol Genet Metab. ; 116(4):260-8 ; December 2015
Autoimmune cerebellar ataxia: treatment responses can be positive in some patients
Consult the Pubmed abstract
JAMA Neurol. ; 72(11):1304-12 ; November 2015
Neuromyelitis optica: repeated rituximab treatment maintains good efficacy and safety
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

JAMA Neurol. ; 72(9):989-95 ; September 2015
Acute leukaemia of ambiguous lineage: allogeneic stem cell transplantation is an effective treatment
Consult the Pubmed abstract
To read more about "Acute leukemia of ambiguous lineage"

Eur J Haematol. ; 95(5):455-60 ; November 2015
Refractory acute myeloid leukaemia: allogeneic stem cell transplantation is a curative treatment option for some patients
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Eur J Haematol. ; 95(6):498-506 ; December 2015
Duchenne muscular dystrophy: review on the effects of physical exercise
Consult the abstract
To read more about "Duchenne muscular dystrophy"

Journal of Neuromuscular Diseases ; vol. 2, no. 4, pp. 325-342 ; 2015
Combined immunodeficiency due to LRBA deficiency: description of a large cohort of patients
Consult the Pubmed abstract
To read more about "Combined immunodeficiency due to LRBA deficiency"

J Allergy Clin Immunol. ; 137(1):223-30 ; January, 2016
Oculopharyngeal muscular dystrophy: phenotype extension with the first case with dropped-head syndrome
Consult the Pubmed abstract
To read more about "Oculopharyngeal muscular dystrophy"

Neuromuscul Disord. ; 25(11):869-72 ; November 2015
L-Arginine:glycine amidinotransferase deficiency: clinical features and long term outcomes
Consult the Pubmed abstract
To read more about "L-Arginine:glycine amidinotransferase deficiency"

Mol Genet Metab. ; 116(4):252-9 ; December 2015
Therapeutic Approaches

Phenylketonuria: oral sapropterin therapy does not affect central nervous system monoamine synthesis in model mice but may stimulate synaptic neurotransmitter release
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Mol Genet Metab. ; 117(1):5-11 ; January, 2016
Duchenne muscular dystrophy: the angiotensin converting enzyme inhibitor lisinopril improves muscle histopathology but not contractile function in a mouse model
Consult the article
To read more about "Duchenne muscular dystrophy"

Journal of Neuromuscular Diseases ; 257–268 ; 2015
Fibrodysplasia ossificans progressive: new induced pluripotent stem cells model
Consult the Pubmed abstract
To read more about "Fibrodysplasia ossificans progressiva"

Stem Cell Reports ; 5(6):963-70 ; December 2015
Duchenne muscular dystrophy: the first exon duplication mouse model
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Neuromuscul Disord. ; 25(11):827-34 ; November 2015
Diagnostic Approaches

Hypophosphatasia and osteogenesis imperfecta may be easily misdiagnosed in the prenatal stage but also in adults with mild symptoms for these diseases
Consult the Pubmed abstract
To read more about "Hypophosphatasia"
To read more about "Osteogenesis imperfecta"

Mol Genet Metab. ; 116(3):215-20 ; November 2015
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss
Consult the Pubmed abstract
To read more about "Biotinidase deficiency"

Mol Genet Metab. ; 116(3):113-8 ; November 2015
Cutaneous mastocytosis: task force criteria for diagnosis of cutaneous manifestations
Consult the Pubmed abstract
To read more about "Cutaneous mastocytosis"

J Allergy Clin Immunol. ; 137(1):35-45 ; January, 2016J Allergy Clin Immunol. ; 137(1):35-45 ; January, 2016
Systemic mastocytosis: clinical, immunophenotypic, and molecular characteristics
Consult the Pubmed abstract
To read more about "Systemic mastocytosis"

J Allergy Clin Immunol. ; 137(1):168-178 ; January, 2016
Ocular myasthenia gravis: older age, male sex, and progression to generalised disease is significantly associated with a positive acetylcholine receptor antibody test result
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

JAMA Neurol. ; 72(10):1170-4 ; October 2015
Diagnostic utility of somatosensory evoked potentials in chronic inflammatory demyelinating polyneuropathy without electrodiagnostic signs of peripheral demyelination
Consult the Pubmed abstract
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Muscle Nerve ; 53(1):78-83 ; January, 2016
Limb-girdle muscular dystrophy: 45% diagnostic success rate in a difficult-to-diagnose cohort of patients with whole-exome sequencing
Consult the Pubmed abstract
JAMA Neurol. ; 72(12):1424-32 ; December 2015
Acquired peripheral neuropathy: review on rare subtypes and their diagnosis
Consult the Pubmed abstract
To read more about "Acquired peripheral neuropathy"

JAMA Neurol. ; 72(12):1510-8 ; December 2015
Neuromuscular diseases: review on diagnostic use of massively parallel sequencing
Consult the abstract
Journal of Neuromuscular Diseases ; vol. 2, no. 3, pp. 193-203 ; 2015
Special issue of the ‘American Journal of Medical Genetics Part C’ on genetic differentials of syndromes mimicking child abuse
Consult the special issue
To read more about "Osteogenesis imperfecta"
To read more about "Ehlers-Danlos syndrome"

American Journal of Medical Genetics Part C ; 169(4):281–360 ; December 2015

Patient Management and Therapy
Sickle cell anaemia: review on orphan drugs
Consult the abstract
To read more about "Sickle cell anemia"

Orphan Drugs: Research and Reviews ; Volume 2015:5 Pages 99—112 ; November, 2015
Idiopathic multicentric Castleman disease: review on siltuximab for the treatment
Consult the Pubmed abstract
To read more about "Multicentric Castleman disease"

BioDrugs ; 29(6):399-406 ; December 2015
Isolated and syndromic congenital sternal cleft: review on the treatment
Consult the abstract
To read more about "Sternal cleft"

Journal of Rare Disorders: Diagnosis & Therapy ; 1(3) ; November 2015
Acquired thrombotic thrombocytopenic purpura: review on rituximab for the treatment
Consult the Pubmed abstract
To read more about "Acquired thrombotic thrombocytopenic purpura"

Eur J Intern Med. ; 26(9):659-65 ; November 2015
Immune thrombocytopenia: review on the treatment
Consult the Pubmed abstract
Rev Med Interne. ; 37(1):43-9 ; January, 2016
Antiphospholipid syndrome: review on current treatments
Consult the Pubmed abstract
To read more about "Antiphospholipid syndrome"

Nat Rev Rheumatol. ; 11(10):586-96 ; October 2015
Duchenne muscular dystrophy: review on gene therapy
Consult the abstract
To read more about "Duchenne muscular dystrophy"

Journal of Neuromuscular Diseases ; vol. 2, no. 4, pp. 343-355 ; September 2015
Becker muscular dystrophy: review on follistatin gene therapy
Consult the abstract
To read more about "Becker muscular dystrophy"

Journal of Neuromuscular Diseases ; pp. 185-192 ; September 2015
Multiple myeloma: review on bendamustine for the treatment
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Eur J Haematol. ; 95(5):377-88 ; November 2015
Lymphoid malignancies: review on novel immunotherapies
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"
To read more about "Precursor B-cell acute lymphoblastic leukemia"
To read more about "Hodgkin lymphoma"

Nat Rev Clin Oncol. ; 13(1):25-40 ; January, 2016
Paget disease of bone: review on genetic and environmental factors
Consult the Pubmed abstract
To read more about "Paget disease of bone"

Nat Rev Endocrinol. ; 11(11):662-71 ; November 2015
Renal or urinary tract malformation: review on genetic, environmental and epigenetic factors
Consult the Pubmed abstract
To read more about "Renal or urinary tract malformation"

Nat Rev Nephrol. ; 11(12):720-31 ; December 2015
Monogenic neuromuscular disorders: the 2016 version of the gene table
Consult the abstract
Neuromuscular Disorders ; 25(12):991-1020 ; December 2015
Epithelial cancers: review on gene fusions
Consult the Pubmed abstract
Genome Med. ; 18;7(1):129 ; December 2015
Amyotrophic lateral sclerosis: review on ‘-omics’ technologies
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Trends Mol Med. ; 22(1):53-67 ; January, 2016
Guillain-Barré syndrome: a review
Consult the Pubmed abstract
To read more about "Guillain-Barré syndrome"

Muscle Nerve ; 52(6):927-32 ; December 2015
Paediatric neuromuscular disorders: review on feeding and swallowing disorders
Consult the abstract
Journal of Neuromuscular Diseases ; vol. 2, no. 4, pp. 357-369 ; 2015
Sensory neuropathies: a review
Consult the abstract
Muscle Nerve ; 53(1):8-19 ; November 2015
Wilson disease: a review
Consult the Pubmed abstract
To read more about "Wilson disease"

World J Hepatol. ; 7(29):2859-70 ; December 2015
Sarcoidosis-a review of the literature
Consult the Pubmed abstract
To read more about "Sarcoidosis"

Intractable Rare Dis Res. ; 4(4):170-80 ; November 2015
Pulmonary alveolar microlithiasis: a review
Consult the Pubmed abstract
To read more about "Pulmonary alveolar microlithiasis"

Eur Respir Rev. ; 24(138):607-20 ; December 2015
Nephrogenic diabetes insipidus: review on pathophysiology, diagnosis and management
Consult the Pubmed abstract
To read more about "Nephrogenic diabetes insipidus"

Nat Rev Nephrol. ; 11(10):576-88 ; October 2015
IgG4-related disease: two reviews
Consult the Pubmed abstracts
Eur J Intern Med. ; 27:1-9 ; January, 2016
Nat Rev Nephrol. ; 11(10):599-609 ; October 2015
Disorders of carnitine biosynthesis and transport: a review
Consult the Pubmed abstract
Mol Genet Metab. ; 116(3):107-12 ; November 2015
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A: a review
Consult the Pubmed abstract
To read more about "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"

Mol Genet Metab. ; 117(1):1-4 ; January, 2016
Myelofibrosis with myeloid metaplasia: a review on prognostic classification systems
Consult the Pubmed abstract
To read more about "Myelofibrosis with myeloid metaplasia"

Cancer ; [Epub ahead of print] ; December 2015
HPV-associated head and neck cancer: a review
Consult the Pubmed abstract
To read more about "Squamous cell carcinoma of head and neck"

J Natl Cancer Inst. ; 107(12):djv344 ; December 2015
Four new and four 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. Four new GeneReviews have been published for:
Autosomal dominant leukodystrophy with autonomic disease
Action myoclonus – renal failure syndrome
DYRK1A-related intellectual disability syndrome
Hereditary fructose intolerance

Four updated GeneReviews have been published for:
Isolated methylmalonic acidemia
VCAN-related vitreoretinopathy
Autosomal dominant tubulointerstitial kidney disease, REN-related (ADTKD-REN)
Phosphoribosylpyrophosphate synthetase superactivity


Orphan Drugs
Rare blood cancer drug Oncaspar approved in Europe
Oncaspar has received European marketing authorisation to improve treatment outcomes for acute lymphoblastic leukaemia (ALL) patients in the EU. The European Commission granted a licence for the drug's use as a component of antineoplastic combination therapy in acute lymphoblastic leukaemia (ALL) in paediatric patients from birth to 18 years, and adult patients. ALL is a rare blood cancer that affects the rapid production of white blood cells, around 60% of the 4,000 ALL cases seen in Europe each year are found in children. Once launched in Europe Oncaspar will compete with Blincyto (blinatumomab), which the European Commission approved in November.
Read the open access article

Regulatory News
14 positive opinions recommending orphan designation at the January 2016 COMP meeting
-> The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted four positive opinions issued at the January 2016COMP meeting for the treatment of:

- acute myeloid leukaemia
- epidermolysis bullosa
- autoimmune haemolytic anaemia
- pantothenate-kinase-associated neurodegeneration
- C3 glomerulopathy
- Ebola virus disease
- retinitis pigmentosa
- glioma (2 treatments)
- periodic paralysis
- non-infectious uveitis,
- progressive supranuclear palsy
- behavioural variant frontotemporal dementia
- acute myeloid leukaemia

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

Political and Scientific News
Evidence of the cost-effectiveness of orphan drugs from a cost-utility analyses persepective
A study published in Journal of Clinical Pharmacy and Therapeutics provided an overview of the available evidence on the cost-effectiveness of orphan drugs approved by the European Medicines Agency until November 2013. The authors identified cost-utility analyses (CUAs) by utilising the Tufts Medical Center Cost-Effectiveness Analysis Registry and Embase where they found data on 45 CUAs and 61 incremental cost-utility ratios (ICURs) for 19 orphan drugs. They reported that the ICURS per quality-adjusted life year (QALY) met traditional reimbursement thresholds and around 10 orphan drugs out of the 19 met this threshold (£30 000/QALY- in UK and Wales) and 15 could be reimbursed if the threshold was increased to (€80 000/QALY- in the Netherlands).
Read the PubMed abstract



CCG Funding Opportunities
The National Cancer Institute (NCI) has published three companion Funding Opportunity Announcements (FOAs) for Genomic Data Analysis Network Centers to support programs of the Center for Cancer Genomics (CCG). The FOAs are managed by CCG and solicit applications for a Processing Genomic Data Center, aVisualization Genomic Data Center, and a Specialized Genomic Data Center.
Access each of the solicitationshere

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
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

Congenital Central Hypoventilation Syndrome Family Network
The Congenital Central Hypoventilation Syndrome (CCHS) pilot grant award represents a collaborative effort between the CCHS Family Network and the CCHS Foundation to encourage and support basic, clinical, translational, or epidemiological research to impact the lives of patients with CCHS.

The grant provides up to $30,000 over 1 year for expenses related to the research project, which may include research laboratory supplies, equipment, publication charges for manuscripts that pertain directly to the funded project, and other research expenses. Application Deadline: 29 February, 2016

Congenital Central Hypoventilation Syndrome Family Network
The Congenital Central Hypoventilation Syndrome (CCHS) pilot grant award represents a collaborative effort between the CCHS Family Network and the CCHS Foundation to encourage and support basic, clinical, translational, or epidemiological research to impact the lives of patients with CCHS.

The grant provides up to $30,000 over 1 year for expenses related to the research project, which may include research laboratory supplies, equipment, publication charges for manuscripts that pertain directly to the funded project, and other research expenses. Application Deadline: 29 February, 2016
For further information

Kindness for Kids Health Care Award
Kindness for kids will award a maximum of 40,000 euros for the implementation of a project that aims to directly improve the situation of children living with a rare disease through structural changes or with a new therapeutic approach in the area of physiotherapy and psychological care.
For further information

The Jerome Lejeune Foundation
If you are a researcher investigating intellectual disability from genetic origin appearing in early childhood, the Scientific Advisory Board of the Jerome Lejeune Foundation invites you to submit your research project 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. Grants are offered for one or two year(s) within the range of EUR 20 000 per year. Clinical projects could benefit from more funding. Deadline: 7 March, 2016
For further information

DEBRA Research project grants
DEBRA has announced a call for research project grant proposals to improve our understanding of the biology and genetics of all forms of Epidermolysis Bullosa (EB), as better understanding can lead to new approaches to diagnose and treat EB. DEBRA International welcomes proposals for co-funding with other organisations, including government, academia, industry or other charities. Please send an electronic copy by e-mail to the DEBRA International Office and one signed hardcopy posted to the address on the website. The deadline for submission is 1 April 2016.
For further information

Offer for financing research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Applicants must e-mail the completed form (including annexes) at the latest the day of the competition deadline to the following address: sgobeil@ctf.ca. Application deadline: May 20, 2016
For further information


Courses & Educational Initiatives

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

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@rrdfoundation.org/www.rrdfoundation.org.

Homocystinurias and defects of folate and methylation metabolism: practical approaches to diagnosis and treatment Date: 29 February – 2 March, 2016
Venue: Prague, Czech Republic

2nd Asia Pacific course: paediatric neurometabolic and movement Disorders Date: 10- 12 June, 2016
Venue: Taipei, Taiwan

Metabolic myopathies course Date: 3-5 November, 2016
Venue: Paris, France

EMA workshop on pre-licencing activities
Date: 9 March, 2016
Venue: Barcelona, Spain

In collaboration with EMA, E-Rare will organize a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 16:00 on the 9 of March 2015 in Barcelona, before the official start of the RE(ACT) meeting. It will be open to all researchers and interested stakeholders.

The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer@agencerecherche.fr for further instructions.

Genomics of Rare Diseases: Beyond the Exome
Date: 13-15 April, 2016
Venue: Cambridge, United Kingdom

Genomics of Rare Disease: Beyond the Exome will present an exciting blend of genomic science and clinical medicine. This conference provides an excellent forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects.
For further information

ExPRESS 2016 Expert Patient and Researcher EURORDIS Summer School
Date: 6-10 June, 2016
Venue: Barcelona, Spain

Patients are taking on ever increasing roles in advocating for medicines development, equal access to treatments across Europe and ensuring that medical information is clear, accurate and comprehensible. In order to help preparing them for these roles and as part of its commitment to empowering people living with rare diseases, EURORDIS launched its own training programme for expert patients in 2008.

The programme has online and face-to face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course.
For further information

4th Rare Diseases Summer School
Date: 13–15 July, 2016
Venue: Zurich, Switzerland

The 4 radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The application deadline is March 31 2016.
For further information


What's on Where?

Linking Life Science Data: Design to Implementation, and Beyond
Date: 18-19 February, 2016
Venue: Vienna, Austria

Open PHACTS will be hosting a two day conference which will include a variety of expert speakers and open discussions on linking data in the life sciences domain.
For further information

BPSU Rare Disease Conference 2016
Date: 23 February, 2016
Venue: Birmingham, United Kingdom

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.
For further information

Multi-stakeholder symposium on improving patient access to rare disease therapies
Date: 24-25 February, 2016
Venue: Brussels, Belgium

EURORDIS and partners will bring together industry, patient leaders, academics, regulators and payers to discuss the current state of play and how to shape a more effective way to address value determination, appraisal, pricing and reimbursement of orphan medicines.
For further information

ELIXIR All Hands 2016
Date: 7 – 10 March, 2016
Venue: Barcelona, Spain

The second ELIXIR All Hands meeting will bring together members of the ELIXIR community from across the ELIXIR Nodes, and collaborators from partner organisations, in order to review ELIXIR achievements and activities so far and discuss plans for the future. Representatives from all ELIXIR Nodes are invited to attend.
For further information

Clinical Innovation & Outsourcing
Date: 9-10 March, 2016
Venue: London, UK

Clinical Outsourcing & Partnering World is the largest industry event focusing on the strategic and operational considerations in clinical outsourcing. It is a place where serious business contacts are made. Attended by senior decision makers, it's a platform which facilitates meetings between your sales force and prospects and it's a cost effective sponsorship package with year round advantage.
For further information

The RE(ACT) Congress
Date: 9-10 March, 2016
Venue: Barcelona, Spain

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.
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

5th International Conference on Myelodysplastic Syndromes
Date: 14-16 April, 2016
Venue: Estoril, Portugal

For further information
8th Alstrom Syndrome International Conference
Date: 12-16 May, 2016
Venue: Massachusetts, USA

This international conference will have a scientific symposium for clinicians and researchers as well as sessions for parents, caretakers and patient organisations.
For further information

17th EMSOS Nurse and Allied professional Group Meeting
Date: 12-16 May, 2016
Venue: Massachusetts, USA

The meeting will be focussing on Ewing sarcoma, margins, pelvic tumours, targeted therapy; open sessions will offer the opportunity to report and discuss the latest results in all fields.
For further information

ECRD 2016 : The European Conference on Rare Diseases & Orphan Products
Date: 26-28 May, 2016
Venue: Edinburgh, United Kingdom

The ECRD is the only event which, from its small beginnings, has united all rare disease stakeholders from all European nations- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases. The ECRD now brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels.
For further information

International Meeting on Spastic Paraparesis and Ataxias
Date: 23-25 June, 2016
Venue: Paris, France

The fifth international meeting on spastic paraparesis and ataxias includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias) and short talks or poster presentations from junior researchers.
For further information

FEPS 2016
Date: 13-14 July, 2016
Venue: Bonn, Germany

The symposium will be a privileged moment to demonstrate through various examples and discuss the pivotal role of Physiological sciences in the discoveries related to rare inherited diseases.
For further information

14th MPS Symposium
Date: 13-14 July, 2016
Venue: Bonn, Germany

In this symposium you get informed about the latest developments in research on the metabolic disease MPS and related lysosomal storage diseases. It is a great forum for discovering what is new in the field of metabolic diseases research.
For further information

European Association of Centres of Medical Ethics Conference
Date: 8 -10 September, 2016
Venue: Leuven, Belgium

The focus of this year’s conference is on a variety of highly relevant ethical issues in health care:
 Organizational Ethics in Health Care: Principles, Cases and Practical Solutions
 Ethical Issues in Care for Older Persons
 Ethical, Legal and Social Developments in Human Genomics
 Ethics and Integrity in Research
For further information

2nd International Conference on New Concepts in B Cell Malignancies
Date: 9-11 September, 2016
Venue: Estoril, Portugal

This conference aims at improving the understanding of the:
• principles and current developments of molecular pathogenesis of Bcell disorders
• the range of prognostic markers and their impact in specific clinical situations
• evolution of treatment principles in Bcell malignancies
• development of promising new agents targeting disease biology
• to improve understanding of key pathways driving expansion of normal vs. neoplastic Bcells
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

Rare metabolic disorders: detection, research, management and treatment
Date: 20-22 September, 2016
Venue: London, United Kingdom

This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
For further information

European Paediatric Stroke Symposium 2016
Date: 21-22 September, 2016
Venue: Lyon, France

The aim of this symposium is to address challenges of these conditions from a plural point of view, and to bring together multilateral experts in the field to reach high-level scientific discussions.
For further information

5th World Congress of Clinical Safety
Date: 21-23 September, 2016
Venue: Massachusetts, USA

The Boston Congress is organized by IARMM to improve and promote high advanced safe and clean science and technology. The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental helth & safety, food safety, and other related safety subjects.
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

World Pharma Pricing and Market Access
Date: 23-24 February, 2016
Venue: London, United Kingdom

Conference with networking opportunities in the area of pharmaceutical pricing and access to drugs.
For further information

6th Annual World Orphan Drug Congress
Date: 21-22 April, 2016
Venue: Barcelona, Spain

Workshops range in topic from market forecasting to pricing & reimbursement, R&D, commercialization, marketing and treatment. You can choose from 8 half day workshops or 2 full-day seminars.
For further information


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE ( RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), 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), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Disclaimer : This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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