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FDA issues draft guidance produced with the help of PPMD on developing drugs for Duchenne Muscular Dystrophy

FDA has issued a draft guidance for industry, “Duchenne Muscular Dystrophy and Related Dystrophinopathies: Developing Drugs for Treatment” to assist drug companies in the clinical development of drugs for the treatment of X linked Duchenne muscular dystrophy (DMD) and related diseases, including Becker muscular dystrophy, DMD associated dilated cardiomyopathy, and symptomatic carrier states in females. This draft guidance addresses FDA’s current thinking regarding the clinical development program and clinical trial designs for drugs to support an indication for the treatment of one or more dystrophinopathies.

The development of this document was preceded and guided by a proposed draft guidance independently prepared by an advocacy group, Parent Project Muscular Dystrophy (PPMD). Below is a summary of a paper describing how PPMD took up the challenge of drafting these guidelines.

FDA has released a press statement stating that they “value(s) PPMD’s effort and input and appreciates the insights provided by the DMD community.” FDA believes that this is an excellent example of collaboration between engaged stakeholders and a beneficial approach to get contributions from patients and caregivers on drug development.

Stakeholders and interested parties may view the Federal Register notice for information on how to submit comments to the public docket.
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Parent Project Muscular Dystrophy takes on the challenge of drafting industry guidelines for DMD
Disappointed with the European Medicinal Agencys’ draft guidance on the clinical investigation of medicinal products for the treatment of Duchenne and Becker muscular dystrophy and the admission of FDAs’ lack of resources to develop the industry guidelines, the Parent Project Muscular Dystrophy (PPMD) embarked on proposing a draft guideline for the same. This process is described in a paper published in the Orphanet Journal of Rare Diseases.

The paper described the groups involved and how they established a vision for the document and developed a benefit/risk analysis to prepare this guidance document. The paper also details that on how the document decided on “how best to evaluate new therapies to bring them to the market efficiently, while calling on sponsors to design trials." Most importantly, the paper details the significance of the draft guidance to the provide extensive benefits to the Duchenne community. The authors encourage other rare disease communities to work towards replicating their work, which according to them is the “best opportunity for the rare disease community to shape the FDA reviews new potential therapies in historically challenging rare disease categories.”
Read the open access article

National & International Policy Developments
Other European news
4th meeting of the Health Technology Assesment Network
4th meeting of the Health Technology Assesment (HTA) Network was held in Brussels on 23 March, 2015. All Member States (MS) and Norway, as well as the EUnetHTA and the European Medicines Agency (EMA) were present. The highlights of this meeting included a presentation by EFPIA of an internal survey on the usage of Joint Work in relation to Health Technology in a sample of European member states. The presentation addressed the issue of how HTA reports at a European level may contribute to the avoidance of duplication of work, and to the greater efficiency of HTA in a national context.

The present landscape of HTAs in Ireland, where there have been recent structural changes, was discussed in another presentation. Here the presenter detailed the actual work done by Health Information and Quality Authority (HIQA) and explained the different roles within their HTA division.

Conclusions from a mapping exercise of HTA addressed the template used, licensing, HTA (appraisal, assessment and cost-effectiveness) and decision uptake. Also discussed was HTA for medical devices- expectations and limits of the EU cooperation on HTA as well as the view of industry and other stakeholders. Finally, a presentation summarising the Innovative Medicines Initiative (IMI) projects regarding European Partnership for health and its objectives explained that their projects will have a focus on patient and societal needs.
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EU Court rescinds orphan drug approval of Kolbam
In the latest twist to the dispute over marketing authorisation of cholic acids treatments for primary bile acid synthesis, the General Court of the European Union has overruled a decision to grant marketing authorisation to ASK Pharmaceuticals' Kolbam.

In 2013, Laboratoires CTRS received approval to market Orphacol, after an extended legal fight, to treat forms of the condition caused by two enzymatic defects. Around the same time, a similar drug Kolbam also received an orphan drug status to treat the same indications as Orphacol. However, after the Committee for Medicinal Products for Human Use (CHMP) ruled Kolbam was not clinically superior to its rival and therefore could not disrupt its first mover orphan drug market exclusivity, the focus shifted to three other forms of the same condition. Kolbam was approved in these indications in 2014, prompting Laboratoires CTRS to dispute the ruling on the grounds that the scope of the label raises the possibility the drug will be used in a way that violates its exclusivity. The court has ruled in favor of Laboratoires CTRS concluding that the approval was contrary to the terms of orphan drug regulations. The European Medicines Agency (EMA) has responded to the ruling by invalidating Kolbam's European Public Assessment Report as the product is no longer authorised in the region.
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Health economic assessment of drugs in France
The French National Authority for Health (Haute Autorite´ de Sante´, or HAS) is commissioned to produce ‘health economic opinions’, that determine the most cost-effective therapeutic strategies, and edit the recommendations accordingly, which is carried out by Economic and Public Health Assessment Committee (Commission Evaluation Economique et de Sante´ Publique, or CEESP). This decision in part as part in response to the French Court of Auditors (Cours des Comptes), which regularly challenged the lack of economic evidence use in pricing decisions in medications. An article published in Market access and health policy describes the mission, structural and functional aspects of CEESP and its impact on health economic assessment of drugs available in France.

The authors provide a detailed view of how the evaluations are performed after evidence on the health economic data is provided by pharmaceutical manufacturers. Also enumerated in the article are the challenges that are faced by CEESP as health economics becomes an “irrevocable part of Health Technology Assessment”, such as including the significance of quality related life years (QALY) - an essential aspect when evaluating orphan drugs - and Incremental Cost-Effectiveness ratio (ICER). The sources of inefficiencies and of confusion as well as lack of standardised appraisal of health economics without cost-effectiveness taken into account are also addressed. Finally the authors provide overview of the future for health economic assessment of drugs in France. They believe that among other schemes an implementation of a pricing threshold, and assessment for a larger number of drugs is in order.
Read the open access article

Other International News
Contributions from Japan towards the development of treatments for Duchenne muscular dystrophy
A study published in Brain & Development explores the contributions of Japanese patients is helping Antisense oligonucleotide (AO)-mediated exon skipping therapy for Duchenne muscular dystrophy (DMD) to reach the stage of marketing authorisation. DMD - a fatal progressive muscle wasting disease is known to be caused by dystrophin gene mutation. According to the authors the first account of the deletion within dystrophin exon 19 was found in 1990 in a Japanese DMD patient. Based on these finding, the authors who also originate from Japan proposed an AO-mediated exon skipping therapy for DMD in 1995. The review emphasised that since then “more than 300 reports on AO-mediated exon skipping therapy for DMD have been published, including at least two a month during the last few years.” The authors believe that the remarkable contributions by Japanese patients and researchers should be recognised for their efforts towards the development of the exon skipping therapy for DMD.
Read the PubMed abstract

United States witnesses tremendous growth in drug dispensing especially in orphan drug expansion in 2014
A short review of medication use in the United States has described the year 2014 as having the largest growth in spending on prescription medications since 2001. Mainly driven by new drugs and augmented by fewer patent expirations, the authors declare that the year 2014 was not only a year of growth, but also a transformative one for the industry. The authors believe that the industry has changed the way it approaches disease treatment, therapeutic discovery and development. Also enumerated in the article are the 18 medications with orphan indications and a trend towards products where pharmacoeconomics enables higher price tags. However, the authors also emphasise that the 9 out of the 18 orphan drugs target diseases where patient populations are less than 10,000.
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Impact of the Orphan Drug Tax Credit on treatments for rare diseases
A report prepared and published for the Biotechnology Industry Organization and the National Organization for Rare Disorders (NORD) uses detailed data on the costs and timeline of drug development to construct an economic model of the impact of the Orphan Drug Tax Credit (ODTC) on the cost of, and investment in, orphan drug development. This type of cost of capital framework is a methodology commonly used to analyse the impacts of changes in tax policy on investment incentives. This report’s key findings are:

" - Without the ODTC, it is estimated that investment in orphan drugs would have been smaller by a third both historically and in the future
- In the absence of the ODTC, 67 orphan drugs, or 33%, would likely not have been developed over the past 30 years.
Going forward, if the ODTC were repealed, it is estimated that 57, or 33%, fewer new orphan drugs would be approved over the next 10 years."

Read the open access article

Guidance Documents and Recommendations
Autoinflammatory diseases: recommendations for the management
Consult the Pubmed abstract
To read more about "Cryopyrin-associated periodic syndrome"
To read more about "Tumor necrosis factor receptor 1 associated periodic syndrome"
To read more about "Mevalonate kinase deficiency"

Ann Rheum Dis. ; [Epub ahead of print] ; June 2015
Gestational trophoblastic diseases: recommendations for the treatment
Consult the Pubmed abstract
Eur J Cancer. ; [Epub ahead of print] ; June 2015
Bioinformatics, Registries and Data Management
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
The development of a concept-recognition procedure that analyses the frequencies of Human Phenotype Ontology (HPO) disease annotations in over five million PubMed abstracts is described in The American Journal of Human Genetics. The authors performed the analysis in several major steps described below.
"(1) Bio-LarK was used to analyse the PubMed-MEDLINE 2014 corpus, which resulted in a total of 5,136,645 abstracts annotated with MeSH terms and phenotypic features.
(2) For each of 3,145 resulting diseases, the frequency and specificity of HPO terms found in the abstract were used for inferring phenotypic annotations.
(3) These annotations were used for producing disease models for each of the diseases.
(4) Medical validation of the annotations was performed on the basis of disease, phenotype, and SNP annotations in GWAS Central for phenotype sharing in common disease.
(5) Validation with OMIM, Orphanet, and DO was used for assessing phenotype sharing between rare and common diseases linked to the same locus."

The authors state that using this procedure the HPO has been able to compile "250,000 phenotypic annotations for over 10,000 rare and common diseases." The authors believe that rare-disease phenotypes will prove to be useful in evaluating and comparing the phenotypic overlap between Mendelian and common disease. They emphasise that this is especially important when common and rare disease share risk alleles or have phenotypic overlap due to its linkage by genomic location.
Read the open access article

Nature Genetics urges authors to publish data in managed public repositories
The editorial of Nature Genetics has stated its preference to largely publish papers that will produce all their data in a public repository such as European Genome-phenome Archive (EGA: described below) or the Genotype and Phenotype (dbGaP). They have made this stance because according to the journal “a considerable proportion of the usefulness and interest of research publications in (genetics) field comes from the data and associated metadata.” The journal recognises that there will be difference in local and national laws which may inhibit the researchers from publishing patient data and sometimes researchers lower resource countries might be at a disadvantage. Notwithstanding these challenges they also believe that “usable repositories have been developed and supported by funders and researchers alike, (and therefore) see no reason to make exceptions or concessions to review or publish research articles—from any part of the world—that lack the most basic access to data.”
Read the open access article

The European Genome-phenome: an EMBL-EBI effort to archive human data consented for biomedical research
An article published in Nature Genetics illustrates the European Genome-phenome Archive (EGA) which was launched by the European Molecular Biology Laboratory’s European Bioinformatics Institute (EMBL-EBI) as a "permanent archive where genetic and phenotypic data can be stored by researchers for specific approved uses and is not fully open for public distribution." At present the EGA stores processed and raw data from many types of experiments which include single nucleotide polymorphism (SNP) and copy number variation (CNV) genotypes, whole genome sequence and phenotype data. This information is collected and distributed in accordance with the consent and confidentiality determined with the research participants, which is then published in conformity with the strict protocols governed by the EGA project.

According to the authors the stored data is provided only to bona fide researchers and used for specific research aims as it can be immensely useful for replication, meta-analysis and many other secondary uses, such as methods development or use as control samples. The article also summarises the similarities and differences of EGA with the database of Genotypes and Phenotypes (dbGaP) provided by NCBI.

According to the authors the collaboration with the Centre for Genome Regulation (CRG) will help support major new EGA data sets. The article also explores several other value-added services provided by the EGA.
Read the open access article

Screening and Testing
Advantanges of comprehensive gene panels as first tier tests over clinical exome sequencing for Mendelian diseases
The authors of an article published in Genome Biology developed a next-generation sequencing-based multiplexing assay of 13 gene panels that encompasses around 3,000 known Mendelian genes and compared it with clinical whole exome sequencing (WES). Termed the Mendeliome, the authors observe that it fared comparably with WES with an overall clinical sensitivity of 43 %. According to the authors “despite missing a significant number of cases, the current version of the Mendeliome assay can account for a large proportion of suspected genetic disorders, and provides significant practical advantages over clinical WES.” Furthermore, the authors state that the cost of these gene panels are considerably lower that WES, depending on the panel, with an exceptionally rapid turnaround time and a straightforward consenting process. The authors believe that the Mendeliome can be an effective first-tier test.
Read the open access article


Ethical, Legal & Social Issues
Quality of life in patients with Fabry disease
An article published in Orphanet Journal of Rare Diseases has analysed the currently available data concerning the impact on quality of life (QoL) for Fabry disease (FD). The authors performed a literature survey to understand “which questionnaires have been used to measure QoL, how patients with FD score compared to the general population, and the effects of enzyme replacement therapy (ERT) on QoL.” Although the authors found that patients with FD had a lower QoL compared to the general population they could not reach any conclusion on the effect of ERT on QoL due to lack of natural history data and a small sample size. The authors propose that an “FD specific QoL questionnaire is developed to accurately monitor patients who suffer from this disease.”
Read the open access article

Impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
Another article in the Orphanet Journal of Rare Diseases measured the health-related quality of life (HRQoL) of patients with Phenylketonuria (PKU) and their families from a large international study. The authors utilised the generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL), and conducted it in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the quality of the patients life. However, the authors found that patients with PKU in these parts of Europe showed good HRQoL with generic and PKU specific measures. Negative impacts of PKU on a patient’s life, including the emotional impact of PKU and its management, were delineated by the PKU-QOLs across all age groups.
Read the open access article

Rethinking patient-reported outcome-based performance measures with the patient in mind
An study published in Value in Health has reported on producing methods that assess quality of care via patient-reported outcome-based performance measures (PRO-PMs) of symptoms, functional status, and quality of life. Although collecting and analysing PRO is a standard measure, there is still a need for practical blueprint to “describe methodological best practices for developing, testing, implementing, and interpreting PRO performance measures that can be used as criteria by measure developers and credentialing organizations to evaluate candidate measures.” Thus the American Medical Association convened - Physician Consortium for Performance Improvement, congregated a Technical Expert Panel for this purpose. Along with identifying 13 PRO programs and 10 guidance document, the article furnishes 9 “methodological best practices for guiding the development and evaluation of PRO measures in performance evaluation” which are described in detail. The authors believe that evaluation of a PRO-PM should not be relegated to whether it is reliable and valid. According to the authors, it should include the patient perspective and hence the context, population and meaningfulness for patients are important points of consideration for PRO-PM evaluation.
Read the PubMed abstract

Outlook of patient-centered outcomes research in the United States
A related article describes patient-centred outcome research in the United States in the current context. The authors state that there is a large body of medical evidence which does not reach clinical practice in many cases. The authors believe that in order to generate better health outcomes, evidence has to be put in the hands of the clinician, and into practice. To address this concern, USD 100 million has been earmarked by the Affordable Care Act to the Agency for Healthcare Research and Quality (AHRQ), towards dissemination and implemention of Patient-centred outcomes research (PCOR) evidence. The authors believe that AHRQ will rely on its vast experience and long history in both generating new knowledge and facilitating research finding uptake. The authors detail that AHRQ has passed on the generation of the content of evidence to the Patient-Centered Outcomes Research Institute. AHRQ will work towards communication of the findings with the use of Evidence-based practice center program, Effective Health Care Program and through several web-based, interactive material. The authors note that since establishing an environment receptive to PCOR is a critical need and a challenging issue, much of AHRQs’ work will be towards developing context for evidence and practice improvement.
Read the PubMed abstract


New Syndromes

New mendelian disorder with pleiotropic defects of hematopoietic and non-hematopoietic immunity caused by biallelic mutations in DOCK2
The authors performed genetic and cellular immunologic studies involving five unrelated children with early-onset invasive bacterial and viral infections, lymphopenia, and defective T-cell, B-cell, and natural killer-cell responses. Two patients died early in childhood; after allogeneic hematopoietic stem-cell transplantation, the other three had normalization of T-cell function and clinical improvement. They identified biallelic mutations in DOCK2 in these five patients.
Consult the Pubmed abstract

N Engl J Med. ; 372(25):2409-22 ; June 2015
Congenital language disorder, growth retardation, intellectual disability, difficulty in standing and walking, and incontinence linked to ABCD1 and DACH2 mutations in two brothers
The authors reported on two brothers with a distinct syndromic phenotype characterized by congenital language disorder, growth retardation, intellectual disability, difficulty in standing and walking, and urinary and fecal incontinence. Exome sequencing revealed novel mutations in ABCD1 and DACH2 genes in both brothers. Plasma levels of very-long-chain fatty acids were increased in both brothers, suggesting a diagnosis of adrenoleukodystrophy; however, their phenotype was not compatible with any reported forms of adrenoleukodystrophy.
Consult the Pubmed abstract

BMC Med Genet. ; 15:105 ; September 2015
Severe intellectual disability and microcephaly caused by SLC1A4 mutations
Two articles described a novel neurogenic disorder manifesting with significant intellectual disability, severe postnatal microcephaly, spasticity and thin corpus callosum. In both articles, the authors identified SLC1A4 as the disease causing gene.
Consult the Pubmed abstracts

Clin Genet. ; 88(1):E1-4, [Epub ahead of print] ; July 2015
19p13.3 microduplication syndrome with intrauterine growth retardation, microcephaly, motor and speech delay, intellectual disability, and dysmorphic features
This paper described the presence of an interstitial pure duplication of 19p13.3 in a patient with intellectual disability. The discovery of the same chromosomal alteration in a first-degree cousin of this patient led the authors to investigate the presence of insertional translocations, which were consequently found in three family generations. The same duplication was found in three intellectually disabled patients and among the translocation carrier family members a very high incidence of miscarriages were reported. A review of other published cases has allowed the authors to find three other patients with a similar pure duplication, all of them sharing some common clinical findings such as intrauterine growth retardation, microcephaly, motor and speech delay, moderate to severe intellectual disability, and dysmorphic features.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(7):1614-20 ; July 2014
Novel actinopathy with scapuloperoneal myopathy associated with ACTA1 mutation in fourteen individuals
Fourteen affected individuals in a 6-generation family with a progressive scapuloperoneal disorder were evaluated. Clinical findings included progressive muscle weakness in an initially scapuloperoneal and distal distribution, including wrist extensor weakness, finger and foot drop, scapular winging, mild facial weakness, Achilles tendon contractures, and diminished or absent deep tendon reflexes. Both age at onset and progression of the disease showed clinical variability within the family. Muscle biopsy specimens demonstrated type I fiber atrophy and trabeculated fibers without nemaline rods. Analysis of exome sequences revealed missense mutation of ACTA1.
Consult the Pubmed abstract

JAMA Neurol. ; 72(6):689-98 ; June 2015
Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces caused by a germline MTOR mutation
Unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(7):1659-67 ; July 2014
Recurrent acute liver failure with onset in infancy due to biallelic mutations in NBAS
Exome sequencing in five unrelated individuals with fever-dependent recurrent acute liver failure revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with recurrent acute liver failure or acute liver failure identified compound heterozygous mutations in six additional individuals from five families.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(1):163-9 ; July 2015

New Genes

Hypertelorism, Teebi type caused by missense mutation in SPECC1L in two unrelated families
Consult the Pubmed abstract
To read more about "Hypertelorism, Teebi type"

Am J Med Genet A. ; [Epub ahead of print] ; June 2015
Microcephaly syndrome due to mutations in MFSD2A
Consult the Pubmed abstracts
To read more about "Autosomal recessive primary microcephaly"

Am J Hum Genet. ; 96(6):1001-7 ; June 2015
Nat Genet. ; 47(7):814-7 ; July 2015
Ablepharon macrostomia syndrome and Barber-Say syndrome caused by recurrent mutations in TWIST2
Consult the Pubmed abstract
To read more about "Ablepharon macrostomia syndrome"
To read more about "Barber-Say syndrome"

Am J Hum Genet. ; 97(1):99-110 ; July 2015
Du Pan acromesomelic dysplasia due to a hypomorphic BMPR1B mutation
Consult the Pubmed abstract
To read more about "Fibular aplasia - complex brachydactyly"

Orphanet J Rare Dis. ; 10:84 ; June 2015
Primary ciliary dyskinesia linked to RSPH3 mutations in five families
Consult the Pubmed abstract
To read more about "Primary ciliary dyskinesia"

Am J Hum Genet. ; 97(1):153-62 ; July 2015
Rett syndrome-like phenotype caused by de novo SHANK3 mutation in a female patient
Consult the Pubmed abstract
To read more about "Rett syndrome"

Am J Med Genet A. ; 167(7):1593-6 ; July 2015
Congenital insensitivity to pain associated with PRDM12 homozygous mutations in 11 families
Consult the Pubmed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 5"

Nat Genet. ; 47(7):803-8 ; July 2015
Larsen-like osseous dysplasia with short stature linked to B3GAT3 mutation in a consanguineous clan from the island of Nias, Indonesia
Consult the Pubmed abstract
To read more about "Larsen-like osseous dysplasia - short stature"

Hum Genet. ; 134(7):691-704 ; July 2015
Distal hereditary motor neuropathy caused by a SIGMAR1 splice-site mutation in three individuals from a Chinese family
Consult the Pubmed abstract
To read more about "Distal hereditary motor neuropathy, Jerash type"

Neurology ; 84(24):2430-7 ; June 2015
Adult-onset mitochondrial encephalomyopathy due to compound-heterozygous RNASEH1 mutations
Consult the Pubmed abstract
To read more about "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"

Am J Hum Genet. ; 97(1):186-93 ; July 2015
Toriello-Lacassie-Droste syndrome is a mosaic RASopathy associated with KRAS alterations
Consult the Pubmed abstract
To read more about "Toriello-Lacassie-Droste syndrome"

Am J Med Genet A. ; 167(7):1429-35 ; July 2015
Achromatopsia caused by homozygous and compound-heterozygous mutations in ATF6
Consult the Pubmed abstract
To read more about "Achromatopsia"

Nat Genet. ; 47(7):757-65 ; July 2015
Common variable immunodeficiency might be associated with rare variants at the FUS/ITGAM locus on 16p11.2
Consult the Pubmed abstract
To read more about "Common variable immunodeficiency"

J Allergy Clin Immunol. ; 135(6):1569-77 ; June 2015
Patent arterial duct: BMP9 and BMP10 could be involved in the proper closure of the ductus arteriosus
Consult the Pubmed abstract
To read more about "Patent arterial duct"

Proc Natl Acad Sci U S A. ; 112(25):E3207-15 ; June 2015
Stevens-Johnson syndrome and toxic epidermal necrolysis: IKZF1 as new susceptibility gene
Consult the Pubmed abstract
To read more about "Stevens-Johnson syndrome"
To read more about "Toxic epidermal necrolysis"

J Allergy Clin Immunol. ; 135(6):1538-1545.e17 ; June 2015

Research in Action
Clinical Research
Idiopathic steroid-resistant nephrotic syndrome: mycophenolate mofetil administration following rituximab may be an effective therapy in children
Consult the Pubmed abstract
To read more about "Familial idiopathic steroid-resistant nephrotic syndrome"
To read more about "Sporadic idiopathic steroid-resistant nephrotic syndrome"

Pediatrics ; [Epub ahead of print] ; June 2015
Leber congenital amaurosis: improvement and decline in vision with gene therapy
Consult the Pubmed abstract
To read more about "Leber congenital amaurosis"

N Engl J Med. ; 372(20):1920-6 ; May 2015
Myelodysplastic syndromes: deferasirox is a safe, effective treatment that can lead to transfusion independence
Consult the Pubmed abstract
Eur J Haematol. ; 95(1):52-6 ; July 2015
T-cell prolymphocytic leukemia: epigenetic therapy overcomes treatment resistance and can lead to remission
Consult the Pubmed abstract
To read more about "T-cell prolymphocytic leukemia"

Sci Transl Med. ; 7(293):293ra102 ; June 2015
Primary central nervous system lymphoma: autologous hematopoietic stem cell transplantation is a safe and efficient treatment option
Consult the Pubmed abstract
To read more about "Primary central nervous system lymphoma"

Eur J Haematol. ; 95(1):75-82 ; July 2015
Dermatomyositis: retrospective study of 100 patients
Consult the Pubmed abstract
To read more about "Dermatomyositis"

Neuromuscul Disord. ; 25(8):625-31 ; August 2015
Therapeutic Approaches

A sand fly salivary protein vaccine shows efficacy against vector-transmitted cutaneous leishmaniasis in nonhuman primates
Consult the Pubmed abstract
To read more about "Leishmaniasis"

Sci Transl Med. ; 7(290):290ra90 ; June 2015
Metachromatic leukodystrophy: anti-inflammatory therapy with simvastatin improves neuroinflammation and central nervous system function in a mouse model
Consult the Pubmed abstract
To read more about "Metachromatic leukodystrophy"

Mol Ther. ; 23(7):1160-8 ; July 2015
Werner syndrome: a novel stem cell model
Consult the Pubmed abstract
To read more about "Werner syndrome"

Science ; 348(6239):1160-3 ; June 2015
Diagnostic Approaches

Niemann-Pick disease type C: lyso-sphingomyelin-509, a novel, highly sensitive and specific biomarker for diagnosis
Id: 853 Consult the Pubmed abstract PMID: 26082315 Orphanet J Rare Dis. 2015 Jun 17;10:78
To read more about "Niemann-Pick disease type C"

Orphanet J Rare Dis. ; 10:78 ; June 2015
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life thanks to the family context and syndactyly or unilateral renal agenesis detection by fetal ultrasound
Consult the Pubmed abstract
To read more about "Kallmann syndrome"

Orphanet J Rare Dis. ; 10:71 ; June 2015
Glycogen storage disease due to acid maltase deficiency: dried blood spot tests are useful and reliable screening tools
Consult the Pubmed abstract
To read more about "Glycogen storage disease due to acid maltase deficiency"

Neuromuscul Disord. ; 25(7):548-53 ; July 2015
Charcot-Marie-Tooth disease type 1A: electromyographic tendon reflex recording is an accurate and comfortable method for diagnosis
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 1A"

Muscle Nerve. ; 52(1):39-44 ; July 2015
Myasthenia gravis: cell-based assay is a useful procedure in the routine diagnosis of children
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

JAMA Neurol. ; 72(6):642-9 ; June 2015
Pediatric musculoskeletal soft tissue tumours: a review on recent advances in MRI methodology
Consult the Pubmed abstract
Pediatrics ; [Epub ahead of print] ; June 2015
Squamous cell carcinoma of head and neck: tumour DNA in the saliva and plasma as a potentially valuable biomarker for detection
Consult the Pubmed abstract
To read more about "Squamous cell carcinoma of head and neck"

Sci Transl Med. ; 7(293):293ra104 ; June 2015

Patient Management and Therapy
Cystic fibrosis: Cochrane review on physical exercise training
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 6:CD002768 ; June 2015
Cystic fibrosis: Cochrane review on positive expiratory pressure for airway clearance
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 6:CD003147 ; June 2015
Lysosomal storage disorders: review on pharmacological chaperone therapy
Consult the Pubmed abstract
Mol Ther. ; 23(7):1138-48 ; July 2015
Hemolytic anemia due to red cell pyruvate kinase deficiency: review on treatments
Consult the Pubmed abstract
To read more about "Hemolytic anemia due to red cell pyruvate kinase deficiency"

Am J Hematol. ; [Epub ahead of print] ; June 2015
Retinitis pigmentosa: review on pharmacological approaches
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Prog Retin Eye Res. ; [Epub ahead of print] ; June 2015
Paediatric rheumatology: review on vaccination
Consult the Pubmed abstract
Curr Rheumatol Rep. ; 17(7):519 ; July 2015
Torsion dystonia: review on brain stimulation
Consult the Pubmed abstract
JAMA Neurol. ; 72(6):713-9 ; June 2015
Hepatocellular carcinoma: review on targeted therapies
Consult the Pubmed abstract
To read more about "Hepatocellular carcinoma"

Nat Rev Clin Oncol. ; 12(7):408-24 ; July 2015
Low-grade gliomas: Cochrane review on early versus delayed post-operative radiotherapy treatment
Consult the Pubmed abstract
Cochrane Database Syst Rev. ; 6:CD009229 ; June 2015
Bardet-Biedl syndrome: a review
Consult the abstract
To read more about "Bardet-Biedl syndrome"

New Horizons in Translational Medicine ; 2(4–5):102–109 ; May-July, 2015
Cornelia de Lange syndrome: a review
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Clin Genet. ; 88(1):1-12 ; July 2015
Fanconi anemia: a review
Consult the Pubmed abstract
To read more about "Fanconi anemia"

Clin Genet. ; 88(1):13-24 ; July 2015
Aicardi-Goutières syndrome: a review
Consult the Pubmed abstract
To read more about "Aicardi-Goutières syndrome"

Nat Rev Immunol. ; 15(7):429-40 ; July 2015
Isaac syndrome: a review
Consult the Pubmed abstract
To read more about "Isaac syndrome"

Muscle Nerve. ; 52(1):5-12 ; July 2015
Pyoderma gangrenosum: a review on challenges and solutions
Consult the Pubmed abstract
To read more about "Pyoderma gangrenosum"

Clin Cosmet Investig Dermatol. ; 8:285-93 ; May 2015
Adult-onset foveomacular vitelliform dystrophy: a review
Consult the Pubmed abstract
To read more about "Adult-onset foveomacular vitelliform dystrophy"

Prog Retin Eye Res. ; 47:64-85 ; July 2015
Leber hereditary optic neuropathy: a review
Consult the Pubmed abstract
To read more about "Leber hereditary optic neuropathy"

Clin Ophthalmol. ; 9:1165-76 ; June 2015
Myelodysplastic syndromes: review on molecular pathogenesis
Consult the Pubmed abstract
Eur J Haematol. ; 95(1):3-15 ; July 2015
Plasma cell leukemia: a review
Consult the Pubmed abstract
Eur J Haematol. ; 95(1):16-26 ; July 2015
One new and six 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. One new GeneReviews has been published for:
Prolidase deficiency

Six updated GeneReviews have been published for:
DNM2-related intermediate Charcot-Marie-Tooth neuropathy
Episodic ataxia type 1
Multiple endocrine neoplasia type 2
Acid sphingomyelinase deficiency
Adenine phosphoribosyltransferase deficiency
Long QT syndrome


Orphan Drugs
Regulatory News

EMA recommends Strensiq for hypophosphatasia – a rare bone disease
The European Medicines Agency (EMA) has recommended granting a marketing authorisation under exceptional circumstances for Strensiq (asfotase alfa), for the long term treatment of hypophosphatasia, a rare inherited metabolic disorder affecting the bones, in patients who have developed the disease in childhood. Patients with hypophosphatasia have symptoms such as early loss of teeth, malformed bones and frequent bone fractures. This disease can be life threatening when it affects unborn babies or infants, because of the incomplete development of their bones and additional complications such as respiratory problems. When it develops later in life, the disease is generally not fatal but can be highly debilitating.

Hypophosphatasia is caused by defects in the gene responsible for producing ‘alkaline phosphatise (ALP)’, an enzyme that plays a key role in creating and maintaining healthy bones, and managing calcium and phosphate in the body. Strensiq, the first therapy for this disease, its active substance is a modified copy of the human ALP enzyme and serves as a replacement for the defective enzyme. Strensiqs’ data on the efficacy and safety are limited due to the extreme rarity of the disease due to which CHMP requires the applicant to collect further data on its clinical efficacy and safety and submit these data regularly for review by the Committee after the granting of a marketing authorisation.
For further information

EMA recommends Kanuma - enzyme replacement therapy for lysosomal acid lipase deficiency
Kanuma (sebelipase alfa), is first treatment for rare life threatening genetic disease causing multiple organ damage recommended by the European Medicines Agency (EMA) to granting a marketing authorisation for the treatment of lysosomal acid lipase (LAL) deficiency. LAL is a rare life threatening inherited condition with wide ranging symptoms such as growth failure, enlarged liver, diarrhoea and malabsorption. LAL deficiency occurs when the body does not produce enough active lysosomal acid lipase (LAL), an enzyme which breaks down fatty material, leading to a build up of fatty material in a number of vital body organs including the liver and blood vessels.

Kanuma’s active substance is sebelipase alfa, a recombinant lysosomal human acid lipase, which is effective in replacing the activity of the missing enzyme. There are different types of LAL deficiency with the disease in infants, also called Wolman disease, being the most severe. In its most severe form, the disease is usually fatal in the first year of life. Due to the lack of treatment and the high death rate in infants under the age of one, EMA’s Committee for Medicinal Products for Human Use (CHMP) decided to speed up the evaluation of this medicine and recommended marketing authorisation following an accelerated assessment. Kanuma is indicated for long term enzyme replacement therapy (ERT) in infants, children and adult patients.
For further information

Political and Scientific News
American Society of Clinical Oncology presents a statement on the conceptual framework to assess the value of cancer treatment options: open for public comment
The disquiet created by the rapid escalation in the price of cancer drugs, has led the American Society of Clinical Oncology (ASCO) to discuss a new method for doctors and patients to evaluate different treatments - one that pointedly includes a medicine’s cost as well as its effectiveness and side effects. Calling it the “value framework,” ACSO believes it is part of a change in the mentality of doctors, who once largely chose drugs based on their medical attributes alone even though many cancer patients in the United States face severe financial strain, even bankruptcy in some cases. The detailed framework is now available as an open access articles in the Journal of Clinical Oncology that will now be open for public comment. Comments may be submitted through August 21, 2015, at www.asco.org/value.

"The framework computes a score — called the net health benefit — based on clinical trial data. Drugs for advanced cancer are given a score from 0 to 130. Up to 80 of the points are based on a drug’s effectiveness in prolonging lives, delaying the worsening of cancer or shrinking tumours. Then up to 20 points can be added or subtracted based on side effects. And up to 30 bonus points can be granted if the drug relieves cancer symptoms or allows a patient to go without treatment for a period of time."

The costs of the drug are listed separately, rather than incorporated into the final score for a drug as authors stated that patients wanted to know how medically effective a drug is therefore adding the cost into an overall rating would obfuscate that information.

On the basis of the comments provided by the public, ASCO envisions publishing "additional iterations of the framework, practical applications, recommendations regarding the additional evidence needed to develop the most useful value tools, and more detailed examinations of value in these and other disease states."
Read the article

Evaluation of the effectiveness, safety and costs of orphan drugs in Europe
A study published in BMJ evaluated orphan drugs on multiple levels: clinical effectiveness, annual cost, cost as compared to their generic equivalents, and relationships between orphan drug disease prevalence and annual costs. The authors identified 74 orphan drugs with marketing authorisation in Europe, out of which none had high quality evidence for clinical effectiveness. Most showed moderate effectiveness but serious adverse events were reported in 86.5% of the drugs analysed. They also found a large price differential between the orphan drug and its much cheaper generic equivalent. Finally they found an inverse relationship between disease prevalence and cost (largely due to ultra orphan drugs) and higher price tags on drugs created more recently than the ones that received marketing authorisation a decade ago. In conclusion, the authors state that “there is inconsistency in the quality of evidence of approved orphan drugs, and there is no clear mechanism for determining their prices.”
Read the open access article



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

Call 4 Proposals (2015): Research Osteogenesis Imperfecta (OI)
The aim of this call is to (co) fund projects that will generate better treatment of Osteogenesis Imperfecta. Researchers responding to this call can come from any country. A wide range of treatment or research strategies will be considered. No area will be excluded as long as the quality of life of people with OI can be improved in a tangible and sustainable manner. All disciplines that contribute to the wellbeing of people with OI are invited to join. Creation of alliances and partnerships across national boundaries and medical institutions are explicitly welcomed, especially if they inclue collaboration with a partner form The Netherlands. Application deadline: 15 July 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. This is a unique opportunity for a motivated individual who wishes to further develop his/her career in biomedical research and his/her experience of multinational research projects. The ECRIN Capacity Project Manager will be in charge of the project management for the structuring projects with ECRIN involvement.
For further information

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


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

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

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

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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