30 June 2016 print
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Third National Plan for Rare Diseases for France

At a public session in the National Assembly on June 15, the minister of social affairs and health, Marisol Touraine, has announced that a third national plan for rare diseases would soon be launched, continuing from the previous two plans.

Three million people are affected by rare diseases in France. The first national plan for rare diseases was launched for the period 2005-2008. It was followed by a second plan for 2011-2016. Last February, Plateforme maladies rares had called for a third National Plan for Rare Diseases with an interministerial steering and co-constructed by several stakeholders. LEEM also called for the release of a third plan.

Marisol Touraine has responded to these calls emphasising the government's willingness to "continue in this direction to encourage the participation of French teams in tenders to promote the structuring of the medical care and medical and social." The minister also recalled that "the results of previous plans are encouraging and interesting especially with regard to the care of patients since France is proud to have a unique system, temporary use authorization (ATU) which allows us to handle whatever the cost of disease treatment when necessary." Plateforme maladies rares immediately responded with a press release pointing out the importance of the involvement of all stakeholders in the development of the third plan as well as its interdepartmental governance and with specific means to build a policy that certainly continue current actions, but is also innovative and plural in its vision.
Listen to Députée Dominique Orliac and Minister Marisol Touraine speak on this topic (from 27.30 to 31.40 minutes – in French)
Read the press release of the Platform rare diseases (in French)

EU Policy News

Report on the multi stakeholder for regulation of advanced therapy medicines
The European Medicines Agency (EMA) today published a report from a multi-stakeholder expert meeting to explore possible ways to foster the development of advanced therapy medicinal products (ATMPs) in Europe and expand patients’ access to these new treatments. The meeting brought together leading academics and researchers, representatives from patients’ and healthcare professionals’ organisations, small and large pharmaceutical companies, the investment community, incubators and consortium organisations, health technology assessment (HTA) bodies, national competent authorities and the European Commission.

Ideas and solutions proposed by the different stakeholders are summarised in the meeting report. Some of the recurring themes include the need for early interaction and guidance from regulators, more transparency and information sharing, greater harmonisation between Member States on various aspects of the ATMP legislative framework and measures to tackle inequalities in patient access to ATMP treatments.
Read the report

Four applicants to benefit from the PRIME initiative by the EMA
The European Medicines Agency (EMA) has released today the outcome of the assessment of the first batch of applications received from medicine developers for its PRIME (PRIority MEdicines) scheme. This initiative aims to foster research and development of medicines that have the potential to address an unmet medical need.

The EMA has released the preliminary figures. Out of the 18 applications received and accessed, they have granted access to PRIME for 4 of the applications. Three of the accepted applications are from Small and Medium size Enterprises. They belong to oncology, immunology-rheumatology-transplantation, neurology, and haematology-haemostaseology therapeutic groups.
For more information


National & International Policy Developments
Other European news
Evaluating orphan medicines in Central and Eastern European countries
OrphaNews reports again on the pricing of orphan drugs, but now from the Central and Eastern European (CEE) region perspective, which is presented in the Orphanet Journal of Rare Diseases. In these countries, justification for drugs during health technology assessment (HTA) is an even more important aspect of policy decisions as resources are restricted. The authors perform a literature review that aims to list all potentially relevant value drivers in the reimbursement process of orphan drugs in these countries.

The authors report that clinical evidence of effectiveness played a great role in cost-effectiveness analyses. The authors also describe how equity is treated in these countries in terms of rare diseases. They believe that “the evaluation of orphan medicines should include multiple criteria to appropriately measure the value of these drugs.” The authors encourage a transparent and evidence-based framework for evaluating orphan drugs in the CEE region.
Read the PubMed abstract

Charities raise alarm over changes to UK Cancer Drugs Fund and unreformed NICE
Leading charities have published an open letter to the Prime Minister in The Daily Telegraph expressing ‘deep concern’ over the plans of NICE to take over the Cancer Drugs Fund’s (CDF) while leaving the NICE appraisal methodology unreformed.

Recently the Cancer Drugs Fund’s (CDF) assessment of medicines was handed back to NICE, due to an unfavourable audit of CDF in 2015 (Read in OrphaNews). According to the charities, this this means that “new drugs will now be assessed for use on the Fund by the same system – originally introduced back in 1999 – that failed to make clinically-proven drugs available to NHS patients and led to the CDF being established as a temporary measure in the first place.”

They have outlined their various concerns and ask for a reformed NICE which comprises a sustainable, flexible system that will allow an appropriate assessment of cancer drugs.

NICE believes that the new arrangements for the CDF "will see patients benefitting as promising new and innovative treatments are considered earlier." They believe that it will reduce uncertainity and add greater transparency and excellency in appraisal.
Read the letter by the charities
Read NICE's statement on the Cancer Drug Fund

Other International News
Current policy on Mitochondrial Replacement Techniques
Mitochondrial replacement technique (MRT) aims to prevent the inheritance of the mothers mitochondrial, by swapping the faulty maternal mitochondrial DNA with that of a healthy donor. While United Kingdom is the only country that has approved MRT, other countries across Europe and North America are debating the issue. A review published in Trends in Genetics discusses the possibilities of MRT being adopted more widely.

In October 2015, the UK Parliament approved regulations permitting the licensed clinical use of two techniques for MRT. While in the United States has no federal legislation specifically addressing human genetic modification, there were expert consultations that were held to understand the ethical, legal and policy issues associated with MRT. So far there is no information on future MRT plans in the US. Additionally, the authors note that most developed countries prohibit germline modification procedures based on existing legislation. They also direct the readers that the UNESCO Universal Declaration on the Human Genome and Human Rights as well as the treaty signed by most European states, do not recommend procedures like MRT. The authors highlight that there is a divergence of opinion with regards to MRT and call for talks on international consensus international consensus on the future use and regulation of MRT.

They suggest that Biotechnology Initiative Programme which is coordinated by the Strategic Planning Unit of the Executive Office of the UN Secretary General, could be an appropriate forum to “tackle the complex policy, ethics, and technology diffusion issues characterised by MRT’.
Read the PubMed abstract

FDA delays decision on the Duchenne Muscular Dystrophy drug eteplirsen

The Food and Drug Administration has postponed the decision of granting or denying the marketing authorisation of the drug, eteplirsen, which was developed to treat Duchenne muscular dystrophy.

The agency’s reviewers did not recommend its approval (Read in OrphaNews) but they are under heavy pressure from parents of boys with muscular dystrophy and from members of the United States Congress, who say the drug has allowed some children to continue to walk years after they would otherwise have been confined to wheelchairs. The FDA usually follows the advice of advisory committees, and if they forego it this time will show the increasing influence of patients in these decisions.
For more information

ORDI petition for a dedicated fund for rare disease patients and families in India
Organization for Rare Diseases in India (ORDI) is asking citizens to sign a petition asking the Indian government to set aside a dedicated fund for rare disease patients. According to the petition hosted on Change.org, there about 70 million rare disease patients and families that could benefit from policies catered specifically towards them, which includes a dedicated fund.

According to the petition Indian rare disease patients not only have the challenge on non-availability of treatment options but also have to deal with the exorbitant prices of drugs that are available to them.

Health is a state subject in India, therefore ORDI is currently insisting that chief ministers and health ministers from every state are convinced on the need for a creation of fund pool for rare disease treatment. ORDI believes that every directorate of health and family welfare in the country needs to a have separate section focusing on rare disease.

ORDI urges people to sign the petition and also asks indian citizens to speak to their state representatives.
Read the petition on Change.org
Go to the ORDI website

Rare diseases patients driven to poverty in China
An article published in the Orphanet Journal of Rare Diseases addresses the problem of rare disease expenditure leading to poverty in China. The authors state that despite rare disease and orphan drugs being formally introduced into its health planning, affordability of orphan drugs in China is not addressed. Thus the authors studies the catastrophic expenditure and impoverishment expenditure among patients in China suffering from one of the 7 rare diseases selected by them. According to the authors, taking medications for any of these diseases (which could be nearly 4.6 million patients) leads to catastrophic health expenditure. The authors recommend a “social security mechanism for rare disease patients should be established and specific payment pattern for orphan drugs should be set up.”
Read the PubMed abstract

Genomic Data Commons: a one stop shop for data on cancer
In the United States, the National Cancer Institute (NCI) (part of National Institute of health) has launched the Genomic Data Commons (GDC) - a unified data system that promotes sharing of genomic and clinical data between researchers. The GDC will centralise, standardise and make accessible data from large-scale NCI programs such as The Cancer Genome Atlas (TCGA) and its pediatric equivalent, Therapeutically Applicable Research to Generate Effective Treatments (TARGET). It will also accept submissions of cancer genomic and clinical data from researchers around the world who wish to share their data broadly.

Thus reserchers will be able to access and analyse data from this comprehensive knowledge bank, that is standardised and harmonised, and hence will be able to compare, renalyse and improve assessment of data.

This initiative is the core component of the National Cancer Moonshot and the Precision Medicine Initiative (PMI), and benefits from $70 million allocated to NCI to lead efforts in cancer genomics as part of PMI for Oncology. For more information, please visit the NCI website.
Read the press release

Guidance Documents and Recommendations
MELAS: recommendations for the management of stroke-like episodes
Consult the Pubmed abstract
To read more about "MELAS"

JAMA Neurol. ; 73(5):591-4 ; May 2016
Phenylketonuria: nutrition management guideline
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Mol Genet Metab. ; 118(2):72-83 ; June 2016
Bioinformatics, Registries and Data Management
Protecting and managing personal data: briefing for hospital and healthcare centres
The National Health Service of the United Kingdom (NHS-UK) and HOPE, the European Hospital and Healthcare Federation have released a document for staff working on privacy or information governance in hospitals and other health and care organisations.

It highlights the main changes that can be expected for the health and care sector when meeting the data privacy requirements laid out in the newly approved European Union (EU) Data Protection Regulation. The new Regulation was adopted on 27 April 2016 and must be implemented across the EU by 25 May 2018.

The changing and new definitions especially on process of pseudonymisation, consent procedures, explicit rights to be forgotten, an increased focus on transparency, impact of the regulation on research are some of the key areas of changes.

The NHS and HOPE believe that “understanding the EU Data Protection Regulation is of critical importance to hospitals and other health and care organisations in Europe, as every organisation which handles personal data will have to comply with the new law when processing personal data on patients.”
Read the briefing

Rethinking consent or anonymise approach in the European Union

The importance of consent and/or anonymising data has been paramount which has led to an intense debate on current EU data protection law reform and its potential effect on processing data in medical research. A paper published in the European Journal of Human Genetics examines the ethical and practical issues that circumscribe the ‘consent or anonymise approach’ especially in a data-intensive medical research context. The authors note that in the European Union, the right to data protection and the right to privacy are formalised by an overlapping but different set of rules. Navigating through these on how to consent or anonymise paradigm can be reformed will become increasingly difficulty, according to the authors. They thus offer possible ways forwards within the European Union legal framework on data protection, finally recommending an appropriate research exemption from consent, after the idea is subjected to extensive debate.
Read the PubMed abstract


New Syndromes

Autosomal recessive syndromic intellectual disability disorder caused by variants in TELO2 in six individuals
The authors reported six affected individuals from four families with autosomal recessive intellectual disability, developmental delay, dysmorphic facial features, microcephaly, abnormal movements, and abnormal auditory and visual function. All affected individuals were compound heterozygous for rare variants in TELO2.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(5):909-18 ; May 2016
Intellectual disability with seizures and hypotonia due to pathogenic variants in PIGG in five individuals
The authors presented five affected individuals (from two consanguineous families from Egypt and Pakistan and one non-consanguineous family from Japan) who showed intellectual disability, hypotonia, and early-onset seizures. They identified pathogenic variants in PIGG.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(4):615-26 ; April 2016
A novel syndrome of intellectual disability and hypotonia linked to mutations in TBCK
In a first article, 13 individuals from nine unrelated families affected by variants in TBCK were identified through whole-exome sequencing. All affected individuals were found to share a core phenotype of intellectual disability and hypotonia, and many had seizures and showed brain atrophy and white-matter changes on neuroimaging. Minor non-specific facial dysmorphism was also noted in some individuals, including multiple older children who developed coarse features similar to those of storage disorders. The authors named that disorder ‘TBCK-related intellectual disability syndrome’.
In a second article, the authors reported a syndromic neonatal encephalopathy characterised by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis hypoplasia, and facial dysmorphism. Biallelic inactivating mutations in TBCK were identified by whole-exome sequencing as the cause of this condition in four unrelated families.
Consult the Pubmed abstracts

Am J Hum Genet. ; 98(4):782-8; 772-81 ; April 2016
Novel autosomal recessive syndromic intellectual disability syndrome associated with PUS3 homozygous truncating mutations in a family
In a multiplex consanguineous family, the authors applied autozygosity mapping and exome sequencing and identified a novel homozygous truncating mutation in PUS3 that fully segregates with a recessive form of syndromic intellectual disability. Patients also presented strabismus, gray sclera and Mongolian spots.
Consult the Pubmed abstract

Hum Genet. ; 135(7):707-13 ; July 2016
New syndrome including short stature, developmental delay, and congenital heart defects caused by mutations in TKT
The authors performed whole-exome sequencing in three families, with a total of five affected individuals, ranging in age from 4 to 25 years. They identified a syndrome due to an autosomal-recessively inherited deficiency of TKT. All affected individuals had short stature and were developmentally delayed. Congenital heart defects were noted in four of the five affected individuals, and there was a history of chronic diarrhea and cataracts in the older individuals.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(6):1235-42 ; June 2016
Multiple congenital anomaly syndrome due to homozygous loss-of-function mutations in SMG9 in two families
The authors reported two consanguineous families in which a similar pattern of congenital anomalies, such as cerebellar vermis hypoplasia, cleft lip, hypertelorism or microphthalmia, was found to be caused by homozygous loss-of-function mutations in SMG9.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(4):643-52 ; April 2016
Severe neurodevelopmental disability, hypotonia, and seizures linked to germline de novo mutations in GNB1
Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations in GNB1. These 13 individuals were characterised by a previously unrecognised genetic condition defined by global developmental delay, hypotonia, seizures, ophthalmological manifestations and growth delay.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(5):1001-10 ; May 2016
A unique form of autosomal-recessive congenital stationary night blindness caused by biallelic mutations in GNB3 in a family
Whole-exome sequencing of a family identified biallelic mutations in GNB3. Affected subjects showed an unusual congenital stationary night blindness phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(5):1011-9 ; May 2016
Complicated autosomal-recessive hereditary spastic paraplegia type 76 due to mutations in CAPN1 in nine individuals
The authors performed whole-exome sequencing to analyse a total of nine affected individuals in three families with autosomal-recessive hereditary spastic paraplegia type 76. Rare homozygous and compound-heterozygous nonsense, missense, frameshift, and splice-site mutations in CAPN1 were identified in all affected individuals.
Consult the Pubmed abstract

Am J Hum Genet. ; 98(5):1038-46 ; May 2016Am J Hum Genet. ; 98(5):1038-46 ; May 2016
Neurodevelopmental abnormalities and dysmorphic features associated with de novo mutations in CSNK2A1 in five patients
The authors reported five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioural problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features. Whole-exome sequencing identified de novo missense and canonical splice site mutations in CSNK2A1.
Consult the Pubmed abstract

Hum Genet. ; 135(7):699-705 ; July 2015

New Genes

Autosomal recessive non-syndromic intellectual disability caused by a null mutation in TNIK in two consanguineous families
Consult the Pubmed abstract
To read more about "Autosomal recessive non-syndromic intellectual disability"

Hum Genet. ; 135(7):773-8 ; July 2016
Childhood-onset hyperkinetic movement disorder with striatal lesions associated with mutations in PDE10A
Consult the Pubmed abstracts
Am J Hum Genet. ; 98(4):735-43; 763-71 ; April 2016
Infantile epileptic-dyskinetic encephalopathy due to loss-of-function mutations in FRRS1L
Consult the Pubmed abstract
To read more about "Infantile epileptic-dyskinetic encephalopathy"

Am J Hum Genet. ; 98(6):1249-55 ; June 2016
Genetic syndrome with features that overlap those associated with proximal 1p36 deletions linked to de novo mutations of RERE
Consult the Pubmed abstract
To read more about "1p36 deletion syndrome"

Am J Hum Genet. ; 98(5):963-70 ; May 2016
Duane retraction syndrome, aberrant extraocular muscle innervation and inner-ear defects associated with loss of MAFB function
Consult the Pubmed abstract
To read more about "Duane retraction syndrome"

Am J Hum Genet. ; 98(6):1220-7 ; June 2016
Curry-Jones syndrome caused by a recurrent mosaic mutation in SMO
Consult the Pubmed abstract
To read more about "Curry-Jones syndrome"

Am J Hum Genet. ; 98(6):1256-65 ; June 2016
Aniridia-cerebellar ataxia-intellectual disability syndrome due to recessive and dominant de novo ITPR1 mutations
Consult the Pubmed abstracts
To read more about "Aniridia-cerebellar ataxia-intellectual disability syndrome"

Am J Hum Genet. ; 98(5):971-80; 981-92 ; May 2016
Multiple acyl-CoA dehydrogenase deficiency associated with FLAD1 variants
Consult the Pubmed abstract
To read more about "Multiple acyl-CoA dehydrogenase deficiency"

Am J Hum Genet. ; 98(6):1130-45 ; June 2016
Defects in mitochondrial RNA processing and multiple respiratory chain deficiencies causing hypotonia, lactic acidosis and deafness due to recessive mutations in TRMT10C
Consult the Pubmed abstract
Am J Hum Genet. ; 98(5):993-1000 ; May 2016
Non-syndromic cleft palate associated with missense variants in GRHL3
Consult the Pubmed abstracts
To read more about "Cleft lip with or without cleft palate"
To read more about "Cleft palate"

Am J Hum Genet. ; 98(4):744-54; 755-62 ; April 2016
X-linked spondyloepimetaphyseal dysplasia due to BGN mutations in two families
Consult the Pubmed abstract
To read more about "X-linked spondyloepimetaphyseal dysplasia"

Am J Hum Genet. ; 98(6):1243-8 ; June 2016
Non-syndromic patent arterial duct linked to mutations in PRDM6
Consult the Pubmed abstract
To read more about "Patent arterial duct"

Am J Hum Genet. ; 98(6):1082-91 ; June 2016
Naevus comedonicus syndrome associated with somatic mutations in NEK9
Consult the Pubmed abstract
To read more about "Nevus comedonicus syndrome"

Am J Hum Genet. ; 98(5):1030-7 ; May 2016
Congenital haemangioma due to somatic activating mutations in GNAQ and GNA11
Consult the Pubmed abstract
To read more about "Rapidly involuting congenital hemangioma"
To read more about "Non-involuting congenital hemangioma"

Am J Hum Genet. ; 98(4):789-95 ; April 2016
Squamous cell carcinoma of esophagus linked to mutations in VANGL1, SHANK2, MYBL2, FADD, miR-4707-5p and PCAT1
Consult the Pubmed abstract
To read more about "Squamous cell carcinoma of esophagus"

Am J Hum Genet. ; 98(4):709-27 ; April 2016
Gastric adenocarcinoma and proximal polyposis of the stomach associated with point mutations in APC in six families
Consult the Pubmed abstract
To read more about "Gastric adenocarcinoma and proximal polyposis of the stomach"

Am J Hum Genet. ; 98(5):830-42 ; May 2016
Congenital alveolar capillary dysplasia: ESRP1 as a novel candidate gene
Consult the Pubmed abstract
To read more about "Congenital alveolar capillary dysplasia"

Hum Genet. ; 135(5):569-86 ; May 2016
Sarcoidosis: FCGR3A and FCGR3B copy number variants as risk factors
Consult the Pubmed abstract
To read more about "Sarcoidosis"

Hum Genet. ; 135(7):715-25 ; July 2016

Research in Action

Clinical Research
Lambert-Eaton myasthenic syndrome: amifampridine phosphate is effective and safe
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Lambert-Eaton myasthenic syndrome"

Muscle Nerve ; 53(5):717-25 ; March 2016
Hereditary angioedema: retrospective study of adverse events reported with medications
Consult the abstract
To read more about "Hereditary angioedema"

Orphan Drugs: Research & Reviews ; 2016(6):1-8 ; March 2016
Mucopolysaccharidosis type 1: anti-laronidase antibodies decrease the pharmacodynamics effect of laronidase enzyme replacement therapy
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 1"

Mol Genet Metab. ; 117(4):419-26 ; April 2016
Mucopolysaccharidosis type 1, 2, 4a and 6: enzyme replacement therapy reduces cardiac hypertrophy but has little impact on valvular heart disease
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 1"
To read more about "Mucopolysaccharidosis type 2"
To read more about "Mucopolysaccharidosis type 4A"
To read more about "Mucopolysaccharidosis type 6"

Mol Genet Metab. ; 117(4):431-7 ; April 2016
Sickle cell anaemia: six months of hydroxyurea reduces albuminuria
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

J Am Soc Nephrol. ; 27(6):1847-53 ; June 2016
Pompe disease, late-onset: mitigated results with enzyme replacement therapy
Consult the Pubmed abstract
To read more about "Glycogen storage disease due to acid maltase deficiency, late-onset"

Mol Genet Metab. ; 117(4):413-8 ; April 2016
Primary immunodeficiency disorders: virus-specific T lymphocytes are effective and safe for the treatment of viral infections
Consult the Pubmed abstract
J Allergy Clin Immunol. ; 137(5):1498-1505 ; May 2016
Dysimmune neuromuscular disease: safety of intravenous immunoglobulin in the elderly
Consult the Pubmed abstract
To read more about "Guillain-Barré syndrome"
To read more about "Myasthenia gravis"
To read more about "Multifocal motor neuropathy"
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Muscle Nerve ; 53(5):683-9 ; May 2016
Systemic sclerosis: review on clinical trials design issues
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Curr Rheumatol Rep. ; 18(6):38 ; June 2016
Therapeutic Approaches
Mucolipidosis type II: AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model
Consult the Pubmed abstract
To read more about "Mucolipidosis type II"

Mol Genet Metab. ; 117(4):447-55 ; April 2016
Cystic fibrosis: novel model using pluripotent stem cell-derived human pancreatic ductal epithelial cells
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Stem Cells Transl Med. ; 5(5):572-9 ; May 2016
Autosomal dominant Charcot-Marie-Tooth disease type 2F: new transgenic mouse model
Consult the abstract
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2F"

Journal of Neuromuscular Diseases ; vol. 3, no. 2, pp. 183-200 ; 2016
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B: novel mouse model
Consult the Pubmed abstract
To read more about "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"

Hum Genet. ; 135(7):813-26 ; July 2016
Amyotrophic lateral sclerosis: two new models using human induced pluripotent stem cells
Consult the Pubmed abstracts
To read more about "Amyotrophic lateral sclerosis"

Nat Neurosci. ; 16(4):542-53 ; March 2016
Stem Cell Reports ; 6(4):496-510 ; April 2016
Osteosarcoma: new model from murine bone marrow stromal cells
Consult the Pubmed abstract
To read more about "Osteosarcoma"

Stem Cell Reports ; 6(4):592-606 ; April 2016
Charcot-Marie-Tooth disease type 1A: plasma neurofilament heavy chain is not a useful biomarker
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 1A"

Muscle Nerve ; 53(6):972-5 ; June 2016
3-methylcrotonyl-CoA carboxylase deficiency: C5OH level found on newborn screening by itself is not sufficient for diagnostic
Consult the Pubmed abstract
To read more about "3-methylcrotonyl-CoA carboxylase deficiency"

Mol Genet Metab. ; 118(1):15-20 ; May 2016
Systemic mastocytosis: skin involvement, anaphylaxis and unexplained osteoporosis should trigger analysis for the disease
Consult the Pubmed abstract
To read more about "Systemic mastocytosis"

Eur J Intern Med. ; 30:25-30 ; May 2016
Diagnostic Approaches

Pompe disease: salmeterol enhances the cardiac response to gene therapy in mice
Consult the Pubmed abstract
To read more about "Glycogen storage disease due to acid maltase deficiency"

Mol Genet Metab. ; 118(1):35-40 ; March 2016
Mucopolysaccharidosis type 3A: N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mice
Consult the Pubmed abstract
To read more about "Sanfilippo syndrome type A"

Mol Genet Metab. ; 118(2):100-10 ; June 2016

Patient Management and Therapy
Ataxia-telangiectasia: review on therapeutic approaches
Consult the abstract
To read more about "Ataxia-telangiectasia"

Journal of Rare Disorders: Diagnosis & Therapy ; 2016 (2):41
Vasculitis: review on the treatment
Consult the Pubmed abstract
To read more about "Vasculitis"

Curr Rheumatol Rep. ; 18(7):39 ; July 2016
Primary periodic paralysis: review on dichlorphenamide treatment
Consult the Pubmed abstract
Drugs ; 76(4):501-7 ; March 2016
Neuromuscular disorders: review on therapeutic potential of tricycle-DNA antisense oligonucleotides
Consult the abstract
To read more about "Proximal spinal muscular atrophy type 1"
To read more about "Proximal spinal muscular atrophy type 2"
To read more about "Proximal spinal muscular atrophy type 3"
To read more about "Proximal spinal muscular atrophy type 4"
To read more about "Duchenne muscular dystrophy"
To read more about "Glycogen storage disease due to acid maltase deficiency"

Journal of Neuromuscular Diseases ; 3(2):157-167 ; May 2016
Duchenne muscular dystrophy: review on gene editing
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Genome Med. ; 8(1):59 ; May 2016
Acute myeloid leukaemia: review on molecular therapy
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Nat Rev Clin Oncol. ; 13(5):305-18 ; May 2016
Cushing syndrome: review on genetic and molecular update
Consult the Pubmed abstract
To read more about "Cushing syndrome"

Nat Rev Endocrinol. ; 12(5):255-62 ; May 2016
Congenital cardiovascular malformations: review on cytogenomic aberrations
Consult the abstract
Molecular Syndromology ; 7(2):2016 ; May 2016
Idiopathic pulmonary fibrosis: review on cardiac manifestations
Consult the Pubmed abstract
To read more about "Idiopathic pulmonary fibrosis"

Intractable Rare Dis Res. ; 5(2):70-5 ; May 2016
Granulomatosis with polyangiitis: review on ocular manifestations
Consult the Pubmed abstract
To read more about "Granulomatosis with polyangiitis"
To read more about "Granulomatosis with polyangiitis"

Intractable Rare Dis Res. ; 5(2):61-9 ; May 2016
SAPHO syndrome: review on current developments and clinical treatment
Consult the Pubmed abstract
To read more about "SAPHO syndrome"

Curr Rheumatol Rep. ; 18(6):35 ; June 2016
Kounis syndrome: review on management
Consult the Pubmed abstract
Clin Rev Allergy Immunol. ; [Epub ahead of print] ; April 2016
Stüve-Wiedemann syndrome: review on clinical and genetic aspects
Consult the Pubmed abstract
To read more about "Stüve-Wiedemann syndrome"

Mol Syndromol. ; 7(1):12-8 ; April 2016
Pseudohypoparathyroidism: a review
Consult the Pubmed abstract
To read more about "Pseudohypoparathyroidism"
To read more about "Pseudohypoparathyroidism type 1A"
To read more about "Progressive osseous heteroplasia"
To read more about "Pseudohypoparathyroidism type 1B"
To read more about "Acrodysostosis"

Nat Rev Endocrinol. ; 12(6):347-56 ; June 2016
Connective tissue disorder-associated vasculitis: a review
Consult the Pubmed abstract
To read more about "Secondary vasculitis"

Curr Rheumatol Rep. ; 18(6):31 ; June 2016
Small vessel vasculitides: review on management
Consult the Pubmed abstract
To read more about "Predominantly small-vessel vasculitis"

Curr Rheumatol Rep. ; 18(6):36 ; June 2016
Paediatric mixed connective tissue disease: a review
Consult the Pubmed abstract
To read more about "Mixed connective tissue disease"

Curr Rheumatol Rep. ; 18(5):28 ; May 2016
Small fiber neuropathy: a review
Consult the Pubmed abstract
To read more about "Sodium channelopathy-related small fiber neuropathy"

Muscle Nerve ; 53(5):671-82 ; May 2016
Zika virus disease: a review
Consult the Pubmed abstract
To read more about "Zika virus disease"

Med J Armed Forces India ; 72(2):157-63 ; April 2016
Childhood cancer: review on late endocrine effects
Consult the Pubmed abstract
Nat Rev Endocrinol. ; 12(6):319-36 ; June 2016
Fibrolamellar hepatocellular carcinoma: review on management
Consult the Pubmed abstract
To read more about "Fibrolamellar hepatocellular carcinoma"

World J Surg Oncol. ; 14(1):151 ; May 2016
Special issue of ‘Human Genetics’ on exome sequencing
Consult the special issue
Human Genetics ; 135(6):589-673 ; June 2016
Three 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. Three updated GeneReviews have been published for:
Non-syndromic disorders of testicular development
PTEN hamartoma tumour syndrome
Dyskeratosis congenita


Orphan Drugs
Worldwide collaboration for orphan drug designation
A review of the current collaboration that the European Medicines Agency (EMA) has with other regulators to designate orphan drugs is described in Nature Reviews: Drug Discovery. Since the inception of the possibility of joint applications with the EMA and the United States in 2007, the two agencies have worked together to understand areas of similarity at the time of submission for an orphan drug designation. Even though there are some differences in the way both parties make interpretations, there is a constant effort “to setting the boundaries of a rare disease or condition at the time of designation.” According to the authors, currently ~50% of submissions to the EMA are done in parallel with the FDA, with ~30–40% of applicants using the joint FDA–EMA application form.

The EMA also collaborates with the Ministry of Health, Labour and Welfare/Pharmaceuticals and Medical Devices Agency (MHLW/PMDA) in Japan which began in late 2010, even though the collaboration is limited in comparison to FDA. This is due to several administrative differences, however many strides are being made to make this process feasible which includes an English website for the MHLW and some links to it on the EMA website. According to the authors, there are some similarities with the scientific submission, some evidence of medical plausibility can be interchangeably used even though the prevalence threshold in Japan is different to the one required in Europe.

The authors hope for an increase in the global approach towards orphan medicine as it would mean greater benefits for rare disease patients.
Read the PubMed abstract

Regulatory News
India approves the first stem cell-based drug for Buerger's Disease
The drug controller general of India (DCGI) has granted limited approval for manufacturing and marketing a stem cell based biological drug Stempeucel for the treatment of Buerger’s Disease. Buerger's Disease is a rare and severe disease affecting the blood vessels of the legs. It is characterized by inflammation and occlusion of the vessels of extremities resulting in reduced blood flow to these areas, thus leading to severe pain and ulcers or necrosis. With no effect treatments available till now, the patient in most case would require amputation.

The European Medicinal Agency has classified Stempeucel as an advanced therapeutic medicinal product (ATMP) and designated it as an orphan drug (The drug developed to address rare diseases) for the treatment of Buerger’s Disease.

According to the manufacturer, the Stempeucel treatment is designed to enhance the body's limited capability to restore blood flow in ischemic tissue by reducing inflammation and improving neovascularisation or new blood vessel formation in abnormal tissue.
For more information

Political and Scientific News
Statistical design and analysis of small population group trials
Developing therapeutics for rare disease can often mean clinical trials on a small population. A paper published in the Orphanet Journal of Rare Diseases present their “view on new developments for design and analysis of clinical trials in small population groups, where conventional statistical methods may be inappropriate, e.g., because of lack of power or poor adherence to asymptotic approximations due to sample size restrictions.”

According to the authors the general framework of the EMA/CHMP guideline on small population clinical trials has stimulated research areas and has served the basis of the research activities of three projects, Asterix, IDeAl, and InSPiRe. The authors address various challenges presented by the guideline and areas that they feel needed feasible advances. They believe that “the main results from the three projects will constitute a useful toolbox for improved design and analysis of small population clinical trials.”
Read the Open Access article

Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers
In the Orphanet Journal of Rare Diseases is an article studying what is “considered of value when choosing between hypothetical therapeutic options and to quantify both their benefit-risk preferences and the influence of disease context.”

After studying a variety of rare disease patients and informal caregivers the authors found that on the attributions respondents attributed most importance to drug response, risk of serious side effects, and the ability to conduct usual activities while on treatment when choosing a hypothetical treatment in contrast to attributes related to treatment modalities. They were also willing to accept risks depending on the severity of their disease and access to therapeutic options. This article is a robust demonstration of what really matters to patients and the risks they are willing to assume and is therefore a critically important contribution to the literature.
Read the PubMed abstract


Request for the creation of software for the clinical management of patients to support European Reference Networks
  The European Commission has published a call for tenders of the General Health Directorate (DG-HEALTH) whose goal is to create a computer program dedicated to the clinical management of patients with rare diseases that will support the operation of European reference networks. The deadline for submission of applications is 19 July 2016.
For further information


Ring 14 International Call for Research Grants
Ring14 International yearly solicit international research projects focused on the Ring 14 or chromosome 14 related syndromes. The projects can be basic or pre-clinical, the ultimate goal is to find a cure for these conditions. The Board of Directors of Ring 14 International, is pleased to inform you that the 2016 call for applications has been issued for one-year research project, funded with 50,000 Euros. Deadline: 31 May, 2016
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
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

International Call for Translational Research Projects focused on RNA as therapeutic target or as therapeutic product
AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Translational Research Projects on RNA as therapeutic target or as therapeutic product. This call is open to any research project aimed at accelerating promising research towards innovative therapies for neuromuscular and rare disorders, using RNA-based therapeutic or RNA as therapeutic target. Application deadline for proposals is 28 June 2016; announcement of awards is expected by end of December 2016 - mid January 2017. If you are interested in applying to this new Therapeutic RNA Call, please follow the proposal preparation instructions on the AFM-Téléthon website If you have any queries regarding the call or the application process, please contact Jean-François Briand at jfbriand@afm-telethon.fr or +33 (0)1 69 13 22 29
Science & SciLifeLab Prize for Young Scientists
The Prize is awarded annually to one young scientist for outstanding life science research for which he/she was awarded a doctoral degree in the previous two years. The topic of the entrant's thesis research must be in one of the following categories: Cell and Molecular Biology, Genomics and Proteomics, Ecology and Environment, Translational Medicine. Eligible entrants must have been awarded their doctoral degree in 2014 or 2015, and the subject of their thesis should match one of the Subject Tracks below. The winners from each category will compete for the grand prize.

Prize money: US$30,000 for the grand prize winner, US$10,000 for each of the category winners.
Publication: The grand prize winning essay will be published in Science and essays from the each of the category winners will be published online.
Application deadline: August 1, 2016

Jerome Lejeune Foundation
If you are a researcher investigating on Down syndrome and other 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 (up to 50% of the total amount of the global grant) with trisomy 21 (Down syndrome) and linked pathologies as well as knowledge of the chromosome 21.
For more information . The deadline for receipt of applications is the 14 August 2016.

Fondation René Touraine Fellowships
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

Fondation René Touraine Fellowships
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

FDA providing USD 2 million in new grants for natural history studies in rare diseases
The aim is to collect data on how specific rare diseases progress in individuals over time so that knowledge can inform and support product development and approval. This will be the first time the FDA will provide funding through its Orphan Products Grants to conduct these types of studies for rare diseases. Deadline: 14 October, 2016
For further information


Courses & Educational Initiatives
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

Fifth International Chordoma Research Workshop
Date: 14-15 July, 2016
Venue: Boston, United States

The fifth International Chordoma Research Workshop (ICRW) will provide an opportunity to learn about the latest, unpublished developments in the field and advance thinking about the future of chordoma research. It will also provide a unique venue to interact and exchange ideas with a multidisciplinary group of peers from a variety of fields including basic, translational, and clinical research.
For further information

Summer School Medical Genetics 2016 - From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research
Date: 25-27 July, 2016
Venue: Tuebingen, Germany

This Summer School, will focus on a multi-disciplinary interface, point out synergistic potential, and cover the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems, and to finally guide development of therapies and (personalized) clinical applications. A particular focus will be on neurological disorders such as Parkinson's disease, dystonias, ataxias, and related brain disorders.

The course is tailored towards PhD students and PostDocs working in the fields of biology, neuroscience, biochemistry, experimental medicine, and bioinformatics as well as clinicians, particularly medical doctors at the beginning of their specialization. The application deadline is May 27 2016.
For further information

MSc Programme (Blended) in Inherited Haemoglobin Disorders
This educational Programme is being launched in September 2016. It is a unique Programme, with its faculty including world‐renowned international experts. It is recognized globally and is supported by the European Haematology Association and the International Society of Haematology. You can find more information on the MSc Programme in the following link
The First Summer School 2016 in Metagenomics
Date: 12-16 September, 2016
Venue: Paris, France The French Institute of Bioinformatics, France Génomique and Institut Pasteur are organizing this summer school. The aim of these 4 days workshop will be to give researchers and students an overview of the tools and bioinformatics techniques available for the analysis of next generation sequence data from microbial communities. Its content will focus on the taxonomic assignment and the functional analysis of metatranscriptomic and metagenomic data. The format will comprise a mixture of lectures and hands-on practical tutorials where students will process example data sets in real-time.
For more information

Metabolic Myopathies Course
Target audience and participant profile: Neurologists, neuromuscular specialists, internists, cardiologists, geneticists, pediatricians, biochemists, willing to improve their knowledge in the diagnosis and treatment of metabolic myopathies + differential diagnosis with other inherited or genetic myopathies. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org or visit www.rrd-foundation.org.
Courses offered by Centro Nazionale Malattie Rare
A. 4th International Summer School on Rare Disease and Orphan Drug Registries
Date: 26-28 September, 2016
Venue: Rome, Italy

This Summer School, endorsed by ICORD, will consist of plenary presentations and interactive small-group exercises, according to the Problem-Based Learning methodology.
The course will provide participants with useful tools and methodologies to establish, manage and plan the activities of a registry with an overview of new approaches.

B) RD-Connect BYOD Workshop to Link RD Registries
Date: 29-30 September, 2016
Venue: Rome, Italy

The Workshop will be a hands-on experience, where the attendees work with experts to make their data Findable, Accessible, Interoperable, Re-usable (FAIR). The event will consist of preparatory webinars, brief plenary introductions and practical working groups.
For further information
Both events are open to health professionals, researchers, medical specialists, medical students, registries curators, database managers and representatives of patient associations, who are involved in or intend to establish a rare disease patient registry.
A selection process will be applied based on the participant's background and role with reference to registry activities.
For both initiatives the application deadline is: July 10, 2016.

European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
Date: March, 2017

Venue: Nimes, France

For further information

An Online Educational Resource for Limb Girdle Muscle Weakness
Limb girdle muscle weakness (LGMW) can result from multiple causes. Early and accurate diagnosis is critical to optimal disease management. The diagnosis can involve clinical, electromyogram, and genetic findings. Patient specific multidisciplinary management plans, including genetic counseling, should be developed. Currently, there are drugs available for some conditions. Many providers lack the skills to provide optimal care due to the heterogeneous presentation, complex diagnosis, and rarity of LGMW disorders.
For further information


What's on Where?

19th Retina International World Congress in Taipei, Taiwan
Date: 13-14 July, 2016
Venue: Taipei, Taiwan

The Congress is organised by Retinitis Pigmentosa Taipei assisted by long-time Retina International member, Retina Hong Kong.
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

2016 Osteogenesis Imperfecta Foundation National Conference
Date: 22-24 July, 2016
Venue: Orlando, United States

More than 600 members of the OI community will come together for three days of specialized sessions on managing OI, free medical consultations and fun social events for attendees of all ages!
For further information

2016 Osteogenesis Imperfecta Foundation National Conference
Date: 22-24 July, 2016
Venue: Orlando, United States

More than 600 members of the OI community will come together for three days of specialized sessions on managing OI, free medical consultations and fun social events for attendees of all ages!
For further information

World Federation of Hemophilia
Date: 24-28 July, 2016
Venue: Orlando, United States

This is the largest international meeting for the global bleeding disorders community.
For further information

5th Symposium on ATP1A3 in Disease
Date: 24-28 July, 2016
Venue: Orlando, United States

For further information

3rd European Aniridia Conference
Date: 27-28 August, 2016
Venue: Duisurg, Germany

Goal of the scientifical conference is an increase in knowledge about aniridia and broadening of network between researcher, doctor and scientists on a european scale to enhance the exchange between each other as well as developing future scientific research projects on aniridia as a joint effort.
For further information

13th International conference on Osteogenesis Imperfecta
Date: 27-28 August, 2016
Venue: Duisurg, Germany

The conference provides an international forum for the presentation and discussion of current basic and clinical science in the field of osteogenesis imperfecta in children, adolescents and adults.
For further information

United Leukodystrophy Annual Conference
Date: 27-28 August, 2016
Venue: Duisurg, Germany

This conference will bring together families and medical professionals across all of the leukodystrophies.
For further information

ERS International Congress 2016
Date: 3-7 September, 2016
Venue: London, United Kingdom

Covering key topics in respiratory medicine from across the spectrum of disease areas including TB, lung cancer, pneumonia, cystic fibrosis, COPD, and asthma amongst others, the Congress is the best place to build skills and knowledge through hearing the latest topics in the field.
For further information

27th European Dysmorphology Meeting
Date: 8 -9 September, 2016
Venue: Le Bischenberg

The meeting offers ample opportunities for exchanges and discussion. This is facilitated by the unique setting of the Workshop and the friendly atmosphere. The workshop program includes 88 platform presentations.
For further information

The XLH Symposium 2016
Date: 9 September, 2016
Venue: Paris, France

This event will represent a fantastic occasion for European researchers and clinicians to discuss and share experiences, as well as a good opportunity to initiate new partnerships and identify new research objectives.
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

SSIEM 2016 Annual Symposium
Date: 6 - 8 September, 2016
Venue: Rome, Italy

The theme of the scientific program is “Metabolic pathways, cellular networks and beyond”: the objective of the symposium is to define the future challenges in the field of inborn errors of metabolism and to improve the networking between clinicians, laboratory scientists and basic 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

55th ESPE Annual Meeting
Date: 10-11 September, 2016
Venue: Paris, France

The theme of the meeting will be “Horizons in Paediatric Endocrinology” to capture the evolutionary and self-renewing nature of our specialty. The theme will also help evaluate the new challenges for paediatric endocrinology and discuss new and old medical, scientific and organisational paths.
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

Europe Biobank Week 2016
Date: 12-17 September, 2016
Venue: Vienna, Austria

The Europe Biobank Week is the new platform for a strong debate and collaboration on activities related to biobanking and biopreservation of samples and data for research and development. Biobanking is a specific European strength having become a fundamental component in addressing the ongoing and future requirements particularly of Europe’s health service frameworks including competitiveness and innovativeness of health-related industries. The conference offers keynote lectures, educational sessions and a knowledge-sharing programme. This conference gives a great opportunity to meet biobanking experts from all around the world and to discuss these future issues for biobanking.
For further information

4th International Conference on Oesophageal Atresia
Date: 15 -16 September, 2016
Venue: Sydney, Australia

The Conference program aims to lead to an improved understanding of Oesophageal Atresia, inspire development of innovative therapies, enhance local and international collaborations and help establish well de›ned evidence based standards of care for Oesophageal Atresia.
For further information

4th Annual International Erdheim Chester Disease Medical Symposium
Date: 15 September, 2016
Venue: Paris, France

This social gathering will be an opportunity for fellowship among the Medical Symposium attendees and the ECDGA Board of Directors. We hope you will register to attend.
For further information

4th Annual International Erdheim Chester Disease Patient & Family Gathering
Date: 16 September, 2016
Venue: Paris, France

This gathering will provide opportunities to interact with the Erdheim Chester Disease medical research community and others in the health field. Sessions will be held on topics of interest for both patients and their families.
For further information

The 50th anniversary of the first publication on Rett Syndrome
Date: 15-17 September, 2016
Venue: Vienna, Austria

This conference is open to patients, clinicians, scientists, researchers and other healthcare professionals. Keynote lectures, oral presentations and posters aim at outlining History, (R)Evolution in Rett Syndrome, State of the Art, future trends and developments.
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

Symposium on Late Complications after Childhood Cancer 2016
Date: 22-23 September, 2016
Venue: Copenhagen, Denmark

The 5th European Symposium on Late Complications after Childhood Cancer is the largest European multidisciplinary event on late complications after treatment of childhood cancer. Attracting a worldwide audience, the Copenhagen 2016 symposium will explore and discuss best practices in the detection and management of late complications after treatment of childhood cancer.
For further information

EUCelLEX Final International Conference
Date: 22-23 September, 2016
Venue: Paris, France

This International Conference will cover a vast range of topics, related to how “Engaging stakeholders for responsible Stem Cells research”. The aim is to create a Task Force for improving the collaboration of key stakeholders involved in the questions raised by the use of stem cells.
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

Cilia 2016
Date: 4-7 October, 2016
Venue: Amsterdam, The Netherlands

The EMBO Conference, Cilia 2016, will highlight both scientific and clinical progress, and uniquely integrate patient perspective.
For further information

Danube Conference on Epigenetics
Date: 5-8 October, 2016
Venue: Budapest, Hungary

The main objectives are to bring scientists together from these fields of epigenetics and promote their intensive interdisciplinary interactions facilitated by the medium sized meeting. Therefore the conference program is structured to have a lot of networking opportunity.
For further information

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference
Date: 10 October, 2016
Venue: Vigo, Spain

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference aimed at medical and scientific professionals. Hosted by Professor Diana Valverde, in Vigo, Spain, Monday 10th October 2016. Contact AS EU Managing Director kay.parkinson@alstromsyndrome.eu

The Annual Meeting of the Histiocyte Society
Date: 17-19 October 2016
Venue: Dublin, Ireland

The meeting will feature presentations by several experienced researchers regarding a variety of perspectives on the study and treatment of the histiocytic disorders.
For further information

RareX featuring ICORD 2016
Date: 19-22 October 2016
Venue: Cape Town, South Africa

ICORD, Rare Disease International and the Rare Disease Society of South Africa invite you to ICORD 2016 in Cape Town, South Africa. Taking place in the context of Rare Diseases Week 2016, this is the first time that ICORD will be held in Africa. Join us and contribute to a legacy of prevention, treatment and study of rare diseases in Africa and around the world.
For further information

Cambridge Rare Disease Network (CRDN) 2nd annual International Rare Disease summit
Date: 25 October 2016
Venue: Cambridge, England

This event is aimed at key stakeholders from the International rare disease community, also hosting in parallel a "Round Table of Companies" meeting to initiate a rare disease joint funding strategy. Contact CRDN Events Director jo@camraredisease.org

27th International Conference on Spina Bifida and Hydrocephalus
Date: 28-30 October 2016
Venue: Ghent, Belgium

The ‘Turning Points’ conference will look back on developments in three key areas of activity – Prevention, Health and Care, and Community building. It will also look to the future to determine how we can redouble global efforts to reduce the overall occurrence of both spina bifida and hydrocephalus across all nations; to establish a basic right to care for all individuals born with these conditions, and to build a stronger, more vocal and effective global community of people united by the challenges of spina bifida and hydrocephalus.
For further information

The National Hereditary Hemorrhagic Telangiectasia Patient & Family Conference
Date: 28-30 October 2016
Venue: Boston, United States

The National HHT Patient & Family Conference, which takes place every two years, is an opportunity for Cure HHT to share information with patients and physicians so they can take the initiative to make informed decisions about the treatment and management of HHT.
For further information

International Primary Immunodefiencies Congress
Date: 8-10 November 2017
Venue: Dubai, United Arab Emirates

For further information

First International SYNGAP1 Conference
Date: 30 November – 1 December 2016
Venue: Texas, United States

This conference will utilize a novel multi‐disciplinary approach to bring together patient families, clinicians and researchers as equal stakeholders in order to accelerate research discovery and close the gap to clinical impact.
For further information

World Drug Safety Congress
Date: 14-15 September, 2016
Venue: Munich, Germany

The 9th World Drug Safety Congress Europe 2016 will bring together industry pioneers to explore global challenges in drug safety.
For further information

International Symposium: Rare skin diseases: from clinic to gene and vice versa
Date: 20-21 October 2016
Venue: Madrid, Spain

The symposium is divided into 5 sections and a plenary lecture covering both the state of art in the clinical management of this set of diseases as well as current research and future prospects.
For further information

11th European Cytogenetics Conference 2017
Date: 1-4 July 2017
Venue: Florence, Italy

For further information

Commercial events

The Orphan Drugs Summit
Date: 21-23 September, 2016
Venue: Amsterdam, The Netherlands

Highlights include fast changing national and regional regulations, clinical trial design, patient registries & stakeholder engagement, partnering and establishing financing for future development, establishing a balanced and sustainable pricing and reimbursement foundation, achieving an efficient and timely access to market with equal access for patients around the world.
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.

Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)