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The International Rare Diseases Research Consortium announces its second conference with renowned speakers

The second conference, organised by the International Rare Diseases Research Consortium (IRDiRC), will be held on 7-9 November 2014 in Shenzhen, China, in collaboration with the Beijing Genomics Institute (BGI).

IRDiRC, launched in April 2011, is dedicated to finding treatments and diagnoses for rare diseases through facilitating partnerships between researchers and organisations investing in research on rare diseases. IRDiRC aims to achieve two main objectives by the year 2020, namely contribute towards delivering 200 new therapies for rare diseases and developing the means to diagnose most rare diseases. The first IRDiRC conference took place in April 2013 in Dublin, Ireland.

BGI, founded in Beijing in September 1999 and relocated to Shenzhen in 2007, aims to support the development of science and technology, build strong research teams and promote the development of scientific partnerships in the field of genomics. BGI projects include, among others, sequencing 1% of the human genome for the International Human Genome Project.

The conference will gather top scientists from Europe, North America and Asia for dynamic exchanges on knowledge and expertise. The event will also include an educational track. The ambition of this conference is to provide researchers with opportunities to establish new collaborations and confront different cultural approaches to the challenges posed by rare diseases.

The conference will take place at the Futian Sheraton Hotel, Great China International Exchange Square, in Futian District.
Shenzhen, north of Hong Kong, is a coastal garden city, renowned for its particularly pleasant climate in November, delicious local cuisine, shopping and tourism in a friendly environment.
Travel to the hotel takes 30 minutes from Shenzhen Bao’an International Airport (SZX) and one hour from Hong Kong International Airport (HKG).
You may need a valid passport and visa to travel to China. Please contact the embassy of your country for more information.
Registration for this event will open shortly.
Access the conference website


National & International Policy Developments
Other European news
Chartering medical tourism the legal way
Regulation (EC) 883/2004 and European directive 2011/24/EU were to be implemented by 2010 and October 2013, respectively, in order to facilitate cross-border access to health care services between member states. European countries have not all adopted equal health policies concerning access to and reimbursement of orphan drugs. For instance, some countries, such as France and the Netherlands, have issued lists of approved orphan drugs and levels of reimbursement based on authorised rare disease medicinal products in Europe; Denmark provides treatment and reimbursement on a case by case basis, while Eastern European and Baltic countries offer only a few partially reimbursed orphan drugs.

Directive 2011/24/EU “gives patients with rare diseases, under limited conditions, the right to receive medical treatment in another member state reimbursed by the patients’ member state of affiliation”. In other words, rare disease patients are authorised to seek health care services in another member state if their country cannot provide the treatment. If the treatment is available in their country of affiliation, but is not reimbursed, the treatment received in another member state will not be reimbursed.

While European directive 2011/24/EU offers great hope for rare disease patients, the authors of this first study of the newly adopted law, published in Orphan Drugs: Research and Reviews (click here to download full open access article), suggest that it is still too early to measure its impact. The article questions whether the directive will put further pressure on member states to improve access to orphan drugs for rare disease patients, or whether encouraging cross-border treatment access and reimbursement could push orphan drug prices unreasonably high, regardless of a country’s economy.

Money allocated for controversial stem cell therapy may be diverted to rare disease research
Italy's health ministry announced in October that the Stamina Foundation - the foundation that demanded funds to test its fraudulent stem cell treatment on rare disease patients - will be banned from performing its treatment. Initially €3 million were earmarked for Stamina’s stem-cell treatment, due to public pressure. However, the outrage of the scientific community around the world, over any proposal to fund their controversial claim to cure rare disease patients with their stem cell protocol, took precedence. These trials have now been suspended and Stamina Foundation has been stripped of its non-profit status. In addition, the head of the foundation, Davide Vannoni, a former psychology lecturer, was indicted earlier this year for alleged attempted fraud in the Piedmont Region in Italy (for further information, read past article "Controversial stem-cell treatment in Italy: the debacle continues" in Orphanews, 18th January)

Now the Health Minister Beatrice Lorenzin has announced that the money earmarked for Stamina should be diverted to rare-disease research, the decision of which will depend on the recommendation of the scientific committee appointed to review the contentious stem cell protocol.

Other International News
The school of clinical trials for rare disorders

Recruiting and retaining patients in clinical trials on rare diseases are typically challenging exercises for a number of reasons: limited numbers of affected individuals, disease severity and lack of autonomy, diagnostic difficulties and logistics. Practical aspects of enrolling rare disease patients have been explored in a case study on current clinical trials for the treatment of Phenylketonuria (PKU), which causes severe cognitive impairment and neurological repercussions. Symptoms can be reduced through strict dietary restrictions and treatment with Kuvan®, approved in 2007 in the US and in 2008 in Europe.

The authors of an article published in the Journal of genetic counceling (consult the PubMed abstract) draw on the PKU experience to highlight the importance of connecting clinicians and physicians in order to identify potential patients for enrolment in rare disease clinical trials. Above all, the authors believe that communication with medical professionals and with patients is an essential part of engaging all parties involved, in an informed manner. The article suggests that clinics can use a number of strategies to communicate and educate patients and staff on clinical trials, from regular clinician-patient discussions to educational events and videos, as well as the use of websites and social media to involve and support rare disease communities. The study highlights that retaining patients in clinical trials depends very much on the degree of support and follow-up contact between clinicians and patients. The authors further emphasise that establishing a strong partnership between patients and their families, medical staff, social workers, patient advocacy groups and study sponsors could prove to be fundamental in sustaining long term solutions for rare diseases.

Indian court awards rare disease patient free medical care

In India’s first landmark judgement on medical aid for rare diseases, the Delhi high court today directed the Delhi government to provide monthly medical treatment, free of cost, to a child afflicted with a rare disease (Gaucher’s disease). This, the court said, would be in fulfilment of the state’s constitutional obligations of free medical aid to economically marginalised sections of society. The case was brought about by the father of the child who could not afford the burden of enzyme replacement therapy costing Rs 6 lakh ($USD 12,000) per month, necessary for lifelong treatment for the rare disease. Although there is no provision for universal healthcare in India, this decision is being seen as one of the factors which might influence the government towards policies for healthcare coverage, especially for rare disease patients.
For further information

Guidance Documents and Recommendations
When incidental findings become substantial problems

Since genome sequencing has become increasingly accessible, patients have benefited from early disease detection and, hence, early treatment where available. Treatment availability - or lack of - is the very reason health communities have contested past recommendations from the American College of Medical Genetics and Genomics (ACMG) on screening patients for a wide range of genetic mutations and compulsory disclosure of all results. The chance of incidental findings - i.e. accidentally revealing predispositions to treatable or untreatable conditions, other than those investigated - is considered by many as a greater burden than not knowing.

The ACMG guidelines gave patients no option to refuse a battery of tests associated with 24 disorders and maintain their right not to know results. Scientific journals, Science and Nature, and the PHG Foundation report that the ACMG has since revised its recommendations - following heavy criticism from health communities - giving patients the choice to undergo or refuse broader genetic screening and sparing doctors the dilemma of whether or not to reveal genetic incidental findings to their patients. The PHG Foundation, the European Society for Human Genetics (ESHG) and several hundred health experts welcomed this initiative to restrict screening to specific disorders.

New guidelines on administrating prenatal diagnosis

The frequent use of prenatal diagnosis (PND), due to increasing genetic conditions and testing means, alerted the US National Society of Genetic Counselors on the pressing need for appropriate parent counselling and informed consent. According to an article from the European Journal of Human Genetics, thirteen European PND experts have developed a set of best practice guidelines intended for health professionals who provide prenatal diagnostic services. Until then, no general guidelines existed to ensure that parents were adequately equipped to make informed decisions regarding invasive and non-invasive PND.

The guidelines cover four issues, namely genetic conditions and foetal risk, test objectives, testing procedure and results. They highlight the need for professionals to be capable of providing parents with appropriate pre- and post-diagnostic counselling. The recommendations emphasise that health professionals must be trained to administer the tests, manage and communicate on the outcome and the implications for family members, provide interpreting services when required, and obtain parent consent to share case details with other professionals where necessary. Guidelines are expected to be revised every three years in order to address future issues in light of evolving genetic healthcare and health policy situations.

Bioinformatics, Registries and Data Management
Human embryonic stem cell lines going round in circles

Human embryonic stem cell (hESC) lines represent an important source of research into rare diseases. The use of hESC lines in the United States, however, is subject to a number of restrictive conditions. According to the NIH Guidelines on Human Stem Cell Research, only those hESC lines listed on the NIH Stem Cell Registry may be used in federally funded research. The guidelines state that eligibility depends on the informed consent of parents undergoing in vitro fertilisation to donate - usually anonymously - excess embryos to research. So far, the process appears relatively simple.

Matters are complicated, as suggested in a Cell Stem Cell letter in February (consult the abstract), by the frequently unknown origin of these embryos donated to research and the resulting lack of embryo donor screening information in accordance with FDA Tissue Donor Guidance. The author indicates that, while this may not be a problem for basic research, FDA regulation does not authorise the development and marketing of products derived from unidentified or insufficiently screened hESC lines. Translational research projects using hESC lines from inadequately tested embryo donors cannot, therefore, be FDA-eligible for commercial use (further information).

The author acknowledges that embryo donors should undergo a battery of, albeit expensive, tests and interviews in order to rule out a number of infectious diseases listed by the FDA Tissue Donor Guidance. Nevertheless, the study highlights that, until the issues of regulation and guidance on donor identity protection and adequate screening are resolved, hESC lines used in therapeutic research and development could remain just that - embryonic.

Computer algorithms for rare disease surveillance

EUROCAT, the European network of 43 population-based registries in 23 countries, provides epidemiologic information on congenital anomalies in an effort to prevent and treat teratogenic exposures. A recently published study (consult the PubMed abstract), based on data collected in 2004 and 2010 from 19 European registries covering almost one million births, describes EUROCAT’s breakthrough efforts to standardise the classification of multiple congenital anomalies (MCA), a subgroup of rare diseases associated with a range of birth defects.

Based on the International Classification of Disease codes, the study suggests that EUROCAT’s computer algorithm, combined with clinical investigations of potential MCA cases, could serve as gold standard for MCA surveillance. EUROCAT’s analysis, using this comprehensive case classification and standardised methodology, obtained stable MCA prevalence (15.8 per 10,000 births), consistent with past large population studies.

Patients with type 1 Gaucher disease in South Florida respond differently to treatment

An interesting study presents demographic variability in patients suffering from Gaucher disease by studying the International Collaborative Gaucher Group (ICGG) Registry. Gaucher disease, an autosomal recessive condition due to deficiency of lysosomal glucocerebrosidase, is a multisystemic disease, with variable age of onset, severity and progression. It is classified into subtypes delineated by the absence (type 1) or presence (type 2 and 3) of primary nervous system involvement. The authors studied the ethnically diverse, largely immigrant population in South Florida who show a spectrum of Gaucher disease phenotypes, creating a challenge for optimisation of disease management and an opportunity to explore treatment patterns.

They reported that the majority of patients were known patients with Gaucher disease Type 1, diagnosed during the fifth decade of life and almost two-thirds testing positive to a homozygous N370S mutation - a mutation observed in the Ashkenazi Jewish population. The authors also reported that the majority of patients received imiglucerase at various intervals while some underwent splenectomy before starting enzyme replacement therapy. Importantly, the article reported that after around 12 treatment years, South Florida patients matched or exceeded the ICCG 4 year therapeutic goal achievement for platelet count, spleen volume, liver volume, and bone crises.

From the study, the authors concluded that “demographic characteristics are a significant determinant of the differences in response to treatment observed in South Florida Gaucher patients compared to those described in the international population enrolled in the ICGG Gaucher Registry”. Individual genotypes and ethnic background are important considerations for optimising patient care for Gaucher disease.
Read the open access article

Screening and Testing
The invasion of non-invasive prenatal testing
Non-invasive prenatal testing (NIPT) allows early and more accurate detection of genetic anomalies in the foetus, based on a simple blood sample. NIPT is a welcome progress from the current invasive combined test - to screen for Down syndrome essentially - which comes with a risk of miscarriage while providing uncertain results.

A study conducted in the Netherlands, published last March in the European Journal of Human Genetics (consult the abstract), indicates that future parents, while in favour of NIPT as a safe and accurate tool, realise it cannot provide precise predictions for criteria such as disability severity and quality of life. The survey observes that some parents support the right to choose which tests should be run, whereas many others agree that screening for a limited number of specific and serious disorders is preferable in order to avoid indiscriminate use and pressure to undergo routine NIPT.

The findings from the study suggest that, although risk-averse pregnant women might be more inclined to consider NIPT in order to evaluate the risk of serious foetal genetic disorders early on during pregnancy, both parents and ethicists remain concerned about the scope of such testing. The survey anticipates that an uptake of routine NIPT could lead to trivialisation of screening and a proliferation of tests for minor abnormalities, resulting in decision-making quandaries and potentially widespread selective abortion.

The CLARITY Challenge: A novel approach towards standardising clinical genome sequencing

Isaac Kohane, David Margulies and colleagues have reported on the CLARITY Challenge in Genome Biology, which sought to develop standards for the analysis, interpretation and reporting of clinical sequencing for the diagnosis of genetic disorders. The study challenge included information on 12 individuals from 3 families with different heritable disorders, with clinical information provided from medical records, exome sequencing using the sOliD platform and whole-genome sequencing by complete genomics. Details of the families included in the challenge are described in the video above.

Thirty international groups participated in the challenge and were assessed on the basis of the methods they used for analysis and interpretation, whether these methods were efficient, scalable and replicable, and the clinical usefulness of their case reports. Only two groups identified the consensus candidate variants in all of the cases, although there was significant overlap in the candidates reported across the teams and some consensuses emerging on the methods used for alignment, variant calling and pathogenicity prediction. For example, most of the groups used gatK and saMtools, either alone or in combination, for variant calling and used both siFt and PolyPhen for pathogenicity prediction. The authors highlight the need for broader adoption of standard data formats, consideration of coverage along with an estimation of false negative rates for candidate genes and further development of publicly available genomic databases.
The CLARITY challenge website
Consult the Pubmed abstract


Ethical, Legal & Social Issues
When is patient data protection too much or too little protection?
Research on rare diseases is challenging due to the typically limited number of cases, and therefore depends heavily on international registries and patient data sharing. Despite countries adopting regulations to protect patient identity in research, progress in genetics and data pooling have increased the possibility of identifying individuals in research cohorts. Furthermore, according to a systematic review, published in the journal of Applied & Translational Genomics, the various consent models - broad consent, de-identification, re-consent - appear not to have achieved the much needed balance between keeping patients informed and fostering research.

The authors highlight that regulation must, therefore, satisfy the need to protect patient integrity and enable research to progress and lead to the development of targeted therapies for these rare disease patients. The review observes that rare disease patient associations do recognise the importance of advancing research, which itself relies heavily on patient trust and information. The authors suggest that patients should, therefore, become active partners in research on rare disorders, through dynamic consent models, such as participant centric interfaces (PCI) and thick opt-out strategies, in order to both protect their interests and support research.

Study calculates the health and economic burden of haemophilia in Belgium
Orphanet Journal of Rare Diseases has recently published an article on the health and economic burden of haemophilia in Belgium. Haemophilia is a rare hereditary haemorrhagic disease that requires regular intravenous injections of clotting factor concentrates which has piqued the interest of Belgian authorities’ as part of their priority planning for rare and chronic diseases. This study has not only estimated the health burden of haemophilia in Belgium by using the disability-adjusted life year (DALY) approach but also assessed the economic burden by calculating both direct and indirect costs. To study the lifetime financial burden of this disease for the 2011 birth-year Belgian cohort, the authors developed a probabilistic model which was calculated using disability-adjusted life years (DALYs), the number of healthy life years lost due to living with disability and dying prematurely and from direct and indirect haemophilia-related costs in Euros. The study concluded that, although haemophilia has a minor impact on the overall disease burden, the repercussions it has on the individual patient remain substantial. The authors believe that there is a need to identify causes that will reduce this burden which may involve making the treatment more available and affordable as well as investing in research and development efforts.
Read the open access article

Facebooking helps recruit rare disease patients
Internet and social media has made waves in several areas in the world. Its capacity to influence the populations and knowledge dissemination has been observed in social and political arenas. But does it influence the rare disease society and can it be used as an opportunistic tool to gather rare disease patients. An article published in American Journal of Medical Genetics has presented how advances in internet communication and social media provide new opportunities to recruit patients with rare diseases to online patient registries from wide geographic areas for research.

The authors describe recruitment patterns and the characteristics of individuals with the self-identified autosomal dominant genetic disorder neurofibromatosis type 1 (NF1) who participated in an online patient registry for a 1-year period in 2012. To alert potential participants to the NPRI registry (http://nf1registry.wustl.edu), four methods were used: Facebook and Google advertising, government and academic websites, patient advocacy groups, and healthcare providers. Registered participants reported how they first heard about the registry through an online questionnaire. During the 1-year period, 880 individuals participated in the registry in the US and the results revealed that internet advertising, especially through Facebook, resulted in efficient enrolment of large numbers of individuals with NF1 demonstrating the potential utility of this approach to assemble individuals with a rare disease from across the world for research studies.
Consult the Pubmed abstract

Estimating the cost of rare childhood chronic disease in Australia: a case study
Another article published in Orphanet Journal of Rare Diseases has studied the financial burden of rare diseases. This Australian study attempted to estimate the healthcare cost of a single child with a rare chronic disease - interstitial lung disease which is often complex and associated with multiple health issues. They found that an activity-based funding algorithm, currently being adopted in Australia, estimated the cost of hospital health service provision with more accuracy compared to disease- and procedure-related cost averages which, according to the authors, are insufficient to estimate costs associated with rare chronic diseases that require complex management.

The authors believe that the health service use for similar episodes of hospital care is greater for children with rare diseases than other children and the impacts of rare chronic childhood diseases should be considered when planning resources for paediatric health services. The authors are currently conducting a similar study on a large scale to support appropriate resourcing of health services to cover the real costs of rare chronic diseases to the health system.
Read the open access article

Patients’ Perceptions and Experiences of Familial Hypercholesterolemia, Cascade Genetic Screening and Treatment
A study published in the Journal of Community Genetics explored perceptions and experiences of patients with Familial hypercholesterolemia (FH) - a serious genetic disorder characterised by excessively high low-density lipoprotein (LDL) cholesterol levels, substantially increased risk of early-onset coronary heart disease (CHD) and premature mortality - involved in a genetic cascade screening programme. FH can be diagnosed through genetic screening and effectively managed through pharmacological treatment and lifestyle changes. The authors noted that participants recognise FH as a permanent, genetic condition that increased their risk of CHD and premature mortality and most believed that the disease can be effectively managed through medication and not lifestyle changes. Interestingly, the authors also reported that their relatives were reluctant to attend screening due to their relatives’ ‘fatalistic’ outlook or low motivation and welcomed greater hospital assistance for contact with relatives. The authors also reported that other implications included the need for clinicians to provide clear information, particularly to those who are asymptomatic, related to the seriousness of FH and the necessity for adherence to medication and lifestyle changes.
Read the open access article


New Syndromes

New syndrome of intellectual disability with severe speech impairment and behavioural problems caused by mutations of DEAF1
The authors identified four individuals with a new syndrome of intellectual disability with severely affected speech development and behavioural problems caused by de novo mutations in DEAF1.
Consult the Pubmed abstract

Am J Hum Genet. ; 94(5):649-61 ; May 2014
Novel syndrome of intellectual disability with hypotonia and sleep apnea associated with AHDC1 de novo truncating mutations
The authors described a novel syndrome of intellectual disability with hypotonia, global developmental delay, mildly dysmorphic features and sleep apnea associated with AHDC1 de novo truncating mutations.
Consult the Pubmed abstract

Am J Hum Genet. ; 94(5):784-9 ; May 2014
Neurological diseases: CLP1 mutations alter tRNA biogenesis, splicing and maturation affecting cerebellar development, and both peripheral and central nervous system function
In two articles, CLP1 mutations were identified in several individuals leading to neurological diseases characterized by severe motor-sensory defects, cortical dysgenesis and microcephaly.
Consult the Pubmed abstracts

Cell ; 157(3):636-50 ; April 2014
Cell ; 157(3):651-63 ; April 2014
New neurodegenerative disorder with dementia and/or parkinsonism linked to PRKAR1B heterozygous missense mutation
The authors described a family with a novel late-onset neurodegenerative disorder presenting with dementia and/or parkinsonism in 12 affected individuals. They identified a heterozygous missense mutation in PRKAR1B associated to that disorder.
Consult the Pubmed abstract

Brain ; 137(Pt 5):1361-73 ; May 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
The authors identified three unrelated patients with heterozygous deletions encompassing 13q12.3 (HMGB1 and KATNAL1 genes). The patients presented with moderate demonstrated or apparent intellectual disability, postnatal microcephaly and eczema/atopic dermatitis as predominant symptoms. They also had pronounced feeding difficulties in early infancy and similar facial features.
Consult the Pubmed abstract

Am J Med Genet A. ; 164(5):1277-83 ; May 2014
Delay in the acquisition of motor and language skills in three families could be due to FRA2A expression, a CCG repeat expansion associated with silencing of AFF3
The authors studied three families with FRA2A expression at 2q11 associated with a wide spectrum of neurodevelopmental phenotypes. Their data suggested that there may be an association between FRA2A and a delay in the acquisition of motor and language skills in the families studied.
Consult the Pubmed abstract

PLoS Genet. ; 10(4):e1004242 ; April 2014

New Genes

Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis type 5 due to mutations in PIEZO2
Consult the Pubmed abstract
To read more about "Gordon syndrome"
To read more about "Marden-Walker syndrome"

Am J Hum Genet. ; 94(5):734-44 ; May 2014
Facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs or Traboulsy syndrome are caused by mutations in ASPH
Consult the Pubmed abstract
Am J Hum Genet. ; 94(5):755-9 ; May 2014
Retinal dystrophy due to biallelic variants in TTLL5
Consult the Pubmed abstract
Am J Hum Genet. ; 94(5):760-9 ; May 2014
Pustular psoriasis and impaired toll-like receptor 3 trafficking are associated to AP1S3 mutations
Consult the Pubmed abstract
To read more about "Acrodermatitis continua suppurativa of Hallopeau"
To read more about "Pustulosis palmaris et plantaris"
To read more about "Generalized pustular psoriasis"

Am J Hum Genet. ; 94(5):790-7 ; May 2014
Bardet-Biedl syndrome: NPHP1 mutations are probably rare primary causes that contribute to the mutational burden of the disorder
Consult the Pubmed abstract
To read more about "Bardet-Biedl syndrome"

Am J Hum Genet. ; 94(5):745-54 ; May 2014
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
Consult the Pubmed abstracts
To read more about "Pyridoxine-dependent epilepsy"

Brain ; 137(Pt 5):1350-60 ; May 2014
Neurology ; 82(16):1425-33 ; April 2014
Intellectual disability, epilepsy and hypomagnesemia caused by CNNM2 mutations
Consult the Pubmed abstract
PLoS Genet. ; 10(4):e1004267 ; April 2014
Progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions due to mutations in the SPG7 gene
Consult the Pubmed abstract
To read more about "Autosomal recessive progressive external ophthalmoplegia"
To read more about "Autosomal dominant progressive external ophthalmoplegia"

Brain ; 137(Pt 5):1323-36 ; May 2014
Recessive ocular coloboma caused by a novel homozygous mutation of SALL2
Consult the Pubmed abstract
To read more about "Ocular coloboma"

Hum Mol Genet. ; 23(10):2511-26 ; May 2014
Autosomal recessive cerebellar ataxia linked to mutations of CHIP and STUB1
Consult the Pubmed abstracts
To read more about "Autosomal recessive cerebellar ataxia"
To read more about "Autosomal recessive spastic ataxia"

PLoS One ; 8(12):e81884 ; December 2013
Orphanet J Rare Dis. ; 9(1):57 ; April 2014
Autosomal recessive non-syndromic sensorineural deafness type DFNB associated with GRXCR2 and EPS8 mutations
Consult the Pubmed abstracts
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Hum Mutat. ; 35(5):618-24 ; May 2014
Orphanet J Rare Dis. ; 9(1):55 ; April 2014
Cholangiocarcinoma cell proliferation and migration is promoted by activating mutations in PTPN3, which is associated with tumor recurrence in patients
Consult the Pubmed abstract
To read more about "Cholangiocarcinoma"

Gastroenterology ; 146(5):1397-407 ; May 2014

Research in Action

Oligoarticular juvenile arthritis, enthesitis-related arthritis and psoriatic arthritis: etanercept treatment for 12 weeks was effective and well tolerated in paediatric subjects
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Oligoarticular juvenile arthritis"
To read more about "Enthesitis-related arthritis"
To read more about "Juvenile psoriatic arthritis"

Ann Rheum Dis. ; 73(6):1114-22 ; June 2014
Juvenile dermatomyositis: etanercept did not demonstrate appreciable improvement and some patients noted worsening of disease during a pilot study
Consult the Pubmed abstract
To read more about "Juvenile dermatomyositis"

Arthritis Care Res (Hoboken) ; [Epub ahead of print] ; October 2013
Collagenous colitis: budesonide is more effective than mesalamine or placebo in short-term treatment
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Collagenous colitis"

Gastroenterology ; 146(5):1222-1230.e2 ; May 2014
Glioblastoma: efficacy and safety of phase 1 trials of oncolytic HSV-1, G207, in combination with radiation and of intratumoral reovirus infusions
Consult the Pubmed abstracts
To read more about "Glioblastoma"

Mol Ther. ; 22(5):1048-55 ; May 2014
Mol Ther. ; 22(5):1056-62 ; May 2014
Amyotrophic lateral sclerosis: review on recent advances and prospects for the future for stem cell therapies
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Stem Cells ; 32(5):1099-109 ; May 2014
Sickle cell anemia: importance of hydroelectrolyte monitoring and need to improve intravenous hydration and tissue oxygenation during vaso-occlusive crisis
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Orphanet J Rare Dis. ; 9(1):67 ; April 2014
New variant of progressive encephalomyelitis with rigidity and myoclonus with DPPX antibodies, which testing should be considered in the diagnostic
Consult the Pubmed abstract
To read more about "Stiff person syndrome"

Neurology ; 82(17):1521-8 ; April 2014
Muckle-Wells syndrome: identification of two distinct phenotypes which need to be considered when developing diagnostic criteria
Consult the Pubmed abstract
To read more about "Muckle-Wells syndrome"

Arthritis Care Res (Hoboken) ; 66(5):765-72 ; May 2014
Gene Therapy

Close-Field electroporation gene delivery using the cochlear implant electrode array enhances the bionic ear
Consult the Pubmed abstract
Sci Transl Med. ; 6(233):233ra54 ; April 2014
Tyrosinemia type 1: genome editing with Cas9 in adult mice corrects Fah mutation in hepatocytes and rescues the body weight loss phenotype
Consult the Pubmed abstract
To read more about "Tyrosinemia type 1"

Nat Biotechnol. ; March 2014
Mitochondrial neurogastrointestinal encephalomyopathy: gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model
Consult the Pubmed abstract
To read more about "Mitochondrial neurogastrointestinal encephalomyopathy"

Mol Ther. ; 22(5):901-7 ; May 2014
Therapeutic Approaches

Alveolar rhabdomyosarcoma: inhibition of both PDGFRβ and EphB4 by dasatinib decreases tumor cell viability in vitro and tumor growth rate in vivo, and prolongs survival
Consult the Pubmed abstract
To read more about "Alveolar rhabdomyosarcoma"

Proc Natl Acad Sci U S A ; 111(17):6383-8 ; April 2014
Spinal muscular atrophy with respiratory distress: polyethylene glycol-coupled IGF1 delays motor function defects in a mouse model
Consult the Pubmed abstract
To read more about "Spinal muscular atrophy with respiratory distress"

Brain ; 137(Pt 5):1374-93 ; May 2014
Peripheral resistance to thyroid hormones: suberoylanilide hydroxyamic acid, a histone deacetylase inhibitor, improves hypothyroidism caused by a TRα1 mutant in mice
Consult the Pubmed abstract
To read more about "Peripheral resistance to thyroid hormones"

Hum Mol Genet. ; 23(10):2651-64 ; May 2014
Huntington disease: dexamethasone, a synthetic glucocorticoid, induces heat shock response and slows down disease progression in mouse and fly models of the disease
Consult the Pubmed abstract

To read more about "Huntington disease"

Hum Mol Genet. ; 23(10):2737-51 ; May 2014
Huntington disease: supplementation with cysteine reverses abnormalities in tissues cultures and in mouse models
Consult the Pubmed abstract

To read more about "Huntington disease"

Nature ; 509(7498):96-100 ; May 2014
Diagnostic Approaches

Polymyalgia rheumatic: the new EULAR/ACR criteria in new onset patients performs best in discriminating the disease from rheumatoid arthritis and inflammatory articular diseases
Consult the Pubmed abstract
To read more about "Polymyalgia rheumatica"

Ann Rheum Dis. ; 73(6):1190-3 ; June 2014
ICF syndrome: germline genes hypomethylation and expression define a molecular signature in peripheral blood of patients which could facilitate diagnosis
Consult the Pubmed abstract
To read more about "ICF syndrome"

Orphanet J Rare Dis. ; 9(1):56 ; April 2014
New diagnostic algorithm based on IgG4/IgG1 ratio that may be used in clinical practice to distinguish primary sclerosing cholangitis from immunoglobulin G4-associated cholangitis
Consult the Pubmed abstract
To read more about "Immunoglobulin G4-related sclerosing disease"

Hepatology ; 59(5):1954-63 ; May 2014

Patient Management and Therapy
Congenital pulmonary airway malformation: understanding of the factors predictive of neonatal respiratory distress
Consult the Pubmed abstract
To read more about "Congenital pulmonary airway malformation"

Pediatrics ; [Epub ahead of print] ; April 2014
Systemic sclerosis: a self-management program using an internet format can lead to changes in health efficacy and management of care, fatigue, and depression
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Arthritis Care Res (Hoboken) ; [Epub ahead of print] ; October 2013
Hemophagocytic syndrome: a review
Consult the Pubmed abstract
To read more about "Hemophagocytic syndrome"

Lancet ; 383(9927):1503-16 ; April 2014
Isolated polycystic liver disease: overview of pathogenesis, clinical manifestations and management
Consult the abstract
To read more about "Isolated polycystic liver disease"

Orphanet J Rare Dis. ; 9:69 ; May 2014
Lyme disease: a review
Consult the Pubmed abstract
To read more about "Lyme disease"

N Engl J Med. ; 370(18):1724-31 ; May 2014
Acute myeloid leukemia: review on management and orphan drug development
Consult the abstract
To read more about "Acute myeloid leukemia"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 441-451 ; May 2014
Richter’s syndrome: update on biology and management
Consult the abstract
To read more about "Diffuse large B-cell lymphoma"
To read more about "Hodgkin lymphoma"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 453-463 ; May 2014
Proximal spinal muscular atrophy: review on current and investigational treatments
Lire le résumé
To read more about "Proximal spinal muscular atrophy"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 465-476 ; May 2014
Discoid lupus erythematosus: review on practical therapeutics for skin lesions of Japanese patients
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To read more about "Discoid lupus erythematosus"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 477-482 ; May 2014
Paraneoplastic neurologic syndrome with well-characterized onconeural antibodies: review on current and future approaches for treatments
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To read more about "Paraneoplastic neurologic syndrome"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 483-496 ; May 2014
Adenocarcinoma of ovary: evidence of efficacy and safety with olaparib treatment
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To read more about "Adenocarcinoma of ovary"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 497-508 ; May 2014
Review on droxidopa for the treatment of neurogenic orthostatic hypotension and other symptoms of neurodegenerative disorders
Lire le résumé
To read more about "Primary orthostatic hypotension"
To read more about "Pure autonomic failure"
To read more about "Multiple system atrophy"
To read more about "Dementia with Lewy body"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 509-522 ; May 2014
Gaucher disease type 1: systematic review on effectiveness and safety of eliglustat
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To read more about "Gaucher disease type 1"

Expert Opinion on Orphan Drugs ; Vol. 2, No. 5 , Pages 523-529 ; May 2014

Orphan Drugs
The self-regulating orphan drug market
The introduction of the European Orphan Medicinal Product (OMP) Regulation in 2000 prompted significant growth in OMP designations and marketing authorisations in Europe. By 2012, out of 878 OMP designations, 78 gained market access. According to DG Health & Consumers, these figures have reached 101 authorised OMPs for 1009 designations. According to a recent article in Orphanet Journal of Rare Diseases, policy makers and payers in Europe are growing concerned, however, about the potential consequent increase in OMP expenditure. The authors suggest that adopting strict pricing and reimbursement policies might not, however, be the answer.

Findings from this comparative study of Sweden and France estimate that 152 OMPs will have received market authorisation by 2020, for an average 146 annual new OMP designations. The article further suggests that the low OMP market approval rate, and loss of intellectual property protection after 12 years and market exclusivity after 10 years (resulting in 60-65% price cuts), will contribute to curb the impact of OMPs on health expenditure.

The authors expect the OMP budget impact to remain sustainable from 2013 to 2020 (2.7% to 4.1% in Sweden and 3.2% to 4.9% in France), representing only a small proportion (4-5%) of total European pharmaceutical expenditure, in line with previous forecasts. Furthermore, only the top five selling OMPs in Sweden and France report sales above SEK 30 (€3.3) million and €50 million, respectively. Along with a predicted budget impact reduction after 2018, the authors suggest that the growth in OMP numbers should not, therefore, be cause for concern.

A synergy between Big Pharma and biotechs: the wave of the future
Biotechs direct the way for innovation-led, indication focused development of orphan medicines. They routinely outperform multinational pharmaceuticals in the discovery and development of orphan medicines. However, an article published in Expert Opinion on Orphan Drugs believes that Big Pharma are also trying to get a piece of this pie through acquisition of biotechs, generating new business units and co-development. These developments, although slow, are essentially positive for patients as well as the industry, as the authors detail that Big Pharma obviously acknowledges the financial potential afforded by orphan therapies and the fiscal benefits afforded by these pharmaceuticals are crucial to bring more orphan drugs to the market.

The authors believe that, at the discovery stage, the pharmaceutical industry has had much less of an impact on the orphan landscape as they have contributed to the development of only one or two of the current best-selling orphan drugs (Glivec/Gleevec, Imatinib, Novartis and Tracleer, Roche). However, the biotechs - described as the 'child' of the orphan drug legislation - continues in the front-end discovery and early clinical development of innovative technologies for orphan diseases. By providing examples of how orphan drugs are the new blockbusters, even though they cater to a small population, the authors assert that the commercial potential of orphan therapies outweighs by far the perceived historical barrier to Big Pharma of small patient numbers. Although the authors understand that Big Pharma is unlikely to be the main innovation engine for the next generation of orphan technologies, the move of multinationals into the rare disease space allows the rapid development of this sector as they provide access to the development, manufacture and even marketing capabilities that multinational pharmaceutical entities can provide for new medicines post discovery.
Read the abstract

Regulatory News
FDA approves Sylvant for rare Castleman’s disease
Patients with multicentric Castleman’s disease (MCD), a rare disorder resembling lymphoma and causing a weakened immune response, can finally benefit from Janssen-Cilag’s new treatment Sylvant® (siltuximab), which received orphan medicinal product designation in 2007. The FDA announced, on 23rd April, marketing authorisation (read news release) for this first monoclonal antibody, which acts by reducing tumours and improving symptoms in (HIV and HHV-8 negative) patients. Marketing authorisation in Europe was recommended on 20th March, but is still pending.
Political and Scientific News
CRISPR-Cas9 gene editing system secures its first patent
The US Patent and Trademark Office has announced the granting of a patent for the recently discovered gene-editing system - CRISPR-Cas9 - to the Broad Institute of MIT and Harvard. The therapeutic potential of this system has been recently published in Nature Biotechnology using a mouse model of hereditary tyrosinemia type I, a rare and severe genetic metabolic disease caused by mutation of the gene that encodes the enzyme fumarylacetoacetate hydrolase. The mice were treated with a CRISPR construct including the healthy gene sequence, administered via high-pressure injections. The results underline the potential of the CRISPR-Cas9 system as a tool for genome editing. The new patent includes description of how the system could be used to treat specific genetic diseases, including many that lack effective treatments. Researchers in many different laboratories are already enthusiastically using and customising it, and will be hoping the patent will not prove a barrier.
For further information

Cutting edge in therapeutic modalities for spinal muscular atrophy
A thorough review on the currently developing medications for the treatment of Spinal muscular atrophy (SMA) has been recently published in Expert Opinion on Orphan Drugs. SMA is an autosomal recessive neurodegenerative disorder in humans characterised by impaired motor neuron function resulting in muscle weakness and atrophy, clinically classified into four main types based on age of onset and clinical severity. SMA is caused by a reduced level of functional survival motor neuron (SMN) protein and the current therapeutic strategies for treating SMA focus on SMN expression augmentation and the development of neuroprotective agents, especially in the area of gene therapy. The review discusses the preclinical successes of several approaches including gene therapy, antisense oligonucleotides, small molecule drugs and stem cell technology with limited success in clinical trials. The authors consider vector-based gene therapy is one of the most promising candidates for treating SMA due to its success and safety, demonstrated in preclinical studies in mouse models and non-human primates. However, the authors do appreciate that there are still major challenges yet to be addressed, such as the efficient penetration of the blood-brain-barrier, the route of delivery that maximises global distribution with a minimal invasive technique to the patient and the timing of the treatment for patients to achieve the highest therapeutic benefits.
Read the abstract



DEBRA International research grants
This grant aims to
  • Improve our understanding of the biology and genetics of all forms of EB, as better understanding can lead to new approaches to diagnose and treat EB
  • Work towards the development of therapies (including possible gene-therapies, cell-therapies, drug therapies or protein therapies)
  • Understand the nature of wound healing and the development of skin cancer in EB, and seek to develop better treatments and prevention strategies
  • Support clinical care research to improve the management of EB through symptom relief
  • Application deadlines: 15th February or March and 15th September, 2014.
    Decisions on funding applications from these calls will normally be made in June and December, respectively.
    However, details of calls and submission dates can vary from year to year, so keep checking this page

    The Ataxia of Charlevoix-Saguenay Foundation
    The Ataxia of Charlevoix-Saguenay Foundation is offering an annual research gran for work aimed at developing treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Such funding is offered regardless of where the research is conducted.
    Application deadline: 22nd May, 2014.
    For further details

    Translational consortia for rare diseases research
    The funding initiative aims to concentrate research capacities in regional or nationwide research consortia that will develop new knowledge on rare diseases through interdisciplinary cooperation. The research consortia should combine projects on basic research, clinical research and/or health care research into an integrated programme which promises convincing potential for innovation and a short- to mid-term effect on improving care for patients.
    Application deadline: 21st May, 2014.
    For further details in German

    FRT - Fondation René Touraine (FRT) Award
    These grants are awarded to encourage exchanges and international collaboration between research laboratories or clinical departments for pre- or post-doctoral research fellows and dermatologists. The award consists of one €18,000 fellowship for a long-term exchange and four €4,500 fellowships for a short-term exchanges. Eligibility criteria for these grants includes: exchange with a laboratory or department from another country; involvement of at least one European laboratory; benefits for both host and home laboratories.
    Application deadline: 1st October, 2014.
    Download the application form
    For further details

    Ataxia research grants
    The National Ataxia Foundation (NAF) is committed to funding the best science relevant to hereditary and sporadic types of ataxia in both basic and translational research. NAF invites research applications from U.S.A. and International non-profit and for-profit institutions. One-year seed money grants of up to $15,000, and promising proposals up to a maximum of $30,000, will be considered for early or pilot phases of studies and ongoing investigations.
    Deadline for letter of intent (half- to one-page abstract with specific aims of your research): 15th August, 2014.
    Deadline for full application: 15th September, 2014.
    For further details

    Call for projects “Preclinical Research in Rare Diseases”
    The Rare Disease Foundation launches its first call for projects "Preclinical research in rare diseases: development of translational steps in large animals". The objective of this call for proposals is to support scientific pilot programmes at the interface between proof of concept in vivo obtained in rodents and development of a clinical application in humans to improve the well-being of patients. The Foundation will enable winners to develop their projects within structures known for their expertise, in accordance with European regulations.
    Deadline for pre-proposals submission: 16th April, 2014.
    Deadline for full proposals: 25th June, 2014.
    For further details


    Courses & Educational Initiatives

    5th ESO-SIOP Europe Masterclass in paediatric oncology
    Date: 17-22 May 2014
    Location: Ljubljana, Slovenia

    ESO and SIOP-Europe are pleased to announce the fifth Masterclass in Paediatric Oncology. This clinically-oriented educational programme has been designed for young paediatric oncologists who wish to improve their skills in clinical management of common childhood tumours. It is designed to offer a unique learning experience, providing practice-oriented training and the teaching sessions will focus on the application of the most recent research findings to clinical practice.
    Application deadline: 3rd February, 2014.
    Information, detailed programme and application form available at www.eso.net

    Intermediate Filaments in Neuromuscular Disorders
    Date: 6 July, 2014
    Location: Nice, France

    This workshop is a satellite to the XIIIth International Congress on Neuromuscular Diseases (ICNMD2014). This one-day workshop is organised into four sessions dedicated to a particular type of intermediate filament and its associated pathologies: Desmin, Plectin, Synemin and Lamins.
    For further information

    radiz - Rare Disease Initiative Zurich
    Date: 14-16 July 2014
    Location: Zurich, Switzerland

    The 2nd 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.
    For further information

    EUPATI Training Course
    The EUPATI Expert Training Course is an opportunity offering patient advocates expert-level training in medical research and development, specifically tailored for them. The certificate course will be a mixture of online and face-to-face modules over a 13-month period, beginning in September 2014.
    For further information

    INTERNATIONAL SUMMER SCHOOL: Rare diseases and orphan drug registries
    Date: 15-19 September 2014
    Venue: Rome, Italy

    The School will take the participants through the main concepts and methodological steps that must be undertaken in the establishment and management of a rare disease registry and to ensure its usefulness, scientific soundness and sustainability.
    For further information

    III INTERNATIONAL EPIRARE WORKSHOP: Rare disease and orphan drug registries
    Date: 24-25 November 2014
    Venue: Rome, Italy

    Participants will be able to exchange experiences and present scientific results, in an effort to foster international collaboration.
    For further information


    What's on Where?

    EUROPLAN National Conferences Spain
    Date: 6 June, 2014
    Location: Madrid, Spain

    Organised by FEDER, the Spanish Alliance for Rare Diseases.
    For further information

    2014 International Collaboration for Clinical Genomics (ICCG) Conference
    Date: 11-12 June, 2014
    Location: Maryland, US

    The International Collaboration for Clinical Genomics (ICCG) is creating a universal, clinical-grade genomic variation database (including structural and sequence variants), available to the public through resources such as NCBI's ClinVar database and much more. The ICCG encourages attendance of clinical laboratory personnel (from both cytogenetics and molecular communities), clinicians, genetic counsellors, and others interested in setting the standards for clinical-grade databases of genomic variation.
    For further information

    LGDA Patient - Family Conference
    Date: 13-14 June, 2014
    Location: Texas, US

    The Lymphangiomatosis & Gorham's Disease Alliance (LGDA) will hold its inaugural Patient - Family Conference. This milestone event will bring together, for the very first time, patients, families, and experts in the field from around the world.
    For further information

    Euromit 2014 - International Meeting on Mitochondrial Pathology
    Date: 15-19 June, 2014
    Location: Tampere, Finland

    Euromit 2014 will be the 9th in a series of international conferences dedicated to understanding mitochondrial disease. The conference will bring together leaders of the field as well as many young talents. The organisers expect around 700 molecular scientists, clinicians and representatives of the healthcare industry to attend.
    For further information

    European Reference Networks: Organised by DG SANCO
    Date: 23 June, 2014
    Location: Brussels, Belgium

    The aim of the conference is to discuss the state of the art on organising highly specialised networks and expertise centres across the EU. The conference will also investigate next steps of the deployment process, in preparation of the forthcoming call for European Reference Networks in 2015.
    For further information

    Genomic Technologies and Biomaterials for Understanding Disease
    Date: 23-24 June, 2014
    Location: San Diego, US

    The conference will discuss how advances in biomaterial sciences are being harnessed in the context of genomics and cell based technologies to deepen our understanding of the biology and revolutionise translational medicine. Topics will include advances in sequencing, gene editing and therapy, single cell analysis, stem cell and tissue engineering.
    For further information

    2014 EWGGD (European Working Group on Gaucher Disease) meeting
    Date: 25-28 June, 2014
    Location: Haifa Israel

    This bi-annual meeting is organised by the European Working Group on Gaucher Disease in order to promote the presentation and publication of scientific data and research, and to discuss freely all aspects of Gaucher disease. Physicians, researchers and patients who are interested in Gaucher disease are welcome to attend the meeting.
    For further information

    Day To Day With SMA
    Date: 28-29 June, 2014
    Location: Warwickshire, UK

    A day of information, workshops and opportunities to share experiences. Conference sessions are open to anyone aged 16 years and above, unless otherwise specified. Refreshments and lunch are provided as well as childcare activities for children and young people aged 0 to 15.
    For further information

    12th European Conference on Rare Diseases: Living with a rare disease
    Date: 4-6 July, 2014
    Location: Spala, Poland

    The objective of the conference is to introduce the multifaceted nature of rare diseases. The conference, seminars and training sessions of this event aim to increase awareness regarding coordinated actions to improve the quality of life of patients with MPS and rare diseases in Poland and globally.
    For further information

    13th International Congress on Neuromuscular Diseases - ICNMD 2014
    Date: 5-11 July, 2014
    Location: Nice, France

    The 13th ICNMD will bring together experts to share knowledge and experience in the field of neuromuscular diseases. Physicians and scientists, involved in diagnosis, care, research in basic mechanisms and therapeutic approaches would greatly benefit from this event.
    For further information

    Myotubular Trust Family Conference
    Date: 12 July, 2014
    Location: London, UK

    The Myotubular Trust wishes to invite anybody, whose life is affected by myotubular or centronuclear myopathy, to attend their Family Conference. The Conference is free-of-charge and provides a unique opportunity for delegates to meet other affected families and individuals, hear from the leading researchers in this field and discover some of the latest ideas about how to manage the condition.
    Booking form and agenda now available online.

    Phenotype Day - joint iniative with BioLink and BioOntologies SIG
    Date: 12 July, 2014
    Location: Massachusetts, US

    Developed jointly by the Bio-Ontologies and BioLINK special interest groups, Phenotype Day will bring together researchers from different disciplines to share information on phenotype resources and issues as well as experience in defining, representing, processing and using phenotype data.
    For further information

    3rd Nordic Conference on Rare Diseases
    Date: 4-5 September, 2014
    Location: Helsinki, Finland

    NCRD 2014 will be the 3rd Nordic conference focusing on the rare diseases and current topics related to them. NCRD 2014 will introduce national plans and strategies for rare diseases in Nordic countries, implementation of the plans and experience gained so far. The conference offers an excellent opportunity to network and to support the exchange of best practices throughout Nordic countries. Joint action will further help patients and professionals share expertise and information across borders.
    For further information

    16th International Conference on Behçet’s Disease
    Date: 18-20 September, 2014
    Location: Paris, France

    This conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Updates on new therapeutic strategies will be presented and challenging issues will be discussed. Distinguished lecturers in the field of innate immunity are expected to participate in panel discussions.
    For further information

    4th Annual Brain Metastases Research and Emerging Therapy Conference
    Date: 19-20 September, 2014
    Location: Marseille, France

    This European Organisation for Research and Treatment of Cancer (EORTC) initiative intends to foster a multidisciplinary approach needed to develop brain metastases (BM) projects across several tumor types and disciplines such as breast cancer, lung cancer, melanoma, imaging, pathobiology and radiation oncology. This conference aims to stimulate innovative and insightful research in a collaborative environment and improve the standard of care and methodology of clinical research. Topics will cover new models of Academia-Industry partnership and biobanking strategies in BM to enhance personalised medicine approaches.
    For Further Information

    3rd International Conference on Immune Tolerance 2014
    Date: 28-30 September, 2014
    Location: Amsterdam, The Netherlands

    The Third International Conference on Immune Tolerance will bring together international delegates to share their latest research and insights into the mechanisms and treatment of many conditions, most notably in transplantation, autoimmune diseases, inflammation and cancer.
    For Further Information

    Single topic symposium in metabolic liver disease
    Date: 2-4 October, 2014
    Location: Birmingham, UK

    This symposium will include experts presenting information on diagnosis and treatment of metabolic liver disease as well as information on lipid disorders such as homozygous hypercholesterolaemia, Lysosomal acid lipase deficiency, Mitochondrial Diseases and other specific metabolic disorders.
    For further information

    The Translational Science of Rare Diseases: From Rare to Care II
    Date: 8-10 October, 2014
    Location: Herrenchiemsee, Germany

    This meeting will bring together high-profile scientists from around the world, active in the field of rare disease research and translational medicine, and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies.
    For further information

    9th ISNS European Neonatal Screening Regional Meeting
    Date: 12-15 October, 2014
    Location: Birmingham, UK

    This conference will focus on neonatal screening for various diseases.
    For further information

    Dysmorphology and Radiology of Inborn Errors of Metabolism
    Date: 16-17 October, 2014
    Location: Manchester, UK

    The topics covered will be of interest to clinicians who deal with rare disorders or have an interest in clinical genetics, IEMs or paediatrics. Participants are expected to have some background knowledge of the field, although extensive experience is not required. Participants are strongly recommended to bring interesting, unusual or unsolved cases for discussion.
    For further information

    International Scientific Symposium on Angelman Syndrome 2014
    Date: 17-19 October, 2014
    Venue: Paris, France

    It will bring together the international scientific community studying the mechanisms associated with Angelman syndrome to promote exchanges between researchers to advance research in genetics and neuroscience on this rare disease.
    For further information

    14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
    Date: 22-25 October, 2014
    Location: Córdoba, Argentina

    Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. This conference will bring together experts on the latest research into Batten disease, experimental therapies, and clinical perspectives. Workshops will also be organised, covering topics such as patient registries and ethical issues.
    For Further Information

    New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
    Date: 30 October - 1 November, 2014
    Location: Stresa, Italy

    This third joint symposium on Neuroacanthocytosis addresses neurologists, interns, haematologists and biotechnologists working in the field of diagnostic, clinical and therapeutic management of patients affected by Neuroacanthocytosis and brain iron accumulation diseases. The scientific issues of this meeting will cover both the identification and characterisation of new aspects of this condition, as well as clinical developments.
    For Further Information

    Cilia 2014
    Date: 18-21 November, 2014
    Location: Paris, France

    Cilia 2014 will focus on (but not be limited to) recent advances in cilia structure and function, including trafficking, cilia and development, cilia in human genetic disease and cilia in infectious microorganisms. The event is organised by 4 European cilia networks: GDR CIL (France), the Ciliopathy Alliance, the Nordic Cilia & Centrosome Network (Scandinavia) and the EU-FP7 SYSCILIA programme.
    For Further Information

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


    Commercial events

    9th World Stem Cells & Regenerative Medicine Congress
    Date: 20-22 May, 2014
    Location: London, UK

    The 9th World Stem Cells & Regenerative Medicine Congress is Europe’s leading scientific and business development event for the stem cell and cell therapy industry. This event brings together industry, academia and investors in order to combine translational and clinical research with commercialisation and business development.
    For further information

    Date: 21-22 May, 2014
    Location: Barcelona, Spain
    This forum will provide opportunities to examine how to improve designation and approval processes for orphan drugs, inspired by case studies. Discussions will focus on orphan drug legislation and commercialisation, the role of patient organisations in promoting access to treatment, the relevance of patient registries, as well as partnerships and alliances for clinical research and development.
    For further information

    Drug Development Primer
    Date: 5-6 June, 2014
    Location: Boston, US

    Drug Development Primer is an intensive two-day course on the regulatory, commercial and scientific considerations required to successfully bring a drug to market. Discussion will focus on both small molecule and biologic products. Numerous case studies will be used to illustrate company decision-making processes, providing participants with a working knowledge of strategic development.
    For further information

    The World Orphan Drug Congress Asia 2014
    Date: 10-11 June, 2014
    Location: Singapore

    The World Orphan Drug Congress Asia 2014 focuses on fostering partnerships and relationships between industry, governments, payers, investors and patients as well as to expedite orphan drug development and articulating its value, from discovery to clinical development, to license, manufacture, launch and supply sustainability, in order that manufacturers are guaranteed full and speedy reimbursement.
    For Further Information

    The World Orphan Drug Congress Europe 2014
    Date: 12-14 November, 2014
    Location: Brussels, Belgium

    The World Orphan Drug Congress Europe offers partnering opportunities in the orphan and rare disease field. Key networking platforms include: Dedicated networking functions; Privately hosted meeting areas; Online partnering portal and access to free smartphone app; Personal networking managers to assist in meeting scheduling.
    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: Antonia Mills
    Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
    Contact Us
    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Helena Kaariainen, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, 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), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
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