28 February 2015 print
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Rare Diseases Day 2015: day-by-day, hand-in-hand

The photo is of 4-year-old Thaïs and her 6-year-old brother Matthieu from France hand in hand against their rare disease. They both have Hurler syndrome, a variant of mucopolysaccharidosis type 1 (Photo courtesy: EURORDIS photo competition)

Today officially marks the eight International Rare Disease Day, but events have been unfolding all week and all around the world. This years’ slogan – day-by-day, hand-in-hand - urges us to join hands and help each other towards achieving better health care, greater awareness and improved collaborations. There is not enough space to elaborate all of the activities being planned by patient organisations, scientific bodies, government representatives, members of industry, health professionals and others. Activities are unfolding across continents and 88 countries with many participating in the iconic show of hands. Several conferences and policy events have taken place across the world as a prologue to Rare Disease Day to build on successful partnerships and to foster the dynamic needed to work towards future goals.

Have you watched the inspiring official Rare Disease Day video!

The video was created with the help of UNIAMO, the Italian National Rare Disease Alliance, under the brilliant direction of Carlo Hintermann, animators Lulu Cancrini and Marco Varriale and all of their team, who volunteered their time to produce it. The participants Rita, Pietro and Beatrice who are each living with a rare disease, as well as their family members who accompanied them to filming the video represent the thought of many rare disease patients and their families and people are showing their love and appreciation in leaps and bounds as the video has garnered more than 40,000 likes.

OrphaNews International wishes you an eventful and productive day and thank all the groups that are making an effort to put rare diseases on the agenda of topics that merit awareness, action and funding.

EU Policy News
The European Medicines Agency celebrates 20 years of patient care
The European Medicines Agency (EMA) celebrated its 20th anniversary on 26 January. Since its establishment the EMA has worked tirelessly to bring safe and effective medicines expeditiously to patients in Europe. The EMA is heralded for its effort to promote research and innovation in medical science and bases their success on the unique partnership with the European Commission to whom they have recommended the authorisation of a total of 975 for human use.

This year also marks 50 years of Pharmaceutical Legislation which introduced the first EU legislation on human medicines and 15 years of implementation of the legislation on orphan medicines. Subsequent to the Orphan Medicines Regulation in 2000, the EMA has brought forth several important initiatives that provide guidance for the development and marketing authorisation of orphan medicines. The EMA has set forth several specialised regulations such as the Paediatric Regulation (2006) and advanced therapy medicines (2007), which have helped bring about important medicines for vulnerable populations. They have also introduced programmes such as conditional marketing authorisation and the adaptive licensing pilot project to provide avenues that may ease the challenges often observed while producing orphan medicinal products. To date, the EMA has recommended the market authorisation of 84 medicines (graph below) with orphan designation which includes Chondrocelect as the first advanced therapy, Holoclar – the first stem cell medicine as well as the gene therapy Glybera.

As of January 2015, EMA has been implementing its landmark policy on publishing the clinical data that underpin European decision making on medicines. This will provide an unprecedented level of transparency for patients, healthcare professionals, academia and industry.

Today, representatives of patients and healthcare professionals take part in most of EMA’s scientific committees as full members, adding their unique perspective and experiences to the discussions. The EMA actively encourage patients to provide input during the assessment of the risks and benefits of medicines.
For further information


National & International Policy Developments
Should NIH rethink the 2014 Genomic Data Sharing policy?
A review published in Trends in Genetics expresses concern over certain aspects of the new policy governing the use and release of data generated by US National Institutes of Health (NIH)-funded genomic studies, issued in August 2014. The first framework for genetic data by leaders of Human Genome Project (1996) required the release of all genetic data after 24 hours of generation, which was changed in the NIH 2007 Genome-Wide Association Study (GWAS) policy where a 6 month embargo on the data could be permitted. However, due to certain embargo violations, the 2014 Genome Data Sharing (GDS) policy stated that human genomic data must be submitted within 3 months after generation, which may be retained by NIH for up to 6 months before public release. The policy included non-human and model-organism genetic data for the first time, but under this policy, these data can be retained by the producers until their initial analyses are published.

The author believes that since scientific advancement is fastest when data are made publicly available soonest, the provision of these embargos may be misguided. The author believes that the NIH should work on "developing approaches that strengthen the enforceability and monitoring of the embargo rather than making this data unavailable to researchers which would hinder research". Furthermore, the author argues that even though the inclusion of non-human and model-organism data is a step in the right direction, concessions made by the policy regarding the timing of data-release is disheartening. The author that the GDS policy is diminished in its effectiveness of pre-empting patents as it relies on the ruling in the Myriad case, which only prohibits the patenting of DNA molecules extracted from the human body but not man-made constructs such as cDNA, even if they duplicate the DNA sequences found in the body.
Access the article

Other European news
EUCERD Joint Action Workshop on European Reference Networks for rare diseases
The report of the workshop on European Reference Networks and European Structural Funds co-organised by the EUCERD Joint Action (www.eucerd.eu) and the Italian Presidency of the Council of the European Union in October 2014 has been published. Part of a number of rare disease centred events organised under the auspices of the Italian presidency, this workshop brought together rare disease stakeholders to revisit the EUCERD's recommendations on European Reference Networks for Rare Diseases (2013) in the light of the developments in the area of ERNs at Commission level. It also explored the possibilities for Member States to use European Structural Funds to implement their national plans/strategies for rare diseases. The workshop participants recommended that certain areas of the EUCERD's recommendations on ERNs be clarified and that extra guidance be provided to the rare disease community to prepare for the creation of ERNs, notably concerning possible groupings of rare diseases so as to maximise the final coverage provided by these future networks. These topics will be further discussed at the Expert Group on Rare Diseases in March 2015.
Read the Workshop Report

Related news on European Reference Networks
The Partnership for Assessment of Clinical Excellence in European Reference Network (PACE-ERN) Consortium, along EURORDIS, (the European Hospital and Healthcare Foundation) HOPE and ACCREDITATION CANADA won the call for tender of the Commission to develop an assessment manual and toolbox of the legal requirements a network must meet in order to become an ERN. This Manual will be the common assessment tool of all the Network proposals and will be based on the criteria established by the Commission Delegated and Implemented Decisions, which stem from the 2011 EU Directive on Patients' Rights in Cross-Border Healthcare, on ERN.
Additionally, websites of the pilot Networks on Rare Paediatric Cancer (ExporNet) and complex neurologic conditions (Epilepsy) funded by the Health Public Programme have been launched. The Commission also foresees the launch of its call for ERNs in December 2015 and invite stakeholders involved in providing highly specialised healthcare for rare diseases or low prevalence and complex diseases to apply.
For further information

Other International News
Genomic medicine and rare diease registries in Slovakia
In a commentary published in Molecular Genetics and Genomic Medicine, provision of medical genetics services in the Slovak Republic has been described. The authors state that Slovakia has the network and structural capabilities to provide high-level genetic services to its patients, but they lack financial resources. The authors point out that the National Health Information Centre Medical (NHIC ) genetics legislation which demands compulsory reporting of congenital abnormalities has helped the creation of the Genetic Registry in Slovakia. The NHIC also host the National Registry for Congenital Heart Defects as well as the National Cancer Registry – including rare cancers. . Additionally, the Slovak Republic Government published the “National strategy for improvement of healthcare provided to patients affected with rare disorders for years 2012–2013;” whereby Health ministry experts instituted the “National plan for improvement of healthcare provided to patients affected with rare disorders in SR” to institute better care for rare disease patients.
Go to the NHIC website
Access the article

Guidance Documents and Recommendations
Chordoma: a global consensus approach
Consult the Pubmed abstract
To read more about "Chordoma"

Lancet Oncol. ; 16(2):e71-e83 ; February 2015
Bioinformatics, Registries and Data Management
Haemophilia registries: choosing quality over quantity
An article published in Clinical Pharmacology & Therapeutics discusses the importance of registries for rare diseases as a tool for obtaining an overview of the clinical situation where points of improvement in a patients clinical progress can be monitored along with its long-term safety. For these reasons, registries are a powerful tool for providing supporting information for marketing authorisation. The authors of this article provide an overview of the landscape of existing and emerging haemophilia registries which have significant structural and content variability. They raise questions on the usability of the large and growing spectrum of different databases and registries, especially if some patients are registered in several registries whereas other patients are not registered at all. They also emphasise that there is an urgent need for a pan-European or global strategy to support consistent data. To this end, the need for transparency in data collection, harmonisation of the database structures and the convergence of scientific approaches is critical.
Access the article

The first version of the OSSE registry framework created
The first version of the OSSE registry framework created on behalf of the German Federal Ministry of Health was released at January 1st, 2015. The OSSE registry framework allows you to build your individual rare disease registry without additional programming effort including a set of basic data forms and longitudinal data forms, workflow support and role-based access control. Data entry forms rely on metadata stored in a central metadata repository, which will in the long-term lead to a new level of interoperability between registries of rare diseases. For example, your registry can participate in a cross-registry decentral search infrastructure connecting you with potential research partners while preserving your data sovereignty. The built-in pseudonymization provides not only “out of the box” support of the open source product “Mainzelliste” (or compatible pseudonymization software) including duplicate detection, but also allows authorized persons to display medical and identifying data on the same webpage while preserving the informational separation of powers. Current installation packages, guides and further information can be downloaded at http://osse-register.de. Updates with additional features will follow shortly.
An urgent need for a global governance framework for biobanks

A review published in Bulletin of World Health Organisation highlight the proliferation of biobanks in low and middle-income countries and the ethical, cross-border and benefit-sharing issues that have been introduced. The author maintains that these issues are observed mainly due to local culture, religious beliefs and poor awareness of developed countries’ concept of ethics. The author points out that the vast and varied amount of data that can be gained from biobanks in these countries is beneficial to all, but also gives various examples of how they are abused in low income countries (or populations).

The author argues that even though some international organisations have developed ethical and legal policies to promote benefit sharing and data access – such as the Human Genome Organization, United Nations Educational, Scientific and Cultural Organization’s (UNESCO’s), and the Organisation for Economic Co-operation and Development (OECD), consistent and complete authority or enforceability is lacking. Finally, the author describes the Global Alliance for Genomics and Health formed in 2013 to enable responsible data-sharing for genomic innovation and discovery. This alliance proposes a provisional Framework for Responsible Sharing of Genomic and Health-Related Data, which is currently available for comments. However, the author calls upon international organisations to join in towards forming a comprehensive global framework for biobanks.
Read the Framework for Responsible Sharing of Genomic and Health-Related Data
Access the article

In a related review published in Journal of Biorepository Science for Applied Medicine, the authors describe the current and future direction of rare diseases biobanks and discuss research and development stemming from the use of biospecimens to improve management of rare diseases. The authors reiterate the importance of sharing limited numbers of rare disease samples and achieving a critical mass and describe the collaborative efforts initiated by global networks, such as the EuroBioBank and the National Institutes of Health Rare Disease Hub. The authors also highlight how transnational and international collaborative research in rare diseases is severely hampered by the lack of common quality standards, non-harmonised data management systems, and heterogeneity of ethical and legal requirements between countries.

However, the authors believe that work is underway to create a unified system as they highlight the efforts of biobanks and biobanking networks who have developed common best practice guidelines and charters that are freely available on the Internet, such as the EuroBioBank, TNGB, and the international Public Population Project in Genomics and Society.

The authors also illustrate how rare disease research can be augmented by the use of biobanks, the clinical utility and benefits of rare disease biobanks, means to obtain funding as well the usage of coding (orphacodes) and ontologies for harmonisation of rare disease biobanks. Ethical issues such as the return of incidental findings and patient involvement and support were also discussed.
Access the article

Screening and Testing
Success of high school based screening for Tay-Sachs disease in Australia
An article published in The Application of Clinical Genetics describes the success of the Australian high-school-based Tay-Sachs disease (TSD) preconception genetic screening programs aim to screen, educate, and optimise reproductive choice for participants. TSD is a fatal, recessively inherited neurodegenerative condition of infancy and early childhood. Although rare in most other populations, the carrier frequency is one in 25 in Ashkenazi Jews. The authors observe that these high school screening programmes have demonstrated high uptake, low psychological morbidity, and have been shown to result in fewer than expected Jewish TSD-affected births over 18 years of operation. Additionally, "in Australia, recent recommendations advocate supplementing the community high school screening programs with general practitioner- and obstetrician-led genetic screening of Ashkenazi Jewish individuals for TSD and other severe recessive diseases for which this group is at risk".
Read open access article

The French model of cystic fibrosis screening newborn cohort: a way forward
An article published in Genetics in Medicine show that the Cystic Fibrosis (CF)- newborn screening (NBS) procedure implemented in France is an effective strategy for that could be easily applied in other countries. NBS for CF was implemented throughout France in 2002 which involved a four-tiered procedure: immunoreactive trypsin (IRT)/DNA/IRT/sweat. This study assessed the performance of molecular cystic fibrosis transmembrane conductance regulator (CFTR) gene analysis from the French NBS cohort, to evaluate CF incidence, mutation detection rate, and allelic heterogeneity. The authors utilised the newborn screening data collected by the Association Francaise pour le Depistageet la Prevention des Handicaps de l’Enfant and classified the identified mutations based on their potential for causing disease, to propose a diagnostic algorithm. The authors reported that the screening test along with a comprehensive CFTR gene analysis, provides an excellent detection rate of "99.77% for the mutated alleles, enabling the identification of a complete genotype in 99.55% of affected neonates". The authors believe that the "sensitivity, specificity, and positive predictive value obtained suggest that the four-tiered IRT/DNA/IRT/sweat test procedure may provide an effective strategy for newborn screening for cystic fibrosis".
Access the article

An exome sequencing strategy to diagnose lethal autosomal recessive disorders
A study published in European Journal of Human Genetics investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected foetuses. The authors performed exome sequencing to “identify genes where each parent is heterozygous for a rare non-synonymous-coding or splicing variant”. The authors found on average 1.75 genes (range 0–4) where both parents were heterozygous for rare potentially disease-causing variants. Subsequently, the authors conducted a proof-of-principle study where these variants were detected in a couple whose five foetuses had short-rib polydactyly. The also performed a prospective analysis of two couples with multiple pregnancy terminations for foetal akinesia syndrome where correct diagnoses was reached in each case. The authors concluded that "exome sequencing of parental samples can be an effective tool for diagnosing lethal recessive disorders in outbred couples permitting early prenatal diagnosis in future pregnancies".
Access the article


Ethical, Legal & Social Issues
LIKE, SHARE, HASHTAG: pharma involvement in the social network
Nature Biotechnology recently published a news review on the promises and pitfalls of social media usage by the pharmaceutical industry.

The author emphasises that even though a large number of people are involved in the social media - which has also been transformative for business, the pharmaceutical industry markedly absent in this sphere. The author highlights several reasons for this, one of them being the lack of regulatory guidance in this direction. The United States Food and Drug Administration released 2 guidance documents in 2010 for pharma involvement in the social media, which have been considered insufficient and vague by the industry. Therefore, to avoid liability, they been hesitant to step into the social networking space. Being social network savvy is also financially taxing and smaller biotech would prefer to spend on investor relations or media outreach rather than creating a presence in the social space.

The author also elucidates issues that can crop up when patients share their experiences and perspectives online. Social media can make pharmacovigilance, already a challenging field, even trickier, for example should a comment on the side effect of a drug reported on facebook or twitter be reported to the regulatory agency by the manufacturer. Another issue exemplified by the author is when patients involved in clinical trials discuss their symptoms online, which has previously led to patients discovering the placebo and experimental group of that trial.

Even then, the author regards that presence in the social space is crucial for companies in many aspects. According to the authors, it could "boost clinical trial recruitment by finding out the most burdensome aspects of trial protocols and eliminating them". Additionally, the author believes that since advocacy is spurned out of social media in the current day and age, the industry may lose its voice in influential public conversations about policy issues by not being a part of the social network.
Guidance document by FDA for social media 1
Guidance document by FDA for social media 2
Access the article


New Syndromes

New syndrome of profound intellectual disability and distinct facial characteristics in two siblings due to a homozygous EZR variant
The authors investigated the genetic cause of a novel syndrome of profound intellectual disability and distinct facial characteristics with large low-set ears, narrow nose, and thin lips in two siblings due to a homozygous EZR variant. The parents are first-degree cousins.
Consult the Pubmed abstract

Hum Mutat. ; 36(2):270-8 ; February 2015
Novel combined oxidative phosphorylation complexes I and IV deficiency with different phenotypes caused by a homozygous missense mutation in NARS2 in two siblings
A homozygous missense mutation was found in NARS2 in two siblings born to consanguineous parents. These siblings presented with different phenotypes: one had mild intellectual disability and epilepsy in childhood, whereas the other had severe myopathy. Biochemical analysis of the oxidative phosphorylation complexes in both siblings revealed a combined complex I and IV deficiency in skeletal muscle.
Consult the Pubmed abstract

Hum Mutat. ; 36(2):222-31 ; February 2015
Sweet’s syndrome in two patients with myelodysplastic syndrome and MEFV heterozygous mutations
The authors reported the finding of heterozygous mutations in MEFV in two Japanese patients with myelodysplastic syndrome and skin lesions that are consistent with Sweet’s syndrome. Both patients had a history of periodic flares of inflammatory symptoms, including antibiotic-resistant high fever with marked neutrophilia, systemic arthralgia, pericarditis, and enterocolitis, symptoms that resembled those of familial Mediterranean fever.
Consult the Pubmed abstract

N Engl J Med. ; 372(7):686-8 ; February 2015

New Genes

Atypical Singleton-Merten dysplasia with normal dentition and variable expression of glaucoma, aortic calcification and skeletal abnormalities caused by DDX58 mutations
Consult the Pubmed abstract
To read more about "Singleton-Merten dysplasia"

Am J Hum Genet. ; 96(2):266-74 ; February 2015
Singleton-Merten dysplasia due to a specific IFIH1 gain-of-function mutation
Consult the Pubmed abstract
To read more about "Singleton-Merten dysplasia"

Am J Hum Genet. ; 96(2):275-82 ; February 2015
Keppen-Lubinsky syndrome caused by de novo heterozygous mutations in KCNJ6 in three unrelated individuals
Consult the Pubmed abstract
Am J Hum Genet. ; 96(2):295-300 ; February 2015
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with TPP2 deficiency
Consult the Pubmed abstract
To read more about "Evans syndrome"

Blood ; 125(5):753-61 ; January, 2015
Cornelia de Lange syndrome linked to KMT2A and TAF6 mutations, and Wiedemann-Steiner syndrome due to SMC1A and SMC3 mutations
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"
To read more about "Wiedemann-Steiner syndrome"

J Clin Invest. ; 125(2):636-51 ; February 2015
Autism: no evidence for association with rare heterozygous point mutations in CNTNAP2
Consult the Pubmed abstract
To read more about "Autism"

PLoS Genet. ; 11(1):e1004852 ; January, 2015PLoS Genet. ; 11(1):e1004852 ; January, 2015
3-methylglutaconic aciduria type 4 associated with CLPB variants
Consult the Pubmed abstracts
To read more about "3-methylglutaconic aciduria type 4"

Am J Hum Genet. ; 96(2):245-57, 258-65 ; February 2015
Early-onset mitochondrial disorders with heterogeneous clinical presentations associated with CoQ10 deficiency caused by biallelic mutations in CoQ4 in five individuals
Consult the Pubmed abstract
Am J Hum Genet. ; 96(2):309-17 ; February 2015
Leigh syndrome linked to compound heterozygous mutations in ECHS1 in a boy
Consult the Pubmed abstract
To read more about "Leigh syndrome"

Hum Mutat. ; 36(2):232-9 ; February 2015
Jeune syndrome associated with a missense mutation in CEP120 in four families
Consult the Pubmed abstract
To read more about "Jeune syndrome"

Hum Mol Genet. ; 24(5):1410-9 ; March 2014
Focal palmoplantar keratoderma caused by a gain-of-function mutation in TRPV3 in a Chinese family
Consult the Pubmed abstract
J Invest Dermatol. ; 135(3):907-9 ; March 2014
Hashimoto struma: VAV3 as a susceptibility locus
Consult the Pubmed abstract
To read more about "Hashimoto struma"

J Clin Endocrinol Metab. ; 100(2):E319-24 ; February 2015
Behçet disease: FUT2 as a new genetic risk factor
Consult the Pubmed abstract
To read more about "Behçet disease"

Ann Rheum Dis. ; 74(3):618-24 ; March 2014
Posterior cortical atrophy may be due to GRN mutations
Consult the Pubmed abstract
To read more about "Posterior cortical atrophy"

JAMA Neurol. ; 72(2):224-8 ; February 2015
Amyotrophic lateral sclerosis could be associated with GLE1 mutations
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Hum Mol Genet. ; 24(5):1363-73 ; March 2014

Research in Action

Clinical Research
Huntington disease: triheptanoin improves brain energy metabolism at an early stage of the disease
Consult the Pubmed abstract
To read more about "Huntington disease"

Neurology ; 84(5):490-5 ; February 2015
Primary Sjögren syndrome: encouraging efficacy and safety results with belimumab
Consult the Pubmed abstract
To read more about "Primary Sjögren syndrome"

Ann Rheum Dis. ; 74(3):526-31 ; March 2014
Phenylketonuria: long-term treatment with tetrahydrobiopterin (BH4) is safe and effective in increasing tolerance to phenylalanine
Consult the abstract
To read more about "Phenylketonuria"

Orphanet Journal of Rare Diseases ; 10:14 ; 2015
Heparin-induced thrombocytopenia: fondaparinux seems to be an effective and safe alternative for the treatment
Consult the Pubmed abstract
To read more about "Heparin-induced thrombocytopenia"

Blood ; 125(6):924-9 ; February 2015
Stiff person syndrome with progressive encephalomyelitis, rigidity and myoclonus: symptoms improvement with immunoglobulin, levetiracetam and azathioprine
Consult the abstract
To read more about "Stiff person syndrome"

Internal Medicine ; 54(2):219-221 ; January, 2015
Chronic myeloid leukemia: first-line use of imatinib with selective nilotinib switching leads to excellent molecular response and survival
Consult the Pubmed abstract
To read more about "Chronic myeloid leukemia"

Blood ; 125(6):915-23 ; February 2015
Chronic lymphocytic leukemia with TP53 aberrations: encouraging activity and safety results with ibrutinib
Consult the Pubmed abstract
To read more about "B-cell chronic lymphocytic leukemia"

Lancet Oncol. ; 16(2):169-76 ; February 2015
Chemotherapy-refractory thymoma and thymic carcinoma: sunitinib could be a treatment option, however, it might lead to cardiac toxicity
Consult the Pubmed abstract
To read more about "Thymoma"
To read more about "Thymic carcinoma"

Lancet Oncol. ; 16(2):177-86 ; February 2015
Squamous cell carcinoma of head and neck: panitumumab did not confer any benefit and cannot replace cisplatin
Consult the Pubmed abstracts
To read more about "Squamous cell carcinoma of head and neck"

Lancet Oncol. ; 16(2):221-32, 208-20 ; February 2015
Papillary or follicular thyroid carcinoma: mitigated results with lenvatinib
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Papillary or follicular thyroid carcinoma"

N Engl J Med. ; 372(7):621-30 ; February 2015
Report of a case of maternally transmitted infantile spinocerebellar ataxia type 7
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 7"

JAMA Neurol. ; 72(2):219-23 ; February 2015
Jacobsen syndrome: evidence for autism spectrum disorder
Consult the Pubmed abstract
To read more about "Jacobsen syndrome"

Genet Med. ; 17(2):143-8 ; February 2015
Therapeutic Approaches

Sandhoff disease: correction of the disease after intracranial gene therapy in a feline model
Consult the Pubmed abstract
To read more about "Sandhoff disease"

Gene Ther. ; 22(2):181-9 ; February 2015
Kennedy disease: disruption of polyQ androgen receptor SUMOylation rescued exercise endurance and type I muscle fiber atrophy, and prolonged survival in a murine model
Consult the Pubmed abstract
To read more about "Kennedy disease"

J Clin Invest. ; 125(2):831-45 ; February 2015
Acquired epidermolysis bullosa: treatment with intravenous immunoglobulins is superior to systemic corticosteroids in mice
Consult the Pubmed abstract
To read more about "Acquired epidermolysis bullosa"

J Invest Dermatol. ; 135(3):768-75 ; March 2014
Proximal spinal muscular atrophy: PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model
Consult the Pubmed 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"

Mol Ther. ; 23(2):270-7 ; February 2015
Gallium maltolate inhibits human cutaneous T-cell lymphoma tumor development in mice
Consult the Pubmed abstract
J Invest Dermatol. ; 135(3):877-84 ; March 2014
Muscle disorders: human skeletal muscle xenograft as a new preclinical model
Consult the Pubmed abstract
Hum Mol Genet. ; 23(12):3180-8 ; June 2015
Spinocerebellar ataxia type 3: first knockin mouse model generated
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 3"

Hum Mol Genet. ; 24(5):1211-24 ; March 2015
Diagnostic Approaches

Creatine biosynthesis syndrome: diagnostic methods and recommendations
Consult the Pubmed abstract
To read more about "Creatine biosynthesis syndrome"

Pediatr Res. ; [Epub ahead of print] ; December 2014
Charcot-Marie-Tooth disease type 1A: measurement of nerve cross-sectional area by peripheral nerve ultrasound accurately identifies patients
Consult the Pubmed abstract
To read more about "Charcot-Marie-Tooth disease type 1A"

Neurology ; 84(6):569-74 ; February 2015
Measurement of C4 antigen can exclude diagnosis of hereditary angioedema due to C1-inhibitor deficiency
Consult the abstract
To read more about "Hereditary angioedema type 1"
To read more about "Hereditary angioedema type 2"

Orphanet Journal of Rare Diseases ; 10:11 ; 2015

Patient Management and Therapy
Delineating the 15q13.3 microdeletion syndrome phenotype
Consult the Pubmed abstract
To read more about "15q13.3 microdeletion syndrome"

Genet Med. ; 17(2):149-57 ; February 2015
Early infantile epileptic encephalopathy: phenotypic spectrum
Consult the Pubmed abstract
To read more about "Early infantile epileptic encephalopathy"

Neurology ; 84(5):480-9 ; February 2015
Graft versus host disease: review on biomarkers for diagnosis and prognosis
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Biol Blood Marrow Transplant. ; [Epub ahead of print] ; January, 2015
Hypocomplementemic urticarial vasculitis: clinical spectrum and therapeutic management
Consult the Pubmed abstract
To read more about "Hypocomplementemic urticarial vasculitis"

Arthritis Rheumatol. ; 67(2):527-34 ; February 2015
Charcot-Marie-Tooth disease: review on emerging treatments
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(2):151-164 ; February 2015
Osteogenesis imperfecta: review on treatment options
Consult the abstract
To read more about "Osteogenesis imperfecta"

Expert Opinion on Orphan Drugs ; 3(2):165-181 ; February 2015
Pseudomyxoma peritonei: review on chemotherapy and experimental strategies
Consult the abstract
To read more about "Pseudomyxoma peritonei"

Expert Opinion on Orphan Drugs ; 3(2):183-193 ; February 2015
Primary Sjögren syndrome: review on pharmacotherapy
Consult the abstract
To read more about "Primary Sjögren syndrome"

Expert Opinion on Orphan Drugs ; 3(2):125-139 ; February 2015
Fragile X syndrome: review on therapies in China
Consult the Pubmed abstract
To read more about "Fragile X syndrome"

Intractable Rare Dis Res. ; 4(1):39-48 ; February 2015
Schistosomiasis: review on chemotherapy options
Consult the abstract
To read more about "Schistosomiasis"

Expert Opinion on Orphan Drugs ; 3(2):195-205 ; February 2015
Adult T-cell leukemia/lymphoma: review on belinostat for the treatment
Consult the abstract
To read more about "Adult T-cell leukemia/lymphoma"

Expert Opinion on Orphan Drugs ; 3(2):219-227 ; February 2015
Multiple myeloma: review on panobinostat for the treatment
Consult the abstract
To read more about "Multiple myeloma"

Expert Opinion on Orphan Drugs ; 3(2):229-238 ; February 2015
Follicular lymphoma: review on advances in the treatment
Consult the abstract
To read more about "Follicular lymphoma"

Expert Opinion on Orphan Drugs ; 3(2):207-218 ; February 2015
Mucopolysaccharidosis type 2: review on diagnosis and therapy options
Consult the abstract
To read more about "Mucopolysaccharidosis type 2"

Expert Opinion on Orphan Drugs ; 3(2):141-150 ; February 2015
Fructose-1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients
Consult the Pubmed abstract
To read more about "Fructose-1,6-bisphosphatase deficiency"

J Inherit Metab Dis. ; [Epub ahead of print] ; January, 2015
Primary immune deficiencies: review on principles of care
Consult the Pubmed abstract
Front Immunol. ; 5:627 ; December 2014
Familial gastric cancer: a review
Consult the Pubmed abstract
To read more about "Familial gastric cancer"

Lancet Oncol. ; 16(2):e60-e70 ; February 2015
Special issue of Best Practice & Research Clinical Haematology on myelodysplastic syndromes
Consult the special issue
Best Practice & Research Clinical Haematology ; Volume 28, Issue 1, Pages 1-68 ; March 2014
Seven 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. Seven updated GeneReviews have been published for:
Blepharophimosis, ptosis, and epicanthus inversus
Emanuel syndrome
Red-green color vision defects
Carney complex
Fryns syndrome
Multiple cutaneous and mucosal venous malformations


Orphan Drugs
Regulatory News
FDA opens Individual Patient Expanded Access Applications for public comment
On February 4, 2015, the United States Food and Drug Administration (FDA) released a draft guidance to facilitate streamlining the individual patient expanded access application process. The Individual Expanded Access Applications: Form FDA 3926. Draft form FDA 3926 proposed by the FDA is a greatly simplified process for doctors to obtain experimental drugs for patients who are suffering from serious or life threatening illnesses and have no other alternative. The FDA has released this document for a 60 day comment from the public, meanwhile the FDA says it won’t turn away doctors who want to use it.

Patients will be eligible only when there is no other product that can diagnose, monitor or treat the patient’s disease or condition and the patient cannot be enrolled in a clinical study testing it and cannot ask the manufacturer or the insurer to pay for the medication. Additionally, the doctor must determine that the probable risk from the experimental drug is not greater than the probable risk from the disease and must ensure that the manufacturer is willing to provide it. This “right to try” law, according the FDA will give terminally ill patients the right to try experimental drugs that have passed at least the first of three phases of FDA testing (to determine safety) but have not obtained marketing authorisation yet.

Some critics of this law believe that providing these drugs prematurely may not be effective since the FDA has more information about potential risks and benefits of drugs under development than a doctor or patient is apt to know. Submit electronic comments to http://www.regulations.gov



This call for Proposals for "European Research Projects on Neurodevelopmental Disorders" is aimed to facilitate multinational, collaborative research projects that will address important questions relating to the neurodevelopmental nature of neurological and psychiatric disorders. The call will accept proposals ranging from understanding basic mechanisms of disease through proof of concept clinical studies in humans.
Deadline for pre-proposal submission: 9 March, 2015 14:00 CET

For further information

The EU Joint Programme – Neurodegenerative Disease Research (JPND)
This joint transnational co-funded call is launched in partnership with the European Commission under the ERA-NET Co-fund scheme with the aim to tackle this leading medical and societal challenge faced by our society. Three priority topics form the basis for the Call – Longitudinal Cohorts, Advanced Experimental Models and Risk/Protective Factors. These three topics have emerged through a consultative process between research opinion leaders and JPND member organisations, focussed on delivering the understanding, tools and capabilities to underpin the development of new preventive and therapeutic approaches for neurodegenerative diseases.

Funding: The total fund for this call is over 30 million euro (for all participating countries) with a 10 million euro European Commission “topping up” fund.
Deadline: The pre-proposal submission deadline is 23:59 (C.E.T) on the 10th of March, 2015.
For further information

NBIA Disorders Association Grant for Neurodegeneration with Brain Iron Accumulation (NBIA)
The purpose of the NBIA Disorders Association Research Grant Program is to encourage meritorious research studies designed to improve the diagnosis or treatment of NBIA. The research can be conducted in countries where adequate supervision of grant administration is possible. The NBIA Disorders Association is accepting applications for one-year grants for clinical and translational research studies related to the early detection, diagnosis, or treatment of patients with NBIA. Application Deadline: April 1, 2015
For further information

DEBRA International : Call for research proposals, 2015
DEBRA International is now inviting expressions of interest for funding support of clinical research and clinical trials targeting therapy development and symptom relief for epidermolysis bullosa (EB). There is a two stage application process, with a submission deadline for stage 1 proposals (expressions of interest) on 1 April 2015. Proposals are invited which make a breakthrough in developing therapies that address the underlying causes or the life limiting consequences of EB (e.g. EB related squamous cell carcinoma), or in developing symptom relief treatments that address clinical consequences of EB that impact upon quality of life.
For further information

The ECD Global Alliance is soliciting Letters of Intent for funding of research projects focused on the study of Erdheim-Chester Disease
All investigation proposals will be considered and all qualified and interested investigators are encouraged to submit. As appropriate, submitted studies should consider inclusion of the following: Collaboration among investigators from different institutions as well as translation of findings into the clinical setting.
Maximum Amount of Monies to be Awarded: Up to $100,000 USD (total)
Duration of Grant: 1 Year
LOI Deadline: April 2, 2015

For further information

The Ataxia of Charlevoix-Saguenay Foundation
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Application Deadline: May 22, 2015
For further information

ERare: Joint Transnational Call 2015
On the 15th of December 2014 ERare opened the seventh ERare joint call for funding multilateral research projects on rare diseases (JTC 2015) together with the European Commission (EC) under the ERANet cofund mechanism. The call is expected to be opened simultaneously by the parties in their respective countries. The following 17 countries (23 funding agencies) intend to participate in this call: Austria, Belgium (Flanders and French speaking community), Canada (including Québec), France, Germany, Greece, Hungary, Israel, Italy, Latvia, Poland,Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.
The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition. For more information, details of the topic, eligibility criteria and timeline go to www.erare.eu


Courses & Educational Initiatives

European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
Date: February/March of each year
Venue: Nimes, France

It is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification.
For further information

The 3rd Edition of Orphan Drug & Rare Disease Seminar
Date: 27 March, 2015
Venue: Lyon, France

This training seminar, organised by FCRIN and Eudipharm aims at raising awareness among clinical research actors on the drug development specificities for rare diseases. This third edition will attempt to answer that very “hot” topic by providing clinical research professionals and project carriers with tools and solutions, thanks to the participation of clinical research experts and authorities.
For further information

Date: 1-5 June, 2015
Venue: Barcelona, Spain

ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
For further information contact Nancy Hamilton
Visit the EURORDIS website for more information.

3rd radiz Rare Diseases Summer School
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd 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 summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
Visit the EURORDIS website for more information.

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
Advanced metabolic course: Controversies in management
Date: 11-13 March, 2015
Venue: Manchester, UK

in partnership with Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust.
For Further Information

The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 21-23 May, 2015
Venue: Washington DC, US

Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
Registration deadline: 8th April

Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
Date: 24-26 June 2015
Venue: Paris, France

in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
Registration deadline: 13th May

Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

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

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

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


What's on Where?

2nd International Klaus Betke Symposium on Pediatric Hematology
Date: 6–7 March, 2015
Venue: Munich, Germany

The conference will focus on Rare Diseases of the Human Immune System – Neutrophil Granulocytes and Biology of Mitochondria
For further information

The Third International Sympoisum on NLSD/TGCV
Date: 13–15 March, 2015
Venue: Tokyo, Japan

The symposium will move forward to further understand their pathophysiology and consider possible therapeutic strategies for Neutral Lipid Storage Disease (NLSD) and Triglyceride Deposit Cardiomyovasculopathy (TGCV)
For further information

The ACMG Annual Clinical Genetics Meeting
Date: 24–28 March, 2015
Venue: Utah, United States

The ACMG Meeting is the preeminent annual gathering of the leaders in the field of genetic and genomics and will provide genetics professionals with the opportunity to learn how genetics and clinical practice. The ACMG Annual Meeting Program Committee has developed present the latest developments and research in clinical genetics and genomics.
For further information

Rare Diseases Summit Australia
Date: 27–28 March, 2015
Venue: Melbourne, Australia

The Rare Disease Summit will brings together opinion leaders from patient, healthcare, research, government and industry organisations to share knowledge and insights for to progress a National Plan for Rare Diseases for Australia
For further information

3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: From Better Start to Better Living
Date: 11-12 April, 2015
Venue: Melbourne, Australia

The theme of this conference is “From better start to better living” and will provide an opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise.
For further information

Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
Date: 16-17 April, 2015
Venue: Seville, Spain

Genetic Insider The connection platform among European and American clinical professionals and industry, to promote the necessary partnership networks for rare diseases.
For further information

3Gb-TEST course on NGS: Next-generation sequencing in a diagnostic setting
Date: 20-23 April, 2015
Venue: Prague, Czech Republic

A 4-day course on Next Generation Sequencing in Prague - Czech Republic in the period of 20-23th April 2015. The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (limited places). The course will also include an evening symposium co-organised by Milan Macek; “Genotranslation: Interpretation of genome data in diagnostics”.
For further information

13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation
Date: 27 April, 2015
Venue: Leiden, Netherlands

The meeting aims to present the latest developments in the field, the best methodologies for scanning, sequencing, bioinformatic, analysis and functional testing.
For further information

2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
Date: 27-29 April, 2015
Venue: Crete, Greece

European funded research consortium GENCODYS exploits a multilevel approach to resolve the integrative networks in intellectual disabilities. The conference will bring together about 150 top researchers, medical doctors and patient representatives in the field of Cognitive Research and related activities.
Talks and submissions for talks have to be related to studies of cognitive dysfunction but can include other fields, namely genetics, cellular, molecular and physiological studies, genomics and epigenomics and bioinformatics.
For further information

6th International conferences on ectodermal dysplasia
Date: 27-30 May, 2015
Venue: Oslo, Norway

The conference will attract medical and dental clinicians and researchers from many countries in addition to patient organisation leaders from all over the world.
For further information

Trisomy 21 Research Society (T21RS) International Conference
Date: 4-6 June, 2015
Venue: Paris, France

T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
For further information

The European Human Genetics Conference 2015
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

22nd International Meeting of the Pediatric Colorectal Club 2015
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

Tourette Syndrome Congress 2015
Date: 24-26 June, 2015
Venue: London, UK

The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for linicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionslas with an interest in current research, diagnosis and treatment of these and related conditions.
For further information

7th International Conference on Children’s Bone Health
Date: 27-30 June, 2015
Venue: Salzburg, Austria

The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
The call for abstracts opens in September 2014.
Abstract deadline: 6 February 2015.
For further information

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Salzburg, Austria

The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
For further information

10th European Cytogenetics Conference
Date: 4-7 July, 2015
Venue: Strasbourg, France

The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further information

4th International RASopathies Symposium
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
Date: 23-26 July, 2015
Venue: Missoouri, US

The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
For further information

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation (CDG)
Date: 28-30 August, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

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

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

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

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

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

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

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

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

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

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

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

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


Commercial events

Pharma Pricing and Market Access Congress 2015
Date: 24-26 February, 2015
Venue: London, UK

The conference provides information on the latest policies affecting market access from payers, HTA authorities and leading industry experts.
For further information

World Orphan Drug Congress USA 2015
Date: 3-7 April, 2015
Venue: Maryland, USA

World Orphan Drug Congress is the premier commercial event for the global rare disease industry. Differentiate yourself from the competition by discovering the latest strategies for sustainability, pricing and reimbursement, commercialization and global market access.
For further information

10th annual World Stem Cells & Regenerative Medicine Congress
Date: 20-22 May, 2015
Venue: Maryland, USA

Discover and understand how industry leaders view the clinical and commercial futures of stem cells and regenerative medicine and the effect it will have on business.
For further information

Pan-Omics Summit
Date: 21-22 May, 2015
Venue: Massachusetts , US

Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
For further information

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts , US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

World Orphan Drug Congress Asia 2015
Date: 3-4 June, 2015
Venue: Singapore

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information


Media, Press & Publications
Rare disease documentary nominated for the Oscar awards

Above is the trailer of a documentary of a family’s experience of living with a child with a rare genetic disorder – Ondines Curse. This moving documentary called “Our Curse” was nominated for an Oscar Award, held earlier this week, in the Short Subject Documentary section. The documentary was recorded by the parents as a form of therapy to deal with the tremendous challenges faced by them while raising their son. Although it did not win, the awareness that the documentary created was immense, not only for Ondines Curse but for all families that are living day to day with a rare disease.


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antonia Mills, Antoni Monserrat, Ana Rath, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

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