24 May 2016 print
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Orphanet Activity Report

Orphanet, the reference portal for rare diseases and orphan drugs with partnerships in 40 countries, has published its annual activity report for the year 2015.

It details the activities of Orphanet, while stressing the highlights of the past year. These include:

• Coordination of joint action of the Member States of the European Union 2015-2018 on rare diseases with Orphanet RD-ACTION;
• The evolution of the Orphanet database to a viable European model which is also one of the RD-ACTION objectives;
• Orphanet and the Orphanet ontolology ORDO received the 'IRDiRC Recommended' label;
• Orphanet was integrated as the 30th platform of the French Institute of Bioinformatics (IFB);
• Improving the transparency and traceability;
• Orphanet has updated scientific databases and expert resources;
• The update of Orphanet Reports;
• Improved search tools in the Orphanet website;
• Collaboration between IHTSDO (International Health Terminology Standards Development Organisation) and Orphanet to improve the visibility of rare diseases in SNOMED CT;
• The progress of the addition of ORPHA codes to European national health systems.
• The launch of the application ORPHA GUIDES.
Read the 2015 Activity Report Orphanet.

Spotlight on...
Philippines signs the Rare Disease Act
In Philippines a new law has been signed a law that will help persons with rare disease have better access to comprehensive medical care.

Signed on March 3, the Rare Diseases Act of the Philippines defines rare diseases as “disorders such as inherited metabolic disorders and other disease with similar rare occurrence as recognised by the Department of Health (DOH) but excluding catastrophic forms of more frequently occurring diseases.” The DOH will lead the implementation of the Rare Diseases Act and also convene a technical working group to provide education and information on rare diseases. Rare disease patients in Philippines will now be considered as persons with disabilities, who will be able to avail privileges like priority programmes and discounts.

In coordination with the National Institute of Health (NIH), the DOH will create a rare disease registry. The DOH, NIH and the Food and Drug Administration will also work together towards providing drugs and diagnostics to rare disease patients.

In terms of social welfare, the law directs the Department of Labour and Employment to provide employment opportunities for able persons with rare diseases. The Department of the Interior and Local Government and the Department of Education are also directed by the law to ensure opportunity for public service and education for people with rare diseases, and the privileges relevant to these agencies will be given. Persons with rare diseases may avail of medical assistance and benefits provided by the Philippines Health Insurance Corporation and by the Sin Tax Reform Act.

Finally, the Department of Science and Technology in the Philippines will provide funds towards research to the study of rare diseases and their treatment.
Read the Rare Disease Act of Philippines


EU Policy News
Cooperation between European Medicines Agency and Health Technology Assessment bodies creates synergies
European Medicines Agency (ΕΜΑ) and EUnetHTA have published the outcome of joint 2012-2015 work plan, which highlights the “value of collaboration that fosters an approach to the generation of data on medicines, pre and post-authorisation, that reconciles regulatory and HTA requirements into one clinical development programme.”
Read the report

EMA report on integrating patients’ views in clinical studies of anticancer medicines
A guidance document issued by the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) and its Oncology Working Party (ONCWP) describes the use of Patient Reported Outcomes (PROs) and health related quality of life (HRQL) measures in clinical studies. This is especially important to obtain the perspective of patients as the treatment significantly impacts their well-being.

The new guidance provides:
“Recommendations for the incorporation of PROs and HRQL in the clinical development of anticancer medicines;
• Advice on appropriate design, conduct and analysis of PRO studies.”

Read the report


National & International Policy Developments
Other European news
European Survey on Standards of Care in paediatric oncology centres
The results of a survey on the quality of treatment and care received by paediatric oncology patients in Europe is published in European Journal of Cancer. This survey was launched in 2013 by the European Paediatric Oncology Society to assess the implementation of the Standards in Europe. Responses from experts in 35 European countries are compiled in this review which provides the current scenario of healthcare provision. The survey showed that there was considerable variation in diagnostic services, access to treatment supportive and palliative care among these European countries. Consecutively, this may affect the survival rates of the children in countries with fewer resources.
Access the article

Other International News
Prevalence data on orphan lung diseases in the Australia-New Zealand region
An article published in the Orphanet Journal of Rare Diseases describes a web-based registry named the Australasian Registry Network of Orphan Lung Diseases (ARNOLD), that records the prevalence of multiple orphan lung diseases in Australia and New Zealand. The registry collected data from respiratory physicians and recorded prevalence date on 30 rare lung diseases. Although under-reporting was a drawback, this registry serves to be an important platform to receive data on rare lung diseases in the Australia – New Zealand region.
Read the article

Management of patients with inherited metabolic disorders in Pakistan
Consanguineous unions in Pakistan’s have resulted in a significant burden of inherited metabolic disorders (IMDs), which is compounded by the lack of genetic and clinical services for these patients. An article published in The Egyptian Journal of Medical Human Genetics has presented the experience of a metabolic unit at a tertiary care hospital in Pakistan. As expected, the authors found that in this unit, 78% of the children with IMD had consanguineous parents, but only 36% of these patients underwent metabolic biochemical testing. The authors also express the difficulty in obtaining a diagnosis for these patients, as less than 20% received a definite diagnosis. They recommend that “preventive strategies including prenatal genetic testing and cascade screening for at risk individuals can help in reducing the financial burden on the already stretched health care system of Pakistan.”
Access the article

NGO Committee for Rare Diseases - United Nations, New York
A new NGO Committee for Rare Diseases has been established under the umbrella of the Conference of NGOs with Conference of NGOs with Consultative Status to the United Nations Economic and Social Council (CoNGO).

The mission of CoNGO is to facilitate the participation of NGOs in the United Nations system. CONGO's vision is to be the primary support and platform for a civil society represented by a global community of informed, empowered and committed NGOs that fully participate with the UN in decision-making and programs leading to a better world, a world of economic and social justice.

The purpose of the NGO Committee for Rare Diseases will be to serve as an advocacy platform uniting around the issue of rare diseases a diversity of constituents which need to be more closely connected and collaborating with each other, including: the international NGO community, major UN agencies, national governments, the academic and scientific world as well as the private sector.

The NGO Committee for Rare Diseases shall endeavour to improve the visibility and understanding of rare diseases within the United Nations system and at the global level, but also to help extend the current body of knowledge about the spread and impact of rare diseases across the world. It will also help to open up new avenues for cooperation with international NGOs in other fields with which connections with rare diseases can be identified - e.g. disability, children's rights, to name but a few.

The NGO Committee for Rare Diseases was initiated in 2014 by the Agrenska Foundation of Sweden, which helped secure a vote of CoNGO member organisations in favour of the creation of the Committee. The Agrenska Foundation was then joined by EURORDIS-Rare Diseases Europe for the Committee's "inception" meeting as a Substantive NGO Committee within CoNGO, which took place in October 2015 in New York.

The formal inauguration of the Committee is currently scheduled for Tuesday 8 November 2016 at an all-day event at the United Nations headquarters in New York.

ALMOHA accomplishes its first mission to children with rare diseases and disabilities in Cameroon
From 22 April to 22 May 2016, the association against rare diseases, orphan diseases and disability (ALMOHA) sent its first surgery mission to aid children with rare diseases and disabilities in Cameroon. Created in 2009 by Nadine Abondo, the association is composed of a team of volunteers in Africa and France that conduct courses of actions aimed to raise awareness on rare diseases, birth defects and disabilities and especially to take care of patients. Ignorance of these diseases in Africa isolates families and leads to neglect and abandonment of children.

Eleven humanitarian missions have been carried out by this NGO which helped 2,500 children. Through this association, the first house of rare diseases was created in Yaounde, Cameroon. Vocational training has been carried out and preliminary mapping of rare diseases was conducted in sub-Saharan Africa.

From 2016 to 2017, ALMOHA is launching a fundraising campaign to continue to change the mindset of people and support patients and their families.
To know more

Advisers to FDA Vote Against Duchenne Muscular Dystrophy Drug

The United States Food and Drug Administration (FDA) voted to not recommend the approval of eteplirsen, which would have been the first drug for Duchenne muscular dystrophy (DMD). According to the manufacturers - Sarepta Therapeutics, this drug prolonged the ability of boys with the disease to walk well beyond when they would normally be in wheelchairs. However, the study involved only 12 patients without an adequate placebo control. This was one of the main reasons of the rejection, despite impassioned pleas from patients, parents and doctors, which lasted more than 3 hours, who insisted on its marketing authorisation.

Eteplirsen utilises the exon skipping technology, which partially corrects the genetic defect in DMD, allowing muscle cells to produce a somewhat functional form of dystrophin. Sarepta compared the data from the 12 boys treated with eteplirsen to historical data from patients in Italy and Belgium. The main measure was how far the boys could walk in six minutes, which 10 of the 12 boys on the drug were still able to walk after four years, versus only three of 13 in the control group.

However, the FDA felt that comparisons to historical data can be misleading and that the drug may not be effective in a randomised trial against a placebo. They also said that the walking ability of the boys was within the range of natural variation and it was uncertain whether the drug led to increased dystrophin production or whether the amount produced was beneficial.

Earlier this year, the FDA declined approval of drisapersen (Kyndrisa, Biomarin Pharmaceutical Inc) for the treatment of DMD, after the FDA advisory committee recommended against it.
Read the New York Times article on this topic

Initiative on Rare and Undiagnosed Diseases in Japan
Japan Agency for Medical Research and Development (AMED) launched the Initiative on Rare and Undiagnosed Diseases (IRUD), last year. This is a nationwide consortium assists networking of patients, medical doctors at hospitals and community clinics, and researchers. They aim to integrate their efforts and expertise, and exploit the information obtained by genome analysis to provide the diagnoses to patients with rare and undiagnosed diseases. It follows the examples of the Undiagnosed Diseases Program by the U.S. National Institutes of Health and the Deciphering Developmental Disorders project in the U.K.

The project includes the establishment of a genome database of people with rare diseases. In order to facilitate the diagnosis of rare diseases, IRUD will setup the data sharing system for future research.
To know more

ARGENTINA: Course on Rare Diseases support by Telemedicine
Last May 4th, the National Programme for Rare Diseases and Congenital Defects of the Ministry of Health of Argentina launched an interactive course on Rare Diseases aimed at strengthening the diagnosis of low prevalence diseases.The course duration is of six months and is intended for pediatrics, family medicine and GP residents of public hospitals.The training will be conducted through on online discussion on clinical cases and biweekly telemedicine meetings (Cibersalud). During the online discussion, each residence group analyzes a particular case which will be discussed during the telemedicine session.

The aim of this interactive training space is to promote critical thinking, participatory discussion, the use of information technologies and communication for educational purposes on the daily practice of pacients with rare diseases. Residents are expected to demonstrate interpersonal and communication skills resulting in effective information exchange with other members of the healthcare team to solve clinical cases. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis. This type of training and discussion spaces will improve the quality of health care for people with a rare disease diagnosis, as well as develop key signs that would prompt early diagnosis of rare diseases.

Guidance Documents and Recommendations
Cystic fibrosis: guidelines for preimplantation genetic diagnosis
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Eur J Hum Genet. ; 24(4):469-78 ; April 2016
Hereditary haemochromatosis: guidelines for the genetic diagnosis
Consult the Pubmed abstract
To read more about "Rare hereditary hemochromatosis"

Eur J Hum Genet. ; 24(4):479-95 ; April 2016
Haemophilia: guidelines on prophylaxis for surgery
Consult the Pubmed abstract
To read more about "Hemophilia"

Eur J Haematol. ; 96(5):461-74 ; May 2016

Ethical, Legal & Social Issues
Parental perception of the utility of genetic research in general is linked to parents' expection for their own child
Parents who opt to send their children suffering from a rare disease, for genetic testing research, do so sometimes with either very high or low expectations. To investigate how the expected utility of parents receiving individual research on their child from genomic research study published in Plos One as compared to its actual utility. The authors found that the frame of mind of the parents is directly correlated with the expected utility. When they had mixed or negative emotions about the expected results they view the utility as lower as compared to those who expressed positive emotions. The authors advocate an informed consent process in order to provide the parents realistic evidence of the utility of the test results.
Access the article

Reaction of young adults on receiving gene-positive Huntington Disease results
Predictive testing for Huntington disease (HD) – an incurable progressive neurodegenerative disorder - is availed by asymptomatic at-risk individuals, typically less than 35 years old. A study published in Journal of Genetic Counselling examines the influence that a gene-positive diagnosis can affect young adults who are entering, or in a crucial phase of their personal and professional lives. The study found that receiving this diagnosis can clearly influence their decisions and even lead to a feeling of urgency to achieve the desired milestones. These young adults also believe that a genetic counselling approach catered to their unique needs and concerns. The authors call for “further research, intervention and advocacy from professionals within the health and social systems.”
Read the pubmed abstract

Direct and indirect costs of epidermolysis bullosa in Europe
An article published in European Journal of Health Economics studied “the social/economic costs and health-related quality of life (HRQOL) of patients with epidermolysis bullosa (EB) in eight EU member states.” The study provides a detailed analysis of annual costs, which included the estimated direct healthcare and non-healthcare costs resulting from informal care use. Costs covered a broad range from country to country and also varied between different disability and children and adults. The average annual costs were highest in Italy and lowest in Sweden. The authors also found that “EB had a consistent impact on the HRQOL of patients and their caregivers regardless of the country.” The authors point out the importance of not restricting cost analysis to direct healthcare costs.
Read the pubmed abstract

Understanding the psychosocial effects of whole exome sequencing test results on parents of children with rare diseases
To understand how parents react to whole exome sequencing (WES) to diagnose children with rare genetic diseases, Journal of Genetic Counselling has published results of a qualitative study on this topic. According to this study receipt of test results “evoked ambivalent feelings” among the parents. A conclusive diagnosis led the parents to

“1) become more accepting towards the situation;
2) cope with feelings of guilt;
3) deal with the outside world;
4) attune caregiving activities to the child’s needs
5) confirmed that they were on the right track with regard to arranging therapies for the child
6) adjust caring activities more to the needs of the child, and also
7) elicit new worries, such as in the case of the potential X-linked mutations which were identified in the mother.”
The authors also said that the parents who did not receive a conclusive diagnosis continued to live in uncertainity, hoping for a further research into their child’s condition.
Read the pubmed abstract


New Syndromes

Intellectual disability, hypotonia, dysmorphic features, hyperactivity and aggression caused by loss-of-function variants in HIVEP2 in three individuals
Applying whole exome sequencing to patients with intellectual disability or global developmental delay at different centres, the authors identified three individuals with distinct de novo variants in HIVEP2. All three patients presented with moderate to severe intellectual disability, minimal structural brain anomalies, hypotonia, and mild dysmorphic features. Growth parameters were in the normal range except for borderline microcephaly at birth in one patient. Two of the patients exhibited behavioural anomalies including hyperactivity and aggression.
Consult the Pubmed abstract

Eur J Hum Genet. ; 24(4):556-61 ; April 2016
Leigh-like encephalopathy, optic atrophy and peripheral neuropathy due to loss of MFF in three patients from two families
The authors investigated three new patients from two families with loss of function mutations in MFF. The patients became symptomatic within the first year of life, exhibiting seizures, developmental delay and acquired microcephaly. Dysphagia, spasticity and optic and peripheral neuropathy developed subsequently. Brain MRI showed Leigh-like patterns with bilateral changes of the basal ganglia and subthalamic nucleus, suggestive of impaired mitochondrial energy metabolism. However, activities of mitochondrial respiratory chain complexes were found to be normal in skeletal muscle.
Consult the Pubmed abstract

J Med Genet. ; 53(4):270-8 ; April 2016
Novel form of congenital muscle disease linked to a homozygous missense mutation in TRIP4 in four patients
The authors analysed two branches of a large consanguineous family in which four patients presented with a severe new phenotype, clinically marked by neonatal-onset muscle weakness predominantly involving axial muscles, life-threatening respiratory failure, skin abnormalities and joint hyperlaxity without contractures. Muscle biopsies showed the unreported association of multi-minicores, caps and dystrophic lesions. Genome-wide linkage analysis followed by gene and exome sequencing in patients identified a homozygous nonsense mutation in TRIP4.
Consult the Pubmed abstract

Hum Mol Genet. ; 25(8):1559-73 ; April 2016

New Genes

Pierpont syndrome caused by a heterozygous missense mutation in TBL1XR1
Consult the Pubmed abstract
J Med Genet. ; [Epub ahead of print] ; January, 2016
Rett syndrome linked to JMJD1C germline mutations
Consult the Pubmed abstract
To read more about "Rett syndrome"

Genet Med. ; 18(4):378-85 ; April 2016
Foetal akinesia deformation sequence with microlissencephaly due to de novo TUBB2B mutation
Consult the Pubmed abstract
To read more about "Microlissencephaly"

Eur J Med Genet. ; 59(4):249-56 ; April 2016
Foetal akinesia deformation sequence caused by a nonsense mutation in MYOD1
Consult the Pubmed abstract
To read more about "Fetal akinesia deformation sequence"

J Med Genet. ; 53(4):264-9 ; April 2016
Steroid-resistant nephrotic syndrome associated to mutations in NUP93, NUP205 and XPO5
Consult the Pubmed abstract
Nat Genet. ; 48(4):457-65 ; April 2016
Autosomal-dominant Charcot-Marie-Tooth disease type 2 linked to DGAT2 mutation in a family
Consult the Pubmed abstract
Hum Mutat. ; 37(5):473-80 ; May 2016
Phakomatosis pigmentovascularis associated with mosaic activating mutations in GNA11 and GNAQ
Consult the Pubmed abstract
To read more about "Phakomatosis pigmentovascularis"

J Invest Dermatol. ; 136(4):770-8 ; April 2016
Dilated cardiomyopathy and ventricular arrhythmias may not be caused by ZASP mutations
Consult the Pubmed abstract
To read more about "Familial isolated dilated cardiomyopathy"

Eur J Hum Genet. ; 24(5):666-71 ; May 2016
Coats disease and familial exudative vitreoretinopathy associated with heterozygous frameshift mutations of RCBTB1
Consult the Pubmed abstract
To read more about "Coats disease"
To read more about "Familial exudative vitreoretinopathy"

Hum Mol Genet. ; 25(8):1637-47 ; April 2016
Cerebral visual impairment due to AHDC1, NGLY1, NR2F1 and PGAP1 mutations and possibly linked to 19 candidate genes
Consult the Pubmed abstract
To read more about "Cerebral visual impairment"

Eur J Hum Genet. ; 24(5):660-5 ; May 2016
Non-syndromic retinitis pigmentosa caused by recessive mutations in POMGNT1 in three unrelated families
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Hum Mol Genet. ; 25(8):1479-88 ; April 2016
Anophthalmia, microphthalmia and coloboma linked to mutations in PAX6 and NDP
Consult the Pubmed abstract
To read more about "Anophthalmia-microphthalmia syndrome"
To read more about "Congenital primary aphakia"

Eur J Hum Genet. ; 24(4):535-41 ; April 2016
Autosomal dominant non-syndromic coloboma due to a heterozygous frameshift mutation in FZD5 in a large family
Consult the Pubmed abstract
Hum Mol Genet. ; 25(7):1382-91 ; April 2016
Sporadic and familial congenital cataracts: mutational spectrum
Consult the Pubmed abstract
Hum Mutat. ; 37(4):371-84 ; April 2016
Bladder cancer: frequent somatic CDH1 loss of function mutations in plasmacytoid variant
Consult the Pubmed abstract
To read more about "Bladder cancer"

Nat Genet. ; 48(4):356-8 ; April 2016
15q overgrowth syndrome: LRKK1 as a potential candidate gene
Consult the Pubmed abstract
To read more about "15q overgrowth syndrome"

Eur J Med Genet. ; 59(4):257-62 ; April 2016
Undetermined early-onset epileptic encephalopathy: WDR45 as a candidate gene
Consult the Pubmed abstract
To read more about "Undetermined early-onset epileptic encephalopathy"

Eur J Hum Genet. ; 24(4):615-8 ; April 2016
Iron overload and haemochromatosis: BMP6 as a susceptibility gene
Consult the Pubmed abstract
Gastroenterology ; 150(3):672-683 ; Mars 2016
Congenital hypothyroidism: JAG1 loss of function variation as novel predisposing event in the pathogenesis
Consult the Pubmed abstract
To read more about "Congenital hypothyroidism"

J Clin Endocrinol Metab. ; 101(3):861-70 ; March 2016
Glioma: BRCA2, IDH2 and HARS2 as susceptibility genes
Consult the Pubmed abstract
To read more about "Glial tumor"

Eur J Hum Genet. ; 24(5):717-24 ; May 2016

Research in Action

Clinical Research
Marfan syndrome: the use of losartan compared with atenolol does not result in significant differences
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Marfan syndrome"

Eur Heart J. ; 37(12):978-85 ; March 2016
Growth hormone deficiency: somavaratan demonstrates improvements in prepubertal children
Consult the Pubmed abstract
J Clin Endocrinol Metab. ; 101(3):1091-7 ; March 2016
Dystrophic epidermolysis bullosa: oral epigallocatechin gallate, a green tea extract, is not more effective than placebo
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Dystrophic epidermolysis bullosa"

Orphanet J Rare Dis. ; 11:31 ; March 2016
Idiopathic achalasia: endoscopic pneumodilation and laparoscopic Heller myotomy have a comparable success rate
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Idiopathic achalasia"

Gut ; 65(5):732-9 ; May 2016
Treatment of whole blood with the Mirasol pathogen reduction system reduces the incidence of transfusion-transmitted malaria
Consult the Pubmed abstract
To read more about "Malaria"

Lancet ; 387(10029):1753-61 ; April 2016
Myelodysplastic syndrome: rigosertib treatment does not improve overall survival compared with best supportive care
Consult the Pubmed abstract
To read more about "Myelodysplastic syndrome"

Lancet Oncol. ; [Epub ahead of print] ; March 2016
Malignant pleural mesothelioma: addition of bevacizumab to pemetrexed plus cisplatin significantly improves overall survival
Consult the Pubmed abstract
To read more about "Pleural mesothelioma"

Lancet ; 387(10026):1405-14 ; April 2016
Multiple myeloma: daratumumab monotherapy shows encouraging efficacy in refractory patients
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Multiple myeloma"

Lancet ; 387(10027):1551-60 ; April 2016
Advanced liposarcoma or leiomyosarcoma: eribulin treatment improves overall survival compared to dacarbazine treatment
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Liposarcoma"
To read more about "Leiomyosarcoma"

Lancet ; 387(10028):1629-37 ; April 2016
Neuroendocrine tumour of the lung or gastrointestinal: treatment with everolimus is associated with improvement in progression-free survival
Consult the Pubmed abstract
Consult this Austrian study on Orphanet
Consult this Spanish study on Orphanet

To read more about "Endocrine tumor"

Lancet ; 387(10022):968-77 ; March 2016
Statin use after a diagnosis of esophageal adenocarcinoma, but not esophageal squamous cell carcinoma, is associated with reduced mortality
Consult the Pubmed abstract
To read more about "Adenocarcinoma of esophagus"
To read more about "Squamous cell carcinoma of esophagus"

Gastroenterology ; 150(4):854-865 ; April 2016
Organic acidurias: carglumic acid is an effective treatment
Consult the Pubmed abstract
Orphanet J Rare Dis. ; 11:32 ; March 2016
Cerebrotendinous xanthomatosis: natural history
Consult the Pubmed abstract
To read more about "Cerebrotendinous xanthomatosis"

Orphanet J Rare Dis. ; 11:41 ; April 2016
Pitt-Hopkins syndrome: phenotype and natural history in 101 individuals
Consult the Pubmed abstract
To read more about "Pitt-Hopkins syndrome"

Orphanet J Rare Dis. ; 11:37 ; April 2016
Calciphylaxis is often present in patients with POEMS syndrome
Consult the Pubmed abstract
To read more about "POEMS syndrome"
To read more about "Calciphylaxis"

Orphanet J Rare Dis. ; 11:35 ; April 2016
Hypotonia-speech impairment-severe cognitive delay syndrome: phenotype extension
Consult the Pubmed abstract
To read more about "Hypotonia-speech impairment-severe cognitive delay syndrome"

Eur J Med Genet. ; 59(4):204-9 ; April 2016
Therapeutic Approaches

Huntington disease: BDNF gene therapy shows greater striatal volume in transgenic rats
Consult the Pubmed abstract
To read more about "Huntington disease"

Gene Ther. ; 23(3):283-95 ; March 2016
Cystic fibrosis: genetic deletion of keratin 8 corrects the altered bone formation and osteopenia in a mouse model
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Hum Mol Genet. ; 25(7):1281-93 ; April 2016
Autosomal dominant retinitis pigmentosa: in vivo CRISPR/Cas9 gene editing corrects retinal dystrophy in a rat model
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Mol Ther. ; 24(3):556-63 ; March 2016
Primary ciliary dyskinesia: gene editing of DNAH11 restores normal cilia motility in a cellular model
Consult the Pubmed abstract
To read more about "Primary ciliary dyskinesia"

J Med Genet. ; 53(4):242-9 ; April 2016
Facioscapulohumeral dystrophy: targeting either the mRNA polyadenylation signal and/or cleavage site is an efficient therapeutic strategy in a cellular model
Consult the Pubmed abstract
To read more about "Facioscapulohumeral dystrophy"

Hum Mol Genet. ; 25(8):1468-78 ; April 2016
Duchenne muscular dystrophy: CRISPR-mediated genome editing restores dystrophin expression and function in mice
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther. ; 24(3):564-9 ; March 2016
Primary hyperoxaluria type 1: dicer-substrate small interfering RNAs reduces calcium oxalate deposition in a mouse model
Consult the Pubmed abstract
To read more about "Primary hyperoxaluria type 1"

Mol Ther. ; 24(4):770-8 ; April 2016
Disorder of urea cycle metabolism and ammonia detoxification: adeno-associated virus-mediated gene correction using CRISPR-Cas9 increases survival in newborn mice
Consult the Pubmed abstract
To read more about "Disorder of urea cycle metabolism and ammonia detoxification"

Nat Biotechnol. ; 34(3):334-8 ; March 2016
Sclerosing cholangitis: engineered fibroblast growth factor 19 reduces liver injury and resolves the disease in mice
Consult the Pubmed abstract
To read more about "Sclerosing cholangitis"

Hepatology ; 63(3):914-29 ; March 2016
Ebola haemorrhagic fever: therapeutic efficacy of the small molecule GS-5734, a monophosphoramidate prodrug of an adenosine analogue, in rhesus monkeys
Consult the Pubmed abstract
To read more about "Ebola hemorrhagic fever"

Nature ; 531(7594):381-5 ; March 2016
Familial dysautonomia: new humanised mouse model
Consult the Pubmed abstract
To read more about "Familial dysautonomia"

Hum Mol Genet. ; 25(6):1116-28 ; March 2016
Diagnostic Approaches

Cystic fibrosis: improving newborn screening using next-generation sequencing technology
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Genet Med. ; 18(3):231-8 ; March 2016
Utility of whole-genome sequencing for detection of newborn screening disorders
Consult the Pubmed abstract
Genet Med. ; 18(3):221-30 ; March 2016
Genomic array should be the preferred first-tier technique in foetuses with ultrasound anomalies
Consult the Pubmed abstract
Eur J Hum Genet. ; 24(5):645-51 ; May 2016
TAFRO syndrome: diagnostic criteria
Consult the Pubmed abstract
Int J Hematol. ; [Epub ahead of print] ; March 2016
Gaucher disease type 1: dried blood spot is an important tool to facilitate the diagnosis
Consult the Pubmed abstract
To read more about "Gaucher disease type 1"

Eur J Haematol. ; 96(4):352-9 ; April 2016
Primary aldosteronism: 18F-CDP2230 as a novel CYP11B2-specific imaging agent for detection of unilateral subtypes
Consult the Pubmed abstract
J Clin Endocrinol Metab. ; 101(3):1008-15 ; March 2016
Immune thrombocytopenic purpura: flow cytometric measurement of platelet-associated immunoglobulin in children
Consult the Pubmed abstract
To read more about "Immune thrombocytopenic purpura"

Eur J Haematol. ; 96(4):397-403 ; April 2016
Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy
Consult the Pubmed abstract
J Med Genet. ; [Epub ahead of print] ; September 2015
Sarcoma: molecular genetic testing should be mandatory for diagnostic accuracy and appropriate clinical management
Consult the Pubmed abstract
Lancet Oncol. ; [Epub ahead of print] ; March 2016

Patient Management and Therapy
Monogenic diseases: review on current progress in therapeutic gene editing
Consult the Pubmed abstract
Mol Ther. ; 24(3):465-74 ; March 2016
Huntington disease: review on peptide-based therapies
Consult the Pubmed abstract
To read more about "Huntington disease"

Orphanet J Rare Dis. ; 11:24 ; March 2016
Neuronal ceroid lipofuscinosis: review on therapeutic strategies
Consult the Pubmed abstract
To read more about "Neuronal ceroid lipofuscinosis"

Orphanet J Rare Dis. ; 11:40 ; April 2016
Hepatocellular carcinoma: review on liver transplantation
Consult the Pubmed abstract
To read more about "Hepatocellular carcinoma"

Hepatology ; 63(3):1014-25 ; March 2016
Acromesomelic dysplasia: review on genetics
Consult the Pubmed abstract
To read more about "Acromesomelic dysplasia"

Eur J Med Genet. ; 59(4):198-203 ; April 2016
Down syndrome: review on dementia
Consult the abstract
To read more about "Down syndrome"

The Lancet Neurology ; 15(6):622-636 ; May 2016
Neurological disorders associated with striatal lesions: review on classification and diagnosis
Consult the Pubmed abstract
Curr Neurol Neurosci Rep. ; 16(6):54 ; June 2016
Congenital fibrinogen deficiency: review on clinical features and management
Consult the Pubmed abstract
To read more about "Congenital fibrinogen deficiency"

Semin Thromb Hemost. ; [Epub ahead of print] ; March 2016
Vogt-Koyanagi-Harada disease: a review
Consult the Pubmed abstract
To read more about "Vogt-Koyanagi-Harada disease"

Orphanet J Rare Dis. ; 11:29 ; March 2016
Osteogenesis imperfecta: a review
Consult the Pubmed abstract
To read more about "Osteogenesis imperfecta"

Lancet ; 387(10028):1657-71 ; April 2016
Arrhythmogenic cardiomyopathy: a review
Consult the Pubmed abstract
Orphanet J Rare Dis. ; 11:33 ; April 2016
Systemic mastocytosis: review on diagnosis and treatment
Consult the Pubmed abstract
To read more about "Systemic mastocytosis"

Ann Med. ; 48(3):190-201 ; March 2016
Cystinosis: a review
Consult the Pubmed abstract
To read more about "Cystinosis"

Orphanet J Rare Dis. ; 11:47 ; April 2016
Hepatocellular carcinoma: review on diagnosis and treatment
Consult the Pubmed abstract
To read more about "Hepatocellular carcinoma"

Gastroenterology ; 150(4):835-53 ; April 2016
Nasopharyngeal carcinoma: a review
Consult the Pubmed abstract
To read more about "Nasopharyngeal carcinoma"

Lancet ; 387(10022):1012-24 ; March 2016
Germ cell tumour of testis: a review
Consult the Pubmed abstract
To read more about "Germ cell tumor of testis"

Lancet ; 387(10029):1762-74 ; April 2016
Paediatric extracranial germ-cell tumours: a review
Consult the abstract
The Lancet Oncology ; 17(4):e149-e162 ; April 2016
Lymphoblastic leukaemia: review on biology, diagnosis and treatment
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"

Eur J Haematol. ; 96(5):447-60 ; March 2016
Special issue of ‘Human Molecular Genetics’ on gene therapy
Consult the special issue
Human Molecular Genetics ; Volume 25 Issue R1 ; April 2016
Special issue of ‘European Journal of Medical Genetics’ on acute lymphoblastic leukaemia
Consult the special issue
To read more about "Acute lymphoblastic leukemia"

Medical Genetics. ; 59(3):111-178 ; March 2016
One new and one updated Clinical Utility Gene Cards published in the European Journal of Human Genetics
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.

The European Journal of Human Genetics has published one new Clinical Utility Gene Card for:
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement

The European Journal of Human Genetics has published one updated Clinical Utility Gene Card for:
Acrodermatitis enteropathica

One new and three updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. One new GeneReviews has been published for:
Adams-Oliver syndrome

Three updated GeneReviews have been published for:
Cerebrotendinous xanthomatosis
Ornithine transcarbamylase deficiency
X-linked severe combined immunodeficiency


Orphan Drugs
Regulatory News
Accessing the accelerated approval pathway for rare disease therapeutics
A commentary published in Nature Biotechnology stresses on the need for more practical qualification criteria for the accelerated approval pathway to foster the development of therapies for rare genetic diseases.” The authors state that in the first 16 years of the accelerated approval pathway, in the United States, only one rare genetic disease therapy, Fabrazyme was approved by the FDA with novel biomarker endpoints.

The authors believe, this is because there is a need for an improved process to qualify biomarker endpoints especially for rare diseases. According to them “the rarity of the indications in some cases and the biological challenges that exist for some diseases like slowly progressive neurological diseases, biomarker endpoints should play a necessary, central role in the process of approving drugs for rare diseases by the accelerated approval pathway, particularly when the clinical endpoints are not practical or possible.” They specify that FDA has not addressed this adequately in their guidance documents on expedited pathways and it remains insufficiently defined.

The authors provide a set of high-level considerations that will “assist in achieving higher quality organised scientific work early in a development program to support or refute the use of a given biomarker as a relevant measure.”
Access the article

Positive opinions recommending orphan designations at the March and April COMP meetings

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted eighteen positive opinions issued at the March 2016 COMP meeting for the:

- prevention of cytomegalovirus disease
- treatment of soft tissue sarcoma
- treatment of acute myeloid leukaemia
- treatment of X-linked spinal and bulbar muscular atrophy
- treatment of acute myeloid leukaemia
- treatment of Leber’s congenital amaurosis
- treatment of epidermolysis bullosa
- treatment of systemic sclerosis
- prevention of graft-versus-host disease
- treatment of multiple symmetric lipomatosis
- treatment of non-infectious uveitis
- treatment of progressive supranuclear palsy
- treatment of beta thalassaemia intermedia and major
- treatment of Angelman syndrome
- treatment of amyotrophic lateral sclerosis
- treatment of cutaneous T-cell lymphoma
- treatment of pantothenate-kinase-associated neurodegeneration
- treatment of malignant mesothelioma

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted fourteen positive opinions issued at the April 2016 COMP meeting for:

- treatment of inclusion body myositis
- treatment of paroxysmal nocturnal haemoglobinuria
- treatment of biliary tract cancer
- treatment of retinitis pigmentosa
- treatment of beta thalassaemia intermedia and major
- treatment of amyotrophic lateral sclerosis
- treatment of interstitial cystitis
- treatment of homocystinuria
- treatment of retinitis pigmentosa caused by mutations in the RPGR gene
- treatment of graft-versus-host disease
- treatment of small cell lung cancer
- treatment of cystic fibrosis
- treatment of adrenoleukodystrophy
- treatment of Langerhans’ cell histiocytosis

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



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

Medical Research Grant Application Guidelines : Progeria Research Foundation
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
AFM Telethon: Call for proposals
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

International Call for Translational Research Projects focused on RNA as therapeutic target or as therapeutic product
AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Translational Research Projects on RNA as therapeutic target or as therapeutic product. This call is open to any research project aimed at accelerating promising research towards innovative therapies for neuromuscular and rare disorders, using RNA-based therapeutic or RNA as therapeutic target. Application deadline for proposals is 28 June 2016; announcement of awards is expected by end of December 2016 - mid January 2017. If you are interested in applying to this new Therapeutic RNA Call, please follow the proposal preparation instructions on the AFM-Téléthon website If you have any queries regarding the call or the application process, please contact Jean-François Briand at jfbriand@afm-telethon.fr or +33 (0)1 69 13 22 29
Care-for-Rare Science Award 2016
Endowed with 50.000,00 Euro. The Care-for-Rare Science Award, sponsored by the Werner Reichenberger Foundation, should give young scientists the chance to initiate a basic or clinical research project in the field of rare diseases.

The Care-for-Rare Foundation supports interdisciplinary and international scientific projects with the goal to elucidate the causes of rare diseases and to develop new innovative therapies for affected children. The application is open for single persons or groups of scientists with at least one member being affiliated with a research institution located in Germany. Junior researchers are explicitly encouraged to apply.
The complete application documents have to be submitted electronically by June 30, 2016.
For further information

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

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


Partnersearch, Job Opportunities
Position open at Orphanet France for Phenotypic indexing of rare diseases
Position open at Orphanet France to participate in the indexation of rare diseases with phenotypes of ontology "Human Phenotype Ontology" (international nomenclature of reference), implement the workflow between US14-Orphanet and "Human Phenotype Ontology" and participate in the quality control of data. This is a fixed term position (CDD), open to canditates eligible to work in France. Further details (in French) can be found here

Courses & Educational Initiatives

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrdfoundation.org/www.rrdfoundation.org.

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

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

Course for health care guidelines developers on diagnosis of rare diseases
Date: 6-7 June, 2016
Venue: Modena, Italy

The present course is part of the capacity building activities of the project RARE-Bestpractices. These activities intend to promote guideline quality standards for rare diseases across European Member States and to support the upcoming European Reference Networks and Centres of Expertise in the development of their capacity to produce and use health care guidelines on rare diseases.
For further information

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

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

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

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

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

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

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

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

MSc Programme (Blended) in Inherited Haemoglobin Disorders
This educational Programme is being launched in September 2016. It is a unique Programme, with its faculty including world‐renowned international experts. It is recognized globally and is supported by the European Haematology Association and the International Society of Haematology. You can find more information on the MSc Programme in the following link
Fifth International Chordoma Research Workshop
Date: 14-15 July, 2016
Venue: Boston, United States

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


What's on Where?

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

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

8th International WASOG Conference on Diffuse Perenchymal Lung Diseases
Date: 2-4 June, 2016
Venue: Gdansk, Poland

For further information

39th European Cystic Fibrosis Conference
Date: 8-11 June, 2016
Venue: Basel, Switzerland

The European Cystic Fibrosis Society is an international community of scientific and clinical professionals committed to improving survival and quality of life for people with CF by promoting high quality research, education and care.
For further information

4th Translational Research Meeting on Peripheral Neuropathies
Date: 9 June, 2016
Venue: Paris, France

For further information

21st International Waldenstroms Macroglobulemia Foundation Ed Forum
Date: 10-12 June, 2016
Venue: Rhode Island, United States

The theme this year is Imagine a Cure: Pathways to Progress to highlight the exciting Strategic Research Roadmap Initiative recently begun by the IWMF and the Leukemia & Lymphoma Society. The Ed Forum presents an excellent opportunity to hear about the latest in research and treatments.
For further information

14th National Conference on Hydrocephalus
Date: 16-19 June, 2016
Venue: Minneapolis, United States

The goal of our conference is to provide resources and tools for navigating the medical, educational and social challenges of living with hydrocephalus.
For further information

ML4 Research Conference
Date: 19-21 June, 2016
Venue: Atlanta, United States

This meeting, open to all researchers engaged in basic, clinical and translational science pertaining to MLIV, has proven to be a collaborative and dynamic space for sharing current research about MCOLN1, channel function, disease pathology, translational efforts, clinical research, and more.
For further information

Rett Syndrome Symposium
Date: 22-24 June, 2016
Venue: Illinois, United States

This conference will include sessions of Fundamental Science, Translational and Clinical Research, and Neuro-Habilitation Research that will address the molecular, cellular and systems-level pathophysiology of Rett syndrome, potential treatment strategies and ongoing clinical trials and the Natural History study.
For further information

Advancing Rare Disease Drug Discovery: The Need for Successful Collaborations
Date: 23 June, 2016
Venue: London, United Kingdom

Participants will review examples of successful collaborations and discuss these questions in a 1-day complimentary forum where rare disease researchers will: network with foundations and industry leaders; share best practices; and review case studies of models for successful approaches to collaborative discovery programs.
For further information

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

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

12th European Working Group on Gaucher Disease 2016 meeting
Date: 29 June-2 July, 2016
Venue: Zaragoza, Spain

This conference will be attended by international stakeholders in Gaucher disease and is an excellent opportunity to get information on advances towards better research and treatment.
For further information

9th International Cystinosis Congress
Date: 30 June - 3 July, 2016
Venue: Valencia, Spain

In collaboration with the Excellence in Pediatrics Institute, the Cystinosis Foundation is pleased to bring you a new and exciting conference format in response to your expressed interests.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

9th ISNS International meeting/10th ISNS European Regional meeting
Date: 11-14 September, 2016
Venue: The Hague, the Netherlands

The conference will aid the sharing of neonatal screening experiences for congenital metabolic disorders, its clinical diagnostics and follow-up, and will facilitate learning from other experiences. The programme will consist of plenary lectures, oral presentations and poster sessions and will be attractive for professionals, patient/advocacy groups, policy makers and industrial partners. The programme will include evaluation of performance of neonatal screening systems and strategies for improvement.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ESID European Society for Immunodeficiencies: Biennial meeting
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

International Primary Immunodefiencies Congress
Date: 8-10 November 2016
Venue: Dubai, United Arab Emirates

For further information


Commercial events

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

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

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

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


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

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

Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Disclaimer : This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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