18 July 2016 print
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Brexit: what does it mean for rare disease patients

The United Kingdom (UK) has voted to leave the European Union (EU) and is poised to begin the proceedings to invoke Article 50 of the 2007 Lisbon Treaty, which would set in motion negotiations on how to leave the bloc.

Although little is known at this stage about exactly what the exit of the United Kingdom would entail, many have expressed concern that the collaboration and cooperation which rare disease stakeholders have struggled for and achieved over the years, could be jeopardised,. Rare disease patient organisations have released statements attempting to allay concerns, as well as asking for solidarity in this moment of uncertainty. Genetic Alliance has released a statement expressing disappointment, but also asserted that they “will be a strong and focused presence, speaking truth to power in government, in parliament, in research, health care and in society so the voice of individuals and families is heard in the settlement of the outcomes of this referendum." A letter from the President of the European Association for Haemophilia and Allied Disorders (EAHAD) and the European Haemophilia Consortium (EHC) states that they will "remain committed to adequately representing patients in the EU and UK, improving patients’ lives, and furthering scientific and medical research.”

Patient organisations from countries neighbouring the UK, have also weighed in as it greatly impacts their situation as well. DEBRA Ireland has expressed deep concern over the referendum’s impact on European Reference Networks (ERN), which aim to bring together the best clinical specialists and to improve care for rare diseases. They believe that this decision may mean that the “UK rare disease patients may not now have easy access to clinical expertise in other EU countries and also for Irish patients, for whom UK centres of expertise are often the first port of call.” Other than delayed access for UK patients and possible loss of funding for UK research bodies, they have said that “the implications go far beyond British research groups and will be damaging to the many rare disease research networks that are reliant on valuable UK partners.”

EURORDIS has confirmed that they will continue to actively work with Rare Disease UK, Genetic Alliance and underscore the importance of “mov(ing) forward to analyse the impact and to start a dialogue to deal with the fallout so that people living with a rare disease in the UK do not suffer the consequences of Brexit.” EURORDIS also recognises that whether initiatives such as the ERNs and cross-border healthcare may be affected in the future, especially after 2017 when the “first successful ERNs are due to come to life”, remains unknown. They also indicate the possibility of the European Medicines Agency moving to another European country. The EMA has released a statement acknowledging that they are in unfamiliar territory and expressed openness to move as well. They have also added that the “European Regulatory Network as a whole is a very strong and flexible system that is able to adapt to changes without jeopardising the quality and effectiveness of its work.”

The hardest hit area could be rare disease research in the UK. Although a minority of scientists are sanguine about Brexit, for many the future of international collaborations and the freedom of students and researchers to move across the channel once the United Kingdom ceases to be an EU Member State are key worries. This could affect young European researchers, who are largely funded on ‘soft money’, which will in-turn affect rare disease research. However, most acknowledge that nothing will change in the immediate future for EU funded teams. The RD-Connect team at the University of Newcastle has released a statement expressing that although they feel passionately about the vote, “the outcome of the British EU referendum will not affect (their) accomplishments and it goes without saying that we will continue to work together across borders.” UK researchers attracted 17% (around €570 million) of the EU's Seventh Framework Programme's (2007-2013) entire budget. It is possible that the European funds for the UK, such as funds from Horizon 2020 could be curtailed to some extent, even if it becomes an associate member. Complex negotiations between the EU and UK will ultimately determine the full impact on UK research.

RD-ACTION will of course continue its work to promote the implementation of European recommendations in member states for the benefit of rare diseases patients. UK partners are major and committed collaborators in this project. Orphanet activities will continue in the UK. The work lead by the University of Newcastle contributing to the development and establishment of ERNs, and to the promotion of policies for rare diseases, will also continue.

Since the news of the referendum outcome broke, the furore has calmed down a little. The news cycle has turned. Although Brussels is waiting for the UK to begin formal negotiations, many political factors have complicated the present scenario. Rare disease patients and all other stakeholders will have to wait for negotiations between the EU and the UK to begin to determine the full consequence of the referendum.

EU Policy News

EMA and FDA reinforce collaboration on patient engagement
The European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) have set up a new ‘cluster’ on patient engagement. The cluster will provide a forum to share experiences and best practices on the way the two agencies involve patients in development, evaluation and post-authorisation activities related to medicines. This is especially important for rare diseases who show a high level of engagement in providing real life experiences, expertise as well as contributing to scientific discussion. The increased interaction through the new cluster will allow EMA and FDA to exchange information on how they engage with and involve patients in their work and on priorities and goals to scale up future engagement with patients. The FDA and EMA currently collaborate effectively for making joint applicants for providing orphan designations.
Access the report series

Yann Le Cam appointed to Board of the European Medicines Agency

Yann Le Cam - a champion for the cause of the rare disease patients- has been appointed to the board of the European Medicines Agency. His appointment is a testimony to the perseverance of the rare disease patients and their representatives. Yann is one of the founding members of EURORDIS, and has served as its Chief Executive Officer since 2001. He also has a personal connection with rare diseases as one of his daughters’ lives with cystic fibrosis. As the first patient representative to serve as Vice Chairman of the Committee for Orphan Medicinal Products (COMP) at the European Drug Agency (EMA), he was instrumental in bringing about several initiatives to augment the development of orphan medications.

Among other achievements Yann has also served on the Management Board and Executive Committee of the French Health Technology Assessment agency and on the DIA Advisory Committee Europe, and is nominated to the current European Commission Experts Group on Rare Diseases. He is also the Chair of the Therapies Scientific Committee of the IRDiRC – the International Rare Diseases Research Consortium (www.irdirc.org). In all these positions he brought his vision, expertise and understanding of the patient population to bring about real change for their betterment.

As a Management Board of the European Medicines Agency, Yann le Cam promises to “enhance dialogue with all stakeholders (patient organisations, the European Commission, Members of the European Parliament, industry etc.) with a focus on the product life cycle and particular attention to patient access.”
Visit the EURORDIS website


National & International Policy Developments
Other European news
France unveils its Genomic Medicine Plan 2025

The Genomic Medicine Plan 2025 was presented on 22 June by Professor Yves Levy, president of the National Alliance for Life Sciences and Health (Aviesan) and CEO of the National Institute of Health and Medical Research (INSERM). This proposes an action plan to meet the challenge of genomic medicine in France, following the actions of countries like the US, UK and China. The development of this plan involved more than 150 people for a year, including patients' associations.

Genomic medicine aims to improve diagnosis, including genetic diseases, to refine prognosis and to enable personalised therapeutics, especially in the field of cancer, based on individual data from genomic sequencing techniques. Genomic Medicine is a translational approach combining research and care, being both a genetic discovery lever and therapeutic innovation and openness to personalised medicine and to receive treatments based on its own genetic characteristics.

The plan is organised into 14 measures around three objectives: develop instruments and technical skills; ensure the deployment and device ramp-up in a technical context and secure ethics covering the entire territory; the emergence of a "genomic medicine" industry. The territorial coverage will be provided by the utilisation of 12 sequencing platforms, with a budget of €670 million over 5 years. The large volume of clinical and genetic data collected will be automatically sent to a unique data exchange (CAD), that will process and operate, and will continue the genomic care course.

The integration of genomics in routine care pathway requires security, validation, quality and compliance with ethical rules in each stage, which is what the steps of the plan are dedicated.

Finally, the plan aims to contribute to the rapid emergence of genomic medicine industry capable of continuous technological innovation, industrial development and economic growth in a context of strong international competitiveness. France wants so catch up, but also capitalise on a structure where research and care is already highly articulated.
Read the report

Other International News
Office of Population Health Genomics in Western Australia publishes its annual report

Office of Population Genomics (OPHG) sits at the interface between public health and clinical practice and is vital to optimising the benefits of genomics for the population of Western Australia. They have outlined their achievements in 2015 and future directions in this report. The report describes the WA Rare Diseases Strategic Framework 2015-2018 (the framework) which was developed by OPHG and launched in June 2015. They elucidate the importance of developing a newborn screening programme in Australia. They also describe in detail the Undiagnosed disease programme launched last year in Western Australia as well as the newborn bloodspot screening programme. The report highlights the international collaborations which include National Health Institute of the United States, particularly their Undiagnosed Disease programme.
Access the report

Guidance Documents and Recommendations
Multiple myeloma: recommendations for the treatment
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Blood ; 127(24):2955-62 ; June 2016
Bioinformatics, Registries and Data Management
AGORA - a dutch database for birth defects and childhood cancer
An article published in Birth Defects Research (Part A) describes AGORA - a data and biobank for birth defects and childhood cancer, in the Netherlands which holds data from over 6,860 families. Among these are 3,747 varied birth defects, 905 childhood cancers, and 2,208 controls. The authors describe how the methodology adopted by them to collect data as well as the rationale of collecting in the future. According to the authors this “large AGORA data- and biobank offers great opportunities for investigating genetic and nongenetic risk factors for disorders in children and is open to collaborative initiatives.”
Read the Pubmed abstract

Screening and Testing
2016 BBMRI-LPC Whole Exome Sequencing Call

BBMRI-LPC offers a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.

The program will provide free-of-charge Whole Exome Sequencing and bioinformatics analysis to 10-30 coordinated projects each with 2-3 principal investigators from different countries (indicative 15-50 samples per project), for a total of 500 samples. Each project will focus on a particular disorder and will include at least 3 genetically undiagnosed index cases and additional samples from case relatives in order to facilitate the identification of the causative variant/s. The sequencing and analysis will be carried out at the Centro Nacional de Análisis Genómico and at the Wellcome Trust Sanger Institute.

To apply complete and submit the online form that you will find in here:
The submission deadline is 25/07/2016 (12pm, noon, GMT+1 hour).


Ethical, Legal & Social Issues
A positive case for the utilisation of community health workers to support sickle cell disease patients in the United States
A case for the employment of community health workers to support patients with sickle cell disease (SCD) in the United States, is presented in an article published in American Journal of Preventive Medicine. In the US, community health workers have provided considerable support to navigate the health systems and have been credited for the improvement of health outcomes for some chronic conditions. The authors in this article advocate the usage of strategies to test community health workers for sickle cell disease management. The authors believe that although this approach has not been used so far for SCD, the high rate of patient acceptance is a testimony to the probable success of supporting this rare but socially costly condition. The authors state that current practices to address the problems of SCD patients are inadequate and the utilisation of CHWs could greatly improve short and long-term outcomes and quality of life.
Read the Pubmed abstract

The low quality of life of children with Moyamoya Disease
Authors of an article published in Pediatric Neurology has given an account of the quality of life of patients suffering from Moyamoya Disease (MMD). This is a progressive intracranial arteriopathy with high risk of stroke which is compared to the quality of life of chronically-ill children and children with stroke, by the authors to better understand the impact of this diagnosis. The authors note that “even in the absence of stroke, children with MMD have lower quality of life compared to healthy controls, and similar quality of life to chronically-ill children and those with non-MMD stroke.” The authors state that “children with MMD would benefit from mental health support beyond what a mild physical presentation may indicate.”
Access the article


Orphanet News

The upshot of including postpartum psychosis in Orphanet
A correspondence in The Lancet highlights the fact that postpartum psychosis is included, for the first time, by Orphanet. The authors deem this as an important step towards reducing the stigma, “promoting scientific information, and linking patients and their families with relevant organisations and expert centres.” They also believe that this measure will help optimise research efforts, collaborations and communication between researchers and specialised centres. They state this will also lead to a proper diagnosis of women with postpartum psychosis who “die by suicide or commit infanticide were misdiagnosed and therefore did not receive adequate treatment.
Read the correspondence

List of the rare diseases in Polish now on the Orphanet website

As new scientific knowledge arises, the Orphanet rare diseases inventory is updated through the regular addition/update of diseases via two non-exclusive sources: documented sources and/or expert advice. This list of rare diseases has recently been translated in to Polish and published as an Orphanet Report Series. Even though Orphanet is not available in polish, the publication of this list will prove to be extremely useful for patients and professionals.
Access the report series


New Syndromes

Dominant macrothrombocytopenia and hearing loss caused by a gain-of-function variant in DIAPH1 in two unrelated pedigrees
The authors reported two unrelated pedigrees with a novel disorder characterised by macrothrombocytopenia and sensorineural hearing. The pedigrees segregated with a gain-of-function variant in DIAPH1.
Consult the Pubmed abstract

Blood ; 127(23):2903-14 ; June 2016
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients
Pontocerebellar hypoplasia has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. The authors reported on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and non-progressive pontocerebellar hypoplasia. In addition, the patients showed hair extruding from the lactiferous ducts. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicated an autosomal recessive pattern of inheritance as most likely.
Consult the Pubmed abstract PMID: 27075597 Am J Med Genet A. 2016 Jun;170(6):1391-9

Novel neurodevelopmental disorder with severe speech delay, hypotonia, and facial dysmorphism due to de novo heterozygous
variants in KAT6A in six unrelated individuals The authors reported six unrelated individuals with a common phenotype consisting of neurodevelopmental disorder with severe speech delay, hypotonia, and facial dysmorphism. These patients underwent whole exome sequencing with a trio approach and de novo heterozygous predicted pathogenic novel variants in the KAT6A gene were identified.
Consult the Pubmed abstract PMID: 27075597 Am J Med Genet A. 2016 Jul;170(7):1791-8

Am J Med Genet A ; 170(7):1791-8 ; 2016 Jul

New Genes

PEHO syndrome caused by de novo dominant variants in KIF1A
Consult the Pubmed abstract
To read more about "PEHO syndrome"

Eur J Hum Genet. ; 24(6):949-53 ; June 2016
Nasopalpebral lipoma-coloboma syndrome associated with a de novo frameshift mutation in ZDBF2
Consult the Pubmed abstract
To read more about "Nasopalpebral lipoma-coloboma-telecanthus syndrome"

Am J Med Genet A. ; 170(7):1934-7 ; July 2016
Amyotrophic lateral sclerosis due to heterozygous loss-of-function mutations in NEK1
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Brain ; 139(Pt 5):e28 ; May 2016
Complex hereditary spastic paraplegia linked to ATP13A2, TPP1 and DNMT1 variants
Consult the Pubmed abstract
To read more about "Complex hereditary spastic paraplegia"

Brain ; 139(Pt 7):1904-18 ; July 2016
Blastic plasmacytoid dendritic cell neoplasms caused by monoallelic deletion of NR3C1
Consult the Pubmed abstract
To read more about "CD4+/CD56+ hematodermic neoplasm"

Blood ; 127(24):3040-53 ; June 2016
Acute myeloid leukaemia linked to recurrent ZBTB7A mutations
Consult the Pubmed abstract
Blood ; 127(20):2498-501 ; May 2016
Adams-Oliver syndrome-like phenotype associated with RAC1 mutations
Consult the Pubmed abstract
To read more about "Adams-Oliver syndrome"

Am J Med Genet A. ; 170(5):1245-50 ; May 2016
Moyamoya disease and artery tortuosity: ELN as a candidate gene
Consult the Pubmed abstract
To read more about "Moyamoya disease"

Am J Med Genet A. ; 170(7):1924-7 ; July 2016
1p36 deletion syndrome: NOCL2, DVL1 and MMP23B as possible candidate genes
Consult the Pubmed abstract
To read more about "1p36 deletion syndrome"

Am J Med Genet A. ; 170(7):1889-94 ; July 2016
Early-onset schizophrenia: SEZ6, RYR2, GPR153, GTF2IRD1, TTBK1 and ITGA6 as candidate genes
Consult the Pubmed abstract
To read more about "Early-onset schizophrenia"

Eur J Hum Genet. ; 24(6):944-8 ; June 2016
Waldenström macroglobulinemia: LAPTM5 and HCLS1 as potentially novel contributors for the genetic predisposition
Consult the Pubmed abstract
To read more about "Waldenström macroglobulinemia"

Blood ; 127(21):2598-606 ; May 2016

Research in Action

Clinical Research
Down syndrome: rivastigmine is safe for children and adolescents but may not be effective
Consult the Pubmed abstract
To read more about "Down syndrome"

Am J Med Genet A. ; 170(6):1545-55 ; June 2016
Osteogenesis imperfecta types I, III and IV: pamidronate treatment increases lumbar spine bone mineral density and decreases fracture rate in children
Consult the Pubmed abstract
To read more about "Osteogenesis imperfecta type 1"
To read more about "Osteogenesis imperfecta type 3"
To read more about "Osteogenesis imperfecta type 4"

Bone ; 87:11-8 ; June 2016
Systemic sclerosis: significant decrease in the number of digital ulcers with sildenafil treatment
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Systemic sclerosis"

Ann Rheum Dis. ; 75(6):1009-15 ; June 2016
Micafungin and voriconazole antifungal therapies are as efficient but micafungin is generally better tolerated in febrile neutropenic patients with haematologic disorders
Consult the Pubmed abstract
Eur J Haematol. ; 96(6):602-9 ; June 2016
Multiple myeloma: elotuzumab prolongs progression-free survival with no added clinical toxicity when combined with bortezomib and dexamethasone
Consult the Pubmed abstract
Consult this study on Orphanet

To read more about "Multiple myeloma"

Blood ; 127(23):2833-40 ; June 2016
Advanced multiple myeloma: carfilzomib-based treatment is efficient but may have considerable cardiotoxic effects in some cases
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Eur J Haematol. ; 97(1):25-32 ; July 2016
Paediatric acute lymphoblastic leukaemia: mitigated results with dexamethasone versus prednisone treatment
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"

Blood ; 127(17):2101-12 ; April 2016
Cornelia de Lange syndrome: retrospective analysis on sedation and general anaesthesia
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Am J Med Genet C Semin Med Genet. ; 172(2):222-8 ; June 2016
Eisenmenger syndrome: targeting therapies are associated with better survival
Consult the Pubmed abstract
To read more about "Eisenmenger syndrome"

Eur Heart J. ; 37(18):1449-55 ; May 2016
Immunoglobulin A vasculitis: intravenous immunoglobulins appear to be a good candidate for treatment of severe gastrointestinal involvement
Consult the Pubmed abstract
To read more about "Immunoglobulin A vasculitis"

Arch Pediatr. ; 23(6):584-90 ; June 2016
Refractory uveitis: high and equivalent efficacy of infliximab and adalimumab for the treatment
Consult the Pubmed abstract
To read more about "Behçet disease"
To read more about "Sarcoidosis"
To read more about "Juvenile idiopathic arthritis"

Arthritis Rheumatol. ; 68(6):1522-30 ; June 2016
Glioblastoma: corticosteroids compromise survival
Consult the Pubmed abstract
To read more about "Glioblastoma"

Brain ; 139(Pt 5):1458-71 ; May 2016
Acute myeloid leukaemia: sorafenib might represent a valid treatment
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Eur J Haematol. ; 96(6):629-36 ; June 2016
Myeloproliferative neoplasm: treatment with deferasirox is feasible and effective
Consult the Pubmed abstract
To read more about "Myeloproliferative neoplasm"

Eur J Haematol. ; 96(6):643-9 ; June 2016
Intellectual disability-strabismus syndrome: further delineation of the phenotype
Consult the Pubmed abstract
To read more about "Intellectual disability-strabismus syndrome"

Am J Med Genet A. ; 170(5):1142-7 ; May 2016
Shwachman-Diamond syndrome: phenotype extension
Consult the Pubmed abstract
To read more about "Shwachman-Diamond syndrome"

Am J Med Genet A. ; 170(5):1155-64 ; May 2016
Therapeutic Approaches

X-linked hyper-IgM syndrome: targeted gene editing restores regulated loss of CD40 ligand function in primary human T cells
Consult the Pubmed abstract
To read more about "X-linked hyper-IgM syndrome"

Blood ; 127(21):2513-22 ; May 2016
Fibrodysplasia ossificans progressiva: drug repositioning strategy identifies dipyridamole as a potential therapeutic tool
Consult the Pubmed abstract
To read more about "Fibrodysplasia ossificans progressiva"

Dis Model Mech. ; [Epub ahead of print] ; April 2016
Systemic sclerosis: cell-demanded release of fibrin-bound vascular endothelial growth factor is efficient for treating ischaemic lesions in chickens
Consult the Pubmed abstract
To read more about "Systemic sclerosis"

Ann Rheum Dis. ; 75(7):1399-406 ; July 2016
Nemaline myopathy: intramuscular injection of recombinant adeno-associated viral vectors harboring a myosin transgene restores muscle function in a mouse model
Consult the Pubmed abstract
To read more about "Nemaline myopathy"

Ann Neurol ; [Epub ahead of print] ; 2016 Feb 17
Cornelia de Lange syndrome: fly, mouse and zebrafish models
Consult the Pubmed abstracts
To read more about "Cornelia de Lange syndrome"

Am J Med Genet C Semin Med Genet. ; 172(2):129-37; 138-45 ; June 2016
Acute and chronic graft versus host disease: a review on preclinical models
Consult the Pubmed abstract
To read more about "Acute graft versus host disease"
To read more about "Chronic graft versus host disease"

Blood ; 127(25):3117-26 ; June 2016
Diffuse large B-cell lymphoma: patient-derived xenograft models
Consult the Pubmed abstract
To read more about "Diffuse large B-cell lymphoma"

Blood ; 127(18):2203-13 ; May 2016
Diagnostic Approaches

Juvenile idiopathic arthritis-associated uveitis: interleukin-29/interferon-λ1 as a biomarker
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Arthritis Rheumatol. ; 68(7):1769-79 ; July 2016
Reversible cerebral vasoconstriction syndrome and primary central nervous system vasculitis: diagnostic criteria
Consult the Pubmed abstract
To read more about "Reversible cerebral vasoconstriction syndrome"
To read more about "Primary central nervous system vasculitis"

Ann Neurol. ; 79(6):882-94 ; June 2016
Osteogenesis imperfecta: American study discusses the utility of routine genetic testing in the setting of child abuse
Consult the Pubmed abstract
To read more about "Osteogenesis imperfecta"

Am J Med Genet A. ; 170(7):1858-62 ; July 2016
ATTRV122I amyloidosis: bone scintigraphy enables a non-invasive diagnosis
Consult the Pubmed abstract
To read more about "ATTRV122I amyloidosis"

Circulation ; 133(24):2404-12 ; June 2016
Inherited platelet disorders: review on DNA-based diagnosis
Consult the Pubmed abstract
Blood ; 127(23):2814-23 ; June 2016
Inherited bleeding, thrombotic, and platelet disorders: review on high-throughput sequencing test for diagnosis
Consult the Pubmed abstract
Blood ; 127(23):2791-803 ; June 2016
Silver-Russell and Beckwith-Wiedemann syndromes: review on prenatal molecular testing
Consult the Pubmed abstract
To read more about "Silver-Russell syndrome"
To read more about "Beckwith-Wiedemann syndrome"

Eur J Hum Genet. ; 24(6):784-93 ; June 2016

Patient Management and Therapy
Mitochondrial disorders: review on emerging therapies
Consult the Pubmed abstract
Brain ; 139(Pt 6):1633-48 ; June 2016
AL amyloidosis: review on emerging therapies
Consult the Pubmed abstract
To read more about "AL amyloidosis"

Blood ; 127(19):2275-80 ; May 2016
Graft versus host disease: review on allogeneic stem cell transplantation
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Blood ; 127(24):2963-70 ; June 2016
Haematology: three reviews on gene therapy
Consult the Pubmed abstracts
Blood ; 127(21):2523-4; 2525-35; 2536-45 ; 2016 May 26
Multiple myeloma: review on carfilzomib for the treatment
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Eur J Haematol. ; 96(6):564-77 ; June 2016
Follicular lymphoma: two reviews on therapeutic strategies
Consult the Pubmed abstracts
To read more about "Follicular lymphoma"

Blood ; 127(23):2804-8; 2055-63 ; June 2016
Nodal marginal zone B-cell lymphoma: review on treatment
Consult the Pubmed abstract
To read more about "Nodal marginal zone B-cell lymphoma"

Blood ; 127(17):2064-71 ; April 2016
Indolent B-cell non-Hodgkin lymphoma: review on autologous and allogeneic stem cell transplantation
Consult the Pubmed abstract
To read more about "Indolent B-cell non-Hodgkin lymphoma"

Blood ; 127(17):2093-100 ; April 2016
Cornelia de Lange syndrome: review on management and diagnosis
Consult the Pubmed abstract
To read more about "Cornelia de Lange syndrome"

Am J Med Genet C Semin Med Genet. ; 172(2):237-45 ; June 2016
Acroosteolysis dominant type: a review
Consult the Pubmed abstract
To read more about "Acroosteolysis dominant type"

Curr Osteoporos Rep. ; 14(4):126-31 ; August 2016
IgG4-related submandibular gland disease: a review
Consult the Pubmed abstract
To read more about "IgG4-related submandibular gland disease"

Oral Dis. ; [Epub ahead of print] ; June 2016
Red blood cell disorders due to KLF1 variants: a review
Consult the Pubmed abstract
Blood ; 127(15):1856-62 ; April 2016
Acquired von Willebrand syndrome associated with left ventricular assist device: a review
Consult the Pubmed abstract
To read more about "Acquired von Willebrand syndrome"

Blood ; 127(25):3133-41 ; June 2016
Dilated cardiomyopathy: a review
Consult the Pubmed abstract
To read more about "Dilated cardiomyopathy"

Eur Heart J. ; 37(23):1850-8 ; June 2016
Tropical endomyocardial fibrosis: a review
Consult the Pubmed abstract
To read more about "Tropical endomyocardial fibrosis"

Circulation ; 133(24):2503-15 ; June 2016
Idiopathic inflammatory myopathies: review on diagnosis and classification
Consult the Pubmed abstract
To read more about "Idiopathic inflammatory myopathy"

J Intern Med. ; 280(1):39-51 ; July 2016
Lyme disease: a review
Consult the Pubmed abstract
To read more about "Lyme disease"

Ann Intern Med. ; 164(9):ITC65-ITC80 ; May 2016
Histiocytic sarcoma: review on pathobiology, diagnosis and treatment
Consult the Pubmed abstract
To read more about "Histiocytic sarcoma"

Eur J Haematol. ; 97(1):9-16 ; July 2016
Splenic marginal zone lymphoma: review on genetics and management
Consult the Pubmed abstract
To read more about "Splenic marginal zone lymphoma"

Blood ; 127(17):2072-81 ; April 2016
MALT lymphoma: a review
Consult the Pubmed abstract
To read more about "MALT lymphoma"

Blood ; 127(17):2082-92 ; April 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: MAN1B1-CDG
The European Journal of Human Genetics has published one updated Clinical Utility Gene Card for: Biotinidase deficiency

Four new and six updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. Four new GeneReviews have been published for:
FOXP2-related speech and language disorders
Lateral meningocele syndrome
15q duplication syndrome and related disorders
Six updated GeneReviews have been published for:
Leber hereditary optic neuropathy
Epimerase deficiency galactosemia
Biotinidase deficiency
CLCN7-related osteopetrosis
Genetic atypical haemolytic-uremic syndrome


Orphan Drugs
Open for public consultation: Innovative Medicines Initiative draft report on facilitating the translation of advanced therapies to patients in Europe
In the EU, advanced therapy medicinal products (ATMPs), as per Regulation EC 1394/2007 are classified into four main groups: gene-therapy medicines (transgene, type of vector, genetically modified cells); somatic-cell therapy medicines; tissue-engineered medicines; combined ATMPs; using either autologous cells or allogeneic cells.

Even though research into ATMPs is growing, until now, only five ATMPs have been granted a marketing authorisation in the EU. Last year, the Innovative Medicines Initiative (IMI) hosted a workshop with industrial players and a group of key opinion leaders to discuss how Europe could play a leadership role in this new generation of therapeutics and whether the IMI platform can facilitate the collaboration to put Europe at the forefront of ATMPs development. Discussion and preliminary recommendations are in a report published by IMI.

IMI and EFPIA are looking for input from scientific, regulatory, patient and healthcare systems communities on the key questions mentioned in the draft report. They have thus opened the draft for public consultation. On the basis of input, a second workshop will be organised by IMI in 2016 that will draw conclusions from and conclude the consultation. These conclusions will inform the development of an IMI ATMP portfolio of projects that could be launched from 2017 onwards. Deadline for submitting comments: 25 July 2016
For further information

Cost model for novel autologous cellular therapies
Autologous cell therapy is a novel therapeutic intervention that uses an individual’s cells, which are cultured and expanded outside the body, and reintroduced into the donor. Working on novel cellular therapies, although important, is an expensive venture which is compounded by the fact that it is usually pursued by academic or small and medium sized enterprises. According to the authors of an article published in CytotherapyRead the Pubmed abstract

Timing of gene therapy interventions: the earlier, the better
According to authors of a commentary published in Molecular Therapy the timing and the age of the patient at the time of gene therapy intervention has a considerable impact on its efficacy. The authors believe that the view that gene replacement therapy – where a defective gene is replaced in sufficient numbers with the correct one will effectively treat or cure the disease – is a simplistic one.

According to them, the secondary pathologies that arise because of the genetic defect can cause potentially irreversible damage and this has to be taken into account. The authors have quoted studies which suggest that administration of gene therapy early, before onset of symptoms is highly effective and can halt disease progression at the middle stage but had minimal benefit at later stages. The authors also suggest that age at which the therapy is administered also has a significant impact on its effectiveness. According to the authors these factors has a significant impact on uptake of the therapy, since diagnosis for most patients comes after disease onset and believe that newborn screening could make a difference.
Access the article

Regulatory News

Conditional marketing authorisation given to cell-based advanced therapy to support stem cell transplantation in patients with high-risk blood cancer
The European Medicines Agency (EMA) has recommended granting a conditional marketing authorisation in the European Union (EU) for a new advanced therapy medicinal product (ATMP) called Zalmoxis. It is recommended as an adjunctive, or add on, treatment for adult patients receiving a haploidentical haematopoietic stem cell transplant (HSCT) for various types of blood cancer to aid immune reconstitution and reduce the risk of graft-versus-host disease. Zalmoxis consists of genetically modified T cells from the stem cell donor, to include a ‘suicide gene’ called HSV-TK. Given to transplant patients it helps the body fight off infection, enhance the success of the transplant and support long-lasting anti-cancer effects and also prevents graft-versus-host disease. If the patient develops graft-versus-host disease, after the transplant ganciclovir is given, which kills the T cells that have the suicide gene, so preventing further development of the disease.
For further information

Positive opinions recommending orphan designation at the March, April, May and June 2016 COMP meeting
18 positive opinions recommending orphan designation at the March 2016 COMP meeting

-> The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted eighteen positive opinions issued at the March 2016COMP 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 (Kennedy’s disease)
- 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

14 positive opinions recommending orphan designation at the April 2016 COMP meeting

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

- 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

19 positive opinions recommending orphan designation at the May 2016 COMP meeting

-> The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted nineteen positive opinions issued at the May 2016COMP meeting for the:

- treatment of acromegaly
- treatment of diffuse large B-cell lymphoma
- treatment in haematopoietic stem cell transplantation
- treatment of acute liver failure
- treatment in haematopoietic stem cell transplantation
- treatment of glioma
- treatment of neuromyelitis optica spectrum disorders
- treatment of eosinophilic oesophagitis
- treatment of neonatal sepsis
- treatment of necrotising enterocolitis
- treatment of acute respiratory distress syndrome
- treatment of creatine deficiency syndromes
- treatment of periodic paralysis
- treatment of Crigler-Najjar syndrome
- treatment of fragile X syndrome
- treatment of osteogenesis imperfecta
- treatment of Guillain-Barré syndrome
- treatment of Prader-Willi syndrome
- treatment of hypoparathyroidism

22 positive opinions recommending orphan designation at the June 2016 COMP meeting

-> The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted twenty two positive opinions issued at the June 2016COMP meeting for the:

- treatment of idiopathic pulmonary fibrosis
- treatment of retinitis pigmentosa
- treatment of bullous pemphigoid
- treatment of hyperargininaemia
- treatment of sporadic lymphangioleiomyomatosis
- treatment of soft tissue sarcoma
- treatment of Huntington's disease
- treatment of soft tissue sarcoma
- treatment of extranodal NK/T-cell lymphoma, nasal type
- treatment of post-transplant lymphoproliferative disorder
- treatment of adenovirus infection in immunocompromised patients
- treatment of echinococcosis
- treatment of hepatocellular carcinoma
- treatment of congenital hyperinsulinism
- treatment of pro-opiomelanocortin deficiency
- treatment of carbamoyl-phosphate synthetase-1 deficiency
- treatment of citrullinaemia type 1
- treatment of hyperargininaemia
- treatment of ornithine transcarbamylase deficiency
- treatment of partial deep dermal and full thickness burns
- treatment of McArdle’s disease
- treatment of familial partial lipodystrophy

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



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

Science & SciLifeLab Prize for Young Scientists
The Prize is awarded annually to one young scientist for outstanding life science research for which he/she was awarded a doctoral degree in the previous two years. The topic of the entrant's thesis research must be in one of the following categories: Cell and Molecular Biology, Genomics and Proteomics, Ecology and Environment, Translational Medicine. Eligible entrants must have been awarded their doctoral degree in 2014 or 2015, and the subject of their thesis should match one of the Subject Tracks below. The winners from each category will compete for the grand prize.

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

Call for Proposals (2016) for OI research (Osteogenesis Imperfecta)
The aim of this call is to (co-) fund projects that will generate better treatment of Osteogenesis Imperfecta (OI). Researchers responding to this call can come from any country. A wide range of treatment or research strategies will be considered. No area will be excluded as long as the quality of life of people with OI can be improved in a tangible and sustainable manner. All disciplines that contribute to the well-being of people with OI are invited to join. Creation of alliances and partnerships across national boundaries and medical institutions are explicitly welcomed. Submission deadline: 19th August 2016
For further information

Jerome Lejeune Foundation
If you are a researcher investigating on Down syndrome and other intellectual disability from genetic origin appearing in early childhood, the Scientific Advisory Board of the Jerome Lejeune Foundation invites you to submit your research project aiming at deciphering the pathophysiology of the cognitive deficits of patients, especially those (up to 50% of the total amount of the global grant) with trisomy 21 (Down syndrome) and linked pathologies as well as knowledge of the chromosome 21.
For more information . The deadline for receipt of applications is the 14 August 2016.

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

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


Courses & Educational Initiatives

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

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

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

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

Metabolic Myopathies Course
Date: 3-5 November, 2016
Venue: Paris, France

Target audience and participant profile: Neurologists, neuromuscular specialists, internists, cardiologists, geneticists, pediatricians, biochemists, willing to improve their knowledge in the diagnosis and treatment of metabolic myopathies + differential diagnosis with other inherited or genetic myopathies. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org or visit www.rrd-foundation.org.

Courses offered by Centro Nazionale Malattie Rare
A. 4th International Summer School on Rare Disease and Orphan Drug Registries
Date: 26-28 September, 2016
Venue: Rome, Italy

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

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

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

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

Venue: Nimes, France

For further information

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


What's on Where?

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

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

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

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

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

For further information

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Latest Developments in Osteogenesis Imperfecta
Date: 6-8 October, 2016
Venue: Lisbon, Portugal

This Congress is a joint organisation from the Portuguese OI association and the Spanish OI Foundation and is inserted in a more global project that we called "UNbreakable Alliance". This project aims to stimulate the cooperation between several stakeholders that struggle with the same common objective of making the live of people with OI better. This include, patients organisations, health professionals, industry and families.
For further information

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

For further information

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

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

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

For further information

Commercial events

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

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

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

Orphan Drugs and Rare Diseases
Date: 19-20 October, 2016
Venue: London, United Kingdom

The conference will discuss the latest regulatory developments, explore how to reduce costs and learn from the latest innovations in the orphan drug landscape.
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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