12 November 2015 print
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EMA initiative to the collection of high-quality data on medicines through patient registries

In response to the urgent and necessary need for address the various challenges associated with collecting post-marketing data, the European Medicines Agency (EMA) has announced a strategy to make better use of the existing registries and facilitating the establishment and utility of new registries as a source of high quality post-authorisation data for regulatory decision-making.

EMA and other regulators around the world sometimes ask sponsors to establish a registry post-marketing authorisation to further assess the safety and/or efficacy of individual products. This is especially the case in many orphan drugs. However, many registries lack harmonised products and data structures and are often underutilised or unsustainable. Duplication of efforts and inefficiencies are also characteristics of these registries due to which this initiative by the EMA may improve this situation as it aims to “(make) better use of existing registries and facilitating the establishment and utility of new registries as a source of high quality post-authorisation data for regulatory decision-making” as well as initiating new registries if needed.

The initiative includes two components: a strategy on registries and a pilot phase.

According to a document released by the EMA the strategy will aim to utilise existing patient registries “within the current legal and regulatory framework for medicinal products” and is proposed to start from when an advice or request it made to collect additional data. The five important steps in this process, which is mainly a capacity building exercise separate from the regulatory process, include:
1. “Early dialogue with MAAs/MAHs;
2. Definition of data collection characteristics by or with the committee or working party: objectives, population, outcomes, any hypotheses to be tested; as appropriate, input from different stakeholders may be considered;
3. Identification of existing data sources that could fulfil the objectives, and evaluation of their adequacy by MAAs/MAHs in collaboration with regulatory authorities and data source custodians;
4. Need for data or information that is best addressed through a registry;
5. a. Amendment or addition to existing registry/registries;
b. Definition of core components of a new registry”

In the pilot phase, the EMA will evaluate whether the above the strategy will facilitate the requirements of high quality data collections repositories, through real world examples. It will be coordinated by the EMA in collaboration with the Cross-Committee Task Force on Registries. The pilot phase will last two years and the participation in the pilot phase will be determined on a case by case, driven by the precise objectives of the pilot phase in terms of methodological tools and approach to be tested. The above outlined steps will be applied to a number of diseases and products to test whether this collaborative approach will be successful.
Read more on the EMA website/a>

National & International Policy Developments
Other European news
Health staus of patients with type 1 Gaucher disease in Spain
An article published in Blood, Cells and Diseases describes the clinical characteristics and health status of patients with type 1 Gaucher disease (GD1) in Spain. The study also described patients according to differences in their disease management, such as by treatment and splenectomy status.

GD1 the most common form of Gaucher disease, which is an autosomal recessive disorder caused by deficient activity of the glucocerebrosidase enzyme, required for the degradation of glycosphingolipids, is characterised by the lack of central nervous system involvement. More than 350 mutations have been described in the GBA gene region as the cause of GD.

Data from 108 GD1 patients recruited from 28 hospitals showed that most patients had good “control over hematological and visceral parameters, but there is a need to improve monitoring and treatment of GD-related bone disease.”

According to the authors this is possibly because bone disease in GD1 patients is not always followed up by physicians in Spain. They recommend enhanced monitoring and treatment of GD-related bone disease given its high prevalence.
Access this article on ScienceDirect

PanelApp launched by Genomics England to crowdsource rare disease gene panels
A new tool named PanelApp from Genomics England offers a crowdsourcing resource for sharing rare disease genomics knowledge. This newly launched App is publicly available and allows all users to view gene panels.

Genomics England is the NHS owned company charged with leading and delivery of the 100,000 Genomes Project (100KGP). Rare diseases is one of two main areas of focus for the 100kGP, and its gene panels comprises of lists of genetic variants potentially associated with each different clinical condition. Genomics England’s new PanelApp will allow existing and new evidence for ‘research grade’ (uncertain) gene variants to be collected and assessed. It is also intended to be easy to use and to encourage movement in the clinical research community towards increased and ongoing standardisation of gene panels, something that professionals have themselves worked to develop. The app seeks ratings to identify those genes for which there is strong evidence of association with a disease, sufficient to justify a diagnostic report being returned to clinicians and patients.
Read the Genomics England press release
Access the PanelApp

Other International News
A drug approval case study by FDA Center for Drug Evaluation and Research

The FDA has introduced the CDER Drug Approval Case Study as a “new learning tool designed to advance knowledge, insight and understanding of FDA’s drug regulatory processes.” This case study shows how a small pharmaceutical company reviews the path leading to FDA approval to market a new drug in the United States. This case study is meant to educate students and health professionals interested in drug development (including medical and pharmacy students), pharmaceutical and clinical innovators, small business staff as well as patients and patient advocacy groups. The case study guides the reader through the steps of drug development and opportunities for interacting with FDA, including nonclinical testing, investigational new drug application content and submission, clinical trials and protection of human subjects, new drug application content, FDA inspections of manufacturing and clinical sites as well as post marketing requirements.
Read more

Guidance Documents and Recommendations
Guidance on immunization in persons with defective or deficient splenic function
Consult the Pubmed abstract
Br J Haematol. ; [Epub ahead of print] ; August 2015
Juvenile idiopathic arthritis: points to consider for the use of imaging in the diagnosis and management
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Ann Rheum Dis. ; 74(11):1946-57 ; November 2015
Bioinformatics, Registries and Data Management
A conceptual disease model for adult Pompe disease
An article published in the Orphanet Journal of Rare Diseases presented a conceptual disease model for Pompe disease in adults, integrating subjective and objective health outcomes in one model. The authors believe that in order to estimate the effectiveness of treatments in rare diseases and extrapolate effects into the future, alternative models might be needed as randomised control trials may not always be possible in these cases.

According to the authors “this conceptual model describes the associations between the most important levels of health concepts for Pompe disease in adults, from biological parameters via physiological parameters, symptoms and functional indicators to health perceptions and final health outcomes as measured in terms of health-related quality of life.”

They believe that it provides a useful information for both clinicians and policymakers to support their multi-faceted decision making.
Read the Open Access article


Ethical, Legal & Social Issues
23andMe will resume selling health data
The Food and Drug Administration (FDA) had told the genetic testing company 23andMe to stop presenting health data in 2013. Now, 23andMe has announced that, with FDA approval, it will begin providing customers with health information again, though much less than before. The company provides carrier tests that relates to the risk of passing certain inherited diseases to one’s children, presuming the other parent has a mutation in the same gene and the child inherits both mutated genes. According to 23andMe they have information on 36 diseases, including cystic fibrosis, sickle cell anemia and TaySachs. Many of the customers allow their genetic information to be used for medical studies, and some also provide additional information, such as what diseases they have. Companies like Pfizer and Genentech are paying 23andMe to use the data to search for insights that could be useful in developing drugs.
Read this news in New Scientist
Read this news in the New York Times

Australian Family Physician publishes an issue with a focus on rare diseases
The Australian Family Physician has published an issue with a focus on rare diseases. Here they have published several reports on the existing relationship between the physician and the rare disease patient and family as well as the challenges they face. The reports also provide several avenues that are meant to aid the patient and the physician in an extremly difficult journey from diagnosis to treatment as well as social assistance. Selected articles in this issue are described below.

Managing medically unexplained illness in general practice This article describes the conundrum that a lack of diagnosis can create for both the patient and the physician. According to the authors diagnosis is not just a tool to guide management but an expected part of a medical interaction wherein a lack of diagnosis means a lack of guidelines and evidence-based treatments. The authors describes medically unexplained symptoms as falling into three different categories, which sometimes overlap, and the requirement of different management approaches to tackle these symptoms. These categories include Elusive illness: Where a significant biomedical diagnosis seems to be ‘just around the corner’, Contested illnesses: When every consultation becomes a battleground. Chaotic illnesses: Where problems ‘go way down to the bottomless depths’ and strategies to overcome this.

A powerful team: the family physician advocating for patients with a rare disease
Another article focusses on “the challenges faced by the rare disease community, and the role of the primary care physician to advocate for answers as their patients transition through the healthcare system.” This is an informative article on the various resources that is currently available for rare diseases.

The authors provides information on the various resources for physicians as well as patients on individuals who remain undiagnosed. The authors note the rapid advances that are being made in the field of clinical genetics especially whole genome and exome sequencing. They also provide information on several web based and community resources for family physicians’ care of patients with rare diseases. The authors also point out the importance of National advocacy in Australia and Rare Voices Australia provides a strong, united voice advocating on a state and federal level for a National Rare Disease Strategy.

Rare diseases are a common problem for clinicians
This article notes that approximately 8% of the Australian population live with any one of about 10,000 known rare diseases. It reviews the impact of rare diseases on families and health services, and the role of the general practitioner (GP) and policy response in Australia. GPs are in a unique position they are usually the first point of contact for rare disease patients in search of diagnosis and treatment. Taking from the research conducted by the Australian Paediatric Surveillance Unit, the authors emphasise the significant challenges, including diagnostic delays, lack of available treatment and difficulty in finding the right health service faced by rare disease patients and families, who also feel “isolated, under-supported, and often face economic hardship.” The authors underscore the importance of providing GPs with adequate assistance and be an integral part of initiatives undertaken nationally for rare disease patients, especially to improve diagnosis and management.

Complexities in transitioning a child with a rare disorder
An article published in Expert Opinion on Orphan Drugs provides insights and perspectives on the challenges of moving a child from paediatric to adult medical service providers. The authors utilise a maturation framework to categorize the various challenges a parent or caregiver will have to be cognizant of and learn to manage. These include when is it the ‘right time’ to move a child from paediatric to adult services to what administrative requirements/preparations are required to successfully complete a transition must be considered. The authors identify below the key paediatric and adult medical service providers’ responsibilities:

1) Transition lead -- identification of individual that will be responsible for the creation and execution of transition plan
2) Adult medical provider -- provide guidance and assistance in the identification of a qualified medical provider
3) Medical summary -- creation of comprehensive medical summary document highlighting key elements of the patient’s medical history and needs
4) Emergency plan -- assist in the creation of an emergency plan to be used in the event of a medical emergency during the transition period
5) Legal aspects -- review legal implications during the transition for all of the parties
6) Insurance -- discuss insurance actions required to be taken when transitioning between medical service providers.
The authors also detail a personal case study on the challenges of the family and patient suffering from cystinosis.


New Syndromes

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioural abnormalities
The authors reported a microdeletion of the sub-band 6q22.33 in a family of six members. Main clinical features included mild intellectual disability and behavioural abnormalities as well as microcephaly, heart defect, and cleft lip and palate.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(11):2800-7 ; November 2015
Intellectual disability, muscle weakness and characteristic facies mapped to 3p24.3-p25.3 in three siblings
The authors reported on a sister and two brothers born to healthy Iranian parents with mild intellectual disability, progressive muscle weakness, and characteristic facies including highly arched eyebrows, down-slanting palpebral fissures, prominent nasal bridge, prominent nose, columella extending below alae nasi, narrow mouth, narrow palate, and dental caries, and in one of them an inability to abduct the left eye. Electrophysiological studies showed signs of myopathy, and muscle biopsies demonstrated only non-specific signs. Brain MRIs in two of the sibs showed leukencephalopathy with delayed myelination, frontal and parietal hyperintensities, and hippocampal atrophy in one. A single identical-by-descent bloc encompassing 57 genes located at 3p24.3-p25.3 was found to segregate within the family with this phenotype.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(11):2508-15 ; November 2015
Developmental delay and mild facial dysmorphism in monozygotic twins with a de novo 16q24.3 deletion including the TUBB3 gene
The authors reported two monozygotic twins carrying a de novo deletion of chromosome 16q24.3 including the TUBB3 gene. The patients presented with global developmental delay, mild facial dysmorphism, secondary microcephaly, and mild spastic diplegia. Cerebral magnetic resonance imaging of the patients did not reveal cortical malformations, malformations of the corticospinal tracts, basal ganglia, corpus callosum, or optic nerves.
Consult the Pubmed abstract

Am J Med Genet A. ; 167(11):2731-6 ; November 2015
Microcephaly, intellectual disability, seizures and hearing loss in ten families with mutations in SPATA5

Using whole-exome sequencing, the authors identified rare autosomal-recessive predicted pathogenic variants in SPATA5 in 14 individuals from ten families. The individuals presented with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss and cortical visual impairment.
Consult the Pubmed abstract
Am J Hum Genet. ; 97(3):457-64 ; September 2015
Intellectual disability with severe speech impairment and dysmorphic features caused by de novo mutations in CHAMP1 in five unrelated individuals
The authors identified de novo deleterious mutations in CHAMP1 in five unrelated individuals affected by intellectual disability with severe speech impairment, motor developmental delay, muscular hypotonia, and similar dysmorphic features including short philtrum and a tented upper and everted lower lip.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(3):493-500 ; September 2015
Early infantile encephalopathy, named ‘ITPA encephalopathy’, due to recessive mutations in ITPA in seven patients from four families

Seven patients from four families were identified with a similar MRI pattern characterized by T2 signal abnormalities and diffusion restriction in the posterior limb of the internal capsule, often also optic radiation, brainstem tracts, and cerebellar white matter, in combination with delayed myelination and progressive brain atrophy. Patients presented with early infantile onset encephalopathy characterized by progressive microcephaly, seizures, variable cardiac defects, and early death. In all patients, whole exome sequencing subsequently revealed recessive predicted loss of function mutations in ITPA. The authors called that novel disorder ‘ITPA encephalopathy’.
Consult the Pubmed abstract
Ann Neurol. ; 78(4):649-58 ; October 2015
Complex lethal osteochondrodysplasia associated with genetic defects in TAPT1 in two families
The authors demonstrated that TAPT1 mutations underlied a complex congenital syndrome in two families, showing clinical overlap between lethal skeletal dysplasias and ciliopathies. This syndrome was characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys.
Consult the Pubmed abstract

Am J Hum Genet. ; 97(4):521-34 ; October 2015
Progressive skeletal dysplasia caused by RSPRY1 mutations

The authors described a clinically recognizable autosomal-recessive disorder in four affected siblings from a consanguineous Saudi family, comprising progressive spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. Combined autozygome/exome analysis identified a homozygous frameshift mutation in RSPRY1. Using a gene-centric "matchmaking" system, the authors were able to identify a Peruvian simplex case subject whose phenotype was strikingly similar to the original Saudi family and whose exome sequencing had revealed a likely pathogenic homozygous missense variant in the same gene.
Consult the Pubmed abstract
Am J Hum Genet. ; 97(4):608-15 ; October 2015

New Genes

Deafness, enamel hypoplasia and nail defects caused by hypomorphic mutations in PEX1 and PEX6 in six families
Consult the Pubmed abstract
To read more about "Deafness - enamel hypoplasia - nail defects"

Am J Hum Genet. ; 97(4):535-45 ; October 2015
Adams-Oliver syndrome and isolated aplasia cutis congenita due to heterozygous loss-of-function mutations in DLL4
Consult the Pubmed abstract
To read more about "Adams-Oliver syndrome"
To read more about "Aplasia cutis congenita"

Am J Hum Genet. ; 97(3):475-82 ; September 2015
Acroosteolysis-keloid-like lesions-premature aging syndrome linked to a point mutation in PDGFRB in four unrelated individuals
Consult the Pubmed abstract
To read more about "Acroosteolysis-keloid-like lesions-premature aging syndrome"

Am J Hum Genet. ; 97(3):465-74 ; September 2015
Atypical Rett syndrome associated with mutations in STXBP1 and likely linked to mutations in SCN8A and IQSEC2
Consult the Pubmed abstract
To read more about "Atypical Rett syndrome"

Am J Med Genet A. ; 167A(9):2017-25 ; September 2015
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency in two siblings
Consult the Pubmed abstract
To read more about "Omenn syndrome"

Blood ; 126(14):1658-69 ; October 2015
Primary ciliary dyskinesia caused by loss-of-function GAS8 mutations in three independent families
Consult the Pubmed abstract
To read more about "Primary ciliary dyskinesia"

Am J Hum Genet. ; 97(4):546-54 ; October 2015
Oligodontia due to loss-of-function mutations in LRP6
Consult the Pubmed abstract
To read more about "Oligodontia"

Am J Hum Genet. ; 97(4):621-6 ; October 2015
Dehydrated hereditary stomatocytosis associated with mutations in KCNN4
Consult the Pubmed abstracts
To read more about "Dehydrated hereditary stomatocytosis"

Blood ; 126(11):1273-80; 1281-84 ; September 2015
Coronal craniosynostosis and learning disabilities linked to gain-of-function mutations in ZIC1 in five families
Consult the Pubmed abstract
Am J Hum Genet. ; 97(3):378-88 ; September 2015
Severe arthrogryposis multiplex congenital caused by truncating mutations in MAGEL2
Consult the Pubmed abstract
To read more about "Arthrogryposis multiplex congenita"

Am J Hum Genet. ; 97(4):616-20 ; October 2015
Early-childhood-onset steroid-resistant nephrotic syndrome due to biallelic NUP107 mutations in nine affected individuals from five unrelated families
Consult the Pubmed abstract
To read more about "Familial idiopathic steroid-resistant nephrotic syndrome"

Am J Hum Genet. ; 97(4):555-66 ; October 2015
Hairy cell leukaemia associated with recurrent CDKN1B mutations
Consult the Pubmed abstract
To read more about "Hairy cell leukemia"

Blood ; 126(8):1005-8 ; August 2015
Angioimmunoblastic T-cell lymphoma linked to IDH2 mutations
Consult the Pubmed abstract
To read more about "Angioimmunoblastic T-cell lymphoma"

Blood ; 126(15):1741-52 ; October 2015
Interrupted aortic arch type A, ventricular septal defect, and pyloric stenosis might be linked to a de novo mosaic PTPN12 partial deletion identified in a newborn
Consult the Pubmed abstract
Am J Med Genet A. ; 167(11):2674-83 ; November 2015
Distal monosomy 10q: FGFR2, NSMCE4A, ATE1 and WDR11 as candidate genes
Consult the Pubmed abstract
To read more about "Distal monosomy 10q"

Am J Med Genet A. ; 167(11):2707-13 ; November 2015
Behçet disease: CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 as susceptibility genes
Consult the Pubmed abstract
To read more about "Behçet disease"

Arthritis Rheumatol. ; 67(10):2742-8 ; October 2015

Research in Action

Clinical Research
Sickle cell anaemia: magnesium does not shorten length of stay, reduce opioid use, or improve quality of life in hospitalized children
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Blood ; 126(14):1651-7 ; October 2015
Erdheim-Chester disease: sirolimus and prednisone often induce objective responses or disease stabilisation
Consult the Pubmed abstract
To read more about "Erdheim-Chester disease"

Blood ; 126(10):1163-71 ; September 2015
POEMS syndrome: efficacy and safety of low-dose lenalidomide plus dexamethasone
Consult the Pubmed abstract
To read more about "POEMS syndrome"

Eur J Haematol. ; 95(4):325-30 ; October 2015
Phenylketonuria: very stringent diets in early stages might predispose to later growth retardation
Consult the abstract
To read more about "Phenylketonuria"

Rare Disorders: Diagnosis & Therapy ; 1(2) ; 2015
AL amyloidosis: cyclophosphamide, bortezomib, and dexamethasone improve survival
Consult the Pubmed abstract
To read more about "AL amyloidosis"

Blood ; 126(5):612-5 ; July 2015
Juvenile idiopathic arthritis: most children with contemporary treatments attain inactive disease within 2 years of diagnosis
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Ann Rheum Dis. ; 74(10):1854-60 ; October 2015
Juvenile idiopathic arthritis: abatacept treatment for up to 7 years is associated with consistent safety, sustained efficacy, and quality-of-life benefits
Consult the Pubmed abstract
To read more about "Juvenile idiopathic arthritis"

Arthritis Rheumatol. ; 67(10):2759-70 ; October 2015
Duchenne muscular dystrophy: glucocorticoids treatment after loss of ambulation has a beneficial effect on upper limb function
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Neuromuscul Disord. ; 25(10):749-53 ; October 2015
Spinal muscular atrophy: resistance training improves strength and motor function, and is well tolerated
Consult the Pubmed abstract
Muscle Nerve ; 52(4):559-67 ; October 2015
RASopathies: long-term growth hormone therapy, starting early during childhood, results in a positive height response compared with untreated patients
Consult the Pubmed abstract
Am J Med Genet A. ; 167(11):2786-94 ; November 2015
Malaria: artesunate is a safe and clinically beneficial alternative to quinidine
Consult the Pubmed abstract
To read more about "Malaria"

Ann Intern Med. ; 163(7):498-506 ; October 2015
Langerhans cell histiocytosis: the combination of cladribine and cytarabine is an effective therapy but is associated with high toxicity
Consult the Pubmed abstract
To read more about "Langerhans cell histiocytosis"

Blood ; 126(12):1415-23 ; September 2015
Mastocytosis: long-term efficacy and safety of cladribine treatment
Consult the Pubmed abstract
To read more about "Mastocytosis"

Blood ; 126(8):1009-16 ; August 2015
Multiple myeloma: dovitinib shows no single-agent activity but may stabilize disease in some t(4;14)-positive patients
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Eur J Haematol. ; 95(4):316-24 ; October 2015
Acute lymphoblastic leukaemia: nilotinib plus chemotherapy shows comparable outcome to previous results with imatinib
Consult the Pubmed abstract
To read more about "Acute lymphoblastic leukemia"

Blood ; 126(6):746-56 ; August 2015
Mantle cell lymphoma: long-term durable responses and favorable safety with ibrutinib
Consult the Pubmed abstract
To read more about "Mantle cell lymphoma"

Blood ; 126(6):739-45 ; August 2015
Noonan syndrome: phenotype extension including craniosynostosis
Consult the Pubmed abstract
To read more about "Noonan syndrome"

Am J Med Genet A. ; 167(11):2657-63 ; November 2015
Therapeutic Approaches

Blackfan-Diamond anaemia: RAP-011, sotatercept murine orthologue, improves erythropoiesis in a zebrafish model
Consult the Pubmed abstract
To read more about "Blackfan-Diamond anemia"

Blood ; 126(7):880-90 ; August 2015
Graft versus host disease: myeloid-derived suppressor cells prevent the disease in murine allogeneic bone marrow transplantation model
Consult the Pubmed abstract
To read more about "Graft versus host disease"

Blood ; 126(9):1138-48 ; August 2015
Correction of murine sickle cell disease and thalassemia by prenatal tolerance induction and postnatal non-myeloablative allogeneic bone marrow transplants
Consult the Pubmed abstract
To read more about "Sickle cell anemia"
To read more about "Alpha-thalassemia"
To read more about "Beta-thalassemia"

Blood ; 126(10):1245-54 ; September 2015
Ear-patella-short stature syndrome: novel drosophila model
Consult the Pubmed abstract
To read more about "Ear-patella-short stature syndrome"

Am J Med Genet A. ; 167(11):2533-40 ; November 2015
Non-amyloid monoclonal immunoglobulin deposition disease: new mouse model
Consult the Pubmed abstract
To read more about "Non-amyloid monoclonal immunoglobulin deposition disease"

Blood ; 126(6):757-65 ; August 2015
Myelodysplastic syndrome: review on genetically engineered mouse models
Consult the Pubmed abstract
Blood ; 126(9):1057-68 ; August 2015
Thrombocytosis distinguishes POEMS syndrome from chronic inflammatory demyelinating polyneuropathy
Consult the Pubmed abstract
To read more about "POEMS syndrome"
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Muscle Nerve ; 52(4):658-9 ; October 2015
Electromyography highlights multiple cranial neuropathies that can be clinically silent in infants with malformation syndromes or encephalopathies
Consult the Pubmed abstract
Muscle Nerve ; 52(5):754-8 ; November 2015
Diagnostic Approaches

Von Willebrand disease: review on recent advances in laboratory-aided diagnosis
Consult the Pubmed abstract
To read more about "Von Willebrand disease"

Expert Opinion on Orphan Drugs ; 3(9):975-995 ; September 2015
Mitochondrial disorders: growth differentiation factor 15 as the most useful first-line test for diagnosis
Consult the Pubmed abstract
Ann Neurol. ; 78(5):814-23 ; November 2015

Patient Management and Therapy
Polycythemia vera: review on ruxolitinib for the treatment
Consult the abstract
To read more about "Polycythemia vera"

Expert Opinion on Orphan Drugs ; 3(9):1085-1096 ; September 2015
Juvenile neuronal ceroid lipofuscinosis: review on emerging treatments
Consult the abstract
To read more about "Juvenile neuronal ceroid lipofuscinosis"

Expert Opinion on Orphan Drugs ; 3(9):1031-1045 ; September 2015
Behçet disease: review on challenging treatments
Consult the abstract
To read more about "Behçet disease"

Expert Opinion on Orphan Drugs ; 3(10):1101-1110 ; October 2015
Familial Mediterranean fever: review on current therapeutic options
Consult the abstract
To read more about "Familial Mediterranean fever"

Expert Opinion on Orphan Drugs ; 3(9):1063-1073 ; September 2015
Beta-thalassemia: review on gene therapy
Consult the abstract
To read more about "Beta-thalassemia"

Expert Opinion on Orphan Drugs ; 3(9):1047-1062 ; September 2015
Sickle cell disease and thalassemia: review on cord blood transplantation
Consult the abstract
To read more about "Sickle cell anemia"
To read more about "Alpha-thalassemia"
To read more about "Beta-thalassemia"

Expert Opinion on Orphan Drugs ; 3(10):1125-1136 ; October 2015
Haemophilia: review on gene therapy
Consult the abstract
To read more about "Hemophilia"

Expert Opinion on Orphan Drugs ; 3(9):997-1010 ; September 2015
Aceruloplasminemia: review on therapeutic options
Consult the abstract
To read more about "Aceruloplasminemia"

Expert Opinion on Orphan Drugs ; 3(9):1011-1020 ; September 2015
Genetic skeletal diseases: review on new therapeutic targets
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(10):1137-1154 ; October 2015
Friedreich ataxia: review on gene and cell therapy for managing cardiac complications
Consult the abstract
To read more about "Friedreich ataxia"

Expert Opinion on Orphan Drugs ; 3(10):1183-1196 ; October 2015
Polymyositis and dermatomyositis: review on neuromuscular complications of hematopoietic stem cell transplantation
Consult the Pubmed abstract
To read more about "Polymyositis"
To read more about "Dermatomyositis"

Muscle Nerve ; 52(4):480-7 ; October 2015
Mitochondrial neurogastrointestinal encephalomyopathy: review on therapeutic approaches
Consult the abstract
To read more about "Mitochondrial neurogastrointestinal encephalomyopathy"

Expert Opinion on Orphan Drugs ; 3(10):1167-1182 ; October 2015
Intraocular retinoblastoma: review on treatments
Consult the abstract
To read more about "Retinoblastoma"

Expert Opinion on Orphan Drugs ; 3(10):1155-1166 ; October 2015
Classic mycosis fungoides and Sézary syndrome: review on romidepsin for the treatment
Consult the abstract
To read more about "Classic mycosis fungoides"
To read more about "Sézary syndrome"

Expert Opinion on Orphan Drugs ; 3(10):1231-1239 ; October 2015
Giant cell tumour of bone: review on denosumab for the treatment
Consult the abstract
To read more about "Giant cell tumor of bone"

Expert Opinion on Orphan Drugs ; 3(10):1219-1229 ; October 2015
Acute myeloid leukaemia: review on 5-azacitidine for the treatment
Consult the abstract
To read more about "Acute myeloid leukemia"

Expert Opinion on Orphan Drugs ; 3(10):1197-1207 ; October 2015
Synovial sarcoma: review on chemotherapy
Consult the abstract
To read more about "Synovial sarcoma"

Expert Opinion on Orphan Drugs ; 3(10):1111-1124 ; October 2015
Germ cell tumours: review on therapeutic targets
Consult the abstract
Expert Opinion on Orphan Drugs ; 3(10):1021-1030 ; September 2015
CHARGE syndrome: review on the immunological aspects
Consult the Pubmed abstract
To read more about "CHARGE syndrome"

Eur J Hum Genet. ; 23(11):1451-9 ; October 2015
Wolf-Hirschhorn syndrome: a review
Consult the Pubmed abstract
To read more about "Wolf-Hirschhorn syndrome"

Am J Med Genet C Semin Med Genet. ; 169(3):216-23 ; September 2015
Jacobsen syndrome: a review
Consult the Pubmed abstract
To read more about "Jacobsen syndrome"

Am J Med Genet C Semin Med Genet. ; 169(3):239-50 ; September 2015
5p deletions: a review
Consult the Pubmed abstract
Am J Med Genet C Semin Med Genet. ; 169(3):224-38 ; September 2015
18p deletions: a review
Consult the Pubmed abstract
Am J Med Genet C Semin Med Genet. ; 169(3):251-64 ; September 2015
18q deletions: a review
Consult the Pubmed abstract
Am J Med Genet C Semin Med Genet. ; 169(3):265-80 ; September 2015
Special issue of ‘Dermatologic Clinics’ on cutaneous lymphoma
Consult the special issue
Dermatologic Clinics ; 33(4):643-850 ; October 2015
Four new and three 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 four new Clinical Utility Gene Cards for:
Cornelia de Lange syndrome
ALG1 defective congenital disorder of glycosylation
Arterial tortuosity syndrome
Fibrodysplasia ossificans progressive

The European Journal of Human Genetics has published three updated Clinical Utility Gene Cards for:
CHARGE syndrome
Nemaline myopathy
Proximal spinal muscular atrophy

One new and four 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:
Nicolaides-Baraitser syndrome

Four updated GeneReviews have been published for:
Branchiootorenal spectrum disorders
Charcot-Marie-Tooth neuropathy type 4C
Episodic ataxia type 2
Holt-Oram syndrome


Orphan Drugs
Therapeutic avenues for Duchenne muscular dystrophy
An article published in Orphan Drugs: Research and Reviews has overviewed therapeutic approaches to prolong independent ambulation in DMD patients aged 3–4 years. The authors admit that while no single approach provides a cure for patients with DMD, all approaches have the potential to limit the disease. The authors provides information on the categories of drugs that are in use, or in development, which act on different pathogenetic mechanisms in DMD. The efficacy of steroid drugs in various doses and regimens has been well observed thus the article describes the usage of corticosteroids, oxandrolone, givinostat, gentamicin. They also describe cardioprotective drugs such as eplerenone and sildenafil. The authors describe the notable advent of gene therapies such as ataluren, drisapersen, eteplirsen and an honorable mention of the dietary approaches.
Download the article

Regulatory News
Factor X concentrate to treat patients with rare hereditary bleeding disorders approved by the FDA

The United States Food and Drug Administration (US FDA) today approved Coagadex, Coagulation Factor X (Human), for hereditary Factor X deficiency. Factor X deficiency is an inherited disorder, affecting men and women equally, where the blood does not clot as it should. The availability of a purified Factor X concentrate increases treatment options for patients with this rare bleeding disorder. The safety and efficacy of Coagadex was evaluated in a multicenter, nonrandomized study involving 16 participants for treatment of spontaneous, traumatic and heavy menstrual bleeding episodes. Coagadex was also evaluated in five participants with mild to severe Factor X deficiency who were undergoing surgery. Coagadex was demonstrated to be effective in controlling bleeding episodes in participants with moderate to severe hereditary Factor X deficiency.
Read the FDA press release

Analysis of the drugs for rare diseases in Ontario, Canada
In Ontario, Canada, the Ontario Public Drug Programs (OPDP) within the Ontario Ministry of Health & Long-term Care oversees provincial drug expenditures who are advised by an independent expert panel that evaluates applications from manufacturers for public reimbursement of their drugs under six different programs. The expert committee bases their decisions on the clinical and cost- effectiveness assessments of each individual drug product. However, orphan drugs such as idursulfase for Hunter syndrome was refused funding by this committee due to the lack of cost-effectiveness evidence. The Drugs for Rare Diseases Working Group (DRDWG) was established in response to this. The authors of an article published in Journal of General Internal Medicine provides an assessment of the eight drugs evaluated by DRDWG.

For five drugs, full evaluations were completed, specific funding recommendations were made by the DRDWG, and funding was approved after risk-sharing agreements with the manufacturers were negotiated. The article describes the proceedings of this working group and the initial experience using this framework to develop funding recommendations for drug applications, and to examine the subsequent effect on drug funding decisions and costs. For two drugs, the disease indications were determined to be ineligible for consideration. For one drug, there was insufficient natural history data for the disease to provide a basis for recommendation. For the five drugs fully evaluated, 32 patients met the predefined eligibility criteria for funding, and five were denied based on predefined exclusion criteria.
Read the Open Access article

Non-innovative drugs driving the expedited development and review in the United States
An article published in The BMJ evaluated the use of special expedited development and review pathways at the US Food and Drug Administration over the past two decades. The FDA approved 774 drugs during this period, with one third representing first in class (innovative) drugs wherein the authors reported a difference in trend between the ones that were first in class and those that were not. They also observed a significant increase in the number of expedited review and approval programs over the years, most of which were not first in class. Thus from the analysis the authors conclude that “the increased use of the FDA’s expedited development and review programs is being driven by non-first in class drugs, which are less likely to be innovative or clinically transformative therapeutics.”
Updates to the list of designated orphan drugs: Australian Therapeutic Goods Administration
The Therapeutic Goods Administration in Australia has added 2 more drugs to the list of designated orphan drugs. These are:

1. Methoxsalen (UVADEX): Produced by Terumo BCT Australia Pty Ltd. This drug was given marketing authorisation on 01/10/15 for the treatment of Graft-versus-host disease (GVHD) following allogeneic HSC transplantation.
2. Equine Antithymocyte Immunoglobulin (ATGAM): Produced by Pfizer Australia Pty Ltd. This drug was given marketing authorisation on 08/10/15 for the treatment of aplastic anaemia.
Read the PubMed abstract

Political and Scientific News
A comprehensive review of access to orphan drugs in 35 countries
A comprehensive review of access to orphan drugs in 35 countries has been published in PLOS one. The article identifies six broad categories of regulation and policy instruments in these countries that aim to increase access to orphan drugs such as national orphan drug policies, orphan drug designation, marketing authorization, incentives, marketing exclusivity, and pricing and reimbursement.

The authors included 21 countries from the European Union 2 countries from North America, 3 from Asia and Australia. The authors note that 27 out of the 35 countries has an orphan drug legislation –common among EU countries – but only 18 countries (mostly EU) had established a national plan for rare diseases and orphan drugs. The countries in this list without orphan drug legislation include Canada, Israel, Macedonia, Serbia, Switzerland, Turkey as well as China and India–two large countries with a large rare disease patient population–do not have in place orphan drug legislation and/or a national rare disease plan.

The authors found also differences in pricing and reimbursement policies and budgetary considerations across countries may result in inequities in access to orphan drugs. While many EU countries, Japan and Canada follow fixed pricing of drugs, German and United States follow free pricing allowing manufacturers to sets prices at their discretion. Only 9 of 35 countries were found to have no financial or non-financial incentive of any kind for orphan medicines.

Finally some kind of reimbursement is provided by all the governments in this list, except for China and India –with possibly the largest population of rare diseases- where treatment has to be mostly self-funded or through NGOs.
Read the Open Access article



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

BMBF Funding initiative: innovative stem cell technologies for personalized medicine
The German Federal Ministry for Education and Research (BMBF) has announced a new funding initiative for the development and use of innovative stem cell technologies. The initiative aims at funding interdisciplinary research collaborations which are geared towards unlocking the full potential of novel reprogramming technologies and iPS cells for practical use. For this, a pooling of expertise from applied basic and clinical research is needed, for example of research groups from the life sciences, medicine, pharmacology and relevant technical disciplines. The funding can be applied for in two modules: "therapy" and "model & test systems". Deadline for applications is 30 November 2015.
More information (in German)

8th Call for SMA research proposals
This Call is open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or elucidating the basic pathophysiological processes of the disease. SMA‐Europe aims to help the international scientific and medical community in its search for therapies for SMA. Preferences will be given to projects with the greatest potential to overcome barriers to translate science into effective treatments.
Two types of research grants will be awarded for up to two years:
1. Operating Grants
2. Postdoctoral Fellowship
Application deadline: 9 December 2015
For further information

Call for Myotonic Dystrophy research
AFM-Téléthon is pleased to announce a new international Call for Myotonic Dystrophy research projects aimed at developing innovative therapeutic approaches in this field. Application deadline is December 18, 2015. Please follow the proposal instructions on the AFM-Téléthon website via this link

News from the Patients' Associations
Proceedings From the Turner Resource Network Symposium
The proceeding of the inaugural “Turner Resource Network (TRN) Symposium” has been published in Americal Journal of Medical Genetics which brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The symposium concluded with the consensus that two rationales justify the creation of a TRN:

1. Inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome;
2. Investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.
Read the Open Access article


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@rrd-foundation.org/www.rrd-foundation.org.
Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

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

EMA workshop on: demonstrating significant benefit of orphan medicines
Date: 7 December, 2015
Venue: London, United Kingdom

The European Medicines Agency (EMA) is organising a workshop on 7 December 2015 to discuss the approach that should be followed by medicine developers to demonstrate the significant benefit of an orphan medicine over existing treatments. Demonstrating a significant benefit is one of the criteria medicines that treat rare diseases must fulfil to benefit from 10 years of market exclusivity once they have been authorised.

The workshop will bring together medicine developers, regulators, healthcare professionals, academia, patients, health technology assessment bodies and healthcare payers who need to register by 31 October 2015 if they wish to participate. The workshop will also be broadcast live.
For further information

European Cytogenetesists Association
Date: February/March of each year
Venue: Nimes, France

This course is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

EMA workshop on pre-licencing activities
Date: 9 March, 2016
Venue: Barcelona, Spain

In collaboration with EMA, E-Rare will organize a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 16:00 on the 9 of March 2015 in Barcelona, before the official start of the RE(ACT) meeting. It will be open to all researchers and interested stakeholders.

The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer@agencerecherche.fr for further instructions.

2nd International Course: Rare Best practices
Date: 3-4 December, 2015
Venue: Rome, Italy

The course intends to promote guideline quality standards and RAREBestpractices’ outputs 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.

The course will provide participants with the opportunity to acquire skills necessary to appraise health care guidelines for rare diseases by using AGREE II, the international tool to assess the quality and reporting of health care guidelines, also actively involving them in the appraisal work foreseen in the project.
For Further information
Visit the Rare Best Practices website

Expert Patient Advocates & 21st Century Therapies Forum
Date: 19-20 November, 2015
Venue: Ontario, Canada

This is a two day Expert Patient Training in Health Technology Assessment forum. The purpose of the Canadian Expert Patients in Health Technology is to provide the knowledge, skills, and practical tools to empower patients to take an informed and effective role in assuring that there is sustained, equitable, and affordable access to t h e most appropriate health technologies for all Canadians, and that patients are central to defining, monitoring and evaluating appropriate use for individuals and the patient population collectively.
For further information


What's on Where?

16th International Conference on Human Genome Variation and Complex Genome Analysis
Date: 11-13 November, 2015
Venue: California, United States

HGV2015 will bring together approximately 180 delegates (selected on the basis of their abstract submission) in a workshop-style atmosphere, with 25 internationally recognized speakers.
For further information

Statistical analysis of massive genomic data
Date: 19-20 November, 2015
Venue: Evry, France

This two-day cross-disciplinary conference will bring together biologists, geneticists, clinicians, bioinformaticians and statisticians in order to discuss emerging challenges raised by the analysis of high-throughput genomic data, and present dedicated innovative approaches.
For further information

The Rett Syndrome Journey: Pathways to Follow
Date: 19-21 November, 2015
Venue: Victoria, Australia

‘Pathways to Follow’ on the journey with Rett syndrome will be explored in such areas as communication, health, therapies, education, equipment, caring for the carer, Commonwealth government, trusts, siblings, adulthood, family and equipment, to name just a few.
For further information

6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals
Date: 21-22 November, 2015
Venue: Amsterdam, The Netherlands

The 6th European Symposium on Rare Anaemias is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias. This year, transversal topics centered on common medical problems of patients with sickle cell, thalassaemia and other forms of haemolytic anaemia will be one of the key points of the symposium.
For further information

Erasmus+ Infoday Knowledge Alliances and Sector Skills Alliances
Date: 23 November, 2015
Venue: Brussels, Belgium

The European Commission and the Education, Audio-visual and Culture Executive Agency are organising an Infoday in Brussels to explain the funding opportunities available under "Knowledge Alliances" and "Sector Skills Alliances". Some of the key goals and activities of European Reference Networks (training, transfer of knowledge and exchange of expertise) are strongly in line with this approach. A cross fertilisation between the future European Reference Networks and the setting up of 'Knowledge Alliances' would help to the implementation and sustainability of both initiatives.
For further information

radiz Symposium 2015 at Kinderspital Zürich
Date: 26 November, 2015
Venue: Zurich, Switzerland

The symposium will give you an insight into the findings of the past three years our research. We will show you how the research on rare diseases can lead to a better understanding of common diseases and why research is important from the patient's perspective. The lectures will be held partly in German and partly in English.
For further information

International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

Clinical trials in small populations : Methodological challenges and solutions
Date: 30th November - 1 December 2015
Venue: London, UK

The movement towards genetically tailored treatment regimens will further increase the number of small populations for whom new treatments are sought. This two day meeting will bring together researchers and practitioners to discuss state of the art methods for trials in small populations.
For further information

SCIENTIFIC MEETING 2015: Mast Cells and Urticaria
Date: 26 November, 2015
Venue: Paris, France

This scientific meeting organised by Fondation René Tourainwill focus for Phd students, resident doctors and specialists on mast cells and urticarial.
For further information

CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference
Date: 20-21 January, 2016
Venue: Brussels, Belgium

This is the fourth meeting of an ongoing series of biennial conferences aiming at promoting progress in the field of paediatric oncology drug development through input from all concerned stakeholders: regulatory bodies, academia, the pharmaceutical industry, parents and policymakers.
For further information

BPSU Rare Disease Conference 2016
Date: 23 February, 2016
Venue: Birmingham, United Kingdom

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.
For further information

Clinical Innovation & Outsourcing
Date: 9-10 March, 2016
Venue: London, UK

Clinical Outsourcing & Partnering World is the largest industry event focusing on the strategic and operational considerations in clinical outsourcing. It is a place where serious business contacts are made. Attended by senior decision makers, it's a platform which facilitates meetings between your sales force and prospects and it's a cost effective sponsorship package with year round advantage.
For further information

The RE(ACT) Congress
Date: 9-10 March, 2016
Venue: Barcelona, Spain

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2016
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
For further information

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

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

5th International Conference on Myelodysplastic Syndromes
Date: 14-16 April, 2016
Venue: Estoril, Portugal

For further information
8th Alstrom Syndrome International Conference
Date: 12-16 May, 2016
Venue: Massachusetts, USA

This international conference will have a scientific symposium for clinicians and researchers as well as sessions for parents, caretakers and patient organisations.
For further information

17th EMSOS Nurse and Allied professional Group Meeting
Date: 12-16 May, 2016
Venue: Massachusetts, USA

The meeting will be focussing on Ewing sarcoma, margins, pelvic tumours, targeted therapy; open sessions will offer the opportunity to report and discuss the latest results in all fields.
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 BCell 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

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

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


Media, Press & Publications
Genetic counseling research – a practical guide
This book is an essential guide to researchers on genetic counselling as there is not much known on this topic. It provides comprehensive information on how to come up with a research question along with ideas and worksheets to come up with the same. They provide help on picking the correct keywords and search alerts as well as how to find articles for the literature review described in the next chapter.

It provides a guide for the literature review and critiquing qualitative and quantitative research. The authors provide the steps on how to do different types of studies and analyse their data and the final help on preparing manuscript/s for publishing. The authors also give instructions not only on how to do so but also on how the researcher can prepare for both supervision and peer review and how to reply.
Buy the book


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 LeCam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann Valentina Bottarelli, Victoria Hedley, Yann LeCam, 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), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Disclaimer : This presentation is part of the project / joint action N° 677024 / RD-ACTION' which has received funding from the European Union's Health Programme (2014-2020).

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