24 October 2012 print
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Editorial
 
Country editions of the 2012 EUCERD Report on the State of the Art of Rare Disease Activities in Europe break down data into national reports
 


For the first time, the Scientific Secretariat of the EUCERD has produced individual reports for each European country containing an extraction of the data published in the 2012 EUCERD Report on the State of the Art of Rare Disease Activities in Europe related to activities in that specific country. These country editions of the report provide both an overview of national activities up to the end of 2011, as well as a specific focus on the latest activities and developments in 2011. The reports are intended for use and dissemination at the national level, as an up-to-date source of information and support tool for stakeholders wishing to raise awareness of the field of rare diseases. These reports are now available on the EUCERD website in the pages dedicated to other resources at the national level.
Learn more

 


 
Spotlight on...
 
IRDiRC is moving ahead!
 

The International Rare Diseases Research Consortium (IRDiRC) had the third meeting of its Executive Committee on the 25th and 26th of September in the Parisian suburb of Evry, France, a hub for rare disease research. IRDiRC was launched in April 2011 to foster international collaboration in rare diseases research, at the initiative of the European Commission and the National Institutes of Health in the USA. The IRDiRC teams up researchers and organisations investing in rare disease research in order to achieve two main objectives: to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020. The Consortium brings together funding bodies and organisations which should invest a minimum of USD$10 million over 5 years in research projects/programmes contributing towards the IRDiRC objectives. IRDiRC has already established three scientific committees to help identify points for action. The Consortium will be, from now on, supported by a Scientific Secretariat, thanks to a grant from the European Commission’s DG Research (Support Action n°2012-305207). The Secretariat is located at the Rare Disease Platform in Paris, in the same structure housing the Secretariat of the European Union Committee of Experts on Rare Diseases (EUCERD), pan-European rare disease and orphan drug information portal Orphanet, and the French Rare Disease Foundation. The contract for the IRDiRC has been assigned to two partners: the INSERM (the French National Institute for Health and Medical Research) and the Rare Disease Foundation. The project leader is Ségolène Aymé for the INSERM and Nicolas Lévy for the Foundation. With this new resource, it is expected that the IRDiRC will have the means of achieving its ambitions. OrphaNews Europe will report regularly on the activities of this consortium.
Learn more about the IRDiRC

 


 
EU Policy News
 
The European Commission proposes a revision of the current legislation for medical devices and in vitro diagnostic medical devices
 
The European Commission has issued a Communication and proposed two Regulations designed to revise current European Union legislation on medical devices and in vitro diagnostic medical devices. The proposed Regulations are in response to the Conclusions of the Council adopted on 6 June 2011 on innovation in the medical device sector as well as the European Parliament Resolution (on defective silicone breast implants) adopted on 14 June 2012. The proposed Regulations seek to adapt current legislation “to the needs of tomorrow” by creating a “suitable, robust, transparent and sustainable regulatory framework” that will serve to encourage the development of innovative medical devices and in vitro diagnostic medical devices that are safe, and effective. The European Parliament and Council need to adopt the Regulations in order for them to become law. There are a number of rare diseases that include medical devices as part of their clinical management, particularly in paediatric populations.
Learn more

 
European Directory of Health Apps includes several applications relevant to rare diseases
 
The first edition of the European Directory of Health Apps was unveiled on 3 October at the European Health Forum Gastein 2012. The Directory contains information on some 200 health-related smartphone applications that assist patients with the management of their medical conditions – including several rare diseases. Published by UK-based research, publishing and consultancy group, PatientView, with a foreword from Robert Madelin, European Commission Director General for Communications Networks, Content and Technology (DG Connect), the Health Apps selected for the Directory have all been recommended by patient groups and empowered consumers. There is one App for rare diseases in general: ODDT, a crowdsourced content aggregator that collates treatment research data, primarily for scientists. There are also Apps for specific rare diseases, including haemophilia and Huntington disease, an App on Cross-Border Healthcare, and several Apps for communication disability, deafness, visual impairment, physical disability and other conditions frequently associated with rare conditions. The Directory provides a description for each App, including technical details, available languages, and reviews from related patient/consumer groups. The Directory cross-indexes Apps by name, specialisation, and language.
Learn more

 
DG SANCO
 
Orphanet chosen as an example of successful EU-funded projects
 

One look at the Executive Agency for Health and Consumers projects database, which includes information on over 500 projects and operating grants funded through calls for proposals between 2003 to 2011, under the previous EU Public Health Programme and the current EU Health Programme, and it is evident that the EU is committed to encouraging initiatives that seek to improve health and wellness. Now, the European Commission has issued a booklet showcasing 33 selected projects that reflect the overall success of the EU Health Programmes. Orphanet is amongst the projects selected. Orphanet, the pan-European rare disease and orphan drug information portal, with partners in 36 countries, provides comprehensive information on rare diseases and related services in six European languages for both professionals and the public. In 2011 the Orphanet Europe Joint Action launched as an instrument that combines EC funding with that of participating EU countries, as well as Switzerland. The booklet notes that “Since its modest beginnings in 1997 in France, Orphanet has grown into the number one worldwide online source of information on rare diseases. … The action has pooled scarce resources that are currently fragmented across individual EU countries. It enables patients and professionals to share expertise and information across borders.” Other positive outcomes noted include the measures to improve recognition of rare diseases and their visibility in health systems, as well as efforts to foster research.
Consult the report Health for the EU in 33 Success Stories

 


 
National & International Policy Developments
 
A framework for orphan medicinal products under development in Canada
 
Federal governmental agency Health Canada has announced plans to develop a framework for orphan medicinal products that will include the designation, authorisation and monitoring of such products and will foster innovation and research in Canada. The proposed framework, which is based on international collaboration and information sharing, is in the final stages of development and will be available shortly for public consultation. Feedback gathered from this process will be incorporated into the final proposal. In a press release, BIOTECanada, the country’s national industry association representing biotechnology companies observed that with the ”… creation of a regulatory pathway for rare disease medicines, the Government will be providing patients with greater access to innovative treatments addressing their unique medical needs”.
Learn more

In related news, a recent article appearing in Value in Health presents an evidence-based policy framework, developed at the request and with the support of the Ontario Public Drug Programs of the Ministry of Health and Long-term Care in the province of Ontario, Canada, that attempts to address the challenges of funding drugs for rare diseases. The Canadian authors call for funding decisions that are "...consistent, fair, and transparent ...". (Learn more)

 
In England, a new report recommends the specific specialised services for rare conditions to be nationally commissioned
 
As was reported in the 21 September 2012 issue of OrphaNews Europe, Health Ministers in England recently announced that from April 2013 the National Institute for Health and Clinical Excellence (NICE) will take on the role of appraising drugs for ultra-rare conditions, defined as those affecting fewer than 500 patients in England (equating to a prevalence of 1 in 100 000 or fewer). Now, the Department of Health has issued a report specifying which specialised services for rare diseases should be commissioned at the national level.
Consult the report

 
Other European news
 
New report considers the challenges of personalised medicine
 

EuropaBio is the European Association for Bioindustries, representing biotechnology in the European Union and providing a voice for the biotech industry. A new report from EuropaBio considers the status quo and challenges in the field of personalised medicine. Personalised medicine refers to the practice of providing tailored treatments to the specific needs of patients by employing new and emerging biotechnology. Personalised medicine is of specific interest to the rare disease community. Indeed, rare disease research and drug development is considered instructive for the domain of personalised medicine. On the other hand, some stakeholders forewarn that the growing trend towards targeted therapies and personalised medicine could shake up the orphan drug incentives available via Regulation (EC) No 141/2000 (the Orphan Drug Regulation) by segmenting patient populations, producing subgroups that meet the current criteria for orphan designation status, though actually being sub-indications of common diseases. The EuropaBio report considers the state-of-the-art in the field and the significant changes the new technology is bringing to the areas of science, research, drug development, diagnostics, and health reimbursement schemes.
Consult the report

 
University of Edinburgh awarded £60 million for genetic disease research
 
The Medical Research Council has awarded the University of Edinburgh’s MRC Human Genetics Unit and the MRC Institute of Genetics and Molecular Medicine £60 million (€74.2 million) in funding over a five-year period to study illnesses and inherited disorders, including cystic fibrosis, retinitis pigmentosa, anophthalmia, and other rare conditions.
Learn more

 
A proposition for a new evaluation mechanism to assist European countries in orphan drug pricing and reimbursement decisions
 
A highly-accessed article recently appearing in the Orphanet Journal of Rare Diseases describes a proposition for a new tool that would help the European Union Member States effectively evaluate orphan medicinal products at the time of pricing and reimbursement decision-making. This new tool would consist of evaluation criteria, including: rarity; level of research undertaken to receive marketing authorisation as an orphan; level of uncertainty; manufacturing complexity; follow-up measures; disease severity; available alternatives as opposed to unmet medical need; level of impact on condition / disease modification; and use in unique indication (or not). The authors contend that an assessment system based on these criteria could serve the Member States in the evaluation of orphan drug products by allowing individual countries to determine the value of each criterion based on a number of factors (societal preferences, available resources, the existing health system, et cetera).
Consult the open-access article

 
Ciberer’s 2011 annual report reflects ongoing progress despite budget restrictions
 

The Centre for Biomedical Network Research on Rare Diseases (Ciberer) is a Spanish public consortium whose mission is to promote, execute and transfer rare disease research. Results of the 2011 research activities, organised into seven programmes (Genetic Medicine, Inherited Metabolic Medicine, Mitochondrial Medicine, Paediatric and Developmental Medicine, Neurosensorial Pathology, Endocrine Medicine and Inherited Cancer and Related Syndromes) are now available in the 2011 Scientific Report, which is written in Spanish with an English-language translation adjacent. The report describes and updates the activity of each of the research groups that comprise the Centre, including their research lines, training and dissemination activities, scientific publications, ongoing projects, clinical trials and clinical guidelines. In 2011 a reorganisation based on the modifications of the Centre’s statutes, greater knowledge of the groups’ potentials and the definition of new strategic objectives was undertaken. The structure of Scientific Areas was replaced by the organisation of groups in Research Programmes. The 2011 Action Plan defined certain instrumental measures with a scientific, technical, translational and training slant. A principle network scientific endeavour in 2011 was the start of the Programme for “Genes in undiagnosed Rare Diseases”, a major project for applying exome sequencing to many rare diseases in order to discover new genes and variants involved in this kind of pathologies. The report also details actions in the area of translational research, technology transfer, training, outreach, scientific publication, and public awareness.
Consult the 2011 Scientific Report (in Spanish and English)

 
Other International News
 
South Africa: an overview of genetic services and testing practices
 
A Country Report appearing in the Journal of Community Genetics gives an overview of the genetics services and testing available in South Africa. Health resources are diverted in the country by the HIV/AIDS epidemic but there are several genetics services available, mostly in academic settings. The report notes that patients from neighbouring countries in Southern and Central Africa also make use of existing services.
Consult the PubMed abstract

 
The legacy of a rare disease … St Jude Children’s Research Hospital helps children chronicle their individual journey
 
The St Jude Children’s Research Hospital, in Tennessee (USA) has come up with an inventive method to help young cancer patients chronicle the often arduous journey of their illness. The Legacy Bead program, launched in 2009, offers patients tangible mementoes, in the form of uniquely coloured and shaped glass beads, each one symbolising a different step of the disease process: a square, orange one for physical therapy; a green, cone-shaped bead for a CT scan; silver for a final chemotherapy session; gold for remission. Children are given one of these 54 different coloured and shaped beads to mark each milestone they pass in the course of their disease. All of the paediatric cancers are rare. The Legacy Bead program is one of several innovative ways that St Jude is helping children understand and talk about their illness and the treatment process. There are also scrapbook, photo, journaling, and art projects on hand – all geared toward helping children and their families express what they are experiencing. For some families, the strings of beads serve as a souvenir of a child who lost their battle with cancer. St Jude Children’s Research Hospital hopes that other hospitals will adopt its Legacy Bead program as a means of helping young patients make sense of the course of their illness and tell their stories.
Learn more

 
Guidance Documents and Recommendations
 
Hereditary angioedema: a consensus on therapeutic strategies
 
Consult the PubMed abstract
 
To read more about "Hereditary angioedema"

 
Eur J Pediatr ; 1339-48 ; September 2012
 
Hereditary recurrent fevers: guidelines for the genetic diagnosis
 
Consult the PubMed abstract
 
To read more about "Familial mediterranean fever"
To read more about "Hyperimmunoglobulinemia D with periodic fever"
To read more about "TRAPS syndrome"
To read more about "Cryopyrin-associated periodic syndrome"

 
Ann Rheum Dis ; 1599-605 ; October 2012
 
Multiple endocrine neoplasia type 1: clinical practice guidelines
 
Consult the PubMed abstract
 
To read more about "Multiple endocrine neoplasia type 1"

 
J Clin Endocrinol Metab ; 2990-3011 ; September 2012
 
Bioinformatics, Registries and Data Management
 

 
Norwegian researchers develop web-based supportive social software resource programme to foster self-care and independence for patients with a rare anomaly
 
A paper appearing in the journal Work describes RareICT, a social software programme developed by Norwegian researchers. RareICT is a Norwegian language web-based resource that supports family efforts to “live well” despite the presence of the rare physical, congenital malformation anorectal anomaly, in a family member. Anorectal anomaly is a rare malformation with different degrees of severity. The condition is often surrounded with shamefulness and/or secrecy, presenting challenges to physical functioning (in particular related to toileting and bowel management), and psychosocial and emotional wellbeing. RareICT is built on a wiki mind-set and with the goal of sustaining “… collaborative knowledge production processes, and at the same time accommodate growth as the resource co-evolves like an online encyclopedia with patients’, family members’ and health providers’ exchange of practical arrangements, everyday experiences and knowledge“. RareICT is thus a resource of continuously updated information where patients and family members can “…contribute or elicit practical strategies and routines, learn from peers’ experiences and gain additional knowledge for self-care and coping in everyday activities”.
Consult the PubMed abstract

 
An international registry for neurodegeneration with brain iron accumulation created within the context of the FP7-funded TIRCON project
 
The Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON) project, a Seventh Framework Programme-funded initiative addressing urgent and unmet therapeutic needs for Neurodegeneration with Brain Iron Accumulation (NBIA) has created a registry to gather information and expertise. A paper published in the open-access Orphanet Journal of Rare Diseases describes the technical features and clinical contents of this international registry as well as future perspectives.
Consult the Orphanet Journal of Rare Diseases article
Learn more about the Tircon project

 
Two recent publications report on the Eurofever registry for autoinflammatory diseases
 
An Extended Report appearing in the Annals of Rheumatic Diseases describes the Eurofever registry for autoinflammatory diseases, including monogenic diseases as well as multifactorial autoinflammatory syndromes, such as Behcet disease. The Eurofever registry is a web-based tool for patients that, at the time of publication, had 1880 individuals enrolled from 67 centres in 31 countries. The registry has collected data in the areas of clinical presentation, disease course, and treatment response. Another recent article in the same review focuses specifically on response to treatment and includes an overview of related literature.
Consult the PubMed abstracts

 
Screening and Testing
 
Two separate articles address diagnostics issues for rare cancers
 
An intriguing article appearing in Lancet Oncology asserts that for paediatric cancers, delayed diagnosis is not necessarily linked to an adverse outcome. Indeed, while delayed diagnosis is detrimental to certain cancers, including retinoblastoma and potentially leukaemia, nephroblastoma and rhabdomyosarcoma, for others, including central nervous system tumours, osteosarcoma, or Ewing sarcoma, late diagnosis has no impact, or, paradoxically, has a positive impact on disease outcome (learn more).

In other news, a study published in Computers in Biology and Medicine describes a new tool for supporting rare cancer decision making including improving diagnostic assessments and prognosis. The Decision Support System uses a Graphics Processing Unit framework that enables optimal selection of the most informative histological typing criteria, in contrast to standard implementations limited by processing and memory constraints. The proposed strategy is capable of updating its structure in real time when a new verified case is entered onto its repository and adjusts its design to the specific user-defined clinical question (learn more).

 


 
Orphanet News
 
New Texts
 
New rare disease emergency guideline available in Spanish for familial long QT syndrome
 
Orphanet provides rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. New guidelines are now available in Spanish for: Familial long QT syndrome (Síndrome de QT largo familiar).
 


 
New Syndromes
 

 
First cases of familial cortical myoclonus without epilepsy or other neurological deficits
 
The authors identified 11 members of a family suffering from adult onset, slowly progressive, disabling, multifocal cortical myoclonus in the face, arms and legs. This myoclonus is triggered by action, sudden movements, and/or by somatosensory stimuli, but not by light, noise, or startle. It is not associated with seizures or other neurological deficits although some severely affected individuals developed signs of progressive cerebellar ataxia of variable severity late in the course of their illness. This phenotype is clinically and electrophysiologically different from those of other familial pathologies including prominent myoclonus, like familial adult myoclonic epilepsy and myoclonus-dystonia syndrome. The authors propose the term familial cortical myoclonus (FCM) to name this movement disorder likely induced by a NOL3 mutation.
Consult the PubMed abstract

 
Ann Neurol ; 175-83 ; August 2012
 
A diencephalic-mesencephalic junction dysplasia with characteristic midbrain MRI findings
 
The authors report on six cases from three unrelated consanguineous families displaying severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Older patients exhibit autistic features and affected members of two families also suffer from talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous. Brain imaging shows a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections, variable degrees of supratentorial ventricular dilatation, and hypoplasia to complete agenesis of the corpus callosum. Lack of an identifiable corticospinal tract is also observed in two patients. The term ‟diencephalic–mesencephalic junction dysplasia” is suggested for this brain malformation
Consult the PubMed abstract

 
Brain ; 2416-27 ; August 2012
 
A novel chondroectodermal dysplasia mapped to chromosome 2q24.1-q31.1
 
A novel form of chondroectodermal dysplasia is described by the authors. It affects four sisters and brothers of a consanguineous family presenting with proportionate short stature, osteopenia with fracturing of bones, hypodontia, hypertrophic and convex shaped nails of the toes, night blindness, watering eyes due to narrow tear duct and ear infections. Osseous anomalies are also observed, some of them leading to abnormal gait and difficulty in walking. According the genetic analysis performed in this study, this chondroectodermal dysplasia is mapped to chromosome 2q24.1-q31.1.
Consult the PubMed abstract

 
Eur J Med Genet ; 455-60 ; August 2012
 
A novel form of autosomal recessive complex hereditary spastic paraparesis linked with a Vps37A mutation
 
The authors characterised a novel form of autosomal recessive complex hereditary spastic paraparesis (CHSP) from examinations on nine members born to two seemingly unrelated families. The affected children exhibit developmental and motor delay from the first or second year of life, followed by unsteadiness in standing, and difficulties in walking. They all suffer from spasticity in the lower limbs that progressed to the upper extremities, mild to moderate delays in cognition and speech, kyphosis, pectus carinatum, and small joint hyper-flexibility. Some of them also present with hypertrichosis. No abnormality is detected on MRI studies of brain and spinal cord, metabolic measurements, EEG, EMG, muscle biopsy and oxidative phosphorylation studies. A causative mutation has been found in Vsp37A encoding a subunit of the endosomal sorting complex required for transport ESCRT-I.
Consult the PubMed abstract

 
J Med Genet ; 462-72 ; July 2012
 
A possibly new X-linked intellectual disability resembling Wilson-Turner syndrome
 
The authors report on a family history of X-linked intellectual disability affecting seven males, as well as seven females with milder manifestations. In male cases, the intellectual deficiency is associated with truncal obesity, gynaecomastia, hypogonadism, short stature, small hands, and a typical face characterised by a small head, short ears, prominent supraorbital ridges, deep-set eyes, high cheekbones, broad nasal tip, columella somewhat below the nasal alae, thin upper vermillion, and retrognathia. In affected females, the milder clinical signs include learning disorder and specific facial features such as high cheekbones and broad nasal tip. However these two last particularities are absent in one female case. In addition, three members of this family present with isolated learning difficulties. A HDAC8 variant segregating with this phenotype provides the first evidence supporting a role of this histone deacetylase in a syndromic form of intellectual deficiency. Given that the phenotype described here resembles that of Wilson-Turner syndrome (WST) and that HDAC8 is located in the original WST locus, the authors don’t rule out the hypothesis that both X-linked intellectual disabilities can be induced by different genes within the same chromosomal region.
Consult the PubMed abstract

 
J Med Genet ; 539-43 ; August 2012
 


 
New Genes
 

 
POC1A mutations are associated with short stature, specific facial features, and in some cases onychodysplasia and hypotrichosis
 
Two groups each have identified a homozygous deleterious mutation in POC1A as responsible for a specific primordial dwarfism with peculiar facial features. The phenotype of patients described in the first article (Sarig et al.) was recently presented in the 18 July 2012 issue of OrphaNews Europe. These patients, older than patients described in the second article, also display onychodysplasia and hypotrichosis. The authors coined the acronym SOFT (Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis) to name the syndrome.
Consult the PubMed abstract

 
Am J Hum Genet ; 330-6; 337-42 ; 10 August 2012
 
Alternating hemiplegia of childhood: most cases are due to de novo ATP1A3 mutations
 
Consult the PubMed abstracts
 
To read more about "Alternating hemiplegia of childhood"

 
Nat Genet ; 1030-4 ; September 2012
Lancet Neurol ; 764-73 ; September 2012
 
Leber congenital amaurosis: mutations identified in NMNAT1, some of them involved in an early-onset severe form
 
Consult the PubMed abstracts
 
To read more about "Leber congenital amaurosis"

 
Nat Genet ; 972-4; 975-7; 1035-9; 1040-5 ; September 2012
 
Adams-Oliver syndrome: RBPJ mutations identified in two families establish a link with Notch pathway
 
Consult the PubMed abstract
 
To read more about "Adams-Oliver syndrome"

 
Am J Hum Genet ; 391-5 ; 10 August 2012
 
Oral-facial-digital syndrome type 4, Joubert syndrome with orofaciodigital defect: TCTN3 mutations involved in a severe form
 
Consult the PubMed abstract
 
To read more about "Oral-facial-digital syndrome type 4"
To read more about "Joubert syndrome with orofaciodigital defect"

 
Am J Hum Genet ; 372-8 ; 10 August 2012
 
Hereditary motor and sensory neuropathy, Okinawa type: a TFG mutation highlights a new pathway of motor neuron death
 
Consult the PubMed abstract
 
To read more about "Hereditary motor and sensory neuropathy, Okinawa type"

 
Am J Hum Genet ; 320-9 ; 10 August 2012
 
Cornelia de Lange syndrome: HDAC8 mutations disturb the cohesine acetylation cycle
 
Consult the PubMed abstract
 
To read more about "Cornelia de Lange syndrome"

 
Nature ; 313-7 ; 13 September 2012
 
Amyotrophic lateral sclerosis: PFN1 mutations cause a familial form with cytoskeletal pathway alterations
 
Consult the PubMed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Nature ; 499-503 ; 23 August 2012
 
X-linked cerebellar ataxia type 1: a mutation in plasma membrane Ca2+ ATPase isoform 3 (ATP2B3 gene) impairs Ca2+ homeostasis
 
Consult the PubMed abstract
 
To read more about "X-linked cerebellar ataxia type 1"

 
PNAS ; 14514-9 ; 4 September 2012
 
Arrhythmogenic right ventricular dysplasia: a causative DES mutation associated with accumulation of desmin in muscle
 
Consult the PubMed abstract
 
To read more about "Arrhythmogenic right ventricular dysplasia"

 
Eur J Hum Genet ; 984-5 ; September 2012
 
Brachyolmia: PAPSS2 mutations cause an autosomal recessive form with a gradation of phenotypes
 
Consult the PubMed abstract
 
To read more about "Brachyolmia"

 
J Med Genet ; 533-8 ; August 2012
 
Smith-McCort dysplasia: a RAB33B mutation supports the critical role of Golgi apparatus and intracellular traffic
 
Consult the PubMed abstract
 
To read more about "Smith-McCort dysplasia"

 
J Med Genet ; 455-61 ; July 2012
 
Hypohidrotic ectodermal dysplasia: a possible link with mutations altering TRAF6 or TRAF6 interacting domain of XEDAR
 
Consult the PubMed abstracts
 
To read more about "Hypohidrotic ectodermal dysplasia"

 
Br J Dermatol ; 1353-6 ; June 2012
J Med Genet ; 499-501 ; August 2012
 
Cleidocranial dysplasia: microduplications dysregulating MSX2 expression reveal an additional pathogenic mechanism
 
Consult the PubMed abstract
 
To read more about "Cleidocranial dysplasia"

 
J Med Genet ; 437-41 ; July 2012
 


 
Research in Action
 



 
Fundamental Research
 
Glutaric acidemia type 2: mutations at the flavin binding site of ETF:QO in drosophila reproduce the biochemical defects of severe human forms
 
Consult the PubMed abstract
 
To read more about "Glutaric acidemia type 2"

 
Biochim Biophys Acta ; 1284-92 ; August 2012
 
Spinocerebellar ataxia type 3: inhibition of calpain activity reduces neural dysfunction and neurodegeneration in mouse brain
 
Consult the PubMed abstract
 
To read more about "Spinocerebellar ataxia type 3"

 
Brain ; 2428-39 ; August 2012
 
Leber congenital amaurosis: Gucy2f-knockdown zebrafish can serve as available model
 
Consult the PubMed abstract
 
To read more about "Leber congenital amaurosis"

 
Eur J Hum Genet ; 884-9 ; August 2012
 
Idiopathic pulmonary fibrosis: a review about newly described cellular and molecular mechanisms
 
Consult the PubMed abstract
 
To read more about "Idiopathic pulmonary fibrosis"

 
Lancet ; 680-8 ; 18 August 2012
 
Multiple sulfatase deficiency: astrocyte dysfunction triggers neurodegeneration
 
Consult the PubMed abstract
 
To read more about "Multiple sulfatase deficiency"

 
PNAS ; E2334-42 ; 28 August 2012
 
Rett syndrome: MECP2 appears required to maintain full neurological function once development is complete, but not for brain development
 
Consult the PubMed abstract
 
To read more about "Rett syndrome"

 
Brain ; 2699-710 ; September 2012
 
Steinert myotonic dystrophy: Mbnl2 knockout mice study suggests brain pathology results from disruption of the MBNL2-mediated developmental splicing programme
 
Consult the PubMed abstract
 
To read more about "Steinert myotonic dystrophy"

 
Neuron ; 437-50 ; 9 August 2012
 
Idiopathic and/or familial pulmonary arterial hypertension: impaired natural killer cell phenotype and function identified in patients
 
Consult the PubMed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

 
Circulation ; 1099-109 ; 28 August 2012
 
Shwachman-Diamond syndrome: SBDS appears to be required for normal pancreatic development and function in a new mouse model with pancreas-specific SBDS knockout
 
Consult the PubMed abstract
 
To read more about "Shwachman-Diamond syndrome"

 
Gastroenterology ; 481-92 ; August 2012
 
Clinical Research
 
Very early-onset inflammatory bowel disease with perianal disease:
 
patients should be screened for IL10/IL10R deficiency, and allogenic haematopoietic stem cell transplantation can induce remission in case of IL10R deficiency
 
Consult the PubMed abstract
 
Gastroenterology ; 347-55 ; August 2012
 
Juvenile idiopathic arthritis: a prediction model to identify JIA patients not responding to methrotrexate
 
Consult the PubMed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Ann Rheum Dis ; 1484-9 ; September 2012
 
Juvenile idiopathic arthritis: parenteral methotrexate is not superior to oral administration regarding efficacy and tolerability
 
Consult the PubMed abstract
 
To read more about "Juvenile idiopathic arthritis"

 
Arthritis Care Res (Hoboken) ; 1349-56 ; September 2012
 
Behcet disease: immunosuppressive agents significantly reduce the incidence of venous thrombosis relapse
 
Consult the PubMed abstract
 
To read more about "Behcet disease"

 
Arthritis Rheum ; 2753-60 ; August 2012
 
Early-onset autosomal dominant Alzheimer disease: the first biomarker changes can be detected more than 20 years before the clinical onset of dementia
 
Consult the PubMed abstract
 
To read more about "Early-onset autosomal dominant Alzheimer disease"

 
N Engl J Med ; 795-804 ; 30 August 2012
 
Uveitis: a better interdisciplinary approach might help earlier diagnosis of co-existing diseases and patient management
 
Consult the PubMed abstract
 
To read more about "Uveitis"

 
Orphanet J Rare Dis ; 57 ; 29 August 2012
 
Stem Cells
 

 
Multiple system atrophy: autologous mesenchymal stem cell1 therapy could delay the progression of neurological deficits in mild to moderate stages
 
Consult the PubMed abstract
 
To read more about "Multiple system atrophy"

 
Ann Neurol ; 32-40 ; July 2012
 
Cystic fibrosis: a method for generating patient-specific airway epithelial cells for disease modeling and in vitro drug testing
 
Consult the PubMed abstract
 
To read more about "Cystic fibrosis"

 
Nat Biotechnol ; 876-82 ; September 2012
 
Gene Therapy
 
Autosomal dominant nonsyndromic sensorineural deafness type DFNA: successful restoration of hearing using AAV-VGLUT3 delivery in mouse
 
Consult the PubMed abstract
 
To read more about "Autosomal dominant nonsyndromic sensorineural deafness type DFNA"

 
Neuron ; 283-93 ; 26 July 2012
 
Duchenne muscular dystrophy: regional gene delivery with transient immunosuppression reconstitutes the dystrophin-glycoprotein complex in a dog
 
Consult the PubMed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Mol Ther ; 1501-7 ; August 2012
 
Sandhoff disease: intracranial transfer of genes encoding the deficient enzymes at a few strategic sites treats neurodegeneration in mouse
 
Consult the PubMed abstract
 
To read more about "Sandhoff disease"

 
Mol Ther ; 1489-500 ; August 2012
 
Mucopolysaccharidosis type 3: hematopoietic stem cell transplantation more efficient when conjugated with gene therapy
 
Consult the PubMed abstract
 
To read more about "Mucopolysaccharidosis type 3"

 
Mol Ther ; 1610-21 ; August 2012
 
Meckel and Jeune syndromes: IFT88 is a disease causing gene and gene therapy rescues cilia defects and restores olfactory function in a mouse model
 
Consult the PubMed abstract
 
To read more about "Meckel syndrome"
To read more about "Jeune syndrome"

 
Nat Med ; 1423-8 ; September 2012
 
Therapeutic Approaches
 
Steinert myotonic dystrophy: antisense silencing corrects physiological, histopathologic and transcriptomic features in mouse
 
Consult the PubMed abstract
 
To read more about "Steinert myotonic dystrophy"

 
Nature ; 111-5 ; 2 August 2012
 
Glioblastoma: FGFR inhibitors may be beneficial for a small subset of patients found to harbour an oncogenic FGFR-TACC fusion
 
Consult the PubMed abstract
 
To read more about "Glioblastoma"

 
Science ; 1231-5 ; 7 September 2012
 
Amyotrophic lateral sclerosis: targeting EPHA4 or APP may be helpful in the design of a disease-modifying approach
 
Consult the PubMed abstracts
 
To read more about "Amyotrophic lateral sclerosis"

 
Hum Mol Genet ; 3871-82 ; 1 September 2012
Nat Med ; 1418-22 ; September 2012

 
Omenn syndrome: anti-CD3 epsilon monoclonal antibody improves thymic architecture and prevents autoimmune manifestations in a mouse model
 
Consult the PubMed abstract
 
To read more about "Omenn syndrome"

 
Blood ; 1005-14 ; 2 August 2012
 
Rett syndrome: fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of mice lacking MECP2
 
Consult the PubMed abstract
 
To read more about "Rett syndrome"

 
PNAS ; 14230-5 ; 28 August 2012
 
Duchenne muscular dystrophy: new promising approaches to restore dystrophin expression in mice
 
Consult the PubMed abstract
 
To read more about "Duchenne muscular dystrophy"

 
PNAS ; 13763-8 ; 21 August 2012
Hum Mol Genet ; 4007-20 ; 15 September 2012
 
Diagnostic Approaches
 

 
Bardet-Biedl syndrome, Alström syndrome: a strategy providing reliable detection of causative mutations for diseases with high genetic heterogeneity
 
Consult the PubMed abstract
 
To read more about "Bardet-Biedl syndrome"
To read more about "Alström syndrome"

 
J Med Genet ; 502-12 ; August 2012
 


 
Patient Management and Therapy
 

 
Moyamoya disease: two separate articles propose guidelines
 
Access the articles via PubMed
 
To read more about "Moyamoya disease"

 
J Neurosurg Pediatr ; 353-60 ; April 2012
Neurol Med Chir ; 245-66 ; April 2012
 
Aniridia: clinical manifestations, molecular basis including genotype-phenotype correlations, diagnostic approaches and management
 
Consult the PubMed abstract
 
To read more about "Aniridia"
To read more about "Isolated aniridia"
To read more about "Syndromic aniridia"

 
Eur J Hum Genet ; 1011-7 ; October 2012
 
Congenital muscular dystrophy: a review about the recent advances improving understanding of the pathogenic mechanisms
 
Consult the PubMed abstract
 
To read more about "Congenital muscular dystrophy"

 
Ann Neurol ; 9-17 ; July 2012
 
Cleft palate, cleft lip/palate: when is prenatal invasive diagnosis indicated and what about genetic counselling?
 
Consult the PubMed abstract
 
To read more about "Cleft palate"
To read more about "Cleft lip/palate"

 
J Med Genet ; 490-8 ; August 2012
 
An update on primary angiitis of the central nervous system
 
Consult the PubMed abstract
 
To read more about "Primary angiitis of the central nervous system"

 
Lancet ; 767-77 ; 25 August 2012
 
Interstitial lung disease: a focus on connective tissue disease-associated forms
 
Consult the PubMed abstract
 
To read more about "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease"

 
Lancet ; 689-98 ; 18 August 2012
 
Dermatomyositis: recent advances in understanding of the pathogenesis and in therapeutic approaches of the juvenile form
 
Consult the PubMed abstract
 
To read more about "Dermatomyositis"

 
Ther Adv Musculoskelet Dis ; 41-50 ; February 2012
 
Carnitine uptake deficiency: an overview of clinical manifestations, diagnosis, and management
 
Consult the PubMed abstract
 
To read more about "Carnitine uptake deficiency"

 
Orphanet J Rare Dis ; 68 ; 18 September 2012
 
Two new Clinical Utility Gene Cards available
 
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 two new Clinical Utility Gene Cards for:
Centronuclear and myotubular myopathies
Glanzmann thrombasthenia

 


 
Orphan Drugs
 

 
Regulatory News
 
16 positive opinions recommending orphan designation at the October COMP meeting
 

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 16 positive opinions recommending orphan designation at the October 2012 COMP meeting for the treatment of:

- macular telangiectasia type 2
- glioma (two products)
- malignant thymoma
- retinitis pigmentosa
- ovarian cancer
- tumour necrosis factor receptor-associated periodic syndrome
- neuroblastoma
- mercury toxicity
- systemic light chain amyloidosis
- African trypanosomiasis
- cutaneous T-cell lymphoma
- multiple myeloma
- dyskeratosis congenita
- senile systemic amyloidosis
- idiopathic pulmonary fibrosis

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

 
Political and Scientific News
 
A look at the impact of the orphan drug regulatory environment
 
An article appearing in Drug Discovery Today written by a member of the European Medicines Agency depicts the regulatory environment for orphan medicinal products, comparing various policies (USA, EU, Japan, Singapore, Australia, Taiwan, Canada). The author points out that “Only eight medicines in the EU and ten medicines in the US, which could have been classified as orphan drugs, were authorised before the adoption of the orphan drug legislation. After the implementation of the orphan drug legislation 70 and 403 new orphan drugs have been authorised in Europe and the US, respectively”. The author calls for a “clear and common definition of a rare disease and drug” in order to facilitate orphan drug designation and authorisation globally. It is pointed out that an orphan drug incentive is only successful if the product is authorised, commercialised and has an approved reimbursement process.
Consult the PubMed abstract

 
Compounded medications: orphan drug development should focus on rare diseases with an unmet medical need
 
The authors of an article appearing in the Journal of Clinical Pharmacy and Therapeutics revisit a topic that they have already expounded in the literature: the use of compounded medications to treat rare diseases. This article explores hospital compounded formulas available and already used for rare conditions. The authors call for orphan drug development to focus on conditions for which there is neither a compounded nor orphan product available.
Consult the PubMed abstract

 


 
Grants
 
Online Submission Portal now open for the European Clinical Research Infrastructures Network (ECRIN) call supporting multinational extension of rare disease clinical trials
 

The European Clinical Research Infrastructures Network (ECRIN) is a European network dedicated to improving the health of patients and citizens across the world through clinical research. The Work Package 4 of the ECRIN Integrated Activity (2012-2015), funded by the Seventh Framework Programme, is dedicated to structuring a European rare diseases clinical research network. ECRIN has issued a call for proposals aimed at facilitating the conduction of multinational trials. Eligible projects include Investigator-initiated, multinational, randomised clinical trials with secured public or charity funding for conduction of the trial in the sponsor’s country and targeting rare diseases, medical devices, or nutrition. The Online Submission Portal for the Ecrin-IA WP7 call is now available, accessible through the Ecrin website. The Notice to the Applicant document has also been updated. Minor changes have been included and listed in the second page of the document (What's new). The deadline for submitting a preliminary proposal is 15 December 2012.

 


 
Courses & Educational Initiatives
 

 
European Cytogeneticists Association Courses
 
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics 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. Information for the 2013 course is now available.
For further details

 
Online Master of Science in Haemoglobinopathy
 
A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
For further details

 
The European School of Haematology distance learning tools
 
The European School of Haematology (ESH) is a non-profit organisation founded in 1986. Its mission is continuous medical education in Haematology and the fields related to Haematology. ESH organises conferences throughout Europe and on other continents. It also produces distance learning tools of which many are freely available on the ESH website: These include: The Curriculum on Iron Metabolism and Related Disorders: This is a comprehensive curriculum comprising webcasted lectures, videos, interviews, round table discussions etc. The faculty is composed of distinguished international experts in the field. Webcasted conferences are also freely available on the website, including topics such as: Diagnosis and Management of Rare Anaemias; Haemoglobin Disorders: Laboratory Diagnosis and Clinical Management; World Cord Blood Congress, and more.
 
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
 
The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2013 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination.
For further details

 
Orphan Academy 2012 Programme
 
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

 
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
 
The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
For further details

 


 
What's on Where?
 

 
41st European Society of Clinical Pharmacy Symposium: Personalised and Safe Therapy
 
Date: 29-31 October 2012
Venue: Barcelona, Spain

Featuring a session on Cross-border Healthcare and Rare Diseases. Other topics include Orphan drugs and ultra orphan drugs; European perspective of the clinical trials; Modeling and simulation in the development of new drugs by the pharmaceutical industry; Pharmacogenetics and pharmacists; Advances in personalized therapy in oncology; Approach to the polymedicated patient; Cost containment measures in hospital pharmacy services: the role of the hospital pharmacy services in the rational use of drugs, and more.
For further details

 
6th International Workshop on Alkaptonuria
 
Date: 1-2 November 2012
Venue: Piestany, Slovakia

This one and a half day meeting will include talks from international experts in alkaptonuria (AKU) research. Sessions will include Organ involvement in ochronotic arthropathy; Ins and outs in micro-studies of AKU arthropathies; Homogentisic acid oxidase: enzyme replacement therapy for alkaptonuria; Gene therapy hope for ochronosis patients; Cartilage and bone biomarkers, including preliminary results in alkaptonuria; and more.
For further details

 
International Ataxia Research Conference
 
Date: 1-3 November 2012
Venue: London, UK

Topics will include emerging therapeutic strategies for the ataxias; genetic and molecular analysis of the frataxin gene and protein; episodic ataxias and non-inherited ataxias; ataxia clinical research from trials to clinic – biomarkers and clinical trials; and more.
For further details

 
8th International Society for Newborn Screening European Regional Meeting
 
Date: 4-6 November 2012
Venue: Budapest, Hungary

Topics will include: To screen or not to screen - setting up screening panels; Congenital adrenal hyperplasia; Cystic fibrosis; Severe combined immune deficiencies; Lysosomal storage disorders; and more. .
For further details

 
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
 
Date: 7-9 November 2012
Venue: Prague, Czech Republic

Topics will include Refractory Cytopenia of Childhood, advanced MDS; Juvenile Myelomonocytic Leukemia; Ph-negative Myeloproliferative Disorders; Therapy-related myeloid neoplasia; Severe Aplastic Anemia; Congenital Bone Marrow Failure; Morphology and Classification; Stem cell biology; Molecular aberrations and potential targets; Novel therapeutics, and Hematopoietic Stem Cell Transplantation.
For further details

 
Newborn Screening: Challenges for Europe
 
Date: 19 November 2012
Venue: Brussels, Belgium

Considering the variety of policy questions that currently challenge newborn screening programmes across Europe, the VU University Medical Centre Amsterdam and the University of Leuven (Belgium) want to foster the international policy debate on neonatal screening by bringing different actors (academia, policy makers, patient organisations, industry) together in a one day symposium aimed at providing an actual overview of the evidence with regard to neonatal screening.
For further details

 
3rd Annual World Orphan Drug Congress
 
29-30 November 2012
Geneva, Switzerland

The 3rd annual World Orphan Drug Congress provides a forum for the rare disease industry. This commercial event has three dedicated tracks this year: clinical development and R&D; market access, pricing, and reimbursement; corporate development and partnerships.
For further details

 
Translating Genomics Conference
 
Date: 4 December 2012
Venue: Cambridge, UK

Topics include: Using genomics to improve population health; Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: from dream to reality; The public health perspective on translating genomics into health benefits: more important than ever; and more.
For further details

 
10th Asia-Pacific Conference on Human Genetics
 
Date: 5-8 December 2012
Venue: Kuala Lumpur, Malaysia

The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities.
For further details

 
Symposium ATP1A3 in Disease: From Gene Mutations to New Treatments
 
Date: 10-11 December 2012
Venue: Brussels, Belgium

The Symposium follows up on the recent breakthrough research on Alternating Hemiplegia of Childhood and Rapid-onset Dystonia Parkinsonism. It aims to facilitate further studies and collaborations and is intended for researchers, physicians, health professionals, private and public companies, and patient associations.
For further details

 
5th International Meeting on Pulmonary Rare Diseases and Orphan Drugs
 
Date: 8-9 February 2013
Venue: Milan, Italy

Dedicated to different types of rare pulmonary diseases affecting both parenchymal and vascular structures. Knowledge exchange and dissemination among experts on different areas of clinical and basic research in respiratory medicine, with different specialised pulmonary medicine expertise (from vascular to interstitial lung diseases), is part of the stimulating challenge of providing new insights into science and clinical care, thus helping patients and supporting doctors.
For further details

 
3rd Annual World Orphan Drug Congress
 
Date: 9-11 April 2013
Venue: Washington DC, USA

This event brings together industry, patient groups, payers and government seeking to expedite orphan drugs to patients.
For further details

 
First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
 
Date: 14-17 April 2013
Venue: Paphos, Cyprus

Proposed topics include: Cognitive disorders (CD): Phenotype-Genotype networks; gene identification, gene networks-complex inheritance; Linking CD genes and behavioural traits to neural networks; Disease mechanisms in CD – the synapse, gene regulation, epigenetic conditions, common pathways; therapeutic intervention.
For further details

 
7th Alstrom Syndrome International Family Conference and Scientific Symposium
 
Date: 9-13 May 2013
Venue: Massachusetts, USA

Medical professionals and scientists will hold Symposia on Thursday, 9 May and Saturday 11 May.
For further details

 
Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
 
Date: 22- 26 May 2013
Venue: Lausanne, Switzerland

The meeting will offer a unique opportunity to gather experts from all over the world to discuss the latest scientific and clinical issues on different topics, including the challenges of the new treatments for autoinflammatory diseases such as familial Mediterranean fever; new monogenic autoinflammatory diseases; systemic-onset JIA; Behçet; granulomatous diseases; amyloidosis; and other conditions.
For further details

 
9th European Cytogenetics Conference
 
Date: 29 June - 02 July 2013
Venue: Dublin, Ireland

An opportunity for cytogeneticists to come together to discuss developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further details

 
8th International Prader-Willi Syndrome Conference
 
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details

 
First International Primary Immunodeficiencies Congress (IPIC)
 
Date: 7-8 November 2013
Venue: Estoril, Portugal
The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
For further details

 


 
Media, Press & Publications
 

 
Advances in rare pulmonary diseases
 
An open-access Editorial article appearing in European Respiratory Review describes the advances made in the field of rare pulmonary diseases and the role of the International Congress on Rare Pulmonary Diseases and Orphan Drugs in moving forward many areas – such as research collaboration and knowledge sharing. The authors evoke the various factors that contribute to advancements in this area of rare disease medicine.
Consult the PubMed abstract

 
Case reports may not be frequently cited in the literature, but they still have an impact on the understanding of (rare) diseases and are of interest to readers
 
An article appearing in the Journal of Clinical Epidemiology brings up the value of Case Reports. For the world of rare diseases, a newly discovered syndrome or condition often starts as just that – a report of one or few cases. Strategically, however, Case Reports do not boost a scientific journal’s bibliometric impact factor (BIF) as they are infrequently cited in other publications. Because of this, many journals are discontinuing Case Reports, or including them in the Letters to the Editor section. The authors point out, however, that Case Reports are often very interesting for readers and contain valuable information. Anecdotal accounts of disease gain importance as more becomes understood of the disease aetiology. The authors call on journals to “sacrifice their BIF to solve the real problems that afflict the population”. Despite the growing trend of sweeping aside Case Reports, the open-access publication BMC Journal of Medical Case Reports has scores of highly accessed articles in its archives (learn more).
Consult the PubMed abstract

 
The Center for Drug Evaluation and Research monthly Small Business Chronicles provide information on orphan drugs and related topics
 
In the USA, in April of this year, the Center for Drug Evaluation and Research (CDER) Small Business Assistance team launched the FDA/CDER Small Business Chronicles, a monthly newsletter providing industry with useful information to assist in all aspects of drug marketing and regulation. The July newsletter focused specifically on Orphan Drugs, providing an overview of the incentives, eligibility requirements and resources in the USA. Other issues of the newsletter have featured investigational new drugs, quality issues, and electronic application submissions.
Learn more

 


 
Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews Europe is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (Poland), Alexandre Diniz (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP), Jaroslaw Waligora

Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Helen Michelakakis (Greece), Sandor Janos (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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