28 March 2012 print
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EUCERD Joint Action kick-off meeting reviews the work plan designed to help implement the Council Recommendation on an action in the field of rare diseases

The kick-off meeting for the European Union Committee of Experts on Rare Diseases (EUCERD) Joint Action took place on 12-13 March 2012 in Paris. The meeting began with a networking lunch for participants, comprised of all Work Package leaders and supporting staff as well as Jarek Waligora from the European Commission (EC), who gave the Welcome address and discussed the expectations from the perspective of the EC. Also in attendance was Georgios Margetidis from the Executive Agency for Health and Consumers (EAHC) who led discussions on EC Management, financial and activity reporting, requirements and timelines, coordinator and partner responsibilities and practical aspects of reporting updates. The meeting included a review of the communication and dissemination tools, including the revamped EUCERD website, to be unveiled shortly, the OrphaNews newsletter, and various outreach efforts. The rest of the meeting was largely devoted to presentation and discussion of the other EUCERD Joint Action Work Packages:

Domenica Taruscio (Istituto Superiore di Sanità, Italy) presented the actions planned to support the implementation of plans or strategies at Member State (MS) level (continuation of EUROPLAN). This will provide technical and capacity building support for developing and implementing national plans or strategies in the EU MS as well as the EFTA/EEA and non-EU countries. Isabel Peña-Rey (Ministry of Health, Social Policy and Equality, Spain) presented the actions to develop in order to map national initiatives addressing the quality of care in the field of RD in order to identify and share successful strategies and good practices.

Kate Bushby (University of Newcastle, UK) and Thomas Wagner (Johan Wolfgang Goethe Universität, Germany) will be responsible for ensuring integration of the RD initiatives across disease specific and national areas. They seek to integrate the different strands of work of the Joint Action, together with other activities of EUCERD, in order to support the implementation of the EU Commission Communication on rare diseases: Europe's challenges and Council Recommendation on an Action in the Field of Rare Diseases .

Ségolène Aymé (Inserm, France) presented foreseeing steps to contribute to the standardisation of rare diseases nomenclature at international level, focusing on efforts around Classification and Coding.

Yann Le Cam (Eurordis) and Dorica Dan (Eurordis) presented their views about how to promote Specialised Social Services for RD and integrate them into Social Policies and Services.

Glória Isidro (Instituto Nacional de Saude Doutor Ricardo Jorge, Portugal) is in charge of the evaluation of the EUCERD activities, to verify if the project is being implemented as planned and reaches the identified objectives.

The meeting concluded with the finalisation and agreement on the work plan and outcomes of the EUCERD Joint Action as well as a discussion on linking in other EUCERD activities. The next meeting of the Joint Action, to be held in a year, will measure the progresses and discuss plans to move forward.


EU Policy News
New European Commission proposal would give patients faster access to medicines
The European Commission has issued a proposal that would cap the amount of time European Union Member States have to take a decision on the pricing and reimbursement of newly authorised medicinal products. The proposal would allow 120 days for decisions on innovative medicinal products and includes strong measures designed to enforce the time limits. The Directive proposal would repeal and replace Directive 89/105/EEC, relating to the transparency of measures regulating the prices of medicinal products for human use and their inclusion in the scope of public health insurance systems. Orphan drugs, frequently expensive, are often slow to be brought to market, as their high prices can engender lengthy negotiation and health technology assessment procedures. The Directive proposal is sure to be subject to careful scrutiny by the rare disease and orphan drug community and could be very good news for rare disease patients across Europe as well as the professionals treating them.
Learn more


National & International Policy Developments
Other European news
Czech Republic lays groundwork for the Czech Association for Rare Diseases

Czech rare disease (RD) patient organisations have long felt a need to have official representation to speak on their behalf at higher levels. Three Czech RD patient organisations have thus decided to move things forward by organising a first official meeting, which took place a few days before Rare Disease Day 2012, bringing together patients and organisations with the aim of forming an umbrella organisation - an official association for RD in the Czech Republic. A total of 23 representatives from various RD groups participated in the meeting, which featured several presentations, including one from Dr Katerina Kubackova of the European Union Committee of Experts on Rare Diseases, who described the current rare disease situation at the European and national levels. Each representative had an opportunity to present their organisation. A workshop was held to identify the main activities of the national alliance, which will link together patient groups by a democratic, bottom-up approach. The Czech National Strategy for Rare Diseases was approved by the Czech government in 2009, and its National Action Plan is currently being drafted.
Learn more (in Czech language)

Born Healthy Needs Assessment toolkit for congenital disorders now available
Born Healthy is a community portal developed by the UK-based Foundation for Human Genomics and Population Health (PHG Foundation) in response to the need for developing countries to focus on reducing and treating birth defects in their populations. The PHG Foundation, at the 2010 Clinton Global Initiative Meeting, made a pledge to aid developing countries fight birth defects. Born Healthy has two principle elements: a toolkit for gathering knowledge on birth defects and the measures that can prevent or treat them; and a global community that can work together supporting national and regional initiatives in this area. The toolkit, for undertaking a health needs assessment, is freely available and to date includes seven topics: Down syndrome; Neural tube defects; Orofacial clefts; Health services; Preconception care and screening; Prenatal services; and Newborn screening.
Learn more

British Paediatric Surveillance Unit issues 25th annual report
The British Paediatric Surveillance Unit (BPSU) was established in 1986 to allow paediatricians to contribute to the epidemiological surveillance and further study of disorders affecting children. The BPSU has now published its 25th annual report. This study typically undertakes surveillance of rare childhood disorders and/or rare complications of common diseases (consult the Annual Report). The BPSU has recently undertaken new surveillance of several conditions, including: haemolytic uraemic syndrome and gender identity disorder.

EPPOSI releases 2012 work plan in the field of rare diseases

EPPOSI, a health-innovation organisation equally weighted between patient organisations, academic sciences and industry, has issued its 2012 Work Plan in the field of rare diseases. The Rare Disease Interest Group will take both a horizontal and vertical approach to address key issues, including the impact of ageing and neonatal screening.
Learn more

Other International News
New funding scheme kick-starts early-stage applied rare disease research
The Wellcome Trust is a global charitable foundation supporting research and education geared toward improving health. The foundation has announced a new mechanism, the Pathfinder Awards, which support academic-industry partnerships dedicated to early-stage applied research in the field of rare and neglected diseases. In a press release, the awards are described as “…intended to facilitate funding applications that would be considered too early for support under the Wellcome Trust's other translational funding schemes. The focus of the scheme is orphan and neglected diseases, where no current therapy exists or where the proposed product will be superior to the existing options”. The Pathfinder Awards will “kick-start” pilot research initiatives showing “significant potential” for developing innovative medicinal products for rare or neglected diseases. The funding scheme is open to international participation. This interesting and important initiative could insipre other funding agencies within the recently-created International Rare Disease Research Consortium (IRDiRC).
Learn more

Two new rare disease studies for Alport syndrome and for giant axonal neuropathy seek paediatric trial participants
Alport syndrome is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. A phase III, multi-centre, randomised, placebo-controlled, patient and investigator-blind study to determine the safety and efficacy of the angiotensin-converting-enzyme (ACE)-inhibitor ramipril in delaying disease progression in paediatric patients with early stages of Alport syndrome seeks study participants. The EARLY PRO-TECT Alport study (EudraCT Number: 2010-024300-10) coordinated by Prof. Dr. Oliver Gross (Dept. of Nephrology and Rheumatology, University Medical Centre Gottingen, Germany) seeks patients between 2 and 18 years of age with a definitive diagnosis of Alport syndrome.
Learn more
Another rare disease study actively seeking participants is the Giant Axonal Neuropathy (GAN) Natural History Study (ClinicalTrials.gov Identifier: NCT01503125) sponsored by Columbia University (USA). GAN is a degenerative disorder characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. Recruiting subjects with a clinical diagnosis of GAN, the study will chart the untreated course of the disease in an aim to arrive at clinical outcome measures for future clinical trials.
Learn more

Vietnam to expand prenatal and newborn screening networks
According to various news sources, Vietnam’s Department of Population and Family Planning is expanding both its prenatal and newborn screening programmes to include some 30% of newborns and 15% of pregnancies in the country by the year 2015 and 80% of newborns and 50% of pregnancies by 2020. Citing shortages of funds and equipment in many areas, the goal was deemed a “big challenge” by Dr Do Ngoc Tan, head of the country’s Department of Population and Family Planning. Of the estimated one million babies born in Vietnam each year, between approximately 22 000 and 30 000 have congenital defects.
Learn more

Guidance Documents and Recommendations
Clinical practice guidelines for Wilson disease now available from the European Association for the Study of the Liver (EASL)
Clinical Practice Guidelines have been published in the Journal of Hepatology for Wilson disease, an autosomal recessive disorder characterised by the toxic accumulation of copper, mainly in the liver and central nervous system.. Developed to assist clinicians and other healthcare providers in both the diagnosis and management of patients with Wilson disease, the Clinical Practice Guideline describes a number of generally accepted approaches for the diagnosis, prevention, and treatment of Wilson disease. Recommendations are based on a systematic literature review in the Medline (PubMed version), Embase (Dialog version), and the Cochrane Library databases using entries from 1966 to 2011.
Consult the PubMed abstract

Bioinformatics, Registries and Data Management

Diagnosis and prevalence rates of rare chromosome anomalies from the European Surveillance of Congenital Anomalies
The European Surveillance of Congenital Anomalies (EUROCAT) database provides information on the prevalence and nature of congenital anomalies. EUROCAT is a network of population-based congenital anomaly registers in Europe. Full-member registries send case data on all congenital anomalies in their region. A new article appearing in the European Journal of Human Genetics describes the data gleaned from 16 population-based registries from 11 European countries, focusing on rare chromosome anomalies diagnosed prenatally or before one year of age with delivery between 2000-2006 and including live births, terminations, and foetal deaths (from 20 weeks gestation). The study finds a rate of 43.6 chromosome errors per 10 000 births, explaining that prenatal screening in the first trimester raises the figure from the 17–31/10 000 reported in newborn studies to include the many foetuses that would have miscarried. Of a total of 10 323 cases with a chromosome abnormality, 7335 had a trisomy 21, 18 or 13. There were 1 737 rare chromosome anomaly cases (17%) for a prevalence of 7.4/10 000 births. The study reveals the range of prenatal diagnosis between countries and offers the “…only baseline prevalence figures currently available for health service planning for the management and care of people with a rare chromosome abnormality. The live birth prevalence rate of 3.7/ 10 000 births of long-term survivors … is significant and may be used to guide long-term healthcare for affected individuals”.
Consult the PubMed abstract

Pilot programme launched to establish Global Rare Diseases Patient Registry and Data Repository
In the USA, the Office of Rare Diseases Research (ORDR) of the National Institutes of Health, in collaboration with Patient Crossroads, Children Hospital of Philadelphia, and WebMD, has launched a two-year pilot programme to establish a Global Rare Diseases Patient Registry and Data Repository (GRDR) that will gather anonymised patient clinical information that can serve many different strands of the rare disease and orphan drug community – including research, clinical care, epidemiology, advocacy, and information. The GRDR “… will establish a common data repository for studying rare diseases by aggregating patient information from multiple registries based on a library of common data elements. By including any participating registry, the repository enables cross-disorder analysis which may result in non-obvious research correlations as well as providing a larger patient population for recruiting into trials”.
Learn more

How to coordinate the process from gene variant discovery to the production of guidelines that serve medicine?
An Editorial article appearing in Nature Genetics cleverly evokes the “alphabet soup” of initiatives working on disease-causing human gene variants and related activities, including identification, classification, and cross-referencing. In the midst of this beehive of activity is the need for standardised genetic and phenotypic nomenclature as well as the coordination and harmonisation of data sources and appropriate software. The Human Genome Organisation (HUGO) and the Human Variome Project (HVP) are two international organisations providing coordination of databased and curated genetic data and “encouraging stakeholders to see the bigger context in which they work”. As has previously been remarked, common standards, interoperability and free-access are prerequisites for truly moving forward the pipeline that will eventually stretch from variant discovery and documentation all the way to guidelines that can serve the field of medicine.
Consult the PubMed abstract

A framework for evaluating small area variations in care infrastructure for rare disease diagnostics and health outcomes
The authors of an article appearing in Health Policy describe a framework that can be used to identify differences in time to diagnosis and treatment outcomes across areas in the context of rare diseases. Studies on small area variations and the resulting effects reveal differences in patient care. For rare diseases, small area variations have not been addressed. The authors discuss different methods for identifying patients with a rare disease through the use of administrative data pertaining to diagnoses, procedure codes, reimbursement codes, ATC codes, or a combination of those. The article then outlines study designs that measure the time between the first symptom of a rare disease and its first diagnosis. The authors propose methodology that measures the effect of healthcare infrastructure on diagnostics and outcomes in the context of rare diseases and delineates potential policy implications based on studies utilising the framework presented.
Consult the PubMed abstract

Screening and Testing
A framework for identifying rare variants in complex diseases and determining an optimal study design
An article appearing in Genetics describes a framework for association testing of rare variants in complex diseases in family-based designs. Recent advances in next generation sequencing technologies yield an objective assessment of the importance of rare variants in complex diseases such as Alzheimer disease, schizophrenia, type-1 diabetes or autism. For such diseases, characterised by extensive genetic heterogeneity, each disease locus is likely responsible for just a small percentage of the affected individuals within a population. The authors present a framework that, based on the effective number of variants in a pair of affected relatives, could allow for quantifying the enrichment in rare disease variants in family- versus population-based samples and to identify the optimal study design that would allow for detecting rare disease variants in complex conditions. Software implementing the described methods that could help the design of association studies with rare variants is available on the first author’s webpage.
Learn more


Ethical, Legal & Social Issues

Paediatric patients faring well under Orphan Drug Act in the USA
A paper appearing in Pediatrics reviews the impact the 1983 Orphan Drug Act has had on paediatric patients with rare diseases in the USA. Analysing data over a ten-year period (2000-2009) the study finds that 26% of approved orphan medicinal products had indications for paediatric rare diseases. Furthermore, the percentage of marketing approvals for paediatric populations increased as the decade wore on, as did orphan designations (from 10 paediatric-only drugs in 2000 to 38 in 2009). Interestingly, a majority of paediatric-only designations and approvals involved diseases with a very low prevalence (afflicting less than 20 000 persons in the USA), indicating that research is being carried out on very rare diseases. Endocrine/metabolic diseases made up the disease area receiving the largest number of approved treatments (39%), followed by haematologic diseases. Orphan designations for products specifically targeting paediatric patients coupled with products indicated for both children and adults represent more than 80% of all designated products during the period of observation (926 of 1138). This study demonstrates that paediatric patients are faring well from the Orphan Drug Act in the USA. It would be interesting to compare similar data from the European Union.
Consult the PubMed abstract

Measures similar to orphan drug incentives sought to combat stagnating antibiotic research and develop treatments for resistant strains
The Infectious Diseases Society of America (IDSA) is calling upon US health officials to create legislation similar to the Orphan Drug Act that would spur research and development of antibacterial medicines and diagnostic tools to combat antibiotic-resistant bacterial infections such as methicillin-resistant Staph aureus. Citing reluctance on the part of biopharmaceutical companies to develop antibiotic products in the face of restricted use by physicians trying to prevent further drug resistance, the IDSA contends that industry needs incentives to pursue antibiotic research and development. Such incentives would include measures similar to those in place in the USA and Europe to stimulate treatments for rare diseases, such as data and market exclusivity, tax credits and public private partnerships.
Learn more


EU Project Follow-up
World’s largest study on relapse of childhood cancer acute lymphoblastic leukaemia
Charité – Universitatsmedizin Berlin (Germany) is coordinating “the largest study in the world” for relapses in previously treated acute lymphoblastic leukaemia (ALL). ALL relapse is the most common cause of death among children suffering from cancer. Within the scope of the IntReALL project (Study for Children with Relapsed ALL) relapses will be researched in cases where ALL has already been treated, with the aim of developing an optimised, internationally valid standard therapy for children with ALL relapse. A total of 23 mainly European partners – including clinics and companies – will be cooperating in the project. The EU Commission is sponsoring the 5-year project within the scope of the 7th Research Framework Programme (HEALTH-F2-2011-278514). All the paediatric cancers are rare diseases.
Learn more


Orphanet News
2011 annual activity report showcases the first achievements of the Orphanet Europe Joint Action

Orphanet, the reference portal for rare diseases and orphan drugs with partnerships in 37 pan-European countries, has published online its annual activity report for 2011. This document delineates the diverse activities of the network. This year’s report outlines the initial accomplishments under the Orphanet Joint Action, a funding mechanism between the European Commission and the EU Member States, which launched in April 2011. The governance of Orphanet was improved to ensure optimal governance and efficient workflow management. The creation of a homepage specific to each Orphanet country partner and in each country’s national language offers news of national rare disease and orphan drug developments in each country while allowing access to the common body of Orphanet information. Orphanet expanded in 2011 to include new member Canada and negotiations started with Argentina, Australia, Brazil, China and Japan. Other highlights of 2011 include the creation of Orphadata, an exciting new resource offering free access to the Orphanet dataset for use in research.
Consult the Annual Report

New Orphanet Journal of Rare Diseases publications

Nijmegen breakage syndrome (NBS)
Alagille syndrome: pathogenesis, diagnosis and management
(Published in the European Journal of Human Genetics Practical Genetics series in association with Orphanet).


New Syndromes

Atonal homolog 7 mutations induce multiple eye developmental defects
The authors report on multiple ocular developmental defects in two consanguineous families, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus. Recessive homozygous mutations of the Atonal homolog 7 (ATOH7) gene have been identified in both families. ATOH7 is one of the first transcription factors involved in retinal progenitor cell specification and plays a key role in optic nerve and ganglion cell development. This study clarifies the function of this gene in the ocular structure formation, especially in retinal vascular development and hyaloid vasculature regression.
Read the PubMed abstract

Hum Mol Genet ; 776-783 ; 15 February 2012
Atypical cold urticaria, immunodeficiency and autoimmunity caused by a temperature-sensitive signaling defect in B cells
Immunophenotyping and genetics studies were conducted in three families whose affected subjects had early onset cold urticaria with atypical manifestation usually elicited by cold wind rather than contact with cold objects. Variable immune defects were associated including atopy, granulomatous rash, autoimmune thyroiditis, the presence of antinuclear antibodies, sinopulmonary infections, and common variable immunodeficiency. Blood analysis revealed reduced levels of serum IgM and IgA, circulating natural killer cells and class-switched memory B cells while IgE levels were generally elevated. Deletions were found in the PLCG2 gene inducing a gain-of-function of the phospholipase Cγ2 protein responsible for this phenotype named by the authors as PLAID (PLCγ2-associated antibody deficiency and immune dysregulation). According to the authors, this mutation causes both excessive and deficient immune function due to a disturbance of the phospholipase-mediated signaling of B cells. This signalling defect is temperature-sensitive.
Read the PubMed abstract

N Engl J Med ; 330-338 ; 26 January 2012
Early-onset gigantism associated with mammosomatotroph hyperplasia
Three cases of rare hereditary pituitary hyperplasia, a mother and both her sons, were examined by the authors. They presented with very early-onset gigantism with abnormally high levels of serum GH, prolactin and IGF-I and no anomaly of the other pituitary axes. Results were relevant with diffuse mammosomatotroph hyperplasia with GH and PRL secretion by the same cells. None of the patients had features consistent with known disorders causing hyperplasia of GH secreting cells. The authors hypothesise that this condition is due to a possible pathogenetic mechanism characterised by paracrine or autocrine pituitary GHRH secretion during pituitary development resulting in pituitary maldevelopment with retention and expansion of the mammosomatotrophs. Total hypophysectomy restored levels of GH, Prolactine and IGF-I secretion to normal or low normal and more normal growth pattern.
Read the PubMed abstract

J Clin Endocrinol Metab ; E2078-E2087 ; December 2011

New Genes

Hypothyroidism with borderline abnormal thyroid hormone levels due to a THRA mutation
Read the PubMed abstract
To read more about "Peripheral resistance to thyroid hormones"

N Engl J Med ; 243-249 ; 19 January 2012
Fibrochondrogenesis: mutations in COL11A2 induce dominant or recessive forms
Read the PubMed abstract
To read more about "Fibrochondrogenesis"

Am J Med Genet A ; 309-314 ; February 2012
A novel etiology of polycystic and dysplastic kidneys due to mutations of BICC1 domains involved in the Wnt pathway inhibition
Read the PubMed abstract
To read more about "Multicystic renal dysplasia"

Hum Mut ; 86-90 ; January 2012
Neural tube defects: novel mutations affecting planar cell polarity identified in two genes
Read the PubMed abstracts
To read more about "Neural tube defect"

Hum Mutat ; 1371-1375: 384-390 ; December 2011; February 2012
Mutations in STRA6 involved in reduced vitamin A uptake activity and isolated colobomatous microanophtalmia
Read the PubMed abstract
To read more about "Colobomatous microphthalmia"

Hum Mutat ; 1417-1426 ; December 2011
PIK3R5 and neurological disorders: first link found in a family with ataxia and oculomotor apraxia
Read the PubMed abstract
To read more about "Spinocerebellar ataxia with axonal neuropathy type 2"

Hum Mutat ; 351-354 ; February 2012
Craniorachischisis is a neural tube defect likely due to mutations in planar cell polarity genes
Read the PubMed abstract
To read more about "Craniorachischisis"

Hum Mutat ; 440-447 ; February 2012
Idiopathic epilepsy: nonion channel gene mutations found in some simple and complex febrile seizures and temporal lobe epilepsy
Read the PubMed abstract
To read more about "Familial mesial temporal lobe epilepsy with febrile seizures"

Hum Mutat ; 124-135 ; January 2012
Dysspondyloenchondromatosis: mutations in one patient suggest a link with type II collagen disorder
Read the abstract
To read more about "Dysspondyloenchondromatosis"

Mol Syndromol ; 21-26 ; December 2011
Pulmonary arterial hypertension: Smad signalling pathway seems to have little involvement
Read the PubMed abstract
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Hum Mutat ; 1385-1389 ; December 2011

Research in Action

Fundamental Research
Mice with MYH9 mutations mimic hematologic, eye and kidney defects of human MYH9-related disease
Read the PubMed abstract
To read more about "MYH9-related thrombocytopenia"

Blood ; 238-250 ; 5 January 2012
Cherubism: mutations in the 3BP2 gene disrupt its Tankirase-mediated regulation and cause the disease
Read the PubMed abstract
To read more about "Cherubism"

Cell ; 1324-1339; 1340-1354 ; 9 December 2011
X-linked myotubular myopathy: a murine MTM1 model more workable than MTM1 KO mice
Read the PubMed abstract
To read more about "X-linked centronuclear myopathy"

Hum Mol Genet ; 811-825 ; 15 February 2012
Niemann-Pick type C disease : a novel mouse model best suited to the milder, late-onset forms study
Read the PubMed abstract
To read more about "Niemann-Pick disease type C"

Hum Mol Genet ; 730-750 ; 15 February 2012
Clinical Research
Pulmonary arterial hypertension: a drug for adult tested in children
Read the PubMed abstract
To read more about "Pulmonary arterial hypertension"

Circulation ; 324-334 ; 17 January 2012
An Austrian neonatal screening of lysosomal storage disorders showed higher than expected birth incidence
Read the PubMed abstract
To read more about "Gaucher disease"
To read more about "Glycogen storage disease type 2"
To read more about "Fabry disease"
To read more about "Niemann-Pick disease"

Lancet ; 335–341 ; 28 January 2012
Diagnosis of congenital disorders of glycosylation: next generation sequencing more efficient than gene-by-gene approach
Read the PubMed abstract
To read more about "CDG syndrome"

Genet Med ; 921-932 ; November 2011
Mutations in cardiac depolarizing channels in infancy onset of Brugada syndrome
Read the PubMed abstract
To read more about "Brugada syndrome"

Circulation ; 14-22 ; 3 January 2012
Kawasaki disease: lower occurrence of coronary artery lesions with initial treatment including ulinastatin, a urinary trypsine inhibitor
Read the PubMed abstract
To read more about "Kawasaki disease"

Circulation ; 2822-2828 ; 20 December 2011
Adjuvant capecitabine and oxaliplatin improved survival of gastric cancer patients after D2 gastrectomy
Read the PubMed abstract
To read more about "Gastric cancer"

Lancet ; 315-321 ; 28 January 2012
Haemophilia B: recombinant factor IX-Fc fusion protein may provide prolonged hemostatic protection not inducing inhibitory secretion
Read the PubMed abstract
To read more about "Hemophilia B"

Blood ; 666-672 ; 19 January 2012
Refractory Kawasaki disease: immunoglobulin therapy is safe and efficient when combined with corticosteroids
Read the PubMed abstract
To read more about "Kawasaki disease"

Pediatrics ; e17-e23 ; January 2012
A national study reveals 6% of vertebral fractures cases in children with rheumatic disorders 12 months after glucocorticoid initiation
Read the PubMed abstract
Arthritis Care Res ; 122-131 ; January 2012
Autoimmune disorders are associated with a high risk of pulmonary embolism in the first year after hospital admission
Read the PubMed abstract
To read more about "Immune thrombocytopenic purpura"
To read more about "Polyarteritis nodosa"
To read more about "Polymyositis"
To read more about "Dermatomyositis"

Lancet ; 244-249 ; 21 January 2012
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1): most patients can adapt to their home and school environment
Read the PubMed abstract
To read more about "Spinal muscular atrophy with respiratory distress"

Pediatrics ; e148-e156 ; January 2012
5-year survival in women with invasive epithelial ovarian cancer: BRCA2 mutations carriers have the best prognosis
Read the PubMed abstract
To read more about "Hereditary breast and ovarian cancer syndrome"

JAMA ; 382-390 ; 25 January 2012
Systemic sclerosis: IL12RB2 and IRAK1 genes involved, suggesting an influence of interleukin 12 signalling pathway and a sex chromosome
Read the PubMed abstract
To read more about "Systemic sclerosis"

Hum Mol Genet ; 926-933 ; 15 February 2012
Arthritis Rheum ; 3979-3987 ; December 2011
Stem Cells

Stargardt macular degeneration: visual acuity improved after embryonic stem cell therapy
Read the PubMed abstract
To read more about "Stargardt disease"

Lancet ; Epub ahead of print
Pluripotent stem cells vs embryonic stem cells in research and therapeutic
Read the PubMed abstract
Nature ; 295-305 ; 18 January 2012
Gene Therapy
γ-Sarcoglycanopathy: AAV vector allows γ-sarcoglycan replacement
Read the PubMed abstract
To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2C"

Brain ; Epub ahead of print ; January 2012
X-linked retinitis pigmentosa: photoreceptors preserved after subretinal injections of the RPGR gene in dogs
Read the PubMed abstract
To read more about "Retinitis pigmentosa"

PNAS ; 2132-2137 ; 7 February 2012
Dominant retinitis pigmentosa: efficiency of shRNA therapy in a murine model
Read the PubMed abstract
To read more about "Retinitis pigmentosa"

PNAS ; 18476–18481 ; 8 November 2011
Amyloidosis AL: siRNAs against amyloidogenic production
Read the PubMed abstract
To read more about "Primary amyloidosis"

Gene Ther ; 1150-1156 ; 18 December 2011
Haemophilia A: FIX variant bypasses FVIII and rescues coagulation in mice
Read the PubMed abstract
To read more about "Hemophilia A"

Blood ; 602-611 ; 12 January 2012
Neuronal ceroid lipofuscinosis: efficiency of gene replacement therapy can be optimise using molecular imaging methods
Read the PubMed abstract
To read more about "Congenital neuronal ceroid lipofuscinosis"

Gene Ther ; 1173-1178 ; 18 December 2011
HNF1α inhibits tumorigenicity in mice with hepatocellular carcinoma: an encouragement to cancer differentiation therapy
Read the PubMed abstract
To read more about "Hepatocellular carcinoma"

Hepatology ; 2036-2047 ; December 2011
Ataxia-telangiectasia: screening and functional characterization of ATM mutations in order to develop therapies
Read the PubMed abstract
To read more about "Ataxia-telangiectasia"

Hum Mutat ; 198-208 ; January 2012
Human artificial chromosome : a tool for the study of gene functions and the correction of gene deficiencies
Read the PubMed abstract
PNAS ; 20048-20053 ; 13 December 2011
Therapeutic Approaches
Retinoblastoma: the therapeutic promises of epigenetics
Read the PubMed abstract
To read more about "Retinoblastoma"

Nature ; 329-334 ; 11 January 2012
Achondroplasia: toward treatments promoting bone growth inhibiting constitutive FGFR3 phosphorylation?
A Read the PubMed abstract
To read more about "Achondroplasia"

Hum Mol Genet ; 841-851 ; 15 February 2012
Diagnostic Approaches

Pitt-Hopkins syndrome: a comprehensive diagnostic strategy based on TCF4 coding regions study
Read the PubMed abstract
To read more about "Pitt-Hopkins syndrome"

Hum Mutat ; 64-72 ; January 2012
Hairy cell leukaemia: Detection of the BRAF-V600E mutation improved diagnosis and differentiation with respect to HCL-like disorders
Read the PubMed abstract
To read more about "Hairy cell leukemia"

Blood ; 19219-19225 ; 5 January 2012

Patient Management and Therapy

Three 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 three new Clinical Utility Gene Cards for:
Acrodermatitis enteropathica

von Hippel-Lindau disease: an annual audiometry recommended for endolymphatic sac tumour surveillance
Read the PubMed abstract
To read more about "Von Hippel-Lindau disease"

Genet Med ; 1032-1041 ; 13 December 2011
Gastroenteropancreatic neuroendocrine tumour: multidisciplinary guidelines for disease management
Read the PubMed abstract
To read more about "Enteropancreatic endocrine tumor"

Gut ; 6-32 ; January 2012
Thalassemia in the time of gene therapy
Read the PubMed abstract
To read more about "Alpha-thalassemia"
To read more about "Beta-thalassemia"

Lancet ; 373-383 ; 28 January 2012

Orphan Drugs

Regulatory News
Rejection of advanced therapy product Glybera calls into question the role of the Committee on Advanced Therapies in the European Medicines Agency
An Editorial article appearing in Molecular Therapy recalls the recent rejection of approval for Glybera (alipogene tiparvovec) by the European Medicines Agency (EMA) despite the approval by the agency’s Committee on Advanced Therapies (CAT), a recently-created body specifically charged with preparing draft opinions for advanced therapy medicinal products (ATMPs). There are three types of advanced therapy products defined under the EU legislation: gene therapy products, somatic cell therapy products and tissue engineered products. The CAT prepares a draft opinion for each ATMP submitted to the EMA for evaluation as part of a marketing authorisation application, prior to the adoption of a final opinion by the Committee for Medicinal Products for Human Use (CHMP). In the case of Glybera, an AAV vector engineered to deliver a lipoprotein lipase cDNA to the muscle for the treatment of the rare disease lipoprotein lipase deficiency, the CHMP rejected the application despite the positive opinion of the CAT. The controversy involves the generation of statistically significant data in a small number of trial subjects, calling into question the long-term efficacy of Glybera. The Editorial article calls for clarification of the relationship between the CAT and the CHMP and for “greater emphasis” on the CAT opinion, citing the “very specific understanding of gene and cell therapy products” that the ATMPs require.
Consult the PubMed abstract

Helping move advanced therapy medicinal products down the development pipeline
A second article appearing in the same issue of Molecular Therapy takes a closer look at advanced therapy medicinal products (ATMPs) and what can be done to move such products further down the developmental pipeline. The main sponsors for ATMPs are academia, charities and small companies; stakeholders which, according to the authors, “…often have limited financial resources or regulatory expertise, leading to a ‘translational gap’ that must be proactively closed by regulators”. Of the 318 clinical trials involving 250 EudraCT-registered ATMPs that the authors analysed, the observation is made that of the orphan ATMPs, only one has an academic sponsor, the rest issue from charities or small specialised companies. Cell-based medicinal products (including somatic cell therapy and tissue-engineered products) make up over three-fourths of all the products, the rest being gene therapy products. The largest indication group was oncology, followed by cardiovascular diseases and haematology. The number of trials for ATMPs steadily increased during the study period (2004-2010) and as a majority of these trials were at an early stage, the authors suggest that “interaction with regulators” could benefit sponsors. In particular, clear communication of regulatory requirements could help academic, charity, and small company sponsors.
Consult the PubMed abstract

Political and Scientific News
Orphan medicine costs in Europe expected to plateau at approximately 4.6% of total pharmaceutical expenditure by 2016
An article appearing in the open-access Orphanet Journal of Rare Diseases calculates the potential impact of orphan medicinal products in Europe from an economic perspective. With more large and small biopharmaceutical companies adding orphan products to their portfolios, spurred by the incentives set out in Regulation No 141/2000 (the Orphan Drug Regulation) that deliberately seek to stimulate research and development of products for rare diseases, European healthcare policy makers are struggling to find room in their national budgets for the often pricey orphan drugs. In this study the authors sought to predict the total cost of orphan medicines in Europe between 2010 and 2020 as a percentage of total European pharmaceutical expenditure. Using a disease-based epidemiological model based upon designation and approval trends for new orphan medicines, as well as specific prevalence estimates, and historical price and sales data for orphan drugs in Europe, the authors offer a forecast of the diseases for which new orphan drugs will be approved over the next decade, and estimate the cost of such products during the life cycle of the disease (from drug launch through the end of market exclusivity). The budget impact of orphan drugs in Europe grew steadily over the first ten years from the introduction of the Orphan Drug Regulation in 2000, “driven primarily by the approval of new drugs for diseases in which no treatments were previously licensed” from 0% in 2000 to 3.3% by 2010. The authors predict that this trend will continue from 2010-2016 before reaching a plateau at “approximately 4.6% of total pharmaceutical expenditure by 2016”. Several reasons for the steadying of the budget impact for orphan medicines are offered, including the loss of marketing exclusivity and patent protection for early products approved around 2000; the “low success rate” of designated products; diminishing penetration of new drugs into prevalent populations; and issues relating to access. This forecast suggests that while the Orphan Drug Regulation has been successful in stimulating development of products for rare diseases and has caused an increase in the budget impact for orphan drugs, as a proportion of total pharmaceutical expenditure, the cost is likely to plateau between 4% - 5%. Thus, assert the authors, “fears of unsustainable cost escalation should not be used as rationale to review the orphan drug regulation”.
Consult the open-access article


Partnersearch, Job Opportunities
EUCERD Joint Action: working on bringing rare disease policy into action
Three positions are available at Newcastle University (UK) with Professor Kate Bushby in the Institute of Genetic Medicine to support the EUCERD Joint Action (www.eucerd.eu), the aim of which is to work in partnership with EU member states and the European Commission to deliver the aims of the Council Recommendation and Commission Communication on Rare Diseases:

Senior Research Associate (currently advertised at www.ncl.ac.uk/vacancies/)
This person will play a key role in the team coordinating the EUCERD Joint Action for Rare Diseases (EJA) and will lead on helping to accelerate implementation of the EC’s activities in the rare disease field, and to foster exchange of relevant experience, policies and practices between the Member States and stakeholders. They will work with existing groups such as Orphanet to manage the development and dissemination of information, guidelines and policies across the Member States especially as it relates to the future development of European Reference Networks. The candidate will also provide policy support to the EJA Coordinator and EUCERD members. A PhD or other postgraduate qualification in a relevant subject area and experience working with policy makers, experience of health-related issues pertaining to rare diseases and an understanding of European Health issues would be required. Excellent organisation skills are essential with a high level of administrative skills, flexibility and willingness to travel internationally.

Assistant Project Manager (to be advertised shortly)
This post will work with the EUCERD Joint Action Project Manager to provide comprehensive professional support service to the EJA Coordinator, EUCERD members and EJA partners in order to meet the objectives of the project. Experience working in a research environment is required as is some experience of managing projects to deadlines and in producing reports. The candidate must be flexible and willing to travel internationally.

Clinical Research Associate (to be advertised shortly)
This is an exciting opportunity for a doctor to work in developing interest in and policies for rare diseases ultimately to deliver better care outcomes for this traditionally neglected patient group. The successful applicant will be part of the international coordination team for this project and will work within a group internationally renowned for delivery of co-ordinated care for a group of rare diseases (inherited neuromuscular conditions). The main duties of the post will involve communication with the different EU member states via the EUCERD and the various EU networks on rare diseases. The successful candidate will have a medical degree with training in clinical genetics, neurology or paediatric neurology with a special interest in rare disease diagnosis and management.
All posts are full-time and tenable for 36 months. Informal enquires should be directed to either Kate Bushby or Stephen Lynn


Courses & Educational Initiatives

The European School of Genetic Medicine celebrates its 25th anniversary with special courses
The European School of Genetic Medicine will celebrate its 25th anniversary. For the occasion, a renewed edition of the Genetic Counselling Course and a special 25th Anniversary edition of the Medical Genetics Course are being organised. Registration for the upcoming ESGM 2012 Spring Courses is already open, including: Basic and Advanced Course in Genetic Counselling in Practice (14-20 April 2012); Course on Molecular and Statistical Genetics of Consanguinity (13-16 May 2012); 25th Course in Medical Genetics (20-25 May 2012). All ESGM courses can be followed live on the Internet through webcasting.
For further details

OroDysmorphology Course
The first OroDysmorphology course is being held on 24 May 2012 within the context of the 11th Congress of the European Academy of Paediatric Dentistry. Taking place in Strasbourg, France, this pre-congress course will gather European and world experts in the field of syndrome diagnosis and dysmorphology focusing on the oral cavity. The paediatric dentist can contribute to the dysmorphology approach and analysis of a patient/family affected by a syndrome or a rare disease by analysing carefully dental/orofacial malformations, liaising and interacting with the genetic and other health professionals team managing the patient. This hands-on course will allow participants to present and discuss their own cases in front of the expert panel and to benefit from brainstorming and collegial expertise in syndrome and orodental anomalies diagnosis. Therapeutic management of selected cases will be also discussed.
For further details

Epidermolysis Bullosa – An Introduction and Advanced Management courses
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses ; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
The Sixth Clinical Cytogenetics course will be held from 15-21 September 2012 at the Goldrain Castle in South Tyrol (Italy). The lectures are aimed at both clinicians and cytogeneticists who have strong mutual interests in both fields. To best profit from the lectures and exercises, participants should have at least one year of practical experience in laboratory and/or clinical cytogenetics. The Goldrain Prenatal Genetic Diagnosis,course tentatively scheduled from 6-12 October 2012, 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

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

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?

International Symposium on Hepatic Glycogen Storage Diseases
Date: 4-6 April 2012
Venue: Lyon, France

International experts will review the following topics: Glucose metabolism in neonates; A global overview of glycogen metabolism; Liver pathology: steatosis, fibrosis, hepatocellular adenomas and carcinomas and the role of dietary treatment on pathophysiology; Review of kidney, intestinal and muscle complications; and New advances in gene therapy.
For further details

Fourth International Meeting on Primary Central Hypoventilation Syndromes
Date: 13-14 April 2012
Venue: Warsaw, Poland

The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
For further details

Myomatrix 2012 Conference
Date: 22-24 April 2012
Venue: Nevada, USA

Myomatrix 2012 is a unique conference dedicated to exploring the junction between muscle and extracellular matrix, the myomatrix, the central starting point of inquiry into underlying disease pathogenesis in the CMDs and muscular dystrophies.
For further details

World Pulmonary Hypertension Day-Scientific Symposium
Date: 4-5 May 2012
Venue: Madrid, Spain

Topics include Advances in genetics and early diagnosis; Advances in research; Multidisciplinary support for patients; and more.
For further details

8th International Congress on Autoimmunity
Date: 9-13 May 2012
Venue: Granada, Spain

Updating physicians, immunologists, rheumatologists, researchers and clinicians interested in autoimmune diseases with the latest available diagnostic tools and new therapeutic avenues. Autoimmunity 2012 provides a key platform for those in search of cures to these diseases, to collaborate, exchange information and to network.
For further details

CILIA 2012 - Cilia in Development and Disease
Date: 16-18 May 2012
Venue: London, UK

Sessions will cover: Clinical aspects of ciliopathies and genotype/phenotype prediction; Structure and function of cilia; Role of cilia in development and ciliary signalling modules; Role of cilia in disease – human genetics and animal models; Translational therapy and current and future ciliotherapeutics; and more.
For further details

Sixth International Alkaline Phosphatases Symposium
Date: 16-19 May 2012
Venue: Huningue, France

This upcoming symposium will highlight the wealth of clinical data that has been obtained on the management of hypophosphatasia patients, while also discussing new information about other pathophysiological conditions related to alterations in alkaline phosphatases structure and function.
For further details

12th International Conference on Myasthenia Gravis and Related Disorders
Date: 21-23 May 2012
Venue: NY, USA

The Myasthenia Gravis Foundation of America and the New York Academy of Sciences present this 12th international conference to galvanize efforts among researchers studying autoimmune and neuromuscular junction disease and to encourage continued progress in the diagnosis and treatment of MG that will help to improve patient outcomes and quality of life. This 3-day international conference will feature topics that span basic, translational, and clinical neuroscience and immunology related to MG and other autoimmune and neuromuscular junction disorders.
For further details

6th European Conference on Rare Diseases & Orphan Products
Date: 23-25 May 2012
Venue: Brussels, Belgium

The conference is structured in such a way as to demonstrate the importance of EU actions in the field of rare diseases and review progress to date. With its plenary and parallel sessions addressing specific issues, knowledge-sharing is encouraged, the exchange of real experiences and best practices are integrated into the programme, cooperation and networking are stimulated and awareness is increased while ensuring continuity of action and prevention of duplication of efforts. Less advanced regions in this field will benefit from experience sharing with other areas in Europe. The Opening & Plenary Sessions will be interpreted into six languages: English, French, Spanish, German, Dutch and Russian.
For further details

5th International Conference on Ectodermal Dysplasia (ED2012)
Date: 1-3 June 2012
Venue: Erlanger, Germany

The ectodermal dysplasias are a large, heterogeneous group of hereditary disorders characterized by defective formation of tissues derived from embryonic ectoderm. ED2012 will provide a forum for multidisciplinary discussions on treatment paradigms as well as innovative approaches to improving the lives of patients with ectodermal dysplasia.
For further details

1st European Conference on Aniridia
Date: 8-10 June 2012
Venue: Oslo, Norway

The Norwegian Association of Aniridia is hosting the first international, medical conference on the rare eye disease Aniridia. International experts within the fields of ophthalmology, genetics and paediatrics will present their latest findings. Deadline for abstract submission : 1 April 2012.
For further details

10th International Primary Hyperoxaluria Workshop
Date: 22-23 June 2012
Venue: Bonn, Germany

A venue for exploring advances in the diagnostics, molecular biology, pathophysiology and treatment in the field of hyperoxaluria.
For further details

European Human Genetics Conference 2012
Date: 23-26 June 2012
Venue: Nurnberg, Germany

A rich programme awaits participants. Symposia include: The molecular basis of facial malformations; Mechanisms and consequences of chromosomal/genetic mosaicism; Primary microcephaly; and much more. Educational sessions include Next-generation sequencing diagnostics; Trinucleotid repeat disorders and more. Plenary sessions include: Targeted pharmacological therapies in genetic disorders (with presentations on Marfan, tuberous sclerosis complex and fragile X); and more.
For further details

11th Conference of the International Association of Bioethics: Bioethics and the Future, and the Future of Bioethics
Date: 26-29 June 2012
Venue: Rotterdam, Netherlands

Featuring the session Rare Diseases and Orphan Drugs: ethical aspects. Key themes include: Public health ethics; Clinical ethics ; Biobanks ; Ethics and research and much more.
For further details

European Working Group on Gaucher Disease Meeting
Date: 28-30 June 2012
Venue: Paris, France

The quality of the scientific content at the EWGGD meetings attracts an increasing number of participants with each edition. Participants are recognized experts in their fields, committed to both clinical and basic science in Gaucher disease. New results from basic science, clinical trials and registries will be announced during the meeting. Updated guidelines for the management of Gaucher disease will be released, taking into account the experience of different teams in various countries. A practical session and workshop, dedicated to nurses and paramedics with the objective of better integrating their crucial role in patient management through medical education, based on new practices such as home therapy, will be held.
For further details

World Federation of Hemophilia World Congress
Date: 8-12 July 2012
Venue: Paris, France

The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
For further details

Retina International World Congress
Date: 14-15 July 2012
Venue: Hamburg, Germany

This congress, held every two years, includes: the latest information on diagnostics, therapy and disease management in diseases such as retinitis pigmentosa, AMD, Usher syndrome, Bardet-Biedl syndrome, Stargardt’s disease, Cone-rod dystrophy, and more; the latest in international research, and much more.
For further details

7th European Elastin Meeting
Date: 1-4 September 2012
Venue: Ghent, Belgium

Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
For further details

First International Symposium on the Ehlers-Danlos Syndrome
Date: 8-11 September 2012
Venue: Ghent, Belgium

Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
For further details

15th biannual Meeting fo the European Society for Immunodeficiencies
Date: 3-6 October 2012
Venue: Florence, Italy

The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects.
For further details

Mechanisms of Intellectual Disability: From Genes to Treatment
Date: 3-7 October 2012
Venue: Roscoff, France

The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID ; and Towards a cure: lessons from animal models.
For further details

3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
Date: 25–26 October 2012
Venue: Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details

The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
Date: 26–27 October 2012
Venue: Ede, Netherlands

Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
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

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

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


Media, Press & Publications

A renowned guide to the medical management of genetic syndromes has been revised and expanded
The Management of Genetic Syndromes (3rd Edition), edited by two experts in the field of medical genetics, has something to offer the primary physician as well as the specialist, the medical student, and support care givers. The illustrated text, organised in an A-Z format encompassing some 60 rare genetic disorders, provides detailed diagnostic and molecular information, including differential diagnoses and genetic counselling considerations. A clinical description and discussion of disease aetiology, pathogenesis and genetics for each disease is provided. As rare diseases and syndromes are frequently multisystemic disorders, specific information on each particular disease manifestation, including evaluation criteria and various treatment and management strategies, is offered. For each disease, a list of resources is provided for patients and families, as well as a list of relevant references from the scientific literature for the professional. Each chapter is produced by an expert on the disorder presented.
Title: The Management of Genetic Syndromes (3rd Edition)
Authors: Suzanne B. Cassidy, MD and Judith E. Allanson, MD -Eds.
Publisher: Wiley-Blackwell
ISBN-13: 978-0470191415

An overview of cryoglobulinemias
Read the PubMed abstract
Iron metabolism and iron-overload diseases
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
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

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), Jakub Adamski (Poland), Luis Nunes (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, Torben Gronnebaek, 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)

Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Herwig Jansen (Belgium), 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), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (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), Desirée 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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