8 April 2009 print
Spotlight on...
EU Policy News
Nat Pol News
EU Project
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Grants
Partnersearch, Job Opps
Patients' Associations
What's on?
Press & Publications
Subscribe / Unsubscribe
Archives


 
Spotlight on...
 
Newborn screening for rare diseases in Spain
 
Evolving technology for newborn screening challenges existing programmes and policies
 
The advent of now technologies such as electrospray ionization tandem mass spectrometry (MS/MS) means that newborn screening can now capture many more diseases, including the inherited disorders of intermediary metabolism. However, placing greater importance on the capability of a technology than on the diseases themselves makes it more likely for a now-detectable disorder to be included in a testing panel - regardless of whether treatment exists or not.

These developments, coupled with Spain’s organisation into seventeen autonomous communities, present a challenge when it comes to organising, implementing, regulating, and gathering data for newborn screening programmes in order to ensure that all babies born in Spain receive equitable access to life-saving diagnostics. Dr. Teresa Pampols is a member of the board of directors of AECNE, the Spanish Society for Newborn Screening, in addition to working with the Institut de Bioquímica Clínica’s Servei de Bioquímica y Genètica Molecular at the Hospital Clínic de Barcelona and CIBER de Enfermedades Raras (CIBERER). Here, she has graciously accepted to describe for OrphaNews Europe how newborn screening is organised and implemented in Spain and how the country is addressing the challenges brought about by evolving technology:




Historical Background
Blood spot newborn screening (NBS) in Spain dates from 1968–1969, at which time Pr. Federico Mayor-Zaragoza at Granada University and Dr. Joan Sabater at the Institut de Bioquímica Clínica in Barcelona began offering NBS for phenylketonuria (PKU) and other amino acid disorders using existing paper chromatography and thin layer chromatography methods. Other centres soon followed this initiative and in 1977 the National Council of the “Real Patronato de Educación y Atencion a Deficientes”, under the presidency of Her Majesty Queen Sofia, launched the Plan Nacional Prevencion Subnormalidad, which included newborn screening amongst other actions. After several organisational changes, the i>Plan Nacional Prevencion Subnormalidad was assumed and financed by the Ministry of Health and by 1980 there were 10 centres covering 25% of Spanish newborns. In 1983, after large political upheavals, the Spanish State settled into its present structure with 17 Autonomous Communities. Many competences, including Health, transferred to the corresponding Autonomous Governments. This fact is relevant for NBS, because it means that each Community has the authority to take its own decision of which diseases to include in its newborn screening programme. This organisation contributes to understanding the present situation.

Current Scenario
Spain has a population of approximately 46 million people, with nearly 500,000 births annually. NBS has never been mandatory, but in the 17 Autonomous Communities it is developed as a Public Health Programme that is universally and fairly offered to all the target population and has a compliance of practically 100%.

The newborn screening sample is taken in the maternity centres prior to discharge, most often after 48 hours of life. Early discharge is not frequent, but could increase; thus there is a field in the NBS cards for the registration of the number of hours of life, in order to interpret results and request a new sample when necessary. There is an exception in this procedure: six centres takes two samples - from cord blood at birth or by heel prick at 48 hours – to screen for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH) and sickle cell disease (SC) where they are included in the programme- as well as a second sample after 5 days of life for PKU. There are 21 centres/screening laboratories in Spain, all of which are public. This means that some Communities have more than one laboratory. Four laboratories analyse between 50,000-100,000 newborns per year; another four analyse between 20,000 and 50,000; and the rest analyse less than 20,000; six of these analyse less than 10,000 per year.

Screening for PKU and CH is universal. According to data from 2007, CAH is included in five programmes, representing a coverage of 25% of Spanish newborns; cystic fibrosis (CF) is included in seven programmes, covering 35% of the newborn population; SC is present in two programmes covering 17.5% of newborns; biotinidase deficiency and galactosaemia are available in one programme covering 4.4% of newborns and medium chain acyl-CoA dehydrogenase deficiency (MCAD) is offered in three programmes, covering 11.2% of newborns.

There are still some centres that historically continue looking for amino acid disorders in blood (six laboratories) and in urine (three laboratories), in an open manner using thin layer chromatography or other qualitative methods. It deserves to be mentioned that interest for the introduction of CF and SC is clearly growing; there is less enthusiasm for CAH, biotinidase deficiency and galactosemia. Indeed, in the case of the latter, Spanish paediatricians in general hold the opinion that the classic form is recognisable in time through clinical signs and that NSC is therefore not necessary. The expansion of newborn screening to the group of disorders of intermediary metabolism detectable by MS/MS merits specific mention and will be commented on later in this article.

The methodology used in the laboratories also illustrates disparity. Of the 20 laboratories testing for CH by measuring TSH, twenty use DELFIA® and one uses ELISA; some centres measure T4 in the same sample when TSH exceeds the cut-off value, while two centres systematically measure TSH and T4 in all the newborns. Hiperphenilalaninemias are detected via fluorimetry in 16 laboratories, MS/MS in three, enzymatically in one, and by thin layer chromatography in one. CAH is detected measuring 17-OH-P with DELFIA®. CF detection is also heterogeneous due to the adoption of different algorithms; basically the first test measures IRT via DELFIA® or ELISA, followed by DNA (30 mutations) and/or a second IRT at 20-30 days of life and posterior DNA.


The laboratories are deeply concerned by quality assurance issues; all participate in the External Quality Assessment (proficiency testing) programme for CH and PKU organised by AECNE, the Spanish Society for Newborn Screening. The majority also participate in international controls based in Germany, the UK and via the Centers for Disease Control in the USA, that control for specific parameters. Nevertheless, very few laboratories are certificated under the Norm UNE-EN ISO 9001 and only one has the accreditation under the Norm UNE-EN-ISO 15.189.

The expansion of newborn screening to inherited disorders of intermediary metabolism via MS/MS
Electrospray ionization tandem mass spectrometry technology (MS/MS) is used in Spain, along with a broad number of techniques, in certain Biochemical Genetics Laboratories, for the diagnosis of inherited metabolic disorders in symptomatic patients. Two of these laboratories have attained the criteria of excellence to be partners with (CIBERER), the Biomedical Network Research Centre for Rare Diseases. The differential diagnosis and study of positive cases proceeding from NBS, including gene studies, can therefore be validated. The use of ESI-MS/MS for newborn screening began in Galicia in 2001. Following a few years of dormancy, its use is now rapidly spreading. In 2007 three Autonomous Communities reported data (Galicia, Murcia and the Basque Country), in 2008 there will be four, with the addition of Andalucía. Zaragoza, Extremadura and probably some other Autonomous Communities will soon follow.

With MS/MS, Spanish screening centres began for the first time to use the name of the technology instead of the names of the diseases, breaking an important principle that must be restored. Evolving technology will scientifically and economically challenge existing programmes. The focus must be firmly on the diseases and it is indispensable that the criteria for inclusion in the NBS panel is based on sound principles and medicine-based evidence of the benefits for affected individuals, cost balanced, and with absolute control of incidental collateral damage, such as false positives.

Placing more weight on the capability of a technology than on the diseases makes it more likely for a disease to be included in a testing panel if it can be detected by the technology, regardless of whether the natural history of the disease is understood or whether treatment is limited or even non-existent.
Read the full article on newborn screening in Spain
 


 
EU Policy News
 
EMEA
 
EMEA 2009 Work Programme reveals sustained support and new mechanisms fostering orphan drug development
 
The European Medicines Agency (EMEA) released its Work Programme for 2009 at the end of February. Adopted in late December 2008, the 2009 Work Programme outlines its strategic and budgetary agenda for the year. Section 2.1 is dedicated to Orphan Medicinal Products. Amongst new issues figuring in this year’s work programme is the anticipated increase in the volume of applications stemming from three sources: the Paediatric Regulation; the Advanced Therapies Regulation; and the implementation of a common application with the FDA. Another issue revolves around the “growing complexity of review of designation criteria prior to marketing authorisation” featuring an increasing number of challenges to orphan market exclusivity by companies offering competitor products. The Work Programme estimates some 130 products will receive designation this year, revealing a sustained, slightly increasing volume (119 were designated in 2008). Amongst the objectives and initiatives for the year are the maintenance of core activities; a review of the EMEA/FDA common application; the initiation of EMEA/FDA annual reporting activities for orphan products; further development of contacts with non-EU regulatory agencies regarding international collaboration; and the implementation of EC guideline on Article 8(2) of Regulation (EC) No 141/2000 concerning the orphan product market exclusivity period. A pilot project planned for 2009 will “assess the evidence base for orphan drugs” in collaboration with the Belgian Healthcare Knowledge Centre. In terms of Scientific Advice and Protocol Assistance, the EMEA anticipates growth in the number of applications, “with a steady progression of questions on alternative clinical-trial designs; comparability; biomarkers; advanced therapies; and conditional marketing authorisation. There will be an increased number of scientific-advice requests in combined areas in both adult and paediatric development”. The volume of applications from SMEs is also expected to increase.
Consult the 2009 Work Programme

 


 
National & International Policy Developments
 
Other European news
 
Nowgen’s creative sculpture helps bring rare diseases into the public eye
 

Rosie Scott and Professor Donnai with the Our Kid sculpture
Nowgen the Manchester, England-based centre of expertise in genetics in healthcare has been running a campaign to increase public awareness of healthcare research. The centrepiece of this project is Our Kid, a two-meter high steel anthropomorphic sculpture embedded with digital screens that display the history, present, and future expectations for healthcare. Featuring on one of the screens is an expert describing her research of rare neurodevelopmental disorder Williams syndrome, caused by a deletion of about 26 genes on chromosome 7. Dian Donnai, Nowgen executive director and Professor of Medical Genetics at The University of Manchester, pinpoints the main challenges in researching rare diseases, and describes how many problems are being resolved via new technologies, scientific knowledge, patient support, public awareness, and collaboration between support groups and the public and private health sectors. Pr. Donnai foresees a promising future for the treatment of rare diseases through increasing understanding of the causes and consequences of rare diseases and through targeting solutions to deal with major complications. For Our Kid, Nowgen engaged fifty teenagers, including Rosie Scott pictured above, who worked closely with experts to produce short films looking to the future of healthcare. More than sixty researchers also contributed to the project, providing information on healthcare research over the last 60 years. Our Kid has already been displayed to over 140,000 people and has generated a significant amount of media coverage, including articles in The British Medical Association News, The British Medical Journal, First News, Manchester Evening News, The Guardian and Big Issue. It has also been reported in regional television news programming. The sculpture has been on display at various locations throughout the city and is presently located at the Central Manchester University Hospitals NHS Foundation Trust.

 
New online forum for genetic-testing professionals helps facilitate informed decision-making for diagnostic equipment purchasin
 
During these economically strapped times, the National Genetics Reference Laboratories in the UK have launched an innovative free online diagnostic technology forum destined for professionals in the field of genetic testing. Answering a demand for the timely sharing of laboratory technology experiences, LabSight will help facilitate “well informed investments in the acquisition of equipment”. Professionals internationally can share in-house assessments of diagnostic technologies ranging from diagnostic kits and sequencing platforms to analysis software. LabSight was developed as a non-profit tool in response to a lack of reliable comparative reporting on new technologies. The forum will serve as an online resource for documentation, and will also list upcoming events and calls for collaborations. With rare disease research and diagnostics particularly vulnerable to limited budgets and resources, LabSight offers a money-saving tool helping professionals find the best technology for their diagnostic laboratories. For more information and registration, visit LabSight online.


 
TREAT-NMD Regulatory Affairs Database keeps track of clinical trial legislation across Europe
 

TREAT-NMD is a network of excellence for rare inherited neuromuscular diseases. One activity of the network is the Regulatory Affairs Database. A resource for planning mono- or multi-centre clinical trials within different European countries established for the purposes of a neuromuscular disease network, the database is of much broader relevance, and the national legislation it contains is applicable to clinical trials for any condition. The database includes information on 11 individual European countries as well as European-level regulations. To guarantee the quality and currency of information, collaboration is being planned with another project, the European Clinical Research Infrastructures Network (ECRIN). The Regulatory Affairs Database is open for public use and can be accessed online.

 
Germany’s First Lady prizes rare disease research
 
An award ceremony organised by the German President of the Republic Horst Köhler and First Lady Eva Luise Köhler, in association with the German Alliance for Rare Diseases (ACHSE), the country’s umbrella organisation of patient support groups, was held in honour of the Second International Rare Diseases Day. The award is intended to honour outstanding research in the field of rare diseases in Germany. This year’s recipient was Pr Leena Bruckner-Tuderman, the leader of the centre of reference for rare disease epidermolysis bullosa, located in Freiburg. First Lady Eva Luise Köhler is Patron of ACHSE and has repeatedly demonstrated her dedication to the rare disease cause. This particular ceremony closed with a presentation of preliminary results gleaned from a survey performed in the previous months gathering the opinion of stakeholders regarding possible actions in the field of rare diseases and orphan drugs in Germany. The final report is expected in June.
 


 
EU Project Follow-up
 
ECORN-CF: results from the quality roundtable now online
 
The fourth newsletter of the European Centers of Reference Network for Cystic Fibrosis (ECORN-CF), an innovative EU-funded shared-knowledge database that addresses patient and professional queries concerning cystic fibrosis, was released in March. The newsletter contains results from a roundtable on quality during which an evaluation was presented of the communications issued by participating countries in response to questions posted to the site by professionals and patients. The evaluation sought to measure the adherence to guidelines, accuracy, thoroughness, comprehensibility and other qualities in the answers provided. Of the five countries included in the evaluation, three received an overall “good” mean for their content and quality. Two others received a "satisfactory" evaluation, with room for improvement. The latest issue of the newsletter also contains a report on a consensus meeting that reviewed how to best provide transfer of knowledge and expertise throughout Europe to guarantee the same level of expert advice in all EU countries, an account of the 3rd European Cystic Fibrosis Awareness Day, and a list of relevant forthcoming events.
Consult the ECORN-CF newsletter

 


 
Orphanet News
 
Orphanet Journal of Rare Diseases has made an impact in just three years
 

In March 2006, Orphanet launched an open-access, peer-reviewed online journal: the Orphanet Journal of Rare Diseases (OJRD). Publishing high-quality reviews solicited from experts in the field and state of the art developments in the area of rare diseases and orphan drugs, the OJRD aims to contribute to the optimised diagnosis and improved care of patients affected by rare diseases. The history of OJRD is short but intense. In three years, the journal has published more than 150 articles, 85% of which are review articles on rare diseases with the remaining 15% research articles reporting diagnostic and management findings. Some 30% of OJRD’s articles have been designated by the publisher as ‘highly accessed’, attracting hundreds of readers in the first few weeks after publication. In the last month alone, articles in the OJRD were accessed over 30,000 times from the journal’s website, in addition to accessibility via the PubMed Central archive. A list of the most-accessed articles has been created, including review articles that have attracted the attention of thousands of readers. These numbers demonstrate the continuing need for comprehensive information on rare diseases, which can be scarce and difficult to access. OJRD articles are immediately indexed by PubMed and PubMed Central (the world’s largest digital archive of freely available full-text biomedical and life science journal literature). One year after its launch, the OJRD was accepted for tracking by Medline and in 2008 received its first Impact Factor of 1.30. OJRD has also been accepted for evaluation by Index Copernicus (a journal indexing, ranking and abstracting site). Last week, the journal received its first evaluation of ICV=19.21 (a good position compared to leading journals in the genetics field; for example, the European Journal of Human Genetics has a current evaluation of ICV=44.11).These achievements have added significantly to the reputation of OJRD, and help to further establish it within the field. OJRD is also tracked by Scopus and Google Scholar. The speed with which OJRD established its high standing in the field demonstrates both the need for information on rare diseases and the power of open access. In addition to a prominent international Editorial board, more than 300 experts from different countries contribute their expertise, time and energy to the peer-review, a process of crucial importance that has direct impact on the quality of the Journal. Thus OJRD includes here a list of the reviewers accompanied by a big THANK YOU to all the experts who have reviewed manuscripts submitted to OJRD over the past three years. Orphanet and the OJRD gratefully acknowledge the thoughtful and constructive comments and suggestions that have been made to improve papers prior to publication. Many of the reviewers listed below reviewed more than one paper during this period. If, without intention, any expert is missed from this list, sincere apologies are offered.
Consult the list of OJRD reviewers

 
New Texts
 
New Orphanet Journal of Rare Diseases publications
 
Hereditary haemorrhagic telangiectasia: a clinical and scientific review (published in the European Journal of Human Genetics, in association with Orphanet)
 


 
New Syndromes
 
A new syndrome of exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis
 
Th authors describe four children from two consanguineous families with congenital exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis. A mutation in the COX4I2 gene was identified. Mutation analysis of COX4I2 is warranted in patients with malabsorption due to exocrine pancreatic insufficiency and in patients with dyserythropoeitic anemia.
Read the PubMed abstract

 
Am J Hum Genet ; 412-417 ; March 2009
 
A novel severe dominant childhood muscular dystrophy caused by a mutation in the BAG3 gene
 
Myofibrillar myopathies (MFMs) are morphologically distinct but genetically heterogeneous muscular dystrophies in which the disintegration of Z disks and then of myofibrils is followed by ectopic accumulation of multiple proteins. Cardiomyopathy, neuropathy, and dominant inheritance are frequent associated features. The authors describe three patients presenting in childhood, with progressive limb and axial muscle weakness, and development of cardiomyopathy and severe respiratory insufficiency in their teens; two had rigid spines, and one a peripheral neuropathy. Electron microscopy showed disintegration of Z disks, extensive accumulation of granular debris and larger inclusions, and apoptosis of 8% of the nuclei. The authors identified a mutation in the BAG3 gene at cause for this novel severe autosomal dominant childhood muscular dystrophy.
Read the PubMed abstract

 
Ann Neurol ; 83-89 ; January 2009
 


 
New Genes
 
Leucocyte adhesion deficiency type III: KINDLIN3 mutations explain the absence of integrin activation
 
Leucocyte adhesion deficiency (LAD) is characterised by defects in the leucocyte adhesion process, marked leukocytosis and recurrent infections. These molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. Patients with LAD type III have severe bleeding. LAD III involves a general defect in integrin activation. Two independent research studies published in Nature Medicine have identified mutations in the gene KINDLIN3. Another study shows that loss of Kindlin-3 function is sufficient to cause a LAD-III-like phenotype in mice.
Read the first PubMed abstract
Read the second PubMed abstract
Read the third PubMed abstract

 
To read more about "Leukocyte adhesion deficiency"

 
Nature Medicine ; 300-305 ; March 2009
Nature Medicine ; 306-312 ; March 2009
Nature Medicine ; 313-318 ; March 2009

 
Amyotrophic lateral sclerosis: a new gene identified in the familial form of the disease
 
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. Two separate studies identify mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene involved in the regulation of transcription and RNA splicing and transport; it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration.
Read the first PubMed abstract
Read the second PubMed abstract

 
To read more about "Amyotrophic lateral sclerosis"

 
Science ; 1205-1208 ; February 2009
Science ; 1208-1211 ; February 2009

 
Familial hypogonadotropic hypogonadism: TAC3 and TACR3 mutations reveal a role for Neurokinin B and its receptor
 
The timely secretion of gonadal sex steroids is essential for the initiation of puberty, the postpubertal maintenance of secondary sexual characteristics and the normal perinatal development of male external genitalia. Normal gonadal steroid production requires the actions of the pituitary-derived gonadotropins, luteinizing hormone and follicle-stimulating hormone. The authors report four human pedigrees with severe congenital gonadotropin deficiency and pubertal failure in which all affected individuals are homozygous for loss-of-function mutations in TAC3 (encoding Neurokinin B) or its receptor TACR3 (encoding NK3R). Neurokinin B, a member of the substance P-related tachykinin family, is known to be highly expressed in hypothalamic neurons that also express kisspeptin, a recently identified regulator of gonadotropin-releasing hormone secretion.
Read the PubMed abstract

 
To read more about "Hypogonadism, hypogonadotropic, congenital, normosmic"

 
Nat Genet ; 354-358 ; March 2009
 
DYT6 primary torsion dystonia: mutations in the THAP1 gene are responsible
 
The authors report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia). Another mutation in a German family with primary torsion dystonia suggests that THAP1 mutations also cause dystonia in other ancestry groups.
Read the PubMed abstract

 
To read more about "Dystonia, primary, DYT6 type"

 
Nature Genetics ; 286-288 ; March 2009
 
Leber congenital amaurosis and juvenile retinitis pigmentosa: mutations in SPATA7 at cause
 
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. The authors found a homozygous nonsense mutation in the SPATA7 gene in patients from distinct populations.
Read the PubMed abstract

 
To read more about "Leber amaurosis, congenital"
To read more about "Retinitis pigmentosa"

 
Am J Hum Genet ; 380-387 ; March 2009
 
Spondylometaphyseal dysplasia: TRPV4 mutations produce the Kozlowski type and metatropic dysplasia
 
The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMD Kozlowski type (SMDK) is a well-defined autosomal-dominant SMD characterised by significant scoliosis and mild metaphyseal abnormalities in the pelvis. The authors demonstrate that mutations in TRPV4 produce a phenotypic spectrum of skeletal dysplasias from the mild autosomal-dominant brachyolmia to SMDK to autosomal-dominant metatropic dysplasia, suggesting that these disorders should be grouped into a new bone dysplasia family.
Read the PubMed abstract

 
To read more about "Spondylometaphyseal dysplasia"
To read more about "Metatropic dwarfism"

 
Am J Hum Genet ; 307-315 ; March 2009
 


 
Research in Action
 
Clinical Research
 
Spermatogenesis: complete deletion of USP9Y
 
Deletions in the azoospermia factor region AZFa on the human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific peptidase 9, Y-linked gene USP9Y have been implicated in infertility associated with oligospermia and azoospermia. The authors have characterised in detail a deletion in AZFa that results in an absence of USP9Y in a normospermic man and his brother and father. The association of this large deletion with normal fertility shows that USP9Y, hitherto considered a candidate gene for infertility and azoospermia, does not have a key role in male reproduction. These results suggest that it may not be necessary to consider USP9Y when screening the Y chromosome of infertile or subfertile men for microdeletions.
Read the PubMed abstract

 
N Engl J Med ; 881-885 ; 26 February 2009
 
Familial Alzheimer disease: a recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis
 
Beta-amyloid precursor protein (APP) mutations cause familial Alzheimer disease with nearly complete penetrance. The authors found an APP mutation that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced beta-amyloid (Abeta) production and formation of amyloid fibrils in vitro. The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer disease.
Read the PubMed abstract

 
To read more about "Alzheimer disease, familial"

 
Science ; 1473-1477 ; 13 March 2009
 
Mitochondrial disorders: glutathione deficiency and hypocitrullinemia are associated
 
Disorders affecting mitochondria, including those that directly affect the respiratory chain function or result from abnormalities in branched amino acid metabolism (organic acidemias), have been shown to be associated with impaired redox balance. Since the glutathione (iGSH) system provides the main protection against oxidative damage, the authors hypothesised that untreated oxidative stress in individuals with mitochondrial dysfunction would result in chronic iGSH deficiency. They demonstrate that measurements of iGSH in leukocytes may be a particularly useful biomarker to detect redox imbalance in mitochondrial disorders and organic acidemias, thus providing a relatively non-invasive means to monitor disease status and response to therapies. Furthermore, antioxidant therapy may be useful for relieving the chronic oxidative stress that otherwise occurs in patients with mitochondrial dysfunction.
Read the PubMed abstract

 
Proc Natl Acad Sci USA ; 3941-3945 ; 10 March 2009
 
Bullous pemphigoid: laminin gamma1 is the autoantigen for patients with anti-p200 pemphigoid
 
Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis, with an estimated prevalence of 1/40,000. Anti-p200 pemphigoid has been characterised by autoantibodies to an unidentified 200-kDa protein (p200) of the dermal-epidermal junction. The objective of this study was to identify p200. The authors suggest that laminin gamma1 is the autoantigen for patients with anti-p200 pemphigoid. The autoantibodies may specifically recognise dermal laminin gamma1 with unique posttranslational modifications.
Read the PubMed abstract

 
To read more about "Bullous pemphigoid"

 
Proc Natl Acad Sci USA ; 2800-2805 ; 24 February 2009
 
Immune thrombocytopenic purpura: standardization of terminology, definitions and outcome criteria in of adults and children
 
Diagnosis and management of immune thrombocytopenic purpura (ITP) remain largely dependent on clinical expertise and observations more than on evidence derived from clinical trials of high scientific quality. To overcome the present heterogeneity, an International Working Group of recognised expert clinicians convened to define standard terminology and definitions for primary ITP and its different phases and criteria for the grading of severity, and clinically meaningful outcomes and response. These consensus criteria and definitions could be used by investigational clinical trials or cohort studies. Adoption of these recommendations would serve to improve communication among investigators, to enhance comparability among clinical trials, to facilitate meta-analyses and development of therapeutic guidelines, and to provide a standardized framework for regulatory agencies.
Read the PubMed abstract

 
To read more about "Thrombocytopenic purpura, autoimmune"

 
Blood ; 2386-2393 ; 12 March 2009
 
Churg-Strauss syndrome, Wegener granulomatosis, polyarteritis nodosa and microscopic polyangiitis: a retrospective study
 
To determine the frequency and risk factors of venous thromboembolic events (VTE) in Wegener granulomatosis (WG), microscopic polyangiitis (MPA), Churg-Strauss syndrome (CSS) and polyarteritis nodosa (PAN), retrospective, systematic analysis and comparisons were made between the characteristics of patients in the VTE group and non-VTE group. 1130 patients with WG, MPA, CSS or PAN were identified from the French Vasculitis Study Group cohort. The results suggest that, like WG and MPA, patients with CSS are at a greater risk of VTE than those with PAN. The reasons for this difference remain to be elucidated.
Read the PubMed abstract

 
To read more about "Churg-Strauss syndrome"
To read more about "Wegener granulomatosis"
To read more about "Microscopic polyangiitis"
To read more about "Polyarteritis nodosa"

 
Ann Rheum Dis ; 564-567 ; April 2009
 
Pierre Robin sequence: highly conserved non-coding elements on either side of SOX9 are associated
 
Pierre Robin sequence (PRS) is an important subgroup of cleft palate. The authors show that some cases of PRS may result from developmental misexpression of the gene SOX9 due to disruption of very-long-range cis-regulatory elements.
Read the PubMed abstract

 
To read more about "Pierre Robin sequence, isolated"

 
Nat Genet ; 359-364 ; March 2009
 
Huntington disease: CAG expansion in the disease gene is associated with a specific and targetable predisposing haplogroup
 
Huntington disease (HD) is an autosomal-dominant disorder that results from >or=36 CAG repeats in the HTT gene. Approximately 10% of patients inherit a chromosome that underwent CAG expansion from an unaffected parent with <36 CAG repeats. This study is a comprehensive analysis of genetic diversity in HTT and reveals that HD patients of European origin have a significant enrichment of a specific set of 22 tagging single nucleotide polymorphisms (SNPs) that constitute a single haplogroup. Importantly, the same haplogroup is also significantly enriched in individuals with 27-35 CAG repeats, who are unaffected by the disease, but have increased CAG tract sizes relative to the general population. The strong association between specific SNP alleles and CAG expansion also provides an opportunity of personalized therapeutics in HD where the clinical development of only a small number of allele-specific targets may be sufficient to treat up to 88% of the HD patient population.
Read the PubMed abstract

 
To read more about "Huntington disease"

 
Am J Hum Genet ; 351-366 ; March 2009
 
Inherited mitochondrial optic neuropathies: from epidemiology to treatment strategies
 
Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA) are the two most common inherited optic neuropathies and they result in significant visual morbidity among young adults. Both disorders are the result of mitochondrial dysfunction: LHON from primary mitochondrial DNA (mtDNA) mutations affecting the respiratory chain complexes; and the majority of DOA families have mutations in the OPA1 gene, which codes for an inner mitochondrial membrane protein critical for mtDNA maintenance and oxidative phosphorylation. The selective vulnerability of retinal ganglion cells (RGCs) is a key pathological feature and understanding the fundamental mechanisms that underlie RGC loss in these disorders is a prerequisite for the development of effective therapeutic strategies which are currently limited.
Read the PubMed abstract

 
To read more about "Leber hereditary optic neuropathy"
To read more about "Autosomal dominant optic atrophy, OPA1 type"
To read more about "Autosomal dominant optic atrophy, non-OPA1 type"

 
J Med Genet ; 145-158 ; March 2009
 
Rare monogenetic syndromes in rheumatology practice
 
The EULAR Executive Committee defined eight overall objectives for EULAR to achieve by 2012. The first of these objectives is to strengthen activities in areas that are currently less prioritized, such as non-inflammatory and orphan diseases. This study aims to increase awareness of rheumatologists towards rare hereditary musculoskeletal disorders, by describing their genetics, pathogenesis, and typical clinical and radiological features. The authors show that rare hereditary musculoskeletal disorders occur in a routine rheumatological setting and that rheumatologists should know the clinical and radiological features of these diseases in order to adequately counsel the patient.
Read the PubMed abstract

 
Clin Rheumatol ; Epub ahead of print ; 18 February 2009
 
Barrett oesophagus: a review of the disease and its treatment options
 
Barrett oesophagus is a metaplastic change of the lining of the oesophagus, such that the normal squamous epithelium is replaced by specialised or intestinalised columnar epithelium. The disorder seems to be a complication of chronic gastro-oesophageal reflux disease, although asymptomatic individuals might also be affected, and it is a risk factor for the development of oesophageal adenocarcinoma, a cancer with rapidly increasing incidence in developed societies. The authors review the presentation, epidemiology and risk factors for this condition, discuss the molecular changes necessary for the development of Barrett oesophagus and its progression to cancer, and new strides in both the endoscopic detection of the lesion and the treatment of dysplastic disease.
Read the PubMed abstract

 
To read more about "Barrett esophagus"

 
Lancet ; 850-861 ; 7 March 2009
 
Therapeutic Approaches
 
Duchenne muscular dystrophy: hypernitrosylated ryanodine receptor calcium release channels are leaky
 
Duchenne muscular dystrophy is characterised by progressive muscle weakness and early death resulting from dystrophin deficiency. Loss of dystrophin results in disruption of a large dystrophin glycoprotein complex, leading to pathological calcium (Ca2+)-dependent signals that damage muscle cells. The authors have identified a structural and functional defect in the ryanodine receptor (RyR1), a sarcoplasmic reticulum Ca2+ release channel, in the mdx mouse model of muscular dystrophy that contributes to altered Ca2+ homeostasis in dystrophic muscles. On the basis of these findings, they propose that sarcoplasmic reticulum Ca2+ leak via RyR1 due to S-nitrosylation of the channel and calstabin-1 depletion contributes to muscle weakness in muscular dystrophy, and that preventing the RyR1-mediated sarcoplasmic reticulum Ca2+ leak may provide a new therapeutic approach.
Read the PubMed abstract

 
To read more about "Muscular dystrophy, Duchenne type"

 
Nat Med ; 325-330 ; March 2009
 
Diagnostic Approaches
 
Arrhythmogenic right ventricular cardiomyopathy: a new diagnostic test
 
The diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging because the clinical presentation is highly variable and genetic penetrance is often low. To determine whether a change in the distribution of desmosomal proteins can be used as a sensitive and specific diagnostic test for ARVC, the authors performed immunohistochemical analysis of human myocardial samples. They found that routine immunohistochemical analysis of a conventional endomyocardial-biopsy sample appears to be a highly sensitive and specific diagnostic test for ARVC.
Read the PubMed abstract

 
To read more about "Arrhythmogenic right ventricular dysplasia"

 
N Engl J Med ; 1075-1084 ; 12 March 2009
 


 
Patient Management and Therapy
 
Kennedy disease: phase 2 trial of leuprorelin shows promise
 
Kennedy disease (also known as spinal and bulbar muscular atrophy) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). Animal studies have shown that the pathogenesis of SBMA is dependent on serum testosterone level. This study evaluated the efficacy and safety of androgen deprivation by leuprorelin acetate in patients. Fifty SBMA patients underwent subcutaneous injections of leuprorelin acetate or placebo in a randomized, placebo-controlled trial for 48 weeks, followed by an open-label trial for an additional 96 weeks, in which 19 patients of the leuprorelin group and 15 of the placebo group received leuprorelin acetate. The patients who did not participate in the open-label trial were also followed up for the 96-week period. The results suggest that administration of leuprorelin acetate suppresses the deterioration of neuromuscular impairment in SBMA by inhibiting the toxic accumulation of mutant AR. The results of this phase 2 trial support the start of large-scale clinical trials of androgen deprivation for Kennedy disease.
Read the PubMed abstract

 
To read more about "Kennedy disease"

 
Ann Neurol ; 140-150 ; February 2009
 
Paediatric ependymoma: a prospective study of conformal radiotherapy after surgery in patients under three years of age
 
Therapy for ependymoma includes aggressive surgical intervention and radiotherapy administered by use of methods that keep the risk of side-effects to a minimum. The authors extended this treatment approach to include children under the age of 3 years with the aim of improving tumour control. Between 1997 and 2007, 153 paediatric patients (median age 2.9 years) with localised ependymoma were treated. Patients received conformal radiotherapy after definitive surgery. After a median follow-up of 5.3 years, 23 patients had died and tumour progression noted in 36. 7-year local control, EFS, and overall survival were 87.3%, 69.1%, and 81.0%, respectively. The authors conclude that treatment of ependymoma should include surgery with the aim of gross-total resection and conformal, high-dose, postoperative irradiation. Future trials might consider treatment stratification based on sex and age.
Read the PubMed abstract

 
To read more about "Ependymoma"

 
Lancet Oncol ; 258-266 ; March 2009
 
Amyotrophic lateral sclerosis: early treatment with noninvasive positive pressure ventilation prolongs survival
 
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, which rapidly leads to chronic respiratory failure requiring mechanical ventilation. Currently, forced vital capacity (FVC) < 50% is considered a physiologic marker for admitting patients to Noninvasive Positive Pressure Ventilation (NPPV) intervention, although it has been recently shown the median survival of patients with baseline FVC < 75% is much shorter than median survival of patients with baseline FVC > 75%, independent of any treatment. To assess the role of NPPV in improving outcome of ALS, a retrospective analysis was performed to investigate 1 year survival of ALS patients with FVC < 75% and nocturnal respiratory insufficiency, treated with NPPV, compared to a well-matched population of ALS patients, who refused or was intolerant to NPPV. The results demonstrate that early treatment with NPPV prolongs survival and reduces decline of FVC percentage in ALS.
Read the PubMed abstract

 
To read more about "Amyotrophic lateral sclerosis"

 
Orphanet J Rare Dis ; 4:10 ; 10 March 2009
 
Duchenne and Becker muscular dystrophy: adherence to recommendations for cardiac care among female carriers
 
The authors assessed women’s knowledge and heart health behaviours consistent with the American Academy of Pediatrics recommendations for cardiac care among female carriers of Duchenne/Becker muscular dystrophy. They found that more health education efforts are needed for both patients and their providers, to improve adherence to the American Academy of Pediatrics cardiac care guidelines for female Duchenne/Becker muscular dystrophy carriers.
Read the PubMed abstract

 
To read more about "Duchenne and Becker muscular dystrophy"

 
Pediatrics ; e471-475 ; March 2009
 
Gaucher disease: an investigation of plant-derived recombinant human glucocerebrosidase enzyme
 
Gaucher disease is a progressive lysosomal storage disorder caused by the deficiency of glucocerebrosidase, leading to the dysfunction in multiple organ systems. Intravenous enzyme replacement is the accepted standard of treatment. The authors evaluate the safety and pharmacokinetics of a novel human recombinant glucocerebrosidase enzyme expressed in transformed plant cells (prGCD), administered to primates and human subjects. Their studies demonstrate the safety and lack of immunogenicity of prGCD. A phase III clinical trial for prGCD has been FDA-approved and is currently ongoing.
Read the PubMed abstract

 
To read more about "Gaucher disease"

 
PLoS ONE ; e4792 ; 11 March 2009
 
Ataxia telangiectasia: donor-derived brain tumour following neural stem cell transplantation in a patient
 
A boy with ataxia telangiectasia (AT) was treated with intracerebellar and intrathecal injection of human foetal neural stem cells. Four years after the first treatment he was diagnosed with a multifocal brain tumour. The biopsied tumor was diagnosed as a glioneuronal neoplasm. Molecular and cytogenetic studies showed that the tumour was of nonhost origin suggesting it was derived from the transplanted neural stem cells. The findings here suggest that neuronal stem/progenitor cells may be involved in gliomagenesis and provide the first example of a donor-derived brain tumour.
Read the PubMed abstract

 
To read more about "Ataxia-telangiectasia"

 
PLoS Med ; e1000029 ; 17 February 2009
 
Paroxysmal nocturnal haemoglobinuria: two years after eculizumab authorisation
 
The intravascular haemolysis that is the clinical hallmark of paroxysmal nocturnal haemoglobinuria (PNH) is a consequence of deficiency of the complement inhibitory proteins decay accelerating factor and membrane inhibitor of reactive lysis. Eculizumab is a humanised monoclonal antibody that binds and prevents activation of complement C5 and the subsequent formation of the cytolytic membrane attack complex of complement. Eculizumab, which received EMEA marketing authorisation for PNH in June 2007, inhibits the intravascular haemolysis of PNH, reduces transfusion requirements, stabilises haemoglobin concentration, and improves quality of life. Although chronic treatment with eculizumab increases the risk of infections with Neisseria meningitides, the drug is generally safe and well tolerated. However, the authors point out that as is the case with other drugs developed for treatment of ultra-orphan diseases, eculizumab is expensive and treatment must continue indefinitely.
Read the PubMed abstract

 
To read more about "Paroxysmal nocturnal hemoglobinuria"

 
Lancet ; 759-767 ; 28 February 2009
 


 
Orphan Drugs
 
Thirteen medicinal products receive EMEA orphan designation in February and March
 

The COMP (Committee for Orphan Medicinal Products) adopted the following ten positive opinions on orphan medicinal product designation at its March meeting for the treatment of:

- acute intermittent porphyria
- beta-thalassaemia intermedia and major
- glioma (two products)
- traumatic spinal cord injury
- myelodysplastic syndrome
- acute myeloid leukaemia
- acute lymphoblastic leukaemia
- thrombotic thrombocytopenic purpura
- dystrophic epidermolysis bullosa


Prior to this meeting, the Committee adopted three positive opinions on orphan medicinal product designation via written procedure on 9 February 2009 for the treatment of:
- post-polycythemia vera and post-essential thrombocythemia myelofibrosis
- sickle cell disease
- acute myeloid leukaemia
Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

 
CHMP adopts a negative opinion for adult cystic fibrosis treatment
 
The European Medicines Agency’s (EMEA) Committee for Medicinal Products (CHMP) adopted a negative opinion by majority recommending the refusal of a marketing authorisation for Cayston (aztreonam lysine), from Gilead Sciences International Ltd, intended for use in the management of adult cystic fibrosis patients with chronic airway infection caused by pseudomonas aeruginosa bacteria, to improve their pulmonary function and respiratory symptoms. The medicine was designated as an orphan medicine in June 2004. EMEA review began on 26 March 2008, with an active review time of 204 days.


 
Genzyme informs the CHMP that Myozyme is again available
 
The CHMP also reported receiving information on Myozyme from Genzyme regarding the resolution of the supply situation which had led to the temporary treatment recommendations for the adult patients with Pompe disease (see the EMEA press release from January 2009). As the supply of Myozyme has returned to normal, the prescribers were advised to revert to treatment regimens in accordance with the approved Product Information for all patient treatments.
 


 
Grants
 
Spinal muscular atrophy call for proposals
 
SMA Europe: Joint call for projects 2009 is open to any research project aimed at finding a cure or therapy for spinal muscular atrophy (SMA). Priority will be given to projects concentrating on the following aspects: basic research; gene therapy; clinical trials; and drug development. Partner organisations involved in this joint call include AFM (France), DGM-SMA (Germany), Famiglie SMA (Italy), Fundame (Spain), SMA Trust (UK), Jennifer Trust SMA (UK), and VSN (Netherlands).
For further details

 


 
Partnersearch, Job Opportunities
 
Genetics for Patients seeks volunteers to respond to questionnaire
 
Dr Marion McAllister, research fellow at the University of Manchester and the Nowgen Centre for Genetics in Healthcare, is seeking volunteers to respond to a questionnaire designed to measure how people from families affected by genetic conditions may benefit from seeing a geneticist/genetic counsellor or attending a genetics clinic. The questionnaire seeks to capture the good and bad outcomes associated with genetic services by exploring the thoughts, feelings and attitudes of volunteers concerning the condition.
For further details and to access the questionnaire

 


 
News from the Patients' Associations
 
Great expectations: rare chromosomal disorders take centre stage in Sweden and Scotland
 
A new English-language play traces the path of two couples whose babies are born with the same rare chromosomal disoder. Expectations will be playing in Gothenburg, Sweden from 15 April–8 May, before moving on to the Edinburgh festival in August. Written by members of patient support association Unique, the play is intended to raise awareness and enlighten audiences of the rare diseases stemming from chromosome anomalies. Information concerning Unique will also be made available. For further information
 


 
What's on Where?
 
International Society of Neonatal Screening: 6th European Regional Meeting
 
Date: 26-28 April 2009
Venue: Prague, Czech Republic

Will include many interesting and relevant topics, such as Rare diseases and neonatal screening: Consensus building on neonatal screening based on the opinion of European Union patient support groups.
For further details

 
Eurordis Annual Membership Meeting 2009
 
Date: 8-9 May 2009
Venue: Athens, Greece

The Eurordis Annual Membership Meeting, hosted by the Greek Alliance for Rare Diseases (PESPA), provides an opportunity to learn more about National Plans for rare diseases, to meet with other stakeholders, and to participate in lively seminars.
For further details

 
Molecular Mechanisms of Neurodegeneration
 
Date: 8-10 May 2009
Venue: Milan, Italy

Addressing the most important issues involved in protein toxicity in neurons, providing participants with updated information that could be useful to researchers in the field of neurodegenerative disorders.
For further details

 
7th World Congress on Melanoma
 
Date: 12-16 May 2009
Venue: Vienna, Austria

A joint meeting with the 5th Congress of the European Association of Dermato-Oncology. Clinicians and researchers will focus on the state of the art in prevention, recognition, and treatment of cutaneous neoplasms covering melanoma and non melanoma skin cancer as well as lymphomas and rare skin tumours.
For further details

 
Symposium on Standards of Care for Children with Cancer
 
Date: 13 May 2009
Venue: Warsaw, Poland

The results and future possible actions will be discussed following a survey of 25 European countries on state regulations concerning standards of care in paediatric oncology. This survey provides evidence of the disparity in European standards of care and highlight the need for greater attention to be paid towards creating standards in paediatric oncology/haematology wards, particularly in EU member states.
For further details

 
22nd Annual Meeting of the European Musculo-Skeletal Oncology Society
 
Date: 13-16 May 2009
Venue: Stuttgart, Gemany

Including findings and research activities from the Sarcoma Groups of the German Society for Pediatric Oncology and Hematology. Session on rare bone and soft tissue tumours, and on paediatric and adolescent sarcomas.
For further details

 
Conference on Recent Standards in Diagnosis, Treatment and Medical Care for Some Rare Neuromuscular Diseases
 
Date: 21-23 May 2009
Venue: Kharkiv, Ukraine

The agenda will include: Spinal muscular atrophy - modern and newest approaches to diagnostics and treatment; Duchenne muscular dystrophy - modern and newest approaches to diagnostics and treatment; other rare neuromuscular pathologies - latest approaches to diagnostics and treatment; management of respiratory system; orthopaedic aspects; organisation of medical service for rare neuromuscular disorders (diagnosis, registering, conducting of clinical trials and research in compliance with principles of GMP); and more.
For further details

 
12th International Congress on Neuronal Ceroid Lipofuscinoses
 
Date: 3-6 June 2009
Venue: Hamburg, Germany

The aim of this meeting is to facilitate and speed up exchange between expert scientists and physicians, but also to confront young researchers with the challenges of the largest group of degenerative brain diseases in young people.
For further details

 
First International Conference on Hyperphagia
 
4-5 June 2009
Venue: Baltimore, MD, USA

Hyperphagia is the extreme unsatisfied drive to consume food which is a hallmark characteristic of Prader-Will syndrome and several other disorders, including Alstrom syndrome, WAGR syndrome, Fragile X syndrome and Laurence-Moon-Bardet-Biedl syndrome. This conference seeks to explore commonalties among affected rare diseases and open new doors of collaboration.
For further details

 
10th European Symposium: Prevention of Congenital Anomalies
 
Date: 10 June 2009
Venue: Bilbao, Spain

Organised by EUROCAT and the Basque Government’s Ministry of Health, the symposium will share experience on the prevention of congenital anomalies and exhibit advances in prevention in different contexts. The main topics include environmental risk, prenatal diagnosis, and genetic counselling.
For further details

 
The Fourth Eastern European Conference on Rare Diseases and Orphan Drugs
 
Date: 13-14 June 2009
Venue: Plovdiv, Bulgaria

Supported and co-funded by a grant from the European Union, in the framework of the Public Health Programme, this conference presents rare diseases as a common issue at the national and European level requiring an integrated approach involving all stakeholders. Deadline for abstract submission: 20 May 2009
For further details

 
Porphyrins and Porphyrias 2009
 
Date: 14–18 June 2009
Venue: Stockholm, Sweden

The scientific program will cover the latest developments in the field of heme-related disorders. The meeting will include plenary sessions, oral presentations and poster presentations. Contributions will be made from basic scientists, molecular biologists, laboratory and clinical academicians, clinical researchers and physicians working in the field of heme metabolism and heme-related disorders.
For further details

 
EuroGentest symposium
 
Date: 18-19 June 2009
Venue: Leuven, Belgium

Topics include: accreditation according to ISO 15189, accreditation bodies in Europe and the world, External Quality Assessment schemes, IT solutions to support your quality management system, and experiences from people working in an accredited laboratory or preparing for accreditation.
For further details

 
5th International Congress on Shwachman-Diamond Syndrome
 
Date: 19-20 June 2009
Venue: Amsterdam, Netherlands

The 5th International Congress on Shwachman-Diamond Syndrome provides a unique opportunity for clinicians, researchers, and patient organisation representatives from around the world to meet.
For further details

 
Balkan Congress for Rare Diseases
 
Date: 26-27 June 2009
Venue: Cluj-Napoca, Romania

This conference will address issues in diagnosing and managing rare diseases in the region and will explore ways to increase European collaboration.
For further details

 
Treatment Options in Phenylketonuria and Related Pediatric Neurotransmitter Disorders
 
Date: 29 August 2009
Venue: San Diego, California

Key Topics include challenges in the pharmaceutical treatment of PKU and treatment of paediatric neurotransmitter disorders.
For further details

 
Genetics and Genomics of Vascular Disease Workshop
 
Date: 13-16 September 2009
Venue: Hyannis, MA

The programme will present cutting edge research in areas like genome wide association studies in human populations, mouse QTL mapping of vascular phenotypes, and pathogenesis of vascular and developmental diseases using human patients and mouse models.
For further details

 
European Working Group on Rett Syndrome – 2009 Meeting
 
Date: 17-18 September 2009
Venue: Stresa, Italy

An opportunity to discuss Rett syndrome-related science, to find collaborators for grant applications, and to exchange reagents and ideas. Moreover, the close contact with the parents associations should also help to focus better on the scientific problems that need to be resolved to find a cure for patients. Abstract deadline: 15 June 2009.
For further details

 
British Paediatric Neurology Association: Rare Disorders Symposium
 
Date: 29 September 2009
Venue: Harrogate, England

A stand-alone satellite symposium on rare disorders will take place as part of the 8th Paediatric Neurology Conference. Further information to appear shortly.
For further details

 
Fourth International Conference on Birth Defects and Disabilities in the Developing World
 
Date: 4-7 October 2009
Venue: New Delhi, India

The theme of the Fourth International Conference is "Translating Research into Cost-effective Services for the Care and Prevention of Birth Defects, Preterm Birth and Consequent Disabilities". Deadline for submission of abstracts: 15 April, 2009.
For further details

 
Rare Diseases II: Hearing and Sight Loss
 
Date: 25-30 October 2009
Venue: Sant Feliu de Guixols, Spain

A conference of the European Science Foundation. Details to follow.
For further details

 
EPPOSI: 10th Workshop on Partnering for Rare Disease Therapy Development
 
Date: 26-27 October 2009
Venue: Brussels, Belgium

The topic of this year’s workshop of the European Platform for Patients’ Organisations, Science and Industry is 10 years after the adoption of the EU Orphan Medicines Regulation: Where do we go? Three key themes will be addressed: What is the impact of the economic crisis on the field of rare diseases – and what is the vision on further progress in R&D, diagnosis and patient care? Building on the public policy base of the last 10 years: how to advance policies in the next five years? Rare cancers: specific challenges within rare diseases?
For further details

 
TREAT-NMD/NIH International Conference
 
Date: 17-19 Nov 2009
Venue: Brussels, Belgium

The aim of the meeting is to share progress in the area of translational medicine in inherited neuromuscular diseases and set the future collaborative agenda. This conference will build on achievements of the NIH and TREAT-NMD. It will be a highly interactive meeting with a strong focus on the key issues surrounding "trial readiness" in the neuromuscular field.
For further details

 
18th International Workshop on Vascular Anomalies
 
Date: 21-24 April 2010
Venue: Brussels, Belgium

The programme for this workshop will be available soon.
For further details

 


 
Press & Publications
 
The Surgery of Childhood Tumours
 
Up-to-date information on the epidemiology, cytogenetics and molecular biology of childhood tumours, as well as current treatments, integrating surgery, neoadjuvant and adjuvant chemotherapy and radiation therapy. A chapter on counseling reflects the holistic approach presented to treating children with cancer. Written by international authorities on paediatric cancers.

Authors: Carachi, R; Grosfeld, J; Azmy, AF. -Eds
Publisher: Springer, 2008
ISBN: 978-3-540-29733-8

 
ISCN 2009: an International System for Human Cytogenetic Nomenclature (2009)
 
Updates the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research (formerly: Cytogenetics and Cell Genetics) since 1963. Revised and finalised by the ISCN Committee and its advisors at a meeting in Vancouver, B.C., in October 2008, the ISCN 2009 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations.

Authors: Shaffer LG, Slovak ML, Campbell LJ -Eds.
Publisher: A. Karger, 2009
ISBN-13: 978-3805589857

 
Hereditary Gynecologic Cancer: Risk, Prevention and Management
 
A clinician-focused reference addressing the epidemiologic, biological, and clinical issues associated with hereditary gynecological cancers, including in-depth information on Hereditary Breast Ovarian Cancer Syndrome, Lynch, and other syndromes with gynecologic cancer components.

Author: Lu, KH -Ed.
Publisher: Informa HealthCare, 2008
ISBN-13: 978-1420052879

 


 
Orphanews Europe, the newsletter of the Rare Diseases Task Force
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, Catherine Berens, Olaf Bodamer, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Manuel Posada de la Paz, Charlotte Rodwell, Claire Scharf-Kroener, Domenica Taruscio, Paloma Tejada, Aurélie Vandeputte
National Contact Point: Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
For more information on the Rare Diseases Task Force
Orphanet - All rights reserved