3 August 2011 print
EUCERD update
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The FP7 call for proposals opens opportunities for Rare Diseases

The European Commission released on 20 July the content of its new call for proposals which opens several opportunities for Rare Diseases. The complete Work Programme 2012 HEALTH, as well as all relevant information to apply can be found here. The deadline for submitting a letter of intent is 4 October.


EUCERD update
Google Custom Search allows readers to search the archives of OrphaNews

A small but significant change has been made to OrphaNews Europe. Capitalising on feedback from the 2010 Reader Satisfaction Survey, in which over 87% of respondents were in favour of an archive search facility for the newsletter, it is now possible to search the archives of OrphaNews Europe as well as its French-language counterpart, OrphaNews France, from the homepage or from the current issue. This feature, powered by Google™ Custom Search, harnesses the power of Google to create a customised search. The pages of OrphaNews Europe and OrphaNews France are piling up as the years ago by and this welcome new feature will help users to locate desired information on any disease, gene, orphan drug, research project - and all other topics featured in the newsletter - quickly and efficiently.

Happy summer holidays from the European Union Committee of Experts on Rare Diseases

OrphaNews Europe will be back in September... we wish all our readers a very pleasant summer holiday.


Spotlight on...
2010 Annual Report of the European Medicines Agency shows increase in orphan drug designations

The European Medicines Agency (EMA) Management Board adopted the agency’s 2010 Annual Report in late June. The report, which reviews all of the activities of the agency, reveals that in the area of orphan medicinal products, activity remains robust. A total of 174 applications for orphan designation were submitted in 2010 – representing an increase of 6% over the previous year. Of these, the Committee for Orphan Medicinal Products (COMP) adopted positive opinions for 123 applications, of which 66 were indications specifically for paediatric populations. Of the total applications, 78 were made in parallel with the Food and Drug Administration (FDA) in the USA. Oncology indications continue to make up the largest specific disease group (30%) seeking orphan designation, with haematology the next largest (18%).

Six positive opinions were adopted by the Committee for Medicinal Products for Human Use (CHMP) recommending marketing authorisation for orphan-designated products in 2010. Indications include angioedema attacks, Gaucher disease, chronic pulmonary infection due to pseudomonas aeruginosa in cystic fibrosis, idiopathic pulmonary fibrosis, the treatment of inborn errors in primary bile acid synthesis due to enzyme deficiency and chronic lymphocytic leukaemia.

The Annual Report also recaps the activities surrounding the tenth anniversary of the COMP, as well as efforts to increase communication and transparency, and the expanding harmonisation of procedures between Europe and the USA. Scientific Advice requests continued to increase in 2010, with the largest number (over half) relating to Clinical topics, and the remaining requests divided between Quality and Pre-Clinical issues. Protocol Assistance requests for orphan-designated products dipped to 68 for the year, after peaking at 77 requests in 2009.

Other highlights of the report include the adoption of two positive opinions for Compassionate Use; the activities of the Paediatric Committee and the Committee for Advanced Therapies, post-marketing activities, and the EU telematics strategy for pharmaceuticals.
Consult the EMA 2010 Annual Report


EU Policy News
One year later: the incidence of neural tube defects has not declined in Europe

The 19 March 2010 issue of OrphaNews Europe reported on a study depicting the incidence of Neural Tube Defects (NTDs) in certain European Union (EU) Member States. Now, over one year later, the International Federation for Spina Bifida and Hydrocephalus (IF) in collaboration with Bayer Healthcare Pharmaceuticals and under the auspices of the Hungarian presidency of the EU, has issued a new report entitled Act Against Europe’s Most Common Birth Defects: One Year On - Defining Neural Tube Defect Prevention Strategies in Europe. Sadly, the number of pregnancies affected by NTDs has not declined in Europe. While neural tube defects are preventable, enforcing policies to reduce incidence is complex. Women need to increase their intake of folate prior to conception in order to prevent NTDs. Amongst the actions called for in the new report are awareness-raising strategies both for women of childbearing age and the healthcare community; investigating food fortification and other supplementation methods; ensuring that national folic acid recommendations are up-to-date; and exploring ways to raise folate levels prior to conception - whether or not a pregnancy is planned and in the context of existing health inequities.
Consult the 2011 report

European Haemophilia Consortium roundtable raises awareness for women with bleeding disorders

The European Haemophilia Consortium (EHC) held a round table gathering patients, health professionals and political representatives, including Member of European Parliament Anna Záborská, in order to bring attention to women with bleeding disorders, dubbed “the forgotten patients”. While women have a lesser incidence of haemophilia, they are equally as likely as men to suffer from one of the broad family of bleeding disorders, such as von Willebrand disease (vWD), characterised by difficulties related to menstruation, fertility and childbirth in women. Prolonged and heavy menstrual bleeding is one of the most common symptoms for women with von Willebrand Disease, which, according to a press release from the EHC, “… can impact the health, school life, professional life, social and family life of women, resulting in increased anxiety disorder, and a significant loss of quality of life”. As with many other rare conditions, lack of awareness on the part of health providers is a major challenge for women with a bleeding disorder. “The challenge is for women to know what constitutes normal or heavy menstruation and to seek help if needed. Normal basic clotting tests results do not exclude the possibility of an underlying bleeding disorder, and other assessment tools may be useful in helping identifying women with bleeding disorder. More women-focused media attention in particular could take these conditions out of the shadow”. Haemorrhage is a leading cause of death during childbirth, particularly in developing countries. Furthermore, the risk of miscarriage and pregnancy loss is higher for women with bleeding disorders. Specific actions called for include publicity and educational initiatives for both the public and health professionals and promoting research at the EU level.
Learn more

EMA issues first positive opinion for paediatric marketing authorisation
In June, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency’s (EMA) issued its first positive opinion for a paediatric-use marketing authorisation (PUMA) for Buccolam (midazolam) from ViroPharma SPRL, intended to treat prolonged, acute, convulsive seizures in paediatric patients between 3 months and 18 years of age. According to Article 30 of Regulation (EC) No. 1901/2006, paediatric-use marketing authorisations can be granted for medicines which are already authorised, but no longer patented, and which will be exclusively developed for use in children. Such products benefit from 10 years of market protection as an incentive. A paediatric investigation plan (PIP) which sets out the development of the medicine in children and is subject to approval from EMA’s Paediatric Committee (PDCO) is a prerequisite to obtaining a PUMA. The PIP for Buccolam was approved in August 2009.

In an EMA press release, Dr Agnès Saint Raymond, Head of the agency’s Human Medicines Special Areas remarked that “Since the coming into force of the Paediatric Regulation in 2007 companies have given too little attention to the incentives for paediatric-use marketing authorisations. I am pleased to see that ViroPharma SPRL has dedicated its resources to conduct specific paediatric studies and to develop a paediatric formulation for all paediatric age groups from 3 months to 18 years of age in acute seizures, a disease that affects children and the elderly”. Many authorised medicines have not been studied adequately in children. The dedicated development of established medicines for children ensures that adequate information on the efficacy and the safety of a medicine is established and the correct dose and appropriate pharmaceutical form can be prescribed. To date, 26 applications for PIPs for PUMAs have been received and seven opinions have been issued by the PDCO. A large majority of rare diseases affect paediatric populations.
Learn more about the EMA’s Paediatric Committee

EMA organises workshop on advanced-therapy medicines
The European Medicines Agency has announced that registration is officially open for a workshop on advanced therapies, including gene- and cell-based treatments, taking place in Brighton, England on 27 October. The workshop, organised by the Committee for Advanced Therapies, is intended to explore topics such as translating academic research into commercial products and navigating the regulatory pathways to authorisations. Hosted by the European Society for Gene and Cell Therapy, speakers from both the EMA and the FDA will be in attendance.
Learn more

Comments sought on paper considering genomic biomarkers in relation to patient selection and trial methodology
The European Medicines Agency has released a draft of the Reflection Paper on Methodological Issues Associated with Pharmacogenomic Biomarkers in Relation to Clinical Development and Patient Selection for consultation. Interested parties are invited to comment on this draft paper by 25 November 2011.
Learn more


National & International Policy Developments
Buenas noticias from Argentina and Peru: new rare disease laws legislated in both countries
Argentina has adopted its first national law in the realm of rare diseases. Both the Senate and the House representatives of the Argentinean Parliament endorsed the legislation on 29 June 2011. Based on proposals elaborated by representatives, the main topics of the act include the definition of a rare disease – Argentina is adopting the same prevalence of less than 1/2000 that is used in the European Union. Furthermore, the health system must now provide specific assistance to patients and their care-givers. In addition, public and private social security schemes are obliged to provide specific support. A central multidisciplinary committee is to be created in order to coordinate these actions and will include patient organisations. A national registry of patients will be elaborated, a neonatal screening programme will be considered, along with educational, social and support activities that are all mentioned in the law. All of these activities need governance and different levels of government must be coordinated before the effects of this dramatic development can be felt, but stakeholders believe that a significant first step has been taken. The Geiser Foundation (Grupo de Enlace, Investigación y Soporte - Enfermedades Rares), a regional initiative created in 2001 to pool rare disease resources, is particularly pleased to see this action taking place on the legislative level. Geiser started campaigning in 2002 for specific measures compelling care and protection for rare disease patients and their families, as well as resources for professionals. It is estimated that around 3 million persons may be affected in Argentina by rare diseases. Argentina-based Geiser also promotes and encourages other countries to take action, such as Chile, Uruguay, Brazil, Panama and Mexico, where rare diseases laws are also being elaborated.
Consult the text of the Argentina Legislation

Indeed, Peru has also established its first national law concerning patients with rare diseases. Law 29698 promotes treatments for rare conditions and includes a national strategy encompassing diagnostics, surveillance, prevention, care, and rehabilitation. While Peru has not developed a precise definition based on prevalence, this legislation, a result of efforts from Geiser, Peruvian rare disease patient groups, and policymaker Michael Urtecho (described as a “warrior” in the field) is also considered a big step forward for rare disease patients in Peru.
Consult the text of the Peru Legislation

German Parliament permits embryo screening - but only for cases involving rare inherited conditions
German lawmakers will allow pre-implantation genetic diagnosis (PGD) of embryos following in vitro fertilisation - but only when there is a risk of a genetically inherited disorder being transmitted or causing miscarriage or stillbirth. PGD will be decided on a case-by-case basis by a multi-disciplinary ethics committee and genetic counselling will be obligatory. According to an article appearing in Spiegel Online, critics of the new measure fear that permitting PGD will eventually lead the country down a slippery slope culminating in the creation of “designer babies”. However, the Bundestag outlines strict conditions restricting PGD to at-risk cases. As was reported in the 4 August 2010 issue of OrphaNews Europe, a Berlin-based gynaecologist actively sought legal clarification on the issue of pre-implantation diagnostics by bringing to the bench a case involving the disposal of affected artificially-created embryos identified via pre-implantation diagnosis. The law means that German couples at risk for genetic disease will no longer have to travel abroad for the procedure.
Other European news
Romania opens centre for rare diseases along with e-university for rare disease training

The Pilot Reference Centre for Rare Diseases and virtual Rare Disease Training E-University have been established in Zalau, Romania. Dorica Dan, President of the Romanian National Alliance for Rare Diseases, instigated the project, forging a partnership with Frambu, the Norwegian centre for rare diseases, and obtaining a grant from the Norwegian Cooperation Programme for Economic Growth and Sustainable Development with Romania. The centre, beautifully designed and adapted to the needs of the children and carers, officially opened on 28 June, with 250 participants from 11 countries including the Ministers of Health from Norway and Romania in attendance. Local authorities, who will ensure a minimum financial support to run the centre, were also present. A team from Frambu actively participated as did representatives from the Norwegian Prader Willi Association. The opening ceremonies provided the occasion for a conference based on the European approach to rare diseases, during which centres such as Norway’s Frambu, Agrenska in Sweden and other initiatives were presented and discussed. The Romanian national plan for rare diseases, which has been elaborated and now awaits implementation, was also evoked.
Learn more

Born Healthy organisation focuses on birth defects in developing countries
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.

Norwegian researchers develop interactive furniture for children with disabilities
Norwegian researchers are exploring how intelligent furniture and toys can encourage children with disabilities to become more active. Researchers from the Oslo School of Architecture and Design, the University of Oslo and the Norwegian Academy of Music are exploring how to stimulate children with disabilities to engage in activities via furniture and objects made with “e-textiles” – electronic textiles that contain integrated electronic devices, making it possible to program them to do something “smart”. In a press release, Jo Herstad, project manager and associate professor at the University of Oslo, explained that “We want to show how we can use media such as music, lighting and video to reduce passivity and isolation and thus improve health in families that have children with disabilities”. The objects, at the interface of toys and furniture, will stimulate joint activities involving several people so that children’s family members can also participate. Music, as a therapeutic tool, also has a significant role in the project. Within the context of the project, researchers will design, programme and produce objects that can light up, change colour or play music.
Learn more

Other International News
New commercially-available web platform offers boost to rare disease support

SocialRaise is a new web platform that can help rare disease communities by leveraging social media tools to manage social engagement and revenue driving. SocialRaise, commercially available, defines its mission as helping to make non-profit organisations successful “… with minimal effort and expense”. SocialRaise offers a “focused approach” for rare disease organisations and recently held a series of webinars on “Disease Affiliated Social Fundraising, Community Building and Leveraging Awareness to Drive Research Grant Funding”. Presentations are available for free on the Resources section of the SocialRaise website.


Ethical, Legal & Social Issues

Mothers as advocates: getting appropriate care for adult offspring with rare intellectual deficit conditions
An article appearing in the Journal of Genetic Counseling explores the experience of mothers of adults with Angelman, Cornelia de Lange or Cri du Chat (monosomy 5) syndromes – all rare conditions that feature moderate to severe intellectual deficit amongst their constellation of features, as well as unique behavioural phenotypes and facial characteristics. While existing literature acknowledges that parents of children with these disorders are at increased risk for experiencing stress, there are few studies on the experience of parents whose affected children are now adults, though research interest is increasing. As the authors point out, it is estimated that over 50% of adults with intellectual deficit are cared for by their parents (in the UK, Australia and the USA). This present study focuses on maternal experiences of social care support and medical services. A series of interviews with eight mothers of affected adult offspring, revealed four main areas of concern: the rarity of the syndrome; uneven medical and social care service provision; the inertia of the social care system; and the role of “advocate” that the mothers felt obliged to assume in order to try and secure adequate care and services for their offspring. The article concludes with recommendations for future research in this area and some implications for policies and practices to better address the needs of the adult patients and their care givers.
Consult the PubMed abstract


Orphanet News
Orphanet makes sharing its rich store of information even easier

Orphanet has added new functions to its website that allow users to better share and bookmark the comprehensive up-to-date information on rare diseases that the pan-European portal offers. With just a simple click, users can share any of Orphanet’s disease information pages, automatically posting content into the activity stream or feed on their favourite social networks, such as Facebook or Twitter; or can send the page link to selected addresses via email; bookmark the information; or print – all via the button toolbox now embedded into each of the site’s more than 6000 disease pages.

2010 impact factor moves the Orphanet Journal of Rare Diseases into top ten position
Thomson Reuters has released the 2010 Journal Citation Reports that detail the Impact Factor of over 10 000 journal listings in 238 disciplines of Science and Social Sciences. The 2010 Impact Factor for the Orphanet Journal of Rare Diseases (OJRD) has continued its steady ascent, increasing to 5.93 from 5.83 in 2009. The OJRD more than doubled its impact factor from 2007 to 2008 (from 1.30 to 3.14) and gained another impressive hike from 2008 to 2009.This year’s increase moves the journal into tenth place out of the 106 journals in the ‘Medicine, Research and experimental’ category of the Journal Citation Reports. An Impact Factor is a measure of the citation frequency of articles over a precise period of time and is calculated "by dividing the number of current year citations to the source items published in that journal during the previous two years". The Journal Citation Reports provide a critical evaluation of the leading journals, offering quantifiable statistics based on citation data.

New Texts
New Orphanet Journal of Rare Diseases publications
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia
Autosomal dominant cerebellar ataxia type I
Congenital neutropenia: diagnosis, molecular bases and patient management
Machado-Joseph Disease: from first descriptions to new perspectives
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

New emergency guidelines available in Spanish, Italian and Portuguese
Orphanet's rare disease emergency guidelines are expert-authored and peer-reviewed articles intended to guide health care professionals in emergency situations. New emergency guidelines are now available from Orphanet in Spanish for the following rare diseases:
Diabetes insípida de origen central (Central Diabetes Insipidus)
Poliendocrinopatía autoinmune de tipo 1 (Autoimmune polyendocrinopathy, type 1)
Diabetes insípida nefrogénica (Nephrogenic diabetes insipidus)
Síndrome de Ehlers-Danlos de tipo IV (Ehlers-Danlos syndrome, vascular type)
Déficit de alfa-1-antitripsina (Alpha-1 antitrypsin deficiency)

New emergency guidelines are also now available in Italian for:
Miopatia di Duchenne (Duchenne muscular dystrophy)
Emofilia (Hemophilia)

Finally, there is a new emergency guideline available in Portuguese for:
Síndrome de Ehlers-Danlos do tipo IV (Ehlers-Danlos vascular type)


New Syndromes

A multiple congenital anomalies-hypotonia-seizures syndrome caused by a mutation in PIGN
The authors describe a new autosomal recessive syndrome in 7 members of 5 interrrelated consanguineous families. The patients had dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death. Using homozygosity mapping, the study identified the disease-causing mutation in PIGN, which encodes glycosylphosphatidylinositol (GPI) ethanolamine phosphate transferase 1, a protein involved in GPI-anchor biosynthesis. The abundant expression of PIGN in various tissues is compatible with the diverse phenotypic features observed in the patients and with the involvement of multiple body systems.
Read the PubMed abstract

J Med Genet ; 383-389 ; June 2011

New Genes

Sensenbrenner syndrome: a homozygous mutation in C14ORF179, encoding IFT43, is responsible in two siblings
Read the PubMed abstract
To read more about "Sensenbrenner syndrome"

J Med Genet ; 390-395 ; June 2011
Manitoba-oculo-tricho-anal (MOTA) syndrome: identification of loss of function mutations in FREM1
Read the PubMed abstract
To read more about "Oculotrichoanal syndrome"

J Med Genet ; 375-382 ; June 2011
Acute basophilic leukaemia: a transforming MYB-GATA1 fusion gene responsible in four male infants
Read the PubMed abstract
To read more about "Acute basophilic leukemia"

Blood ; 5719-5722 ; 26 May 2011
Variegated aneuploidy syndrome: biallelic inactivating CEP57 mutations cause the disease in some families
Read the PubMed abstract
To read more about "Mosaic variegated aneuploidy syndrome"

Nat Genet ; 527-529 ; June 2011
Hereditary sensory and autonomic neuropathy type 1: mutations in DNMT1 cause a form with dementia and hearing loss
Read the PubMed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 1"

Nat Genet ; 595-600 ; June 2011
Occipital cortical malformations with pachygyria and polymicrogyria: recessive LAMC3 mutations at cause
Read the PubMed abstract
To read more about "Cerebral malformation due to abnormal neuronal migration"
To read more about "Polymicrogyria"

Nat Genet ; 590-594 ; June 2011
Walker-Warburg syndrome: dominant mutations in COL4A1 identified
Read the PubMed abstract
To read more about "Walker-Warburg syndrome"

PLoS Genet ; e1002062 ; May 2011
Primary sclerosing cholangitis: HLA-DRB1 and regions implicating IL2, REL, and CARD9 as susceptibility loci
Read the PubMed abstract
To read more about "Primary sclerosing cholangitis"

Hepatology ; 1967-1976; 1977-1985 ; June 2011

Research in Action

Fundamental Research
CADASIL syndrome: hypomorphic Notch 3 alleles link Notch signaling to ischaemic cerebral small-vessel disease
Read the PubMed abstract
To read more about "CADASIL syndrome"

PNAS ; e128-135 ; 24 May 2011
Systemic sclerosis: canonical Wnt signaling induces skin fibrosis and subcutaneous lipoatrophy
Read the PubMed abstract
To read more about "Systemic sclerosis"

Arthritis Rheum ; 1707-1717 ; June 2011
Ductal plate malformations is the common endpoint of distinct defects in biliary tubulogenesis: a new classification
Read the PubMed abstract
Hepatology ; 1959-1966 ; June 2011
Mandibuloacral dysplasia type A: osteoblasts undergo normal differentiation but bone turnover seems to be altered
Read the PubMed abstract
To read more about "Mandibuloacral dysplasia"

Biochim Biophys Acta ; 711-718 ; July 2011
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
Read the PubMed abstract
To read more about "CHARGE syndrome"
To read more about "Anophthalmia/microphthalmia - esophageal atresia"
To read more about "Alagille syndrome"
To read more about "Pallister-Hall syndrome"
To read more about "Oculo-digito-esophageal-duodenal syndrome"

Nat Genet ; 607-611 ; June 2011
Clinical Research
Congenital hypothyroidism: subtle health impairment and socioeducational attainment in adults diagnosed by neonatal screening
Read the PubMed abstract
To read more about "Congenital hypothyroidism"

J Clin Endocrinol Metab ; 1771-1782 ; June 2011
Polymyositis and dermatomyositis: efficacy of allogeneic mesenchymal stem cell transplantation in drug-resistant disease
Read the PubMed abstract
To read more about "Polymyositis"
To read more about "Dermatomyositis"

Ann Rheum Dis ; 1285-1288 ; July 2011
Idiopathic inflammatory myopathy: interrater reliability and aspects of validity of the myositis damage index
Read the PubMed abstract
Ann Rheum Dis ; 1272-1276 ; July 2011
Lysosomal storage disorders: screening with a single multiplex assay for 14 proteins in a dried blood spot
Read the PubMed abstract
J Med Genet ; 422-425 ; June 2011
Univentricular cardiopathy: renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants
Read the PubMed abstract
Circulation ; 2353-2362 ; 31 May 2011
Pulmonary fibrosis and aplastic anaemia: co-occurrence in a single patient or family is highly predictive for telomerase defect
Read the PubMed abstract
Blood ; 5607-5611 ; 26 May 2011
Severe hyperinsulinism due to SUR1 mutations: some dominant mutations can cause diazoxide-unresponsive disease
Read the PubMed abstract
To read more about "Severe hyperinsulinism due to SUR1 mutations"

Diabetes ; 1797-1804 ; June 2011
Li-Fraumeni syndrome: benefits of biochemical and imaging surveillance in asymptomatic TP53 mutation carriers
Read the PubMed abstract
To read more about "Li-Fraumeni syndrome"

Lancet Oncol ; 559-567 ; June 2011
Childhood cancer: two studies show increased gastrointestinal and neurocognitive function alterations in adult survivors
Read the PubMed abstract
Cancer ; 2559-2568 ; June 2011
Gastroenterology ; 1464-1471 ; May 2011

Systemic sclerosis: efficacy of basiliximab in 10 patients with progressive disease
Read the PubMed abstract
To read more about "Systemic sclerosis"

Ann Rheum Dis ; 1340-1341 ; July 2011
Langerhans cell histiocytosis: potential role of zoledronic acid therapy in patients with bone lesions
Read the PubMed abstract
To read more about "Langerhans cell histiocytosis"

Int J Hematol ; 782-786 ; June 2011
Membranous glomerulonephritis : bovine serum albumin detected in glomerular deposits in young children
Read the PubMed abstract
To read more about "Idiopathic membranous glomerulonephritis"

N Engl J Med ; 2101-2110 ; 2 June 2011
Small cell lung cancer: a study of bevacizumab in combination with chemotherapy in previously untreated extensive-stage disease
Read the PubMed abstract
To read more about "Small cell lung cancer"

J Clin Oncol ; 2215-2222 ; 1 June 2011
Biliary atresia: lessons learned from the voluntary German registry
Read the PubMed abstract
To read more about "Biliary atresia"

Eur J Pediatr Surg ; 82-87 ; March 2011
Congenital adrenal hyperplasia: growth hormone alone or in combination with LHRH analog improves final adult height
Read the PubMed abstract
To read more about "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form"
To read more about "Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"

J Clin Endocrinol Metab ; 1710-1717 ; June 2011
Idiopathic sudden sensorineural hearing loss: intratympanic corticosteroid therapy is not inferior to oral treatment
Read the PubMed abstract
JAMA ; 2071-2079 ; 25 May 2011
Friedreich ataxia: viewpoint on heart failure risk in case of thiazolidinedione treatment
Read the PubMed abstract
To read more about "Friedreich ataxia"

Mov Disord ; 769-771 ; April 2011
Stem Cells

Laminopathies with LMNA mutation: targeted gene correction in patient-specific induced pluripotent stem cells
Read the PubMed abstract
To read more about "Progeria"
To read more about "Werner syndrome"

Cell Stem Cell ; 688-694 ; 3 June 2011
Gene Therapy
Leber congenital amaurosis: the human visual cortex responds to gene therapy-mediated recovery of retinal function
Whether visual cortex could respond to recovery of retinal function after prolonged sensory deprivation remained unclear. In this paper, the authors present results of functional MRI within 2 years of unilateral subretinal injection of adeno-associated virus carrying the normal cDNA of RPE65 in 3 patients with Leber congenital amaurosis caused by RPE65 mutations (LCA2). These patients had been treated with the recombinant virus at ages 8, 9, and 35 years. The data suggest that despite severe and long-term visual impairment, treated LCA2 patients had intact and responsive visual pathways, and that gene therapy resulted in not only sustained and improved visual ability, but also enhanced contrast sensitivity.
Read the PubMed abstract

To read more about "Congenital Leber amaurosis"

J Clin Invest ; 2160-2168 ; 1 June 2011
Beta-thalassaemia: correction of murine disease after lentiviral gene transfer and homeostatic in vivo erythroid expansion
In order to increase the proportion of corrected erythroid cells in a murine model of β-thalassaemia, the authors designed a lentiviral vector that encodes human β-globin and a truncated erythropoietin receptor, both under erythroid-specific transcriptional control. Transplantation of marrow transduced with the vector into syngenic thalassaemic mice resulted in long-term correction of the disease even at low ratios of transduced/untransduced cells. Although major, the cell expansion appeared self-controlled, homeostatic, and restricted to the erythroid lineage.
Read the PubMed abstract

To read more about "Beta-thalassemia"

Blood ; 5321-5331 ; 19 May 2011
Congenital muscular dystrophy type 1A: muscle-specific expression of insulin-like growth factor 1 improves outcome in mice
The authors tested the effects of overexpressing insulin-like growth factor-1 (IGF-1) in the Lama2(Dy-w) mouse, a model that closely resembles human congenital muscular dystrophy type 1A. IGF-1 transgenic Lama2(Dy-w) mice which overexpressed a precursor of muscle-specific IGF-1 had increased lifespan and improved overall wellbeing, mainly through the restoration of impaired muscle regeneration.
Read the PubMed abstract

To read more about "Congenital muscular dystrophy type 1A"

Hum Mol Genet ; 2333-2343 ; 15 June 2011
Therapeutic Approaches
Tay-Sachs and Sandhoff diseases: therapeutic potential of intracerebroventricular replacement of modified β-hexosaminidase
Read the PubMed abstract
To read more about "Tay-Sachs disease"
To read more about "Sandhoff disease"

Mol Ther ; 1017-1024 ; June 2011
Cystic fibrosis: inhaled phosphodiesterase type 5 inhibitors restore chloride transport in a mouse model
Read the PubMed abstract
To read more about "Cystic fibrosis"

Eur Respir J ; 72-78 ; January 2011
Medullary and papillary thyroid cancers: mutation specific therapies with tyrosine kinase inhibitors could be beneficial
Read the PubMed abstract
To read more about "Papillary or follicular thyroid carcinoma"
To read more about "Medullary thyroid carcinoma"

J Clin Endocrinol Metab ; e991-995 ; June 2011
Diagnostic Approaches

Primary immunodeficiency: clinical features that identify children
The 10 warning signs of primary immunodeficiency diseases (PID) have been promoted by various organisations, but the ability of these warning signs to identify children with PID has not been rigorously tested. The authors tested the effectiveness of these signs in a retrospective survey of 563 children who presented to 2 paediatric immunodeficiency centers in the north of England (detailed investigations established a specific PID in 430 patients). The strongest identifiers of PID were a family history of immunodeficiency disease in addition to use of intravenous antibiotics for sepsis in children with neutrophil PID and failure to thrive in children with T-lymphocyte PID.
Read the PubMed abstract

Pediatrics ; 810-816 ; May 2011
Zollinger-Ellison syndrome: mismeasurement of gastrin levels with several commercial kits
Zollinger-Ellison syndrome (ZES) is usually diagnosed by measuring increased levels of gastrin in plasma. The authors examined the accuracy of 12 commercial kits to measure gastrin using plasma from 40 patients suspected or known to have ZES. 4 kits found false-low concentrations of gastrin in 20% to 80% of the patients and 3 kits found false-high concentrations of gastrin.
Read the PubMed abstract

To read more about "Zollinger-Ellison syndrome"

Gastroenterology ; 1444-1453 ; May 2011
Essential thrombocythaemia versus early primary myelofibrosis: a multicentre study to validate the WHO classification
This study highlights the impact of bone marrow morphology for the differentiation between true versus false essential thrombocythaemia.
Read the PubMed abstract

To read more about "Essential thrombocythemia"
To read more about "Myelofibrosis with myeloid metaplasia"

Blood ; 5710-5718 ; 26 May 2011

Patient Management and Therapy

Adult growth hormone deficiency: an Endocrine Society clinical practice guideline
The Endocrine Society published an update of the 2006 Clinical Practice Guideline on Evaluation and Treatment of Adult Growth Hormone Deficiency (GHD). Growth Hormone Deficiency (GHD) can persist from childhood or be newly acquired. Confirmation through stimulation testing is usually required unless there is a proven genetic/structural lesion persistent from childhood. Growth hormone (GH) therapy offers benefits in body composition, exercise capacity, skeletal integrity, and quality of life measures and is most likely to benefit those patients who have more severe GHD. The risks associated with GH treatment are low. GH dosing regimens should be individualised. The final decision to treat adults with GHD requires thoughtful clinical judgment with a careful evaluation of the benefits and risks specific to the individual.
Read the PubMed abstract

J Clin Endocrinol Metab ; 1587-1609 ; June 2011
Gastrointestinal stromal tumors (GISTs): disease and treatment update
This review presents the pathogenesis, clinical manifestations, general therapy, prognostic and predictive markers (KIT/PDGFRA genotype and response to imatinib and sunitinib), and new drugs in development for GIST patients, whose prognosis has dramatically improved with the development of molecularly targeted therapies in the past decade.
Read the PubMed abstract

To read more about "Gastrointestinal stromal tumor"

Gastroenterology ; 1372-1376 ; May 2011
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
The American College of Medical Genetics assembled an international group of experts to develop educational guidelines for the diagnosis and management of individuals who may have a lysosomal storage disease (LSD) identified by newborn screening (NBS), family-based testing after proband identification, or carrier testing in at-risk populations, and subsequent prenatal or postnatal testing. For the most part, the recommendations must be considered as expert opinion because additional levels of evidence were not available in the literature. This publication focuses on select LSDs for which a NBS test and some specific treatment are available or may become available in the near future. Guidelines were developed for glycogen storage disease type 2 (Pompe disease), Fabry disease, Gaucher disease, Krabbe disease (globoid cell leukodystrophy), metachromatic leukodystrophy, Niemann-Pick disease types A and B, and mucopolysaccharidose types 1, 2, and 6.
Read the PubMed abstract

To read more about "Glycogen storage disease type 2"
To read more about "Fabry disease"
To read more about "Gaucher disease"
To read more about "Krabbe disease"
To read more about "Metachromatic leukodystrophy"
To read more about "Niemann-Pick disease type A"
To read more about "Niemann-Pick disease type B"
To read more about "Mucopolysaccharidosis type 1"
To read more about "Mucopolysaccharidosis type 2"
To read more about "Mucopolysaccharidosis type 6"

J Med Genet ; 457-484 ; May 2011
Klinefelter syndrome: consensus statement on diagnosis and clinical management
According to this interdisciplinary panel of Italian specialists, Klinefelter syndrome (KS) remains a largely undiagnosed condition. In this present consensus, they highlight the features that may prompt physicians to look after patients with KS both for the syndrome and correlated diseases. They provide evidences that, during the different phases of life, there might be some advantages in establishing the diagnosis and starting proper follow-up and treatment.
Read the PubMed abstract

To read more about "Klinefelter syndrome"

J Endocrinol Invest ; 839-850 ; December 2010

Orphan Drugs
Accelerating rare disease treatments: an Industry perspective
An article appearing in Nature Reviews Drug Discovery penned by the Global Head of GSK Rare Diseases suggests ways in which the rare disease drug market could be boosted to accelerate the production of treatments. Describing the market as “frustratingly flat” despite incentives designed to stimulate development for rare disease products, the author looks at the various elements that could stand improvement, including the challenge of understanding the heterogeneous nature of rare conditions, many of which have countless subtypes. Post-marketing studies and patient registries are two mechanisms evoked that can improve understanding. Innovative and flexible clinical study design is another way of accelerating the development of treatments for rare diseases, with the more traditional end-point studies taking place post-approval. Finally, the regulatory pathway needs rolling out a bit further to encompass increased global harmonisation (going beyond Europe and the USA), extending pre-approval access in more countries, boosting accelerated and conditional approvals, and facilitating cross-border treatment access.
Consult the PubMed abstract

Drugs with an orphan designation have a higher price tag than non-designated rare disease medicines
A rare disease drug that received an orphan designation has a potential side-effect: a higher price. An article appearing in the journal Applied Health Economics and Health Policy examines the influence of orphan designation status on pricing. The Belgium-based authors compared the prices of 28 rare disease orphan-designated products with 16 non-designated drugs for rare disease indications. The verdict: orphan-designated rare disease drugs have a higher median price than their non-designated counterparts.
Consult the PubMed abstract

A total of 23 positive opinions recommending orphan designation adopted by the COMP in June and July
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 16 positive opinions recommending orphan designation at the July 2011 COMP meeting for the treatment of:

- neuroblastoma
- prevention of oral mucositis in head and neck cancer patients undergoing radiation therapy
- ornithine transcarbamylase deficiency
- pulmonary arterial hypertension
- traumatic spinal cord injury
- multiple myeloma
- chronic lymphocytic leukaemia
- ovarian cancer
- alpha-sarcoglycanopathy
- beta-sarcoglycanopathy
- delta-sarcoglycanopathy
- gamma-sarcoglycanopathy
- globoid cell leukodystrophy (Krabbe disease)
- prevention of graft rejection in pancreatic islet transplantation
- hepatocellular carcinoma
- amyotrophic lateral sclerosis

The COMP adopted seven positive opinions recommending orphan designation during the June 2011 COMP meeting for the treatment of:

- 5q spinal muscular atrophy
- acute liver failure
- gastric cancer
- Niemann-Pick disease, type C
- cystic fibrosis
- tuberculosis
- chronic non-infectious uveitis

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

Positive opinion from the CHMP for conditional marketing authorisation for Votubia
At the May 2011 meeting of the Committee for Medicinal Products for Human Use (CHMP), the Committee adopted a positive opinion for Votubia (everolimus), an orphan medicine from Novartis Europharm Ltd, intended for the treatment of patients aged 3 years and older with subependymal giant-cell astrocytoma associated with tuberous sclerosis complex. The CHMP recommended the granting of a conditional marketing authorisation for Votubia, meaning that further evidence on the medicinal product is awaited. In the case of Votubia this relates to the submission of the final results from pivotal phase III study and the long-term follow-up on the efficacy and safety in patients. The European Medicines Agency will review new information within one year and update the product information as necessary.

SMA biomarker study open for applications
The National Institute of Neurological Disorders and Stroke in the USA is soliciting applications for clinical research studies that will accelerate and augment the validation of biomarkers for spinal muscular atrophy. Application due date: 1 September 2011.
Learn more


Partnersearch, Job Opportunities
Pre-clinical application of patient-specific induced pluripotent cells for treatment of inherited metabolic liver diseases
A post-doctorate INSERM position covering two years of research activity beginning 1 December 2011 is available for candidates with skills in cell culture, lentivectorology and animal experiments at the University of Nantes (France). Deadline for applications: 1 November 2011.
Learn more

Myotonic Dystrophy Foundation research fellowships available
Myotonic Dystrophy Foundation (MDF) has announced its 4th annual programme to support innovative research on myotonic dystrophy. On 1 January 2012, the MDF will award up to three postdoctoral research fellowships, each providing two years of support at $50,000 (€34,808) per fellowship, per year. This year's programme is open to applicants from around the globe. Application deadline: 16 September 2011.
Learn more


Courses & Educational Initiatives

2nd Course in Eye Genetics-EuroMediterranean University Center of Bologna
Eye Genetics is a 4-day long postgraduate level course taking place 28 September – 1 October and addressed to both researchers and clinicians seeking an up-to-date introduction to the field of ophthalmogenetics today. It provides an overview of the clinical developments of modern genetics in different fields of ophthalmology. The topics covered in the course are: hereditary retinal diseases, genetics of retinitis pigmentosa, genetics of age related macular degeneration, genetics of myopia, genetics of glaucoma, genetics of corneal pathology, genetics of optic nerve diseases, gene therapy.
For further details

Goldrain Courses in Clinical Cytogenetics and in Prenatal Genetic Diagnosis
The upcoming Goldrain Clinical Cytogenetics course, from 28 August to 3 September 2011 at the Goldrain Castle in South Tyrol (Italy), focuses on phenotypic findings, mechanisms of origin and transmission and correlations of clinical patterns with the chromosomal imbalance. Special attention is paid to an understanding how deletions and/or duplications of chromosomal segments cause developmental defects. The course also addresses the optimal application of the diagnostic possibilities including molecular cytogenetic methods for a precise determination of segmental aneuploidy.
The Prenatal Genetic Diagnosis course, taking place from 15 to 21 October 2011 also at the Goldrain Castle, 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. TOPICS include Techniques: Amniocentesis and amniocyte examination, chorionic villus sampling and examination, cordocentesis and fetal blood examination, pre-implantation genetic diagnosis, prenatal diagnosis from fetal DNA and cells in maternal blood, QF-PCR and MLPA, DNA-arrays, aneuploidy screening and PGD, QF-PCR as a stand-alone test. Obstetric issues: Obstetric indications for PD, prenatal dysmorphology and assessment of congenital developmental defects, PD in twins and selective fetocide, the fetal heart as a window to detect genetic problems, risk assessment for chromosomal anomalies following non-invasive prenatal testing, prenatal ultrasonic diagnosis: routine screening approach; specific examinations; fetal therapy; prenatal magnetic resonance examination. Genetic issues: genetic counseling in the context of potential prenatal diagnosis, genetic indications for PD, estimation and calculation of recurrence risks, techniques and their indications: conventional cytogenetics; molecular cytogenetics; mutation analysis; biochemical diagnosis; questionable results; mosaicism and chimaerism. Ethical considerations.
For further details

4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
The University of Rostock is organising the 4th International Postgraduate Course on Lysosomal storage disorders: diagnostic background and clinical therapy to take place in Berlin, Germany from 14-15 November 2011. Scientific excellence in talks will be connected with presentations and discussion of real clinical cases embedded into a communicative and inspiring atmosphere.
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 2011 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?

Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
Date: 30 August – 02 September 2011
Venue: Geneva, Switzerland

The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
For further details

European Conference on Post Polio Syndrome
Date: 31 August – 02 September 2011
Venue: Copenhagen, Denmark

This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
For further details

15th International Workshop on Fragile X and Early-Onset Cognitive Disorders
Date: 4-7 September 2011
Venue: Berlin, Germany

Topics include: Everything you always wanted to know about Fra(X); Novel causes of X-linked intellectual disability (XLID); Autosomal dominant and recessive forms of ID; ID syndromes: clinical, neurological and neuro-anatomical findings; Functional studies, animal models, emerging pathways; Population-specific and epidemiological aspects; Diagnosis, carrier detection and therapy; Molecular links between cognitive and behavioural disorders; Genetic determinants of intelligence, and much more.
For further details

First International Symposium on the Ehlers-Danlos Syndrome
Date: 8-11 September 2011
Venue: Ghent, Belgium

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

3rd International Symposium on Pheochromocytoma and Paraganglioma
Date: 14-17 September 2011
Venue: Paris, France

An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside.
For further details

18th Pediatric Rheumatology European Society Congress (PRES2011)
Date: 14-18 September 2011
Venue: Bruges, Belgium

Offering a venue for continued education, the sharing of new research developments, and fostering academic collaboration, for clinicians, trainees, scientists and allied health professionals in the field of paediatric rheumatology. The scope of PRES2011 includes genetics, etiopathogenesis, clinical innovations and recent advances in treatment covering a wide spectrum of both common and rare rheumatic diseases in children.
For further details

International Tuberous Sclerosis Complex Research Conference 2011
Date: 21-24 September 2011
Venue: Belfast, Northern Ireland

Topics include clinical problems, epidemiology & natural history; genetics and molecular biology; neurological aspects of TSC; and a Research Study Day for the patient community.
For further details

13th International Conference on Chronic Myeloid Leukemia: Biology and Therapy
Date: 22-25 September 2011
Venue: Estoril, Portugal

Speakers will present the newest and often unpublished data relating to 1) the biology of CML including the origin of BCR-ABL1, signal transduction, basis of disease progression, action of tyrosine kinase inhibitors and mechanisms underlying resistance to TKI; and 2) aspects of treatment including prediction and definition of responses, drugs used in combination, molecular monitoring, targeting residual stem cells and approaches to a cure.
For further details

EurokeratoConus II: 2nd European Congress on Keratoconus
Date: 23-24 September 2011
Venue: Bordeaux, France

Sessions will address: Epidemiology and Pathogenesis; Corneal Biomechanics; New treatments and much more.
For further details

5th International Conference on Birth Defects and Disabilities in the Developing World
Date: 24-27 September 2011
Venue: Lodz, Poland

The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
For further details

Pharmaceutical Pricing and Reimbursement Information Conference 2011
Date: 29-30 September 2011
Venue: Vienna, Austria

The WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies in Vienna invites participants to discuss pharmaceutical policies and their practical implementation in the light of current challenges such as the economic crisis with high ranking experts and policy makers. The main topics of the conference are pricing and reimbursement of medicines in the in- and out-patient sector, interface management and the rational use of medicines from a comprehensive, international and European perspective. Orphan Drugs will be subject to several discussions.
For further details

12th International Congress of Human Genetics
Date: 11-15 October 2011
Venue: Montreal, Canada

The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
For further details

European Congress on Myocardial and Pericardial Diseases
Date: 13- 15 October 2011
Venue: Lisbon, Portugal

Focusing on the key contemporary issues in myocardial and pericardial diseases, the meeting includes the current state of the art management of myocardial dysfunction, aetiology and pathogenesis of inherited cardiac disease, and the role of current and merging multimodality imaging.
For further details

Tuberous Sclerosis Complex Scientific Day
Date: 14 October 2011
Venue: Paris, France

This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
For further details

27th Annual Meeting of the Histiocyte Society
Date: 17-19 October 2011
Venue: Vienna, Austria

This year’s programme features a presentation on recent publications on Erdheim-Chester disease that have provided important new insights into the pathogenesis, classification and management of this challenging histiocytic disorder. Other sessions include LCH in adults, including a review of lessons learned from the Society’s first adult LCH trial, LCH-A1, as well as other treatment experiences, through which a consensus approach to the treatment of LCH in the adult population will be developed This year’s meeting will also focus on the Society’s soon-to-be-launched International Rare Histiocytic Disorders Registry and the opening of the LCH-IV study.
For further details

The 40th ESPC Symposium on Clinical Pharmacy – with a Workshop on Cross-Border Healthcare and Rare Diseases
Date: 19-21 October 2011
Venue: Dublin, Ireland

This year’s programme features a special workshop on Cross-border Healthcare and Rare Diseases that will allow an exchange of ideas on the development of cross-border clinical pharmacy interventions in patients with rare diseases across Europe, considering aspects such as adherence, off-label and unlicensed use, and home treatment.
For further details

EPPOSI Advanced Innovation programming Day
Date: 20 October 2011
Venue: Brussels, Belgium

This event will set the priorities for EPPOSI activities for 2012 in key areas – including rare diseases.
For further details

2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
Date: 27-28 October 2011
Venue: Tbilisi, Georgia

With this year’s theme: Children and Rare Diseases: From Isolation to Integration, the conference will continue the tradition of the previous South Caucasian Conference - providing the most updated information in the field of rare diseases, and giving participants an opportunity of meeting experts from all over the world.
For further details

Rare 2011: The Eurobiomed Meetings on Rare Diseases
Date: 2-4 November 2011
Venue: Montpelier, France

This French-language event features an English-language “European Day” co-hosted by Eurobiomed and the European Union Committee of Experts on Rare Diseases (EUCERD) that will explore shared data to improve healthcare management for rare diseases.
For further details

Treat-NMD Global Conference
Date: 8-11 November 2011
Venue: Geneva, Switzerland

The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
For further details

Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
Date: 16-1 8 November 2011
Venue: Ottawa, Canada

This event will allow participants to review epidemiological studies on the natural history, diagnosis and treatment of musculoskeletal congenital anomalies, particularly limb deficiencies; highlight maternal and environmental risk factors associated with susceptibility to musculoskeletal congenital anomalies; share up-to-date information on the embryology, molecular mechanisms and classification of musculoskeletal congenital anomalies, as well as key messages on the impact of living with a limb deficiency; and raise awareness of the importance of integrating congenital anomalies surveillance and research into current public health initiatives.
For further details

Sanfilippo Foundation Switzerland International Congress
Date: 8-10 December 2011
Venue: Geneva, Switzerland

“Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
For further details

International Congress on Research of Rare and Orphan Diseases
Date: 29 February - 2 March 2012
Venue: Basel, Switzerland

The Swiss-based Blackswan Foundation and Gebert Rüf Stiftung Foundation, both active in supporting research activities in Rare Diseases, are preparing an international congress of which the main topics will include Gene and cell therapy; Stem cells; Diagnostics; Therapeutic applications; and Genomic disorders. The congress will be open to scientific researchers, specialized scholars, professionals and officials.
For further details

Second ASID Congress of the African Society for Immunodeficiencies
Date: 8-11 March 2012
Venue: Hammamet, Tunisia

This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
For further details

13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
Date: 28-31 March 2012
Venue: London, England

This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting. Deadline for abstract submission: 30 November 2011.
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

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


Press & Publications

New documentary RARE examines the relationship between rare disease patient groups and researchers
A documentary created by filmmakers from Stanford University’s Program of Bioethics and Film follows a Hermansky Pudlak syndrome patient and her mother as they “race against the clock” to locate other patients and gather enough resources to finance a clinical study. Hermansky Pudlak syndrome is a multi-system disorder characterised by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. In an interview with the filmmaker, published in Scope (a medical blog produced by the Stanford University School of Medicine) the fragmented medical care that multi-system rare disease patients frequently experience is evoked as one of the greatest challenges for patients – and the professionals working with them. The filmmakers were also impressed by the power patient organisations have toward “energizing their community and giving their members support”. Finally, the filmmakers were moved by the dedication of the researchers and the degree of their commitment to their patients.
Learn more

Medical Genetics in the Clinical Practice of ORL
Experts in otorhinolaryngology as well as medical genetics have contributed their reviews to this comprehensive compilation. The gamut of otorhinolaryngological diseases from both adult and paediatric practice is covered. Included are common disorders such as hearing loss, cleft lip and palate, and thyroid cancers as well as further chapters on rare disorders such as Usher syndrome, neurofibromatosis type 2 and paraganglioma. Also, emerging fields of genetic investigation including otitis media, chronic rhinosinusitis and gene therapy are discussed. The contributions focus on diagnosis and management, as well as practical issues like how to order genetic testing or refer to a medical geneticist or genetic counsellor. This publication provides readers with an understanding of the current state of genetic disorders seen in ORL practice, allow for accurate diagnosis, and improve patient management.
Title: Medical Genetics in the Clinical Practice of ORL
Authors: Alford, RL; Sutton, VR –Eds.
Publisher: Karger
ISBN: 978-3-8055-9668-8


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, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Christophe Roeland

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), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (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), Michael Soop (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, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (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 Sequieros (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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