9 February 2011 print
Spotlight on...
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ELS News
Orphanet News
New Syndromes
New Genes
Research in Action
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Ask not what Rare Disease Day can do for you…

What can YOU do to support International Rare Disease Day this year? Does your country have a petition to be signed? Is there a benefit to attend? A march to join? International Rare Disease Day is an annual awareness-raising event coordinated by the European Organisation for Rare Diseases (EURORDIS) at the international level and by the National Alliances of Patient Organisations at the national level. In 2010, a record 46 countries participated - making it a truly international campaign. Everyone concerned by rare diseases - researchers, health professionals, public authorities, members of industry and patients - is encouraged to join this year's campaign as Friends of Rare Disease Day. Friends can help raise awareness by posting the Rare Disease Day logo and linking to the Rare Disease Day website from their own websites. See who has signed up so far

The focus of this year’s event is Rare Diseases and Health Inequalities and the theme is Rare but Equal. At the European level, the symposium Rare but Equal - Addressing Health Inequalities for Rare Disease Patients in Europe, will take place in the International Press Centre in Brussels. Attendees will include patients and patient representatives, health professionals from rare disease centres of expertise, social researchers and academics, members of the EU Committee of Experts on Rare Diseases, industry representatives, and high-level officials of the European Medicines Agency and the European Commission’s DG Health and Consumers, DG Employment and Social Affairs, and DG Justice, Fundamental Rights and Citizenship. The programme will be devoted to presenting the rare disease landscape in Europe and to demonstrating prevalent inequalities through case studies and surveys. To learn more about this and other specific activities being planned in your country, or to register an activity you are hosting, visit the Participating Countries page of the Rare Disease Day website.

OrphaNews Europe encourages all readers to get involved – 28 February is the day to put rare diseases in the spotlight!


Spotlight on...
Turkey’s Hacettepe School of Medicine DNA/Cell Bank furthers understanding of rare diseases

Due to its high rate of consanguinity, Turkey has an opportunity to offer scientific contributions in the field of genomics of autosomal recessive diseases by defining new phenotypes and identifying new genes and relevant pathways. The DNA/Cell Bank at Hacettepe Medical Center has been instrumental in creating a working environment that is in line with international guidelines of governance and ethics for biological repositories. Since its foundation, the repository of the DNA/Cell Bank has facilitated collaborations leading to the identification of new disease genes, including: Megalencephalic leukoencephalopathy with subcortical cysts, MLC (MIM 604004); Ceroid Lipofuscinosis, neuronal, 7, CLN7 (MIM 610951); Heterotopia, periventricular, autosomal recessive (MIM 608097); Chanarin-Dorfman syndrome, CDS (MIM 275630); Arachidonate 12-Lipoxygenase, R type, ALOX12B (MIM 603741); L-2-Hydroxyglutarate dehydrogenase L2HGDH (MIM 609584).

The DNA/Cell Bank was established at Hacettepe School of Medicine in 1995 to facilitate biomedical research into rare genetic diseases including identification of new genes, diagnosis, prevention and new treatment modalities. Another mission is to provide training for good laboratory practice and ethical guidelines for those who wish to establish biobanks at their institutions. Biological samples, along with personal and medical information from patients and families, serve to create a database that facilitates national and international partnerships in the area of rare diseases.

Turkey has a population of about 71 million, of which 28% is below the age of 15 years. Consanguinity in the general population is 21%, a figure which rises to 39% in the southern and south-eastern parts of the country. Hacettepe University Medical School was established in 1967 on the foundations of a paediatric hospital that began operating in 1957. The Medical Center hospital complex consists of the Children’s Hospital (241 beds, 163,835 outpatients/year, 4694 inpatients/year), the Adult Hospital (808 beds, 435,438 outpatients/year, 23,465 inpatients/year), and the Oncology Hospital (180 beds, 30,000 outpatients/year). Since 2007, the Adult Hospital has been accredited by the Joint Commission International. The high in/out-patient capacity and location in Central Anatolia makes Hacettepe Medical Centre a large reference centre for patients from eastern, south-eastern, northern and southern Anatolia, serving a population of about 30 million - almost half of the total population of Turkey.

Serving a large population from different geographic regions has been instrumental in establishing large patient registries and a bio-repository for genetic disorders that creates unique opportunities for genomics research. Demographic data indicate that the child bearing age runs quite long, especially in rural areas, and if a family has a rare disease, it is likely that there will be multiple affected siblings. Moreover, in rural areas, multiple generations live in one habitat, creating a favourable environment for genetic investigations, from which sampling from the complete family is easier to achieve. Homozygosity mapping technique is thus a favourable algorithm for genomics research.

Read the full report on the Hacettepe Biobank
Contact the Hacettepe Biobank


National & International Policy Developments
Declaration of principles for rare neurological diseases of childhood endorsed by stakeholders
A conference held at the European Parliament in December was the occasion for stakeholders – including Member of Parliament Amalia Sartori, scientists, medical professionals, patient groups, and industry – to endorse a Declaration of Principles for rare neurological disorders of childhood. Supported by the Brains for Brain Foundation, the European Brain Council, the Lysosomal Storage Disease Patient Collaborative, the Veneto Region and members of the pharmaceutical industry, the Declaration focuses on rare neurological conditions, which are largely inherited disorders and often fatal in childhood. Evoking the “new golden age” of science, the authors of the Declaration find that the “time is right for a new initiative” that will coordinate and unite existing stakeholders across Europe in order to improve diagnostics, treatment and care for these patients. Specifically, the Declaration seeks to “…promote and facilitate partnership and collaboration between physicians, researchers, patient advocates, carers, policy- and decision-makers and industry; to encourage and support research and the translation of scientific breakthroughs into clinical practice; to contribute to the establishment of a standard of care for patients with rare neurological disorders which is agreed across Europe; and to ensure equity of access to diagnosis, treatment and care”. Citing as one example the United Kingdom, where rare disease research receives less monies than common diseases, although, when taken collectively, rare diseases affect more individuals and rare neurological disease research lends solutions to common disorders such as Parkinson or Alzheimer disease, the Declaration aims to make funding for rare disease research more equitable. The Declaration calls for increased visibility and awareness for rare neurological conditions in order to improve diagnosis. In terms of treatment, the Declaration points out that brain disorders account for less healthcare costs than other diseases because there are fewer available treatments available and that there could also be “…a shortfall in healthcare provision, which may reflect both suboptimal training of clinicians in brain-related disorders and a shortage of material resources”. Because a majority of treatments are not curative for these diseases, the Declaration educes the benefits of centres of expertise that could “… specialize in the diagnosis, treatment and care of patients with rare neurological diseases”. The sponsors of the Declaration of principles for rare neurological diseases of childhood invite interested stakeholders to support this new initiative. Learn more The declaration can also be supported by sending an email to maurizio.scarpa@unipd.it
German scientists issue statement in support of preimplantation genetic diagnosis
In the most recent issue of OrphaNews Europe, it was reported that experts from the Union of German Academies of Sciences Leopoldina are calling for reform of the Genetic Diagnostics Act, passed into effect in February 2010 by the German Bundestag, the legislative body of the German government. Now the Leopoldina has issued a new statement in support of preimplantation genetic diagnosis (PGD) for the prevention of birth of children affected by serious genetic diseases. In July 2010 the German court ruled it permissible for embryos created from in vitro fertilisation to be screened for genetic defects before implantation. An expert Working Group at Leopoldina supports this ruling. The Recommendation 2010/11 – Predictive Genetic Diagnostics as an Instrument of Disease Prevention, which “serves to inform the public and politics and extensively highlights the broad field of predictive genetic diagnostics from various perspectives”, also calls for a mechanism that would monitor the appropriate use of preimplantation genetic diagnosis. According to an article published in the British Medical Journal in October 2010, German Chancellor Angela Merkel, who opposes the procedure, “has agreed to a free parliamentary vote on whether to allow pre-screening of fertilised embryos in Germany”. Consult the Leopoldina statement (in German language)
French rare disease initiatives suffer setbacks
These are uncertain times for rare disease stakeholders in France. The second national rare disease plan, which follows the spectacular success of the first four-year strategy and was scheduled to be finalised by the end of 2010, is still undergoing various negotiations and revisions. Furthermore, the famous French Telethon, which is the bread-and-butter of many rare disease initiatives in the country, has not yet been renewed by state-owned France Télévisions for 2011. Consequently, the AFM (Association Francaise Contre les Myopathies) has had to cancel a call for grant/fellowship proposals. It is hoped that the upcoming Rare Disease Day at the end of February will be able to breathe some new life into the country's initiatives and that France will soon regain its place as a world leader in offering care and protection for its rare disease patients and their families.
Other European news
New Bulgarian report offers some much-needed transparency in the area of orphan drug access
One opaque area for European Union rare disease stakeholders concerns orphan medicinal product availability. It is hard to know just how many medicines are available, in which countries, and under what conditions. Bulgaria has provided some transparency on this issue. The Bulgarian Association for the Promotion of Education and Science (BAPES) has created a periodic review of the orphan medicinal products currently available in the country. This document takes the 60 orphan drug products that had received EMA marketing authorisation as of June 2010 and provides for each of them the date of EU marketing authorisation, availability status in Bulgaria, the date products became available, and the reimbursement policy. In general, of the 60 authorised products, “…18 ... are included in the Bulgarian [Positive Drug List] … and 11 are reimbursed by Regulation 34 [concerning the procedure of payment from the state budget for the medical treatment of Bulgarian citizens, outside the compulsory health insurance … ]. Average time from EMA market authorization to PDL inclusion is about 44 months… ". The report Orphan Drugs in Bulgaria is accessible via the Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) website. As of 1 January of this year, Bulgaria has revised its regulations governing rare disease-related medicines. The rare diseases medicines provision is now defined by the updated Regulation 38, which provides the same drugs, now covered by the budget of the State Health Insurance Fund (NHIF). The effect these revisions will have is not yet clear, but it is hoped that they will improve access and availability to orphan drugs. ICRDOD is planning to issue an updated report this Spring, which will summarise the changes in regulation.

Ethical, Legal & Social Issues
Unmeasured costs … families who lose a child to cancer suffer financially too
A study recently published in the Journal of Clinical Oncology reveals that in addition to the emotional burden associated with losing a child to cancer there are also significant financial costs with which families must contend. The results of a retrospective cross-sectional study involving 141 American and 89 Australian parents of deceased children demonstrate that families of an affected child suffer a “great deal of financial hardship”, the majority of which can be attributed to work disruptions and/or stoppage during the course of the child’s illness. Over 15% of the American families and 22% of Australian families, dropped below the poverty line. Predictably, poor families suffered more significant income loss, due to less flexible working conditions. The authors point out that their study “…highlights yet again the vulnerability of poor families and suggests that existing health care, social, and work policies ... were not sufficient to prevent the household level financial effects of a child’s death from cancer”. Many families did, however, develop healthy coping responses, including fund-raising and reduced spending. The study did not include American families without health insurance in its scope. While this study is limited to children with cancers - all of which are rare in paediatric populations - the findings could be similar for families affected by other fatal rare conditions.
Consult the PubMed abstract


Orphanet News
New Texts
New Orphanet Journal of Rare Diseases publications
Toxic epidermal necrolysis and Stevens-Johnson syndrome
Huntington's disease: a clinical review


New Syndromes

Autosomal recessive intellectual deficit with deafness, ankylosis, and hypophosphatemia associated with a novel ANKH mutation
The authors describe several members of a large consanguineous family with intellectual deficit, deafness, and ankylosis. The studied patients had painful small joint soft-tissue calcifications, progressive spondylarthropathy, osteopenia, mild hypophosphatemia, and mixed hearing loss. A novel ANKH gene mutation was identified.
Read the PubMed abstract

J Clin Endocrinol Metab ; E189-198 ; January 2011
A 6p21.3 deletion syndrome with intellectual deficit, drug-resistant seizures, facial dysmorphisms, and gut malrotation
A de novo 0.3 Mb deletion on 6p21.3 was detected in a five-year-old girl with intellectual deficit, drug-resistant seizures, facial dysmorphisms, gut malrotation and abnormal pancreas segmentation. The deleted region contains the SYNGAP1, CuTA, and hPHF1 genes.
Read the PubMed abstract

Eur J Hum Genet ; 239-242 ; February 2011

New Genes

Autosomal recessive nonsyndromic sensorineural deafness type DFNB associated with functional null mutations of MSRB3

Read the PubMed abstract

To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Am J Hum Genet ; 19-29 ; 7 January 2011
Craniosynostosis and syndactyly: copy-number variations involving the IHH locus are associated
Read the PubMed abstract
To read more about "Craniosynostosis"
To read more about "Syndactyly"

Am J Hum Genet ; 70-75 ; 7 January 2011
Ophthalmo acromelic syndrome: SMOC1 gene mutations identified
Read the PubMed abstract
To read more about "Ophthalmo acromelic syndrome"

Am J Hum Genet ; 30-41 and 92-98 ; 7 January 2011
Hereditary sensory neuropathy type I: atlastin-1 mutations at cause
Read the PubMed abstract
To read more about "Hereditary sensory and autonomic neuropathy type 1"

Am J Hum Genet ; 99-105 ; 7 January 2011
Short-rib polydactyly syndrome, type Majewski: NEK1 mutations at cause
Read the PubMed abstract
To read more about "Short rib-polydactyly syndrome, Majewski type"

Am J Hum Genet ; 106-114 ; 7 January 2011
Nonsyndromic thrombocytopenia: mutations in ANKRD26 cause an autosomal-dominant form
Read the PubMed abstract
To read more about "Nonsyndromic thrombocytopenia"

Am J Hum Genet ; 115-120 ; 7 January 2011
Cowden and Cowden-like syndrome: germline KILLIN methylation is common
Read the PubMed abstract
To read more about "Cowden syndrome"

JAMA ; 2724-2731 ; 22 December 2010
Neuroblastoma: LMO1 identified as an oncogene in severe disease forms
Read the PubMed abstract
To read more about "Neuroblastoma"

Nature ; 216-220 ; 13 January 2011

Research in Action

Fundamental Research
Mantle cell lymphoma: bortezomib resistance is associated with plasmacytic differentiation
Read the PubMed abstract
To read more about "Mantle cell lymphoma"

Blood ; 542-552 ; 13 January 2011
Clinical Research
X-linked lymphoproliferative disease: manifestations, management and outcome
Read the PubMed abstract
To read more about "X-linked lymphoproliferative disease"

Blood ; 53-62 ; 6 January 2011
Fanconi anemia: spontaneous abrogation of the G₂ DNA damage checkpoint has clinical benefits but promotes leukemogenesis
Read the PubMed abstract
To read more about "Fanconi anemia"

Clin Invest ; 184-194 ; 4 January 2011
Congenital hyperinsulinism: first familial cases reported
Read the PubMed abstract
To read more about "Congenital hyperinsulinism"

Clin Endocrinol Metab ; 24-28 ; January 2011
Gene Therapy
Congenital Leber amaurosis: gene therapy in second eye of RPE65-deficient dogs improves retinal function
The purpose of this study was to evaluate whether immune responses interfered with gene therapy rescue using subretinally delivered recombinant adeno-associated viral vector serotype 2 carrying the RPE65 cDNA gene driven by the human RPE65 promoter (rAAV2.hRPE65p.hRPE65) in the second eye of RPE65-/- dogs that had previously been treated in a similar manner in the other eye. Electroretinography (ERG) and vision testing showed rescue in 16 of 18 treated eyes, with no significant difference between first and second treated eyes.
Read the PubMed abstract

To read more about "Congenital Leber amaurosis"

Gene Ther ; 53-61 ; January 2011
Beta thalassaemia: genomic safe harbors permit high β-globin transgene expression in induced pluripotent stem cells
The authors describe a strategy to genetically modify human iPS cells at 'safe harbor' sites in the genome, which fulfill five criteria based on their position relative to contiguous coding genes, microRNAs and ultraconserved regions. They demonstrate that ∼10% of integrations of a lentivirally encoded β-globin transgene in β-thalassemia-patient iPS cell clones meet safe harbor criteria and permit high-level β-globin expression upon erythroid differentiation without perturbation of neighboring gene expression. This approach, combining bioinformatics and functional analyses, should be broadly applicable to introducing therapeutic or suicide genes into patient-specific iPS cells for use in cell therapy.
Read the PubMed abstract

To read more about "Beta-thalassemia"

Nat Biotechnol ; 73-78 ; 29 January 2011

Patient Management and Therapy

Retroperitoneal fibrosis: combined prednisone and mycophenolate mofetil potentially effective
In this small case study of 28 patients with retroperitoneal fibrosis, patients were given prednisone, 40 mg/d, tapered over 6 months, and mycophenolate mofetil, 1000 mg twice daily, for a mean of 24.3 months. Systemic symptoms resolved in all patients; 89% had a 25% or greater reduction in periaortic mass. Elevated erythrocyte sedimentation rate and serum creatinine level and decreased haemoglobin level normalized in all patients. Disease recurred in 2 of 28 patients. Combined prednisone and mycophenolate mofetil therapy is a potentially effective treatment for retroperitoneal fibrosis, warranting evaluation in randomised trials.
Read the PubMed abstract

To read more about "Retroperitoneal fibrosis"

Ann Intern Med ; 31-36 ; 4 January 2011

Orphan Drugs

A discrete-choice experiment finds that rarity alone is not enough…
Citing the “…virtual vacuum of evidence regarding the views of the public regarding … a special status for drugs used to treat orphan diseases,” the authors of a new study, published in the review Health Economics, Policy and Law created a pilot study utilising a discrete choice experiment in order to capture individual preferences when it comes to public funding for drugs used to treat rare diseases. Working with three particular questions: “(a) other things equal, are individuals willing to have the government pay more for drugs used to treat rare diseases than drugs used to treat common diseases; (b) other things equal, are individuals willing to have government pay more per life-year gained for a rare disease than for a common disease; and (c) in making recommendations regarding public coverage, do individuals place the same relative weights on attributes across rare and common diseases?” the study findings proved to be consistent with the UK’s Citizen’s Council of the National Institute for Health and Clinical Excellence (NICE) which “recommended that the National Health Service pay higher prices for ultra-orphan drugs … provided that in addition to being very rare, the disease is severe, life-threatening, and there is evidence of health gain from treatment (NICE Citizens Council, 2004)”. Similarly, in the current study, the authors found that “…rareness itself does not justify special consideration, but rather that severity, established evidence of effectiveness and the life-threatening character of the disease weighed more heavily”.
Consult the PubMed abstract

COMP approves first designations for fragile X and MNGIE syndrome treatments at January meeting
For the first time, an active substance has received an orphan designation in the EU the treatment of fragile X syndrome. And in another first, a positive opinion for orphan designation was adopted for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to thymidine phosphorylase deficiency. There is no treatment authorised in the EU for either of these conditions. In all, the European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 10 positive opinions issued at the January 2011 COMP meeting for the treatment of:

- mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) due to thymidine phosphorylase deficiency
- fragile X syndrome
- peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated)
- pancreatic cancer
- haemophilia A
- familial amyloid polyneuropathy
- multiple myeloma
- inhalation anthrax disease
- soft tissue sarcoma
- prevention of cytomegalovirus (CMV) disease in patients with impaired cell mediated immunity deemed at risk

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


Partnersearch, Job Opportunities
Cystic Fibrosis Europe has a vacancy for an Operations Manager
Cystic Fibrosis Europe (CFE) is the European federation of national cystic fibrosis patient associations. CF Europe forms a network for European collaboration and action, striving for better and longer lives for all CF patients in Europe. The priority is on better and more accessible care. CFE offers a challenging full-time job in an international and dynamic environment based in Brussels or Bonn. An equal opportunity employer, CFE offers flexible working hours.

The main tasks of the Operations Manager are:
- providing support to the CFE board in terms of administrative and financial reporting
- managing the administration of CFE
- organising and coordinating CFE projects and programmes
- follow-up on EU health policy, research and actions in the field of CF
- fundraising
- managing contacts with the media
- coordinating the building of a new website and maintaining and updating its contents
- managing and coordinating the CFE participation in EU supported projects

- minimum education Bachelor degree (BSc or BA /BAC +3/ Fachhochschule)or equivalent level based on demonstrable working experience
- good command of spoken and written English
- skilled in the use of Microsoft Office
- basic knowledge of accounting and financial reporting
- self driven and stress resistant
- excellent communication skills
- willing to travel several times a year
- a healthy dose of idealism
- a desire to make a difference
- demonstrable (voluntary) experience or affinity with patient organisations is considered a plus.

Interested persons should mail a motivation letter and CV to karleen@muco.be before 15 February 2011.

GSK offers internship position in its rare disease unit

GlaxoSmithKline (GSK) Rare Diseases is opening an internship position to provide support to its commercial development activities by conducting an analysis of the opportunities to develop and commercialise a range of orphan drugs in a selection of countries worldwide. The preferred education background includes diplomas in both science and business studies, with a keen interest in rare diseases and orphan drugs. Fluency in English is a pre-requisite and fluency in a non-European language is a strong plus. The intern will be working from GSK headquarters in Brentford, England, for 3 to 6 months, under the supervision of the GSK Rare Diseases Business Analysis Director. Compensation will be granted, and its particulars will be discussed with the applicant directly. Please send CV and application letter directly to Adrien.a.lemoine@gsk.com


News from the Patients' Associations
New guides for chromosomal disorders available from Unique charity

UK-based charity Unique has been gathering information on specific chromosome disorders for almost 25 years and since 2003 has been producing family-friendly, medically-verified, disorder-specific information leaflets (learn more.) To date, Unique has published over 125 guides on individual chromosomal disorders, which are available free of charge, and frequently in other languages including Dutch, French, German and Spanish. The Unique newsletter reports that for many families, the leaflets are the first concrete source of information obtained for a specific disorder. Now another new guide, entitled After Diagnosis: What Happens Next? The Early Years, targets parents of pre-school children (0 to 4 years) with a rare chromosome disorder and/or global developmental delay. This guide responds to questions relevant to parents of a newly-diagnosed infant everywhere, and also lists resources available in the United Kingdom for affected children and their families. Other recently published Unique leaflets include 2q37 deletions in adults and adolescents, and 5q14.3 deletions. Upcoming publications include 22q11.2 deletions, 7q21q32 deletions, and 45,X/46,XY. Finally, the Unique 7q11.23 microduplication guide has been updated.


Courses & Educational Initiatives

Course on practical clinical, radiological and pathological diagnosis of skeletal tumours
Organised by the European network of excellence EuroBoNeT in collaboration with Leiden University Medical Center and taking place from 14-16 February 2011in Leiden, the Netherlands, this course will focus on the use of clinical and radiodiagnostic data, and the pathological differential diagnosis of bone tumours. Practical training in the form of computerised microscopy training and discussion of relevant molecular biology techniques will form the core of the course. Orthopaedic surgeons, (trainee) pathologists, radiologists, clinical oncologists and paediatricians will particularly find this course useful.
For further details

Rare Solid Cancers: An Introduction
Organised by the European School of Oncology in collaboration with the Rare Care project. This course, being held in Stresa, Italy from 31 March – 1 April 2011, will focus on all the main rare solid cancers of the adult. Rare cancers present particular challenges, such as organisation of care and methodology of clinical studies. Oncologists, epidemiologists and health administrators will particularly find this course useful.
For further details

European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
This ten-day course held in February/March each year is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organised by the European Cytogeneticists Association and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. For further details
ESH Enerca Training Course on Haemoglobin disorders: Laboratory diagnosis and Clinical Management
In association with the Thalassaemia International Federation, this course, being held from 1-2 April 2011 in Brussels, Belgium, will address: Thalassaemias - Clinical and Molecular Aspects; Laboratory Diagnosis in Thalassaemia Syndromes; Sickle Cell Disease: Clinical Aspects; Abnormal Haemoglobins; Epidemiology of Haemoglobin Disorders; and more.
For further details

Update in Neuromuscular Disorders
Being held from 13-16 June 2011, at the Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, in London, this established paediatric and adult course is now in its fourth year. Topics to include: What’s new in Duchenne muscular dystrophy?; Cognitive and behavioural profile of Duchenne MD; Psychological effects of participation in clinical trials; Cardiac involvement in neuromuscular disease; Congenital muscular dystrophies; Mitochondrial disorders – classification and genetic basis; and much more.
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?

2nd Annual Commercialisation & Market Access Strategies for Orphan & Ultra-Orphan Drugs
Date: 17 February 2011
Venue: Barcelona, Spain

The commercial event will be focused on orphan therapies and will guarantee all participants access to today’s most relevant case studies and views which directly affect their future business plans and can assist them to maximise market and patient access.
For further details

3rd International Adrenal Cancer Symposium: From Molecular Pathogenesis to Clinical Outcome
Date: 17-19 February 2011
Venue: Wurzburg, Germany

Adrenocortical carcinoma (ACC) is a rare malignancy with poor prognosis. As a rare disease its molecular pathogenesis is still incompletely understood. Patients often suffer from delayed diagnosis and from insufficient follow-up. Treatment options remain unsatisfactory. This event aims to better understand the molecular mechanisms underlying ACC and to further improve patient care.
For further details

Fourth Berlin Conference on IP in Life Sciences: Rare Diseases – Blockbusters in the Niche
Date: 18 February 2011
Venue: Berlin, Germany

Leading experts in the field will share their knowledge on how to successfully bring orphan drugs to the market. This commercial event is of particular interest to representatives from biotech and pharmaceutical companies, researchers, business developers, clinical trial- and marketing experts, as well as investors, advisers and patent lawyers.
For further details

EUROPLAN Final conference
Date: 25 February 2011
Venue: Rome, Italy

The Final EUROPLAN Conference will present the main results obtained in the framework of the EUROPLAN project and will discuss further steps in the sector of the strategic national planning for rare diseases. The EUROPLAN coordinator, partners and invited speakers will illustrate the EUROPLAN Recommendations (focused on seven intervention areas reflecting the EU Council Recommendations), EUROPLAN Indicators (selected to monitor the implementation of national plans and strategies), and main results and suggestions from the national conferences organised by EURORDIS and the National Alliances of 15 European Member States.
For further details

4th International Symposium on Pulmonary Rare diseases and Orphan Drugs
Date: 25-26 February 2011
Venue: Milan, Italy

This event will explore issues in rare lung diseases and the development of orphan medicinal products and other therapeutic options for these disorders.
For further details

Third International Symposium on Paediatric Movement Disorders
Date: 25-26 February 2011
Venue: Barcelona, Spain

This event aims to continue the collaborative activities between professionals interested in paediatric movement disorders, mainly neurologists and neuropaediatricians. As in the previous symposiums qualified experts in the different aspects involved in paediatric movement disorders will increase knowledge, and serve to establish interesting contacts and develop creative ideas. Some newly recognised and treatable inborn errors of metabolism that may present with movement disorders in childhood (i.e. Glut-1 Deficiency, Cerebral Folate Deficiency and Dopamine Transporter Defects) will be presented.
For further details

Genetic Diseases of Children…Advancing Research & Care
Date: 7-9 March 2011
Venue: NY, USA

The conference will bring together over 1000 researchers, clinicians, affected families, government and industry leaders for the purpose of advancing research to improve health outcomes for children with genetic diseases.
For further details

Second ASID Congress of the African Society for Immunodeficiencies
Date: 10-13 March 2011
Venue: Hammamet, Tunisia

This second congress 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

Human Genome Meeting 2011: Genomics of Human Diversity and Heritable Disorders
Date: 14-17 March 2011
Venue: Dubai, United Arab Emirates

Including symposia on the Genetics of Heritable Disorders; Cancer Genomics; Inborn Errors of Metabolism and Therapy of Genetic Disorders; Computational Biology and Statistical Genetics for the Analysis of Human Disease; Genetics of Deafness & Neurologic Disorders; and Advances in Genetics of Heritable Disorders.
For further details

11th International Congress of the European Society of Magnetic Resonance in Neuropediatrics
Date: 24-26 March 2011
Venue: Amsterdam, Netherlands

Bringing together neuroscientists, paediatric neurologists, scientists interested in developmental paediatrics, neonatologists, neuroradiologists, neuropsychologists, neurophysiologists and physicists to discuss the newest developments in advanced neuroimaging and image guided therapeutic approaches in the fields of normal and abnormal brain development and brain functions, which will be presented by internationally recognised experts.
For further details

CliniGene Network of Excellence: Gene Transfer and Therapy: State of the Art and eCHiPS - European Conference on Human iPS
7-9 April 2011
Paris, France

In the first part of this event the latest clinical data will be presented and the CliniGene platform leaders will report on the outcome and integration of various technologies. The eCHiPS - European Conference on Human iPS, organised jointly with several EU-networks, aims to offer an open forum gathering specialists with expertise reprogramming techniques, iPS markers, quality controls, industrial production, GMP constraints, clinical perspectives, predictive toxicology and high throughput screening, standardisation and regulation among others. The goal of this pivotal meeting is to promote a broader European collective action on iPS cells.
For further details

World Orphan Drug Congress USA 2011
Date: 13-15 April 2011
Venue: Washington DC, USA

This commercial event will bring together industry leaders, government, and research organisations to address the opportunities and challenges for the commercialisation of drugs to treat rare diseases.
For further details

Awakening Australia to Rare Diseases: Global perspectives on establishing a coordinated approach to a national plan
Date: 18-20 April 2011
Venue: Freemantle, Western Australia

This symposium will bring international experts on rare diseases together with stakeholders nationally to work towards a rare disease strategy for Australia.
For further details

Fourth International Congress of Myology
Date: 9-13 May 2011
Venue: Lille, France

Close to 1,000 participants coming from the five continents are expected to attend this conference to obtain an update on the scientific and medical advances made in muscle science and its related disorders. Two days will focus on fundamental science and two days on clinical research. The event will provide an opportunity to learn more about the numerous therapeutic avenues being explored and by the emerging clinical trials.
For further details

The Third Birt-Hogg-Dubé Symposium
Date: 11-12 May 2011
Venue: Maastricht, Netherlands

The aims of the Third Birt-Hogg-Dubé (BHD) Symposium are to communicate advances in the understanding, management and treatment of BHD syndrome and, for the first time, of hereditary leiomyomatosis and renal cell cancer (HLRCC), as well as to promote collaboration among researchers in these and related fields. Keynote talks, abstract presentations and a poster exhibition will cover basic and clinical research in BHD and HLRCC. Prizes for exceptional posters will be awarded. Additionally, there will be patient- and family-centred sessions. Deadline for abstract submissions: 15 March, 2011.
For further details

12th International Conference on Thalassaemia and the Haemoglobinopathies
Date: 11-14 May 2011
Venue: Antalya, Turkey

The main topics will include epidemiology and prevention; heart and vascular abnormalities; reproduction and pregnancy; quality care for quality of life; other haemoglobin disorders; haemopoietic stem cell transplantation; gene regulation and therapy; and much more. Deadline for abstract submission: 15 February 2011.
For further details

Ninth European Paediatric Neurology Society Congress
Date: 11-14 May 2011
Venue: Cavtat (Dubrovnik), Croatia

The programme includes basic neuroscience and neurobiology, new treatment approaches in muscular disorders, neuro-othology and neuro-opthalmology, advanced critical care and ethics in paediatric neurology as well as practical clinical knowledge in the skills of electroencephalography and electromyography via comprehensive workshops.
For further details

First International Symposium on Childhood, Adolescent and Young Adult Hodgkin Lymphoma
Date: 12-14 May 2011
Venue: Arlington, Virginia USA

This event seeks to: provide a platform for global collaboration; establish networks of multidisciplinary caregivers; identify leaders for specific projects; promulgate tools for communication and collaboration; and develop standards of care for children with HL.
For further details

Fifth Meeting on the Molecular Mechanisms of Neurodegeneration
Date: 13-15 May 2011
Venue: Milan, Italy

This International Congress is the Fifth Meeting of the series dedicated to the Molecular Mechanisms of Neurodegeneration in hereditary diseases. As in the previous edition, the Meeting is aimed at stimulating new and productive interactions among basic and clinical research groups involved in this exciting area of human genetics.
For further details

3rd Symposium on Disorders of Sex Development
Date: 20-22 May 2011
Venue: Lubeck, Germany

Disorders of Sexual Development (DSD) constitute a group of rare, mostly heritable disorders affecting the genito-urinary tract and in most instances also the endocrine-reproductive system. This symposium “From Gene to Gender” looks at what has been learnt and what is still needed. Sessions will focus on genetics, hormones and actions, phenotype modulation, clinical aspects and more.
For further details

Ninth Hereditary Hemorrhagic Telangiectasia International Scientific Conference
20-24 May 2011
Antalya, Turkey

This biennial conference, held since 1996, is attended by a multi-disciplinary, international group of clinicians, researchers and patient association representatives with the goal of advancing research and discoveries through multi-disciplinary "cross-fertilization" and international collaboration. An attendance of approximately 300 is expected.
For further details

VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2011)
Date: 21-23 May 2011
Venue: Tokyo, Japan

A global meeting on international cooperation and public health policies focussing on research, diagnosis, development of and access to treatment and care for rare diseases. The programme for this conference will be available shortly.
For further details

Eighth European Cytogenetics Conference
Date: 2-5 July 2011
Venue: Porto, Portugal

This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other. Deadline for abstract submission: 28 February 2011.
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VI Cornelia de Lange Syndrome World Conference
Date: 27-31 July 2011
Venue: Copenhagen, Denmark

Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
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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

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. Deadline for abstract submission: 28 May 2011
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

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


Press & Publications
The Woman who Walked into the Sea – the history of Huntington disease in America

This poignant page-turner, which won an American Medical Writers Association Medical Book Award in 2009, begins with the tale of Phebe Hedges, member of a prominent East Hampton (New York) family affected by what at the time was referred to as St. Vitus’ dance. In the early nineteenth century, when Phebe Hedges simply “walked into the sea” to escape the dread of inheriting a chronic, progressive disorder frequently mistaken as drunkenness, or merely madness, the reaction in the local community was mixed, and Huntington disease was alternately tolerated, shunned or feared. This book charts the history of Huntington disease in America, through the shadowy years of eugenics to the brighter era of scientific and medical advancement. Author Alice Wexler, whose own mother died of Huntington disease (described in the memoir Mapping Fate), writes with eloquence and authority on the shifting terrain of an inherited disease.

Title: The Woman Who Walked Into the Sea: Huntington's and the Making of a Genetic Disease
Author: Alice Wexler
Publisher: Yale University Press
ISBN-13: 978-0300105025


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, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
National Contact Point: Till Voigtländer (Austria), 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 European Union Committee of Experts on Rare Diseases
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