10 October 2007 print
EU Policy News
Nat Pol News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Partnersearch, Job Opps
Patients' Associations
What's on?
Press & Publications
Subscribe / Unsubscribe

Europe on the move: Italy establishes a Council for Rare Diseases
while Catalonia forms Rare Diseases Working Group

The Italian Health Minister, Livia Turco, has established the Council for Rare Diseases, composed of 34 representatives from different associations. The Council is affiliated with the National Centre for Rare Diseases of the Istituto Superiore di Sanita. The aim of the Council is to strengthen links and synergies among organisations that safeguard the Rare Diseases Network present in Italy. The themes targeted as focal points for initiatives in coming months include the simplification of procedures for diagnosing disabilities; management and continuity of assistance; reinforcement of the network of centres for rare diseases throughout the entire national territory; funding for research; formation for general practitioners; and shorter time to first diagnosis. The Italian National Centre for Rare Diseases presented a multicentric national project entitled Effective Communication and Counselling: Improving Listening in Rare Diseases. This project is a pilot experience of collaboration between voluntary organisations and health operators engaged in treating rare diseases. The scientific leader is Dr Simonetta Pulciani. The priority actions of the project to be accomplished in a two year period include the following: developing communicative-relational competences for different professional profiles, with a specific reference to counselling intervention; and favouring the sharing of different professional experiences for a real and proactive collaboration amongst colleagues within single services (team work) and amongst service operators active in the entire national territory (network work).

In another corner of our continent, the Catalan health ministry is responding to the rare disease patient needs survey that they funded late last year. Catalonia is an autonomous region of Spain with some 8 million inhabitants. The political, health and financial systems operate largely on an autonomous basis. Within this context, an investigation into the needs of rare disease patients was conducted between September 2006 and February of this year. The project has resulted in the comprehensive document, Assessments of needs and initiatives in Catalonia: A Spanish Regional Experience, containing information furnished by 24 patient associations, as well as families, care givers, and medical professionals, comprising in all 76 different resources that contributed to the effort. It represents the first attempt to define the needs of rare disease patients and their caregivers in the region. Using a qualitative approach, authors Maria Mena, Dr Marga Pla and Pr Josep Torrent-Farnell, all from the Dr Robert Foundation-UAB, sought to evaluate patient access to health, education, mobility, and other resources. The needs of the patient were juxtaposed with potential actions that would meet those needs. Increasing awareness, both amongst society and professionals, emerged as a major need, with the possibility of establishing an information policy within the region as a potential corresponding action. Access to medical care was underscored, but with an emphasis on the need to shift from an exclusively medical perspective toward an approach that would address the general quality of life for the patient, encompassing significant social factors. Creating protocols that combine medical needs with social and psychological elements was recommended as a potential action. Increased support for caregivers was another important point that emerged. In terms of economic support, new orphan drugs remain the number one priority, but state-supported interventions, such as medical devices, or special state insurance schemes for products not usually reimbursed (patients who need special dietary products or skin creams, for example) were also mentioned. Adapted housing was another need that could perhaps be subsidised by government. Finally, the need to promote rare disease and orphan drug research at the state level but also in collaboration with Spain and at the European level was highlighted. The document was presented to the Catalan ministry of health last month. Since then, a Working Group has been established, composed of government, professionals, and patients ready to prioritise the many elements that emerged in the report. Patients want to see a continuum from diagnosis, through primary care, special care, and incorporating the various social elements that will ensure quality of life for Catalan’s rare disease patients and their families. The outcome of this report is leading to a Catalan Plan of Action that will take the French plan as its general model.


EU Policy News
Genetic testing protocol draft presented to Council of Europe decision body
The Steering Committee on Bioethics (CDBI) of the Council of Europe approved the draft Additional Protocol to the Convention on Human Rights and Biomedicine concerning genetic testing for health purposes on 8 June 2007. On 26 September this draft was presented to the Committee of Ministers (the decision body of the Council of Europe) who asked the Parliamentary Assembly, representing the national parliaments of the 47 Council of Europe Member States, to give an opinion. The draft document provides several general provisions concerning the primacy of the human being, non-discrimination, quality of services, clinical utility and medical supervision in genetic testing.
EMEA Paediatric Committee elects its first chair and vice chair
The European Medicines Agency (EMEA) has announced the election of the first chair and vice-chair to its recently-formed Paediatric Committee. Dr. Daniel Brasseur, from Belgium, and Professor Gerard Pons, from France, will each serve a three-year mandate that began on 26 September, as chair and vice-chair, respectively. The EMEA established the Paediatric Committee within the context of new European regulation on paediatric medicines that entered into force on 26 January of this year. The regulation is designed to stimulate research and development of medicines for use in children, ensure that medicines for children are appropriately tested and authorised, and improve information availability. The Paediatric Committee, made up of scientific experts within the EMEA, has as its primary responsibilities the assessment and agreement of paediatric investigation plans, waivers and deferrals.

National & International Policy Developments
HFEA approves cybrid research in the UK
In the UK, the Human Fertilisation and Embryology Authority (HFEA) has in principle decided in favour of cytoplasmic hybrid research - known as ‘cybrid’ research – following a public consultation launched earlier this year that yielded a majority of respondents agreeing with the novel process that involves creating embryos containing both human and animal material for research purposes. The HFEA stated that there is “no fundamental reason to prevent cytoplasmic hybrid research” and that “individual research teams should be able to undertake research projects involving the creation of cytoplasmic hybrid embryos if they can demonstrate, to the satisfaction of an HFEA licence committee, that their planned research project is both necessary and desirable.” Two research teams that have submitted applications for employing the approach are expected to receive licenses to carry out their work. The Times newspaper reported a third application in the works from scientists focussing on motor neurone disease. Cybrid-based research has significant potential for many rare disabling conditions that are currently incurable or untreatable. Current draft legislation issued by the UK Department of Health generally forbids inter-species development but would make an exception for particular uses, including cybrid research.
WHO releases paediatric medicine safety document
The World Health Organization has released a document entitled Promoting safety of medicines for children. The publication provides an overview of the current state of paediatric medicine usage and provides several key recommendations for developing indications specifically for children and diminishing adverse effects from medicine usage in children. Although both the EU and the US have recently established legislation addressing paediatric medicine development and use, many areas around the world remain largely unregulated. Article 2.5 of the WHO document specifically mentions the obstacles related to drug development for rare indications. Exposure (medicine) registries and sentinel sites were mentioned as being particularly useful for orphan medicine products, for which less conventional approaches might be required and considered acceptable for evaluating potential medicine toxicity and for identifying adverse effects in cases with few patients available for analysis. The WHO document is intended for policy-makers, industry, regulating agencies and researchers.
Other European news
Swedish poll shows overwhelming support for RD patient
A recent story in the morning edition of Swedish newspaper Svenska Dagbladet reported a decision made at the Karolinska University hospital to cease treatment for a Hunter syndrome patient that was costing some ten million Swedish kronor (1.86 million euros) per year. In Sweden, reimbursement is decided at the hospital level for some orphan medicines. Hunter syndrome is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. It is present at birth in between 1/72 000 and 1/132 000 males. Characteristics are often severe, and include hernias, facial dysmorphism, hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs. Svenska Dagbladet published a second news article in the afternoon, which included a poll querying whether readers agreed with the decision to terminate treatment. Almost 50,000 citizens took the time to respond, of whom some 89% disagreed with the action to terminate the patient's treatment. In a third article published later the same day, the Swedish Minister for Social Affairs declared that he had requested the hospital to continue treatment for two more months, during which time an investigation will be made to find a solution for this patient as well as others in a similar situation. The upcoming EPPOSI workshop, taking place in neighbouring Denmark on 18-19 October, is dedicated to finding ways to resolve just this kind of difficult scenario.
Free home assistance for Italian haemophilic patients
The Home Clinical Assistance project was presented in Rome during the Home assistance, an Opportunity for Rare Diseases (L'assistenza domiciliare, un opportunita per le Malattie Rare) convention, organised by the Giuseppe Dossetti Cultural Association. Developed by Baxter Italia, the project foresees the employment of a team of ad hoc trained nurses. Haemophilia is a rare genetic disease that requires factor VIII replacement therapy. The drug agency, with twenty years of experience in the field, would provide Home Clinical Assistance service to haemophilic patients, in collaboration with the Haemophilia Centres and local authorities. Claudio Giustozzi, general secretary of the Dossetti Association, reiterates that even though rare diseases are not common, they are no less important and must not be forgotten. According to the most-recent evaluations, at least two million Italians are affected by diseases that have not been recognised by the national health agencies. For this reason, the Dossetti Association has proposed to Parliament five bills in support of patients affected by rare diseases.
New genetic information telephone and internet service in Italy
An internet and telephone genetic information service in Italy has been established at the Burlo Garofolo maternal-infant hospital in Trieste. The service provides easy access to genetic information for professionals and the public. To contact practitioners and geneticists in the hospital, clients can visit the website and send an e-mail. A telephone service is also available. The new instrument makes it possible to contact experts and receive immediate responses to simple requests including the coordinates of Italian centres specialising in specific diseases, setting up appointments for examinations, and certain technical indications. This service also offers legal advice related to medical problems. The portal, divided into one section for the public and another for specialists, was developed under the supervision of Burlo Garofolo genetics director, Paolo Gasparini, and has the support of a scientific committee composed of some notable Italian geneticists, including Andrea Ballabio, Antonio Cao, Bruno Dallapiccola, Paolo Gasparini, Achille Iolascon, Lucio Luzzatto, Pier Paolo Mastroiacono, Vincenzo Nigro and Giovanni Romeo. The portal is the first in Italy to offer a free assistance service, featuring direct telephone contact with a specialist and the possibility to consult a law firm for legal or ethical questions concerning genetic testing.
Other International News
US non-profit formed to further gene therapy for orphan diseases
Asklepios BioPharmaceutical, Inc., (AskBio) has announced the creation of the Chapel Hill Project, a non-profit organisation created to further development of cell and gene therapies for orphan diseases. Askbio will provide the Chapel Hill Project with access to its Biological NanoParticle (BNP) and Self-Complementary Vector technologies with no up-front cost. The Chapel Hill Project will make this technology available to researchers for use in developing novel treatments for orphan disease indications. The Chapel Hill Project hopes to eventually serve as a depository for intellectual property that can be used for the development of cell and gene therapies for orphan diseases with other companies contributing the use of their DNA-based technologies in order to speed the advancement of orphan disease therapeutics to the market. Recombinant adeno-associated virus (rAAV) has become a successful gene-delivery vector for a multitude of targets due to its "non-pathogenic properties and absent immune response, ability to maintain efficient and long-term expression, and ease of genetic manipulation". AskBio has developed a library of rAAV Biological Nano Particles.

Orphanet News
New Texts
New Orphanet Journal of Rare Diseases publications
Idiopathic (primary) achalasia
Hereditary sensory and autonomic neuropathies: types II, III, and IV
Aorto-ventricular tunnel

New Research Projects open for Recruitment
BUILD 3-Effects of bosentan on morbidity and mortality in patients with Idiopathic Pulmonary Fibrosis - a multicenter double-blind randomized placebo-controlled, parallel group, event-driven, group sequential, phase III study (In France)
The same test in Germany
The same test in Austria
The same test in Denmark
The same test in Slovakia
The same test in Switzerland
The same test in Belgium
The same test in the Netherlands
The same test in Italy
The same test in Spain

Open-Label Phase Ib, Dose-ranged, Single and Multiple Dose Study to assess Safety and Pharmacokinetics of TRO19622 in 6-20 year old Spinal Muscular Atrophy (SMA) patients (France)
A Phase I/II Study of CP-4055 in Patients With Refractory/Relapsed Hematologic Malignancies (France)


New Syndromes
Microdeletion syndrome identified in 16p11.2-p12.2
Four individuals with a microdeletion discovered in 16p11.2-p12.2 present with intellectual deficiency, developmental delays, small size, facial dysmorphia, cardiac anomalies, hand and feet malformations, feeding difficulties and hypotonia, constituting a previously undescribed syndrome.
Read the PubMed abstract

Nat Genet ; 1071-1073 ; September 2007

New Genes
Mutations in a RAS pathway gene cause a phenotype resembling neurofibromatosis type 1
Five families present with café-au-lait spots, axillary freckling, macrocephaly, and in some patients, a dysmorphia similar to Noonan syndrome. This phenotype, resembling neurofibromatosis type 1, is autosomal dominant. The authors identified mutations in SPRED1 gene, encoding negative regulators of the RAS-MAPK pathway, already implicated in neurofibromatosis and Noonan syndrome.
Read the PubMed abstract

Nat Genet ; 1120-1126 ; September 2007
Monoallelic TREX1 gene mutations are linked to SLE
TREX1 gene is implicated in programmed cell death and both homozygous and heterozygous mutations have been discovered in patients with Aicardi-Goutieres syndrome and familial chilblain lupus, respectively. In these two pathologies, certain patients develop anti-nuclear antibodies, leading the authors to sequence TREX1 in patients with systemic lupus erythematosus (SLE), an auto-immune disease also characterised by the presence of anti-nuclear antibodies. Of 417 patients studied, nine presented monoallelic TREX1 mutations, absent in 1,712 controls.
Read the PubMed abstract

Nat Genet ; 1065-1067 ; September 2007
Heterozygous TREX1 mutations are involved in autosomal dominant retinal vasculopathy
Autosomal dominant retinal vasculopathies associated with cerebral leukodystrophy regroup three diseases: cerebral-retinal vasculopathy, hereditary vascular retinopathy, and HERNS syndrome. They display common retinal and cerebral anomalies leading to progressive vision loss and dementia. By sequencing 33 candidate genes localised on chromosome 3, the authors identified monoallelic mutations in the TREX1 gene in nine families. This study, along with the previous one cited directly above, confirm that this gene, implicated in programmed cellular death, is linked both to vasculopathies and auto-immune inflammatory diseases (SLE and chilblain lupus).
Read the PubMed abstract

Nat Genet ; 1068-1070 ; September 2007
Mutations in the mitochondrial arginyl-transfer RNA synthetase gene identified in pontocerebellar hypoplasia
Homozygosity mapping was performed in a consanguineous family with three members presenting severe infantile encephalopathy associated with pontocerebellar hypoplasia and multiple mitochondrial respiratory-chain defects. The researchers identified an intronic mutation in RARS2, the gene encoding mitochondrial arginyl-transfer RNA synthetase. Given the ubiquitous expression of the gene, the authors speculate that the mutation identified could specifically affect the brain due to a putative tissue-specific elevated vulnerability of the splicing machinery.
Read the PubMed abstract

Am J Hum Genet ; 857-862 ; October 2007
An altered WNT signalling pathway is linked to odonto-onycho-dermal dysplasia
This autosomal recessive syndrome is characterised by hyperkeratosis, hyperhidrosis of the palms and soles, hypodontia, nail anomalies and dry hair. The Franco-Lebanese research team identified homozygous mutations in WNT10A in six patients from three consanguineous families. This study is the first to link an altered WNT signalling pathway to an ectodermal dysplasia.
Read the PubMed abstract

Am J Hum Genet ; 821-828 ; October 2007
Homozygous mutation in SPATA16 is linked to globozoospermia
Globozoospermia is a rare form of masculine sterility characterised by round-headed spermatozoa that lack an acrosome. In this Holland-based study, the authors identified homozygous mutations in the SPATA16 gene in three brothers born into a consanguineous family. This is the first example of a nonsyndromic male infertility caused by an autosomal gene defect.
Read the PubMed abstract

Am J Hum Genet ; 813-820 ; October 2007
Glutamate receptor function loss is linked to autosomal recessive mental retardation
Autosomal recessive forms of nonsyndromic mental retardation are more common than X-linked forms, but have been less explored. A German-Iranian research team has identified a mutation in the ionotropic glutamate receptor 6 gene that causes total function loss of this receptor.
Read the PubMed abstract

Am J Hum Genet ; 792-798 ; October 2007

Research in Action
Fundamental Research
Harry C. Dietz and Roberta A. Pagon receive ASHG awards
Harry C. Dietz was awarded the American Society of Human Genetics 2006 Curt Stern award, honouring outstanding scientific achievements in human genetics. Dr. Dietz has been a major player in unraveling the genetic basis and pathophysiology of Marfan syndrome. Roberta A. Pagon, principal investigator of NIH-funded GeneTests, won the 2006 award for Excellence in Human Genetics Education for her work on the development of the GeneTests database. GeneTests and Orphanet have recently formed a partnership.
Clinical Research
Database for gene therapy clinical trials updated
The Gene Therapy Clinical Trials Worldwide database was first established in 1997 to gather global information on gene therapy trials. In July 2007, an update of the site was completed. To date, entries on over 1300 clinical trials taking place in 28 different countries have been stored. The interactive database is available on the Gene Therapy Clinical Trials Worldwide website, provided by the Journal of Gene Medicine (John Wiley & Sons, Ltd). The site furnishes data such as the number of approved, ongoing or completed clinical trials and can be sorted in various ways; by continent or country, indications addressed, vectors used, or gene types transferred. The interactive database permits searching trials by country, principal investigator, disease category, indication, vector used, gene transferred, gene type, clinical phase, trial status, or various dates.
BMP pathway genes are phenotype modifiers in haemochromatosis
Haemochromatosis is a disease characterised by an overload of iron due, at least in the large majority of the white population, to a C282Y homozygous substitution mutation in the HFE gene. Symptoms expressed by C282Y homozygotes are extremely variable, ranging from biochemical anomalies with no major clinical symptoms, to joint problems, cirrhosis, diabetes, hypogonadism, and cardiac anomalies. Studying 592 mutation carriers, the French research team linked the serum ferritin level to certain polymorphisms in the genes of the BMP pathway. Thus, the BMP pathway is a good candidate for identification of new modifier genes.
Read the PubMed abstract

Am J Hum Genet ; 799-807 ; October 2007
No genotype-phenotype correlation for Cowden and Bannayan Riley Ruvalcaba syndromes
Cowden syndrome and Bannayan Riley Ruvalcaba (BRR) syndrome are the two diseases most frequently observed in patients with mutations in PTEN gene. Both are characterised by multiple hamartomas, and present common clinical signs. One principal difference is the age of onset; BRR begins in childhood, while Cowden has adult onset. Analysing clinical data from 42 persons born into families carrying PTEN mutations, the British research team was not able to demonstrate a genotype-phenotype correlation. Consequently, the authors suggest that the surveillance of cancers recommended for Cowden syndrome should be integrated into the treatment management of children with BRR syndrome.
Read the PubMed abstract

J Med Genet ; 579-585 ; September 2007
PTEN mutation patients often present with vascular anomalies
Patients with mutations in the PTEN gene can develop two distinct conditions (Cowden syndrome and Bannayan Riley Ruvalcaba (BRR) syndrome; see the previous article). However, some patients present other symptoms such as macrocephaly or autism. In 26 patients carrying PTEN mutations, the authors observed the presence of vascular anomalies in over 50% of cases. The authors recommend PTEN mutational analysis for all macrocephalic patients with fast-flow vascular anomalies or multiple intracranial developmental venous anomalies.
Read the PubMed abstract

J Med Genet ; 594-602 ; September 2007
Journal features special section devoted to spinal muscular atrophy
The August issue of the Journal of Child Neurology is devoted to the subject of spinal muscular atrophy and contains the latest findings in terms of diagnostics, pathogenesis, patient management, treatment, genetic counselling, and future research directions.
Read the Table of Contents

J Child Neurology ; August 2007

Patient Management and Therapy
Reversal of hypogonadotropic hypogonadism in 10% of men following treatment cessation
Idiopathic hypogonadotropic hypogonadism, which may be linked to anosmia (Kallmann syndrome), is a treatable form of male infertility caused by a deficit of gonadotropin hormone. In a retrospective study, the authors demonstrated that in 10% of men treated with hormone therapy, reversal of the condition was sustained after discontinuing treatment. Brief discontinuation of this therapy is thus advised to assess whether reversibility of hypogonadotropic hypogonadism is possible.
Read the PubMed abstract

N Engl J Med ; 929-932 ; August 2007
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins shows promising results
Familial hemophagocytic lymphohistiocytosis is characterised by unremitting CD8 T lymphocyte and macrophage activation and leads to death in the absence of therapy. The French research team analysed the effects of a treatment based on the administration of antithymocyte globulins, corticosteroids, cyclosporine A and intrathecal injections of methotrexate in 38 patients. The treatment was found to be efficient, with an acceptable toxicity when used as a first treatment for familial hemophagocytic lymphohistiocytosis.
Read the PubMed abstract

Pediatrics ; e622-e628 ; September 2007
Is small bowel surveillance warranted for Lynch syndrome families?
Small bowel cancer is one of the tumours associated with Lynch syndrome, an autosomal dominant disease with a predisposition for cancer. The Dutch research team investigated whether surveillance was indicated by gathering data on 1496 proven or putative gene carriers of a DNA mismatch repair gene mutation. The lifetime risk of developing small bowel cancer was 4.2%. The authors estimate the risk is too low to merit invasive screening such as double ballon enteroscopy. Non-invasive screening such as videocapsule endoscopy might be considered if future studies demonstrate cost effectiveness.
Read the PubMed abstract

Gut ; 1198-1201 ; September 2007
Revisions to the staging and classification of mycosis fungoides and Sezary syndrome
The International Society for Cutaneous Lymphomas and the cutaneous lymphoma task force of the European Organization of Research and Treatment of Cancer recommends revisions to the Mycosis Fungoides Cooperative Group classification and staging system for cutaneous T-cell lymphoma. These revisions are made to incorporate advances related to tumour cell biology and diagnostic techniques as pertains to mycosis fungoides and Sezary syndrome since the 1979 publication of the original guidelines, to clarify certain variables that currently impede effective inter-institution and inter-investigator communication and/or the development of standardised clinical trials, and to provide a platform for tracking other variables of potential prognostic significance.
Read the PubMed abstract

Blood ; 1713-1722 ; September 2007

Orphan Drugs
Marketing authorisation recommended for chronic myelogenous leukaemia and renal cell carcinoma products
The CHMP has recommended marketing authorisation for Tasigna (nilotinib), from Novartis Europharma Ltd, for the treatment of Philadelphia chromosome positive chronic myelogenous leukaemia (CML). Tasigna is the 43rd orphan medicinal product to receive a positive opinion. EMEA review began on 25 October 2006 with an active review time of 200 days.

Marketing authorisation was also recommended for Torisel (temsirolismus), from Wyeth Europa Ltd, for the first-line treatment of renal cell carcinoma. Torisel is the 44th orphan medicinal product to receive a positive opinion. EMEA review began on 25 October 2006 with an active review time of 203 days.


Partnersearch, Job Opportunities
Call for investors for an orphan designation to be developed
APO200 is a recombinant fusion protein between the TNF domain of ectodysplasin and the Fc domain of human IgG1. Administration of this substance to newborn Tabby mice and to newborn dogs suffering from X-linked hypohidrotic ectodermal dysplasia (XLHED) largely corrects the features of the disease (i.e. development of sweat glands, of hair on different parts of the body, of permanent teeth and of mucus-producing tracheal glands). (See PMID 12692542 and Casal, ML et al. The American Journal of Human Genetics, in press).

APO200 has obtained an orphan drug designation from the EMEA and FDA. A manufacturing process suitable for the production of clinical lots of the APO200 drug substance has been successfully developed. Cell lines producing APO200 according to the ICH guidelines have been established.

Apoxis, the Lausanne, Switzerland-based biotechnology start-up that developed this product, has recently been acquired by TopoTarget, a Danish pharmaceutical company active in oncology. As the APO200 project is outside its core activities, Topotarget has decided to disinvest this asset. A spin-out entity, Edimer Biotech, funded by the scientific and the business development leaders of the APO200 project, is aiming at completing the pre-clinical development of APO200 and conducting a combined clinical phase I/II with this drug candidate. Financing of this venture is therefore being sought in order to support this development and to bring this treatment to XLHED human patients. For more information


News from the Patients' Associations
Jeans for Genes - an annual event
Did you wear your jeans on 5 October? The date marked the twelfth annual “denimisation” of the United Kingdom as supporters pulled on their blue jeans to raise money for children with genetic disorders. The money raised goes to researching the cause and treatments for disorders such as chronic granulomatus disorder, fragile X syndrome, mucopolysaccharide disease, Wolfram syndrome, Turner syndrome and many other conditions, as well as developing information and providing respite care and holidays for families affected by inherited conditions. Great Ormond Street Hospital Charity is amongst seven partner charity groups behind this year’s Jeans for Genes event.

What's on Where?
8th EPPOSI Partnering Workshop on Orphan Drugs
Date: 18-19 October 2007
Venue: Copenhagen, Denmark

This year's workshop is dedicated to exploring the topic The Reality of Orphan Medicines and will provide a platform for consensus building and the cultivation of partnerships between patients, academia, and industry as well as European and member state authorities in order to convert policy issues and scientific developments into therapies for rare diseases.
More details and to register now

3rd International Meeting on Congenital Disorders of Glycosylation
Date: 18-19 October 2007
Venue: Paris

This international meeting on CDG is preceeded by the 3rd Orphan Focus Course on "Protein Glycosylation in Health and Disease" on Oct 16-17.
For more details on the course
More details on the conference

Biology and Clinical Applications of Cord Blood Cells
Date: 19-21 October 2007
Venue: Paris, France
More details

Sixth Intl Conference: Improving the Use of Electromyography in Paediatrics
Date: 22-24 October 2007
Venue: London, England

Lectures, practical demonstrations, and discussion of case studies on the topics surrounding EMG in children, including hereditary and acquired neuropathies, pain management, and less common uses of neurophysiology.
More details

Nowgen's Faces of Manchester
Date: 22-26 October 2007
Venue: Manchester, England

A series of seminars on genetics and appearance, including Understanding Faces: Don't let the way I look affect the way you see me, during which a leading clinical geneticist discusses her work with families living with genetic conditions. Family Faces: Appearances can be misleading includes a family's experience of living with a serious genetic condition.
More details

Medicines For Rare Diseases: An Opportunity for Patients, Science and Industry
Date: 9 November 2007
Venue: Dublin, Ireland

The Irish Medicines Board, in conjunction with the Irish Platform for Patients Organisations, Science and Industry, will host this information conference addressing the development and regulation of orphan medicines.
More details

Euro-Ataxia AGM 2007
Date: 9-10 November 2007
Venue: Paris, France

Topics include advances in fundamental and clinical research, and promoting awareness in medicine, science and society.
More details

Second World Congress on Hypospadias and Disorders of Sex Development
Date: 16-18 November 2007
Venue: Rome, Italy

Topics include new insights in sex determination and differentiation; genes and sexual differentiation; gender assignment; medical management of DSD in the infant, child and adolescent; surgical approaches; and psychosocial management.
More details

2nd Pan Arab Human Genetics Conference
Date: 20-22 November 2007
Venue: Dubai, United Arab Emirates

Topics include ethical perspectives as well as a scientific programme including newborn screening, genetic disorders in Arab populations, complex and recessive disorders, premarital genetic screening, mutation detection, and establishing databases.
More details

First Egyptian-German Workshop on Disorders of Sex Development
Date: 24-25 November 2007
Venue: Cairo, Egypt

Topics include epidemiology, cytogenetic and biochemical analyses, molecular basis, diagnostic and therapeutic surgery, cultural and religious perspectives, and clinical managements.
More details

4th European Conference on Rare Diseases (ECRD 2007)
Date: 27-28 November 2007
Venue: Lisbon, Portugal

This important rare disease conference will be held in English and simultaneously translated into French, German, Portuguese and Spanish.
More details

15th Annual Meeting, Int'l ALS/MND Associations Alliance & 18th ALS/MND Int'l Symposium
Date: 1-3 December 2007
Venue: Toronto, Canada
More details

EuroGentest Workshop: Towards Accreditation-Managing the Human Side of Change
Date: 7-8 February 2008
Venue: Nice, France

Within the context of introducing quality management leading toward accreditation, this workshop addresses overall insights into the ‘human, behavioural’ side of change with techniques to manage this part of the change process, using case studies and role play to help apply these insights and techniques to real life situations.
More details

Fourth International Neuroacanthocytosis Symposium: Bridging Clinical and Basic Aspects
Date: 1-2 July 2008
Venue: Oxford and London, England

Including clinical aspects of chorea acanthocytosis and McLeod syndrome, muscle and nerve neuropathology and syndromes related to NA.
For further details


Press & Publications
A Spanish-language call for new approaches to rare diseases
The authors of Spanish-language study Rare Diseases: Chronic diseases that need a new approach appearing in Anales del Sistema Sanitario de Navarra propose a new health-social systems approach to the complex needs that rare diseases often impose upon patients and their care-givers.
Read the PubMed abstract in English

A rare disease as a model for bio-behavioural research
Bio-behaviourial science examines the relationship between biology and behaviour. A recent article in the journal Allergy Asthma Proceedings recounts the outcome of a working group from the National Institute of Nursing Research in the US that chose the rare disease allergic bronchopulmonary aspergillosis as a model toward developing recommendations on approaches for future biobehavioral research, with a special emphasis on methodology. Objectives included recommending frameworks or models to guide biobehavioral research, exploring approaches to encourage interdisciplinary biobehavioral research, and to describe the positive and negative aspects of biobehavioral research designs and instruments, which could be particularly useful for the many rare diseases that presently have no medicinal treatment available.
Read the PubMed abstract

Management of Genetic Syndromes 2nd Edition
The second edition of this important handbook, published in 2005, contains an A to Z of over fifty genetic syndromes, many of which are rare. Each chapter is written by an expert on the disorder treated.

Authors: Suzanne B. Cassidy and Judith E. Allanson, -Eds.
Publisher: John Wiley & Sons, 2005

Handbook of Developmental Disabilities
Including neuroscientific and genetic foundations, impact on health, learning and behaviour and effective educational and clinical practices.

Authors: Samuel L. Odom, Robert H. Horner, Martha E. Snell and Jan Blacher, -Eds.
Publisher: Guildford press, 2007



Orphanews Europe, the newsletter of the Rare Diseases Task Force
Orphanews Europe is supported by the European Commission's DG SANCO
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Claire Scharf-Kroener, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
For more information on the Rare Diseases Task Force
Orphanet - All rights reserved