9 April 2006 print
EU Policy
European Rare Disease Networks Update
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RDTF Meetings
 
Have you marked your calendar?
 
The fifth meeting of the Rare Diseases Task Force is scheduled for 8 June in Luxembourg. The agenda will be published in the next OrphaNews Europe newsletter.
 


 

 
Is the EU clinical trials directive hampering academic research ?
 
An editorial written by Finnish academic oncologists appearing in the 4 March issue of the BMJ, asserts that the European Union's clinical trials directive, implemented in 2004, has hindered academic research, resulting in fewer new trials being initiated, with less patients being enrolled, while, conversely, trial costs have soared. The authors also assert that trial initiation has become much slower due to an increased workload for ethics committees. They do acknowledge that engaging EU officials and contract research organisations has improved the process by reducing work that many clinicians do not have time to pursue, however. Finally, the authors state that different interpretations of the directive have resulted in an unsuccessful harmonisation across Europe. It is suggested that unconventional approaches and treatments that are not attractive to pharmaceutical companies for various reasons are suffering most. Indeed, several letters published in the BMJ in response to the editorial concur with the assertion, citing examples of academic research that has been thwarted by the demands of the EU directive. One such letter states that, “It has become almost impossible for academic researchers to initiate and conduct pharmaceutical trials without the involvement of a pharmaceutical company, particularly in areas that do not attract much funding…”.
 
EU unable to reach consensus on embryonic stem cell research funding
 
At a recent meeting, European Union research ministers were unable to reach agreement on how – or whether – human embryonic stem cell research projects should be funded under the upcoming Seventh Framework Programme (FP7) (2007 – 2013). Countries that currently forbid any form of embryonic stem cell research consider it unfair to have EU monetary resources going to an area of research to which their own countries would not contribute. Under the Sixth Framework Programme (FP6), research involving human reproductive cloning or the creation of human embryos for research or therapeutic cloning is excluded from EU funding, although research employing cells obtained from surplus embryos following fertility treatment is possible - though not guaranteed - providing parental consent is obtained. With no majority opinion emerging to swing current policy one way or another, the status quo system of taking funding decisions on a case-by-case basis will prevail for the time being.
 
EC asked to not reduce health research budget in FP7
 
According to a 9 March news report from CORDIS, the Community Research and Development Information Service, European stakeholders - including members of the European Parliament and national ministers - are arguing against a possible reduction in health research funding from the initial European Commission Seventh Framework Programme (FP7) proposal. The revised compromise proposal would increase the research budget by only 75% by 2013 compared with the 2006 level, while the initial plan would double the amount for health research to €8.3 billion between 2007 and 2013. A debate at the European Parliament on 7 March, entitled What place and priorities for European health research? sparked criticism over the absence of dialogue on health research priorities. The need for increased funding for European-level cooperation in certain areas of health research was evoked by several participants. The original FP7 proposal would accord health research the second highest budget allocation, following information and communication technologies.
 


 

 
DG SANCO
 
DG Sanco updates its rare diseases web pages
 
The Health and Consumer Protection Directorate General (DG Sanco) has revamped its rare diseases website section. The updated version details the efforts of the European Union in the framework of different EU rare disease projects. The site is considered an auxiliary tool for organisations interested in participating in the 2006 Call for Proposals that need an overview of current activities in this area. There are nine new sections added to the site: Identifying rare diseases; Estimated prevalence of some rare diseases; EU projects supporting cooperation between rare diseases organisations; EU projects creating networks of action for rare diseases; European Conference on Rare Diseases 2005; European Commission Task Force on Rare Diseases; Orphan drugs strategy; Other EU activities on rare diseases: rare diseases therapy research and human tissue engineered products; and Centres of reference for rare diseases.
Visit the updated pages:

 
http://europa.eu.int/comm/health/ph_threats/non_com/rare_diseases_en.htm
 


 

 
EMEA
 
Annual report shows increase in applications for orphan drug designation
 
During the European Medicines Agency Management Board’s 50th meeting, which took place on 9 March, the Agency’s 2005 annual report was adopted. There were 15 applications for marketing authorisation for orphan medicines during 2005, while applications for other medicine products were lower than expected. Applications for orphan drug designation were also strong, increasing to 118 for 2005, versus 108 for 2004 and 87 for 2003. Requests for scientific advice and protocol assistance grew by almost 60%. The Management Board also adopted the 2007 draft work programme and a preliminary draft budget that, if approved, would increase to €144.1 million from €126.6 million in 2006 and €111.8 million in 2005. The increase reflects the forecasted increase in applications and consequent growth in fee revenue. The Board also approved requests for 17 new staff positions for 2007. The 2005 annual report will be posted shortly on the EMEA website.
 
FDA and EMEA intensify medicine regulation cooperation
 
A meeting between the European Commission, the EMEA, and the US Food and Drug Administration (FDA) in Brussels on 13 March has resulted in an extension of the pilot phase of the EU-FDA confidentiality arrangement, which permits the EMEA and the FDA to exchange information on various issues, including orphan drug designation. It was agreed to increase transatlantic cooperation for rare disease medicines, amongst other areas. The cooperation has received positive feedback from both regulators and industry and has strengthened relations between the regulatory groups.
 
EMEA procedure for identifying paediatric needs
 
The Paediatric Working Party (PEG) at the EMEA is striving to identify existing research and development needs in various therapeutic areas of children’s medicinal products, whether involving old (such as off-patent) or new areas(including those under development). In this context, consultation is presently open for the following therapeutic areas: cardiovascular, chemotherapy, epilepsy, and immunology products. A series of questions concerning concurrence with existing data and any available additional information and/or needs will be distributed to all the parties consulted. Two scenarios are possible based on information collected: either the information gathered by the PEG will be extensively reviewed by a European Learned Society and the results ultimately published by the EMEA and the Society, or in the case where no such Society exists or is unable to complete the review tasks, the information gathered will be published in a summarised form by the EMEA with the goal of engendering feedback from concerned paediatricians, as well as members of industry and academia.
For more information:

 
http://www.emea.eu.int/pdfs/human/peg/17519205en.pdf
 


 

 
Other European news
 
UK develops embryonic stem cell research centre
 
The North West Embryonic Stem Cell Centre, a new research initiative, is getting underway in Manchester, England. A joint project between the University of Manchester, the Central Manchester NHS Trust, the University of Liverpool and the Patterson Institute for Cancer, the centre will develop human embryonic stem cell lines for treatment of a variety of diseases as well as tissue engineering and regenerative medicine. The project is funded by the North West Development Agency (£1.45 million) and the UK Medical Research Council (£.050 million).
 
France creates 'competitive cluster' for orphan drug development
 
Orphème, created from an alliance between French organisations Bioméditerranée and Holobiosud, has been designated a “competitiveness cluster” by the French governmental committee CIACT (Comité interministériel d'aménagement et de compétitivité des territoires). The clusters are designed to encourage French competition in the global market. One priority of Orphème will be rare neurological disorders, amongst other rare disease and general health issues. For more information contact Orphème vice president Dr. Jacquie Berthe.
 
Dutch Steering Committee on Orphan Drugs: five years onward...
 
The Dutch Minister of Health, Welfare and Sport (VWS) installed the Dutch Steering Committee on Orphan Drugs in 2001 for at least four years, in accordance with Article 9 of the European Regulation No. 141/2000 on Orphan Medicinal Products, which states that individual member states of the EU must implement measures to encourage the development of orphan medicinal products.

The construction of a national structure such as the steering committee was one of the suggestions made in 1998 by the Dutch Advisory Council on Health Research (RGO). The VWS Minister asked this council for advice on the coordination, priority and stimulation of research in the Netherlands in respect to orphan drugs.

Based on a positive evaluation of the steering committee activities, the Minister decided at the end of 2004 that the committee could continue for at least three more years (2005-2007).


Read the full report of the Dutch Steering Committee's activities, challenges and accomplishments in the past five years
 


 

 
Other international news
 
Clinical trial registration required for journal submissions
 
Members of the International Committee of Medical Journal Editors (ICMJE) have made an editorial policy change concerning article submissions involving clinical trials. Effective 1 March 2006, clinical trial registration is required with a public trials registry, such as Current controlled trials, ClinicalTrials.gov, CenterWatch or Orphanet before patient recruitment has commenced. The trial registration number must be furnished at the time of article submission. To further facilitate clinical trial transparency, the International Federation of Pharmaceutical Manufacturers and Associations (IFPMA) has launched an international portal, available in five languages – English, French, German, Spanish and Japanese – permitting easy access to registered ongoing clinical trials as well as completed trials. The updated user-friendly portal allows trials to be searched by disease names and synonyms.
 
FDA publishes initial Critical Path Opportunities List
 
The US Food and Drug Administration has released an initial list of priority research projects in its Critical Path Initiative, an endeavor designed to modernise the process of medical product development so that patients may obtain new medicinal products quicker and for less money. The Critical Path Opportunities List contains some 76 projects, amongst which, number 53 – the Natural History Databases for Rare Diseases. This initiative will record data of rare disease patients, in the hope that the information may help create disease models, better design clinical programmes and perhaps even contribute virtual historical control groups in an area of medical research often difficult to study due to the difficulty in enrolling adequate numbers of patients to clinical trials and the long duration of trials. Another project – number 47 – specifically works with virtual control groups for clinical trials, consisting of databases, models and/or imaging collections.
 
NIH contributes USD $24 million to US research network
 
The US National Institutes of Health’s National Center for Research Resources (NCRR) will provide some USD $24 million over a five-year period to the University of California at Irvine’s Biomedical Informatics Research Network (BIRN). A consortium of 28 universities and 37 research groups, BIRN is an ongoing major initiative concentrating on neuroimaging research, although the technologies developed will be applicable to other areas. Function BIRN is a component of the project that is developing and testing functional magnetic resonance imaging interdisciplinary techniques across multiple sites. The effort will ultimately permit researchers to accelerate discovery by providing the means to address complex questions and large-scale projects that have not been possible to date. Mouse BIRN, another element of the project, examines animal models of diseases; ongoing studies include Tourette syndrome, Pelizaeus-Merzbacher disease and adrenoleukodystrophy. The NCRR is planning on extending BIRN to other large-scale research collaborations. It is expected that BIRN will incorporate distributed computer resources, mechanisms to integrate interoperable software tools and data linkage via the federation of databases.
 
US study shows length of testing not responsible for high medicine prices
 
Researchers from the Mount Sinai School of Medicine in New York have published a study in the journal Health Affairs asserting that longer clinical trial periods are not responsible for the continuing increase in prescription drug prices. The study also found that orphan drugs typically take longer to develop, with a median length of 5.8 years. Another study in the journal shows that the United States produces almost half of all major new drugs introduced on the global market. Between 1993 and 2003, 55% of orphan drugs introduced for rare diseases worldwide were produced by US firms.
 
Innovative programme pairs medical students with patients
 
The University of Pennsylvania School of Medicine has created a unique, long-term programme that pairs medical students with chronically-ill patients for several years. The Longitudinal Experience to Appreciate Patient Perspectives (LEAPP) is designed to improve doctoring skills by enabling patients to better understand the patient experience by shadowing the patient for a three-year period. Several rare disease patients are involved in the programme, including ones with cystic fibrosis, classic haemophilia and sarcoidosis.

In a similar vein, Harvard Medical School is changing its third year curriculum for medical students. Formerly, students in their third year of training spent one-to-three month stints in different hospitals. Now, students will spend the entire year in one establishment, and will follow some patients throughout the year.

 
US parents to sue over inaccurate prenatal genetic risk assessment
 
The United States Ohio Supreme Court ruled to allow parents the right to sue over incorrect prenatal genetic screening results. In the “wrongful birth” decision, parents of an 8-year-old boy with a genetic disorder that renders him unable to speak or crawl, assert that had they received the correct information, they would have opted to abort the pregnancy. That assertion, however, lead the justice writing for the majority to note that the parents thus could sue only for costs associated with the pregnancy and birth of the child, versus suing for the costs of raising their son.
 
NORD to host banquet honouring milestones in rare disease treatments
 
Monday, 24 April has been set aside for a tribute banquet hosted by the US National Organization of Rare Diseases (NORD). Patient organisation representatives, government agencies, researchers and industry will gather for the annual event. Individuals, companies and government agencies have all been past recipients of accolades for their work in the fight for rare disease diagnosis and treatment. This year’s honourees include the Generic Pharmaceutical Association, the Biotechnology Industry Organization, the Pharmaceutical Research and Manufacturers of America, and John J. McCormick, MD, Deputy Director, Office of Orphan Products Development, U.S. Food and Drug Administration. Specific treatment developments meriting recognition include BioMarin Pharamceutical for Naglazyme, a treatment for Maroteaux-Lamy disease (MPS type VI), Celgene Corporation, for Revlimid, a treatment for myelodysplastic syndromes, Insmed Inc., for the development of IPLEX, and Tercica, Inc., for the development of Increlex, two new medicines for severe primary IGF-1 deficiency (e.g., Laron dwarfism), Novartis Pharmaceuticals, for the development of Exjade, a new oral treatment for chronic iron overload from blood transfusions required for certain anaemias and other disorders including thalassemia, sickle cell disease, and myelodysplastic syndromes.
 


 

 
EU project focus
 
ENERCA II
 
The primary objective of the European Network for Rare and Congenital Anaemias (ENERCA) is to contribute to improving the knowledge, diagnosis and treatment of rare anaemias (RA) in Europe.

Now ENERCA has entered into its second phase, following grant approval from the European Commission’s DG Sanco health programme (contract number 2004110). The project’s first phase ran from October 2002 to April 2004 (see the July 2005 issue of OrphaNews Europe).

To meet this goal, a website employing two distinct features was created to provide relevant information: a free-access section for patients, their families and the general public, and an extranet section with restricted access for the professional community. A further objective was to promote cross-border cooperation between experts in Europe in order to establish the basis for implementing the ambitious objectives of the project’s second phase.

ENERCA II debuted in September 2005 and will run for 36 months. Twelve experts from seven European countries consolidated international cooperation at the kick-off meeting that took place in Barcelona last November. Amongst the objectives determined for ENERCA II are the following: the establishment of referral laboratories and/or experts in order to provide the best professional assistance throughout the European Community; the creation and availability of easy-to-understand information for patients; the promotion of a medical alert card (MAC) for patients; and the facilitation of cross-border exchange of information between experts via the ENERCA on-line forum for professionals.

In terms of epidemiological surveillance, available data on RA in Europe will be evaluated and systematic neonatal screening for haemoglobinopathies will be encouraged in member countries without existing databases. Harmonized European training courses for professionals will be established in order to improve the understanding of molecular and genetic mechanisms of RA. Quality assurance will be circumscribed for laboratory diagnosis, prevention and clinical management of RA. The development of consensus European quality assessment schemes and guidelines is planned. Updating the website with the aim of adding to existing information in both the open-access and the extranet sections is underway. A fully revamped website will be available in July 2006.

 


 

 
New diseases & syndromes
 
New diseases and syndromes published on PubMed
 
MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34
 
Eur J Hum Genet ; Epub ahead of print ; 22 February 2006
 


 

 
New genes
 
New rare disease genes published on PubMed
 
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans
 
Nat Genet ; 300-302 ; March 2006
 
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
 
Nat Genet ; 343-349 ; March 2006
 
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
 
Nat Genet ; Epub ahead of print ; 26 February 2006
 
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
 
Science ; 1287-1290 ; 3 March 2006
 
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
 
Nat Genet ; 294-296 ; March 2006
 
Germline KRAS mutations cause Noonan syndrome
 
Nat Genet ; 331-336 ; March 2006
 
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
 
Nat Genet ; Epub ahead of print ; 26 February 2006
 


 

 
New fundamental research
 
New fundamental research published on PubMed
 
Absence of alpha7 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy
 
Hum Mol Genet ; 989-998 ; 15 March 2006
 
Suppression of polyglutamine-induced toxicity in cell and animal models of Huntington's disease by ubiquilin
 
Hum Mol Genet ; 1025-1041 ; 15 March 2006
 
A knock-in mouse model of congenital erythropoietic porphyria
 
Genomics ; 84-92 ; January 2006
 
Fat Aussie - A new alstrom syndrome mouse showing a critical role for AlMS1 in obesity, diabetes and spermatogenesis
 
Mol Endocrinol ; Epub ahead of print ; 2 March 2006
 
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy
 
Hum Mol Genet ; 839-851 ; 15 March 2006
 
A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria
 
Science ; 1621-1623 ; 17 March 2006
 


 

 
New clinical research
 
New clinical trials and research registered with Orphanet
 
SNT-III-001 Idebenone. A Phase III double blind, randomised, placebo-controlled study of efficacy, safety and tolerabillity of Idebenon in the treatment of Friedreich Ataxia

An international multi-centre trial

SPATAX - Autosomal recessive spastic paraplegia: identification of new genes and of mechanisms of degeneration

An international multi-centre trial

To register your interest in participating in a clinical trial visit Orphanet.

 
Clinical research results published on PubMed
 
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
 
Eur J Hum Genet ; 289-298 ; March 2006
 
Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
 
Neuromuscul Disord ; 132-136 ; February 2006
 
Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease
 
Blood ; 2279-2285 ; 15 March 2006
 
Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response
 
Nat Med ; 342-347 ; March 2006
 
Effect of fetal neural transplants in patients with Huntington's disease 6 years after surgery: a long-term follow-up study
 
Lancet Neurol ; 303-309 ; April 2006
 


 

 
New databases
 
Rare bleeding disorders database
 
Haemophilia A and B are the most frequent inherited bleeding disorders. Together with von Willebrand disease, a defect of primary haemostasis associated with a secondary defect in coagulation factor VIII (FVIII), these disorders include 95% to 97% of all the inherited deficiencies of coagulation factors 1. The other 3%-5% are represented by rare bleeding disorders (RBDs), the less common inherited disorders, including deficiency of fibrinogen, prothrombin, factors V, combined V+VIII, VII, X, XI and XIII. These disorders are inherited in an autosomal recessive manner and their prevalence is approximately 1:500 000 or less in the general population of western countries.

The natural history and spectrum of clinical manifestations of RBDs are not well established, since few centres in the world have the opportunity to see a significant number of these rare patients. There are a few RBD databases available on-line but most of them are national or focus only on molecular or clinical aspects of a single deficiency. None systematically collects clinical, phenotypic, genotypic and treatment features of RBDs.

In 2004, at the 50th Scientific and Standardisation Committee (SSC) meeting organised by the International Society of Thrombosis and Haemostasis held in Venice, an SSC working group on "Rare Bleeding Disorders" was established within the framework of the FVIII/IX subcommittee. The main goals of this group are:

  • To establish and implement an International Database of Rare Bleeding Disorders that will allow for comprehensive analysis of the distribution of patients affected by RBDs in each region of the world, increasing the knowledge of the clinical and therapeutic aspects of these deficiencies


  • To identify available drugs for replacement therapy for each RBD in different regions of the world with the final aim of monitoring and overhauling world-wide drug production, cost and distribution to encourage the development of drugs, particularly for deficiencies with no available therapeutic treatment


  • To meet these goals, the International Database on Rare Bleeding Disorders (RBDD) was developed to efficiently collect and extract existing data on RBDs. The database contains clinical, genetic and therapeutic information, including clinical manifestations, type of bleeding, type of deficiency, complications, treatment, and prenatal diagnosis. In order to identify potential collaborators worldwide, an on-line website was set up to facilitate networking of Haemophilia Centres around the world.

    Preliminary information on distribution of affected patients in four major areas of the world (North, Central and South America, Europe, Asia and Africa), available treatment in these centres and reported problems in treatment availability have been evaluated using a specific questionnaire. The results of this analysis are published on the website. Further information concerning clinical manifestations and management of patients will be collected by a future analysis of individual information obtained for each specific disease. The results could be useful to understanding the gaps in our knowledge of clinical manifestations, treatment practices and patient outcome. This analysis will be important for determining scientific, regulatory and other challenges to be faced in the development of novel products and in the design of further required clinical trials, in order to finally provide evidence-based guidelines for diagnosis and management of patients affected by RBDs.

     


     

     
    Eurordis creates new communication service for rare disease patients
     
    To help rare disease patients share information and break their isolation, Eurordis, in conjunction with French pharmaceutical industry association Leem (Les entreprises du médicament), is launching a new electronic service of mailing lists where users can post messages using Médicalistes, a provider of Internet hosting services for the health sector. Günther’s disease, Prader-Willi syndrome, Ichthyoses, Behçet disease and Sanfilippo disease are amongst the first group of rare diseases targeted. Subscription to the service is free and ensures security, since only subscribers can access posted messages. While the homepage is multilingual, English will be used primarily for the exchange of messages. Those interested in subscribing to the service can contact http://eurordis.medicalistes.org
    For further information:

     
    http://www.eurordis.org/article.php3?id_article=942
     


     

     
    Courses
     
    HUGO mutation detection training course
     
    Held in Leiden, the Netherlands from 31 August - 4 September 2006, this course offers lectures in the morning and practical demonstrations in the afternoon. For further information:
     
    http://mdtc2006.hugo-international.org/home/index.php
     


     

     
    New books
     
    Genetic Disorders of the Indian Subcontinent
     
    Author: Dhavendra Kumar (ed.)
    Publisher: Springer, NY, December 2005

     
    Autoimmune Diseases of the Skin: Pathogenesis, Diagnosis, Management
     
    Author: Michael Hertl (ed.)
    Publisher: Springer-Verlag, 2005

     


     

     
    Press cuttings
     
    A commentary in the Canadian Medical Association Journal entitled Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy examines rare disease medicinal product policies in Canada.
     
    The British Society for Human Genetics has a new publication available on its website, designed particularly for research ethics committees. Research and Rare Genetic Differences - A Question and Answer Booklet, produced by the Genetic Interest Group, the Oxford Genetics Knowledge Park and the Ethox Centre, responds to queries concerning various issues involved in rare disorder genetic research.
     
    The Human Genome Epidemiology Network, or HuGENet, is an international collaboration of individuals and organisations committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease. The first edition of the HuGENet™ Handbook of Systematic Reviews is now available. This document includes information on the different types of HuGE reviews and a complete set of points to consider when conducting such reviews.
     


     

     
    In April
     
    International Meeting on Anomalies of Sex Differentiation
     
    Major aspects of the topic will be discussed during this conference.

    Date: 24-26 April 2006
    Venue: Rome, Italy

     
    http://www.rome2006meeting.com
     
    4th International Symposium on Myelodysplastic Syndromes in Childhood
     
    Focussing on the most recent advances in cellular and molecular biology in myeloid neoplasia.

    Date: 24-26 April 2006
    Venue: Freiburg, Germany

     
    http://www.ewog-mds.org/
     


     

     
    In May
     
    eHealth 2006 High Level Conference and Exhibition
     
    A review and analysis of the role eHealth plays in the progress of health policies in Europe. eHealth solutions for rare diseases will be presented and discussed.

    Date: 10-12 May 2006
    Venue: Malaga, Spain

     
    http://www.ehealthconference2006.org/
     
    Update in Neuromuscular Disorders
     
    Examining clinical cases, assessment strategies and treatments.

    Date: 17–19 May 2006
    Venue: London

     
    https://www.prossl.com/symposiassl/eventprog.asp?year=06&evcd=05
     
    HUGO’s 11th Human Genome Meeting
     
    Designed to update and increase knowledge of human genome research.

    Date: 31 May–03 June 2006
    Venue: Helsinki, Finland

     
    http://hgm2006.hugo-international.org/
     


     

     
    In June
     
    10th International Congress of Child Neurology
     
    Presenting novel and contemporary aspects of child neurology, including a global perspective on the significant burden of neurological disease in developing countries.

    Date: 11-16 June 2006
    Venue: Montreal, Canada

     
    http://www.icnc2006.com/
     
    4th International Cystinosis Conference
     
    Families and professionals meet to discuss the challenges of everyday life for people with cystinosis as well as new scientific developments in the field.

    Date: 30 June-2 July 2006
    Venue: Noordwijkerhout, The Netherlands

     
    http://www.cystinosisfoundation.org/Netherlands/PROGRAMME_AMSTERDAM_2006.pdf
     


     

     
    In July
     
    10th International Fragile X Conference
     
    Hosted by the Fragile X Association of Georgia.

    Date: 13-23 July 2006
    Venue: Atlanta, Georgia, USA

     
    http://nfxf.org/html/nfxf_international_fragile_x_c.htm
     


     

     
    In August
     
    11th International Congress of Human Genetics
     
    Held every five years, the 11th International Congress of Human Genetics is organised on behalf of the International Federation of Human Genetics Societies, and will be hosted by the Human Genetics Society of Australasia.

    Date: 6-10 August 2006
    Venue: Brisbane, Australia

     
    http://www.ichg2006.com/
     
    2nd International Symposium on Disorders of Sex Development
     
    "From Gene to Gender". Including a lecture on the possibilities of research efforts for rare diseases within the proposed EU framework funding programmes.

    Date: 31 August-2 September 2006
    Venue: Lübeck, Germany

     
    http://www.netzwerk-is.uk-sh.de/is/index.php?id=156
     


     

     
    In September
     
    2nd Eastern European Conference on Rare Diseases and Orphan Drugs
     
    Fostering research on rare diseases in eastern European countries.

    Date: 8-9 September 2006
    Venue: Plovdiv, Bulgaria

     
    http://www.conf2006.raredis.org/
     
    12th International Conference on Behçet’s Disease
     
    Gathering together colleagues from specialities that range from basic research in immunology and genetics, to clinicians in rheumatology, ophthalmology, dermatology and internal medicine, and other fields.

    Date: 20-23 September 2006
    Venue: Lisbon, Portugal

     
    http://www.icbdlisbon2006.org/index.htm
     


     

     
    In October
     
    The 14th World Congress of the International Society of Psychiatric Genetics
     
    This congress will underline the relationship between psychiatric genetics and neurosciences, with the intent of attracting participation by both clinicians and basic researchers.

    Date: 28 October–1 November 2006
    Venue: Cagliari, Sardinia, Italy

     
    http://www.wcpg2006.it/credits.html
     


     
    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: Dr Ségolène Aymé
    Editor: Kathy Beuzard-Edwards
    Contact Us
    Editorial Board: Ségolène Aymé, Aurélie Bedin, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Jordi Llinares-Garcia, Jérôme Parisse-Brassens, Helmut Popper, Elena Prats, John Ryan, 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