16 March 2006 print
Task Force Update
Spotlight on...
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National Policy News
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Ethical, Legal & Social
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Task Force Update
Working groups
The Public health indicators working group meeting minutes available
The Working Group on Public Health Indicators is composed of members of the Rare Diseases Task Force and invited experts. The group has been organised in order to ensure that public health indicators appropriately encompass rare diseases. The group's meeting of 30 January 2006 sought to define a work plan for the coming two to three years, highlighting three main issues:

1) the applicability of the concept of health indicators to the field of rare diseases
2) The feasibility of death certificates as a source of information
3) The definition of rare diseases for surveillance purposes

The minutes of the meeting have been posted on the Rare Diseases Task Force website (click on "Working Groups" and scroll down to "Public health indicators").


Spotlight on...
Small sample significance management in clinical trials: The view of Ariel Beresniak, Data Mining International
Based in Geneva, Switzerland, Data Mining International is a leader in advanced analyses for databases, as well as small sample significance management, multicriteria analysis and clinical data rescue. Company CEO Ariel Beresniak is an MD specialising in Public Health. OrphaNews Europe asked Dr. Beresniak to discuss the particulars of managing data in studies for rare disease medicinal products.

OrphaNews Europe: As CEO of Data Mining International, a leading company specialising in statistical and mathematical analyses of clinical databases, what is your opinion on the need for specific clinical analyses for orphan diseases?

AB: We are observing today some important changes in the clinical development environment. Relying on well-established policies and processes dating from the 1960s, clinical assessment is based on theoretical foundations that do not meet the needs of the challenges facing modern science today. The development of the biotech sector is one response to the changing expectations of patients, doctors and public authorities.These expectations can be summarised in 3 points :

- better management of chronic diseases
- development of efficacious products for rare diseases
- quick availability of innovative products

It is not enough that an innovative product be potentially safe and efficacious, it is necessary to be able to demonstrate this. The principle of clinical assessment demands planning a clinical study as large as the efficacy differences are expected to be small.

Current calculations of the number of subjects needed for one trial are often not compatible with acceptable budget and time duration constraints, and are also quite impossible in terms of patient recruitment feasibility. Orphan drugs are often developed by the biotech sector, which specialises in niche markets. In addition, most clinical trials cannot reach the significance threshold (p value < 5%, meaning that we accept a 5% risk of error), jeopardizing the potential access to market for tested products.

Read the full interview with Ariel Beresniak

EU Policy News
New EC publication available
The European Commission has released a new publication, entitled the Catalogue of projects funded in the field of rare diseases research in FP5 (1998-2002). The publication can be downloaded as a pdf document.
EMEA releases its 2006 Work Programme
The European Medicines Agency has published its Work Programme for 2006. For orphan medicinal products, the report states that the EMEA will propose "fee reductions which will provide maximum possible incentives during the development and marketing-authorisation phases."

Amongst the trends cited, the EMEA expects activities to stabilise at the 2005 level, and cites the outcome of the EC report on orphan medicinal products as being decisive for long-term trends and the possible evolution of orphan policy at the Community level, which could impact the EMEA and its practices.

A new chairperson and vice chairperson are due to be elected to the Committee on Orphan Medicinal Products at the new term beginning in April 2006.

Final guidelines for similar biological medicines published
The EMEA has published final guidelines for quality, clinical and non-clinical issues of similar biological medicinal products, intended for industry developing the type of application necessary for marketing authorisation of these products.
CHMP issues negative opinion for first transgenic drug
Atryn, an anticoagulant containing anti-thrombin manufactured via transgenic technology, has been blocked from proceeding to market by the EMEA. The drug, produced by US company GTC Therapeutics, was developed to treat the estimated one in 5 000 patients who lack the ability to produce anti-thrombin naturally. It is intended to compensate anti-clotting deficiencies and is also indicated for specific high-risk situations, such as surgery. The decision to block marketing was based on two points: the clinical sample was considered too small (14 subjects were used, of whom only five were surgical cases), and an additional filtration step not taken in the tested product is planned for the drug proposed for market. The EMEA also considered that not enough studies seeking the development of antibodies had been conducted. Atryn is the first of many transgenic drugs awaiting market clearance.
European Parliament
EU directive on services is murky on healthcare
The recent European parliament vote on the liberalisation of services leaves the private healthcare industry in a state of confusion. An amendment to the vote excluded healthcare from the liberalisation measure. However, as was reported in the 25 February issue of the British Medical Journal, the European parliament went on to approve some contradictory measures. An amendment approved by the parliament clarified that public health services and access to public health care providers would be unaffected by the measure. But conservative members of parliament (MEPs) added in an explanation to the amendment that privately-funded and private healthcare organisations should be included in the legislation, permitting companies to provide nursing homes, clinics and other establishments beyond their own countries’ borders. A subsequent vote again narrowed the definition of concerns implicated in the liberalisation measure, in the form of a stipulation excluding public and private healthcare. Certain stakeholders, including the Standing Committee of European Doctors and the European Public Health Alliance, desire to see healthcare completely excluded from the measure, arguing that healthcare should have its own special legislation. However, consumer organisations across Europe would like to see public and private health care included in the liberalisation measure, believing it would allow patients a greater selection of health services. The EC must next decide which amendments of the liberalisation proposal to accept. Separate legislation concerning patients crossing national borders for health care is also under consideration, an important issue for rare disease patients seeking diagnosis and treatment.
European Institute of Technology takes shape
Draft plans for the proposed European Institute of Technology (EIT), revealed on 22 February by Commission President José Manuel Barroso, are structured on a two-tier system of a central governing board and a network of “seconded knowledge communities” from a pool of the highest-quality European universities, research centres and companies, according to a news report in CORDIS, the Community Research and Development Information Service. EIT is based on a “knowledge triangle” of education, research and innovation, with particular emphasis on industry. The “knowledge community” model is designed to overcome concerns that a fixed network would not offer sufficient flexibility or openness. It was also pointed out that the two-tier system would allow cherry-picking the best individual departments or teams from participating universities. As to financing, substantial EU and Member State funding are believed necessary, at least initially. Mr. Barroso distinguished the role of the EIT as separate and complementary to the European Commission Framework Programmes and the European Research Council, and it was emphasised that the EIT should not divert resources from these programs. Indeed, detractors of the project question whether now is the time to launch such an effort, stating that FP7 and the ERC should take the priority.

National & International Policy Developments
Policy developments in EU member states
UK report backs EC paediatric drug testing proposal
The UK House of Lords European Union Committee has issued a report in support of European Commission proposals concerning the testing of medicines administered to paediatric patients. With some 50% of all medicines given to children (and as much as 90% for newborns) being untested and unauthorised for administration to this population, the European Commission wants to create a framework of regulations for testing and approving medicines for children while encouraging the development of medicines specifically for this population. The House of Lords report supports these actions, while urging caution in implementing regulations which must take into account various ethical considerations and study carefully the incentive mechanisms proposed. For orphan medicinal products, the EC proposal includes a clause that would add an additional two years to the ten year market exclusivity which these products currently benefit from under existing EMEA authorisation procedures, making for 12 years total market exclusivity. The proposals are expected to come into action in late 2006.
UK considers broadening rules surrounding egg donations for research
The United Kingdom’s Human Fertilisation and Embryology Authority (HFEA) is considering allowing British women to donate their eggs uniquely for therapeutic cloning research. Under the present rules, only women undergoing in vitro fertilisation or other gynaecological treatments are permitted to donate eggs for research purposes. A current shortage of such eggs, restricting embryonic stem cell research, has lead the HFEA to consider changing its guidelines. At a 15 February meeting, the HFEA requested further investigation into the aspects of protection and finance, and stated that the issue would be explored further at the group’s next public meeting in May. Opponents to the proposed change in guidelines cite potential health complications that can occur during egg donation procedure.
Estonian gene bank project receives funds to continue
The Estonian Genome Project, established in 2001, seeks to collect DNA samples, clinical data and other health information from the majority of its 1.4 million citizens. Yet after only 10,000 blood donors had joined, the project was flagging when venture-capital funds ran out. Now, the Estonian government has decided to help the ambitious project keep going with an €8 million contribution over the next four years - enough to increase the number of donors to 100 000; a size that would enable the gene bank to become a serious contender in the field of population genetics.
Awareness campaign for rare diseases launches in Germany
The German Congenital Immune Deficiency Self-Help group (Deutsche Selbsthilfe Angeborene Immundefekte or DSAI) has launched a campaign designed to inform politicians and the public of the issues surrounding rare diseases, particularly primary immune deficiency. The DSAI is a member of the Alliance of Chronic Rare Diseases (Allianz Chronischer Seltener Erkrankungen), a network of patient organisations. An event for the campaign, which is entitled Rare diseases - not all that rare. An early diagnosis saves lives and reduces treatment costs, will take place in early April, and will include patients, medical professionals, and both German and European-level political representatives. For more information (in German):

Other international news
NIH to launch US program geared to fostering independence in research
The US National Institutes of Health (NIH) has unveiled its NIH Pathway to Independence Award program, bestowing both mentored and independent research support upon postdoctoral scientists during a five-year period. Designed to extend the frontiers of medical research, the program will distribute between 150 and 200 awards annually beginning this autumn, for a total of $USD 390 million over the first five years. The program is part of a larger initiative to support new scientists as they make the transition to independent research. The early independence of new investigators is considered an important key to creativity and innovation. Non-US citizens desiring to work on a US research project are eligible for the program, although the NIS will not assist with visa related matters.
New automated computer program speeds gene research
GeneDesign, developed by researchers at Johns Hopkins University School of Medicine in the US, accelerates the design of artificial genes used to study gene function and to genetically engineer cells. The program also automatically diagnoses flaws in the base sequences composing the gene - considered significant as slight alterations in base pair choices can impact largely how the gene functions. Billed as a “publicly-accessible, web-based resource”, GeneDesign can be found at the following site: http://slam.bs.jhmi.edu/gd. An article describing the tool has been published online by Genome Research journal.
US visa rules hampering international scientific collaboration
Both American and foreign science leaders are expressing concern over current visa policies in the US and their impact on international collaboration. Under-participation in US-based scientific conferences and international meetings has been cited, along with a drop in the number of foreign students applying to graduate programs in the US. The issue heated up recently when the International Council for Science, a leading scientific body that has coordinated major international research programs and promoted free exchange amongst scientists since 1931, criticised US visa policies following the denial of entry into the country of a well-known leading Indian organic chemist scheduled to attend a conference there.
Singapore's new programme to detect rare genetic disorders in newborns
A new screening programme designed to detect some 25 – 30 rare metabolic disorders in newborns is being put into effect in Singapore. In Singapore, three to four infants – or one in every 3 000 to 4 000 - are born each year with a metabolic disorder.

Research in Action
EU project focus
The European Skeletal Dysplasia Network: a pan-European research and diagnostic network for rare bone diseases
The bone dysplasias are a diverse and complex group of rare genetic disorders affecting the development of the skeleton. Due to the rarity of these conditions, which also exhibit extensive clinical variability and genetic heterogeneity, determining an accurate diagnosis can be an extremely difficult, time-consuming and expensive undertaking for the non-expert.

In order to address these diagnostic problems within the wider European Community, the European Skeletal Dysplasia Network (ESDN) was established as a referral and communication network to provide help and diagnostic expertise to the medical community. In this context ESDN employs state-of-the-art DNA diagnostic and research technologies to provide diagnostic services and research collaborations respectively.

ESDN is composed of eight partners from six European countries and is coordinated by Dr Mike Briggs, a bone biologist at the University of Manchester. The project was initially established in January 2002 with funding from the European Commission’s Fifth Framework Programme (contract number QLG1-CT-2001-02188) and financial support from the Swiss Government (contract number OFES 01.0258). The primary goal of the project was to provide an integrated research and diagnostic network for skeletal dysplasias, which will ultimately provide a better understanding of the cellular, molecular and genetic factors that cause bone dysplasias, and to develop effective approaches for their diagnosis.

Using a unique web-based electronic referral system, ESDN partners in the United Kingdom, Belgium, Germany, Finland, Switzerland and France provide medical practitioners from anywhere in the world with specialist clinical advice and expert molecular diagnosis services for bone dysplasias.

Read more about ESDN

Rare Autoimmune diseases, such as scleroderma, systemic lupus erythematosus, antiphospholipid syndrome, systemic vasculitis and autoimmune lymphoproliferative syndrome, are severe, chronic conditions causing substantial morbidity and sometimes leading to mortality in affected persons, especially children and the elderly.

AUTOROME, a three-year European Commission FP6 project (contract LSHM-CT-2004-005264) receiving € 2.7 million in funding, is headquartered in Rostock, Germany under the leadership of Professor Hans-Jürgen Thiesen, director of the university’s Institute for Immunology. AUTOROME has a network of 12 research groups from centres of excellence in five European countries and Israel.

“From immune responses in rare autoimmune diseases to novel therapeutic intervention strategies - a personalized medicine approach” states the AUTOROME website, reflecting the aim of the project to research new diagnostic methods and achieve an improved understanding of autoimmune processes in patients.

Four work packages have been defined to meet these goals: I. Antigen / Autoantibody Mapping, II. Idiotype-specific Peptides, III. Dysfunction of the Immune System, and IV. Basic Developmental Mechanisms in the Immune System.

Read more about AUTOROME

New diseases & syndromes
New diseases and syndromes published on PubMed
A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution
Int J Neurosci ; 361-369 ; March 2006
Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation
Pediatr Res ; 293-298 ; February 2006
New genes
New rare disease genes published on PubMed
Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness
Am J Hum Genet ; 137-143 ; January 2006
Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss
Am J Hum Genet ; 144-152 ; January 2006
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Am J Hum Genet ; 345-349 ; February 2006
Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency
Am J Hum Genet ; 339-344 ; February 2006
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
Nat Genet ; 197-202 ; February 2006
A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)
Am J Hum Genet ; 160-166 ; January 2006
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
Am J Hum Genet ; 1021-1033 ; December 2005
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Am J Hum Genet ; 179-192 ; February 2006
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Hum Mol Genet ; 767-776 ; 1 March 2006
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome
Am J Hum Genet ; 38-51 ; January 2006
New clinical research
New clinical trials and research on Orphanet
A multicentre, randomised placebo controlled trial of Ethyl-EPA (Ethyl-Isosapent, Miraxion) in patients with Huntington's disease

A national multi-centre trial

Effect of Cannabis based medicine extract (Sativex) on brain function as assessed by fMRI and neurophysiologic evaluation in patients with multiple sclerosis: a double blind, randomised, placebo-controlled, crossover study

A national single-centre trial

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

New clinical research published on PubMed
Human mesenchymal stem cells ectopically expressing full-length dystrophin can complement Duchenne muscular dystrophy myotubes by cell fusion
Hum Mol Genet ; 213-221 ; 15 January 2006
Multi-centre pilot study of 2-chlorodeoxyadenosine and cytosine arabinoside combined chemotherapy in refractory Langerhans cell histiocytosis with haematological dysfunction
European Journal of Cancer ; 2682-2689 ; November 2005
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
Neurology ; 324-330 ; 14 February 2006
Pentoxifylline in ALS: a double-blind, randomized, multicenter, placebo-controlled trial
Neurology ; 88-92 ; 10 January 2006
Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies
Human Mutation ; 232-235 ; March 2006
Survival from rare cancer in adults: a population-based study
Lancet Oncology ; 132-140 ; February 2006
Nonmyeloablative hematopoietic stem cell transplantation for systemic lupus erythematosus
JAMA ; 527-535 ; 1 February 2006
New therapeutic & diagnostic approaches
New therapeutic & diagnostic approaches published on PubMed
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
Nat Med ; 175-177 ; February 2006
A genetic strategy to treat sickle cell anemia by coregulating globin transgene expression and RNA interference
Nat Biotechnol ; 89-94 ; January 2006
Gene therapy progress and prospects: magnetic nanoparticle-based gene delivery
Gene Therapy ; 283-287 ; February 2006
Primary prevention of sudden death in patients with lamin A/C gene mutations
N Engl J Med ; 209-210 ; 12 January 2006
Technical standards and guidelines: molecular genetic testing for ultra-rare disorders
Genet Med ; 571-583 ; October 2005
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
Hum Mol Genet ; 167-187 ; 15 January 2006
Bone marrow transplantation for severe combined immune deficiency
JAMA ; 508-518 ; 1 February 2006
Gene expression profiles distinguish idiopathic pulmonary fibrosis from hypersensitivity pneumonitis
Am J Resp Crit Care Med ; 188-198 ; 15 January 2006
Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme
Am J Med Genet ; 199-203 ; 15 December 2005
Tetrabenazine as antichorea therapy in Huntington disease: a randomized controlled trial
Neurology ; 366-372 ; 14 February 2006
Service provision for adults with long-term disability: A review of services for adults with chronic neuromuscular conditions in the United Kingdom
Neuromuscul Disord ; 107-112 ; February 2006
A Protein Farnesyltransferase Inhibitor Ameliorates Disease in a Mouse Model of Progeria
Science ; Epub ahead of print ; 16 February 2006

Funding opportunities
EU publishes FP6 call for proposals promoting third country participation
To promote the participation of targeted third countries in projects already signed or under negotiation, the European Commission has launched an FP6 call for proposals with a total indicative of €20 million, of which €3 million for Priority - 1 - Life sciences, genomics and biotechnology for health. Developing African, Caribbean, Pacific, Asian, and Latin American countries, Mediterranean partner countries, Western Balkan countries, as well as Russia and the new independent states are all targeted in the call. For contracts already signed, the remaining duration of the existing contract must be at least 18 months at the closing date. The call for proposals closing date is 16 May. More information on this Priority 1-related INCO call, including the areas and calls open for submission, can be found on

Orphan Drugs
EMEA announces application deadlines for orphan drug designations
The European Medicines Agency has published the 2006 and 2007 deadlines for orphan medicinal product designation applications.
New designations & authorisations in Europe
COMP orphan drug designations in March 2006
At its meeting on 7-8 March, 2006, the EMEA's Committee for Orphan Medicinal Products (COMP) adopted 9 positive opinions on orphan designation for medicinal products for the following indications:

  • 4-[131I] iodo-L-phenylalanine, from Dr Andreas Kluge, for treatment of glioma
  • Adeno associated viral vector containing the human calpain 3 gene for treatment of calpainopathy
  • Ciclosporin for treatment of vernal keratoconjunctivitis
  • Glutathione for treatment of cystic fibrosis
  • Human heterologous liver cells (for infusion) for treatment of acute liver failure
  • Sorafenib tosylate for treatment of hepatocellular carcinoma
  • Temsirolimus for treatment of renal cell carcinoma
  • Tobramycin (liposomal)for treatment of Pseudomonas aeruginosa lung infection in cystic fibrosis
  • Parathyroid hormone (1-34) transglutaminase fusion protein fibrin matrix complex for treatment of solitary bone cysts

  • EMEA COMP opinions in March 2006

    The Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion on initial marketing authorisation application for Evoltra (clofarabine) manufactured by Bioenvision Ltd for the treatment of acute lymphoblastic leukaemia in paediatric patients. Evoltra is the twenty-fifth orphan-designated medicinal product to receive a positive CHMP opinion.

    The CHMP has adopted a positive opinion for a similar biological medicinal product. Valtropin (somatropin), produced by BioPartners, is a growth hormone produced by recombinant DNA technology similar to Humatrope, already authorised in the EU. Somatropin is indicated for growth disturbance and growth hormone deficiency.

    In January, the CHMP adopted its first positive opinion for a similar medicinal product, recommending to grant marketing authorisation for Omnitrope (somatropin) intended for growth disturbance and growth hormone deficiency, including Turner syndrome, chronic renal sufficiency and Prader-Willi syndrome in children. Omnitrope, produced by Sandoz GmbH, is similar to Genotropin, already authorised in the EU.

    Also in January, the CHMP adopted a positive opinion recommending to grant marketing authorisation for Myozyme (recombinant human acid alpha-glucosidase) for the treatment of infantile-onset Pompe disease. Efficacy of Myozyme (produced by Genzyme Corp.) in late-onset Pompe disease has not been established to date.

    Details of all orphan designations and authorisations granted to date by the European Commission are entered in the Community Register of Orphan Medicinal Products

    First treatment for mucopolysaccharidosis VI available in Europe
    Having received marketing authorisation for treatment of mucopolysaccharidosis VI (Maroteux Lamy syndrome) from the EMEA in late January, Naglazyme (galsulfase), manufactured by BioMarin Pharmacuetical, is now commercially available in the UK and Germany. Reimbursement issues are being finalised prior to distribution in other European countries.
    New designations & authorisations in USA
    The University of Rochester in New York, along with the Muscular Dystrophy Association (MDA), is initiating a Phase 2 clinical trial of iPLEX (mecasermin rinfabate injection of rDNA origin produced by Insmed Inc.) for the treatment of myotonic muscular dystrophy. The trial, funded by grants from the National Institutes of Health and the MDA, will test the safety and efficacy of iPLEX in two series involving 15 patients each.

    The US Food and Drug Administration in December approved iPLEX for the treatment of growth failure in children with severe primary IGF-1 deficiency or with growth hormone gene deletion who have developed neutralising antibodies.

    A study published in the March 2006 issue of the British Journal of Clinical Pharmacology finds that orphan drug development in Europe is progressing too slowly. The article reports a 7% approval rate for orphan medicinal products, versus almost 80% for other medicinal products. The authors cite methodological limitations such as inappropriate clinical design as being responsible for the discrepancy, noting the lack of eligible methods for evaluating products on small numbers of patients.

    Ethical, Legal & Social Issues
    Stem cell research hindered in California – but edging forward in other US states
    Two lawsuits deliberately launched by conservative “pro-life” groups have managed to temporarily put the brakes on the California Institute of Regenerative Medicine (CIRM) - the state’s newly created stem cell research programme. Charging it unconstitutional to have CIRM board members – who are not elected officials – distribute state funds (California law dictates that the spending of taxpayers' money must be “under state control”), the lawsuits are expected to have a temporary effect on the progress of the initiative, but eventually be dismissed. Yet because of the action, to date none of the USD $3 billion in research grants has been distributed. In other states, bills have been approved permitting modified forms of stem cell research to go forward. Maryland’s Appropriations Committee approved a measure by 19 to seven votes authorising state funding of USD $25 million annually for five years for embryonic and adult stem cell research. The proposal next goes to the state’s house of delegates for debate. Meanwhile, Delaware has voted overwhelmingly to ban human cloning and the sale of human embryos while making no specific mention of embryonic stem cell research. The compromise version of the measure removes language regulating human embryonic stem cell research. Thus human embryonic cloning and research remains legal simply because the state is silent on the issue, which consequently remains largely unregulated. A senate committee in Mississippi has defeated a ban on the use of cloning for research purposes, including human reproductive cloning, that had passed previously in the state’s house of representatives by 104 to four. In contrast, the state of Georgia is debating a bill that would criminalise embryonic stem cell researchers. A more moderate bill is simultaneously being debated that would simply forbid the creation of embryos for research purposes, leading to a call to put both measures on hold for a one-year period while the issue is studied in more detail. Finally, Missouri has rejected a claim that the state’s ballot proposal protecting stem cell research and treatment is “misleading”. Opponents to the measure consider somatic cell nuclear transfer to be a form of cloning and thus wanted language emphasising a ban on cloning in the bill to be altered accordingly.
    The Czech Republic votes on embryonic research
    The Czech Republic's Chamber of Deputies has adopted a law authorising research on human embryos while outlawing cloning. Reproductive cloning will be punishable by eight years in prison and a fine equivalent to up to hundreds of thousands of euros. Embryonic research must be conducted uniquely in specialised centres and with the consent of parents. The law also mandates the free donation of embryos. The law must now be ratified by the Senate. Human embryos abandoned to research, issuing from in vitro fecundation and not re-implanted in the mother’s uterus, aged a maximum of seven days, are declared “supernumerary”. The measure has made waves in the political sphere. Certain deputies, notably the Christian democrats, are boycotting the law. Others, however, consider the embryos equivalent to any other organ donation.

    News from the Patients Associations
    Eurordis update
    DIA Euromeeting a success
    The 18th Drug Information Association (DIA) Euromeeting held in early March brought together those interested in European drug development and regulatory affairs. This year, for the first time, the Fellowship Programme offered registration fee waivers to forty patient organisation representatives, and travel and accommodation fee waivers for twenty others. The event allowed patient representatives to acquire knowledge, develop a deeper understanding of industry and regulatory strategies, and do some networking. Participants are already looking forward to next year's Euromeeting.
    Rare disease policies in Taiwan
    The Taiwan Foundation for Rare Disorders, founded in 1999 by the mother of a rare disease patient, has accomplished an astonishing number of public and government conscious-raising efforts. Amongst the results of the group’s campaign are the passage of the “Rare Disease and Orphan Drug Act” in 2000 and the subsequent ‘Physically and Mentally Disabled Protection Act’ in 2001 and ‘Catastrophic Illness’ classification of rare diseases within the country’s National Health Insurance in 2003. After the creation of a committee to review rare diseases and orphan drugs, some 77 orphan drugs have gone on to gain approval, of which 56 are reimbursed by Taiwan’s national health insurance scheme.

    Read more in the March Eurordis newsletter.


    Courses & Educational Initiatives
    Inborn errors in the neonatal period: a practical course
    This course on inborn errors will be run by experienced metabolic paediatricians and is intended for neonatalists. It is being held at the University of Leeds (UK) from 17-19 May. For further information:

    Mitochondrial medicine
    Located at the Nijmegen Medical Centre, in the Netherlands, from 28-30 June 2006, this course is designed for clinicians from all medical disciplines, and includes segments on the epidemiology of mitochondrial disease, molecular genetics and diagnostics, clinical presentations of OXPHOS-system disorders in children, how to find new disease genes and what to do with them, and treatment strategies combating OXPHOS-system diseases. For further information:


    Press & Publications
    New books
    Tick-Borne Diseases of Humans
    Authors: Jesse L. Goodman, David T. Dennis and Daniel E. Sonenshine
    Publisher: American Society for Microbiology Press, Washington, DC, May 2005

    Guidelines for Human Embryonic Stem Cell Research
    Authors: Richard O. Hynes, Jonathan D. Moreno and Elizabeth Price Foley
    Publisher: National Academies Press, Washington DC, August 2005

    Pediatric Oncology: A Comprehensive Guide
    Authors: Paul Imbach, Thomas Kühne and Robert Areci
    Publisher: Springer, New York, October 2005

    Neurodegenerative diseases: neurobiology, pathogenesis and therapeutics
    Authors: M. Flint Beal, Anthony E. Lang, and Albert C. Ludolph
    Publisher: Cambridge University Press, June 2005

    Inflammatory disorders of the nervous system: pathogenesis, immunology, and clinical management
    Authors: Alireza Minagar and J. Steven Alexander
    Publisher: Humana Press Inc., June 2005

    Press cuttings
    The editor of the British Journal of Clinical Pharmacology presents his assessment of the orphan drug situation in Europe following publication in the same issue of a study entitled Orphan drug development is progressing too slowly.
    The UK Human Genetics Committee has published a major document, entitled Making babies: reproductive decisions and genetic technologies which reviews current pre- and neo-natal testing procedures and aspects of assisted reproduction policy.
    A commentary by the Human Genetics Committee is available on the report.

    A recently published study in Sweden shows that intensive family competence intervention programmes help reduce stress in parents of children with rare diseases.

    What's on where?
    In April
    1st Pan Arab Human Genetics Conference
    Addressing the genetic disorders and congenital abnormalities challenging health care systems in the Arab world.

    Date: 4-6 April 2006
    Venue: Dubai, United Arab Emirates

    Evaluation of drugs in rare diseases
    Eudipharm and EMEA seminar designed to examine the obstacles facing the rare disease medicines evaluation process.

    Date: 6-7 April, 2006
    Venue: London, England

    2nd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism
    With sessions on mechanisms, telomeres, phenotypes and techniques.

    Date: 7-8 April
    Venue: Troina, Italy

    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

    4th International Symposium on MDS in Childhood
    Focussing on the most recent advances in cellular and molecular biology in myeloid neoplasia.

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

    In May
    7th Congress of the International Down’s Syndrome Screening Group
    Satellite of the European Human Genetics Congress taking place 6-9 May (http://www.eshg.org/eshg2006/).

    Date: 5-6 May 2006
    Venue: Amsterdam, Netherlands

    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

    In June
    International Conference on Genomics and Public Health
    Addressing key questions relating to genomics and public health, including newborn screening programmes and the role of international stakeholders. Co-organizers include the University of Montreal, Centers for Disease Control and Prevention, Public Health Genetics Unit, and the Public Health Agency of Canada.

    Date: 4-7 June 2006
    Venue: Montreal, Canada

    10th International Congress of Child Neurology
    Presenting novel and contemporary aspects of 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

    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

    In July
    5th international 22q11.2 microdeletion syndrome conference
    Targeted to healthcare professionals and researchers including physicians, scientists, genetic counselors, psychologists, speech pathologists, audiologists, educators, nurses, and therapists.

    Date: 10 -11 July 2006
    Venue: Marseilles, France

    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

    In September
    International Workshop on Hereditary and Sporadic Endocrine Tumors
    Addressing issues concerning multiple endocrine neoplasia type 1 and 2, paraganglioma, phaechromocytoma, Von Hippel Lindau disease, and Carney disease.

    Date: 7-10 September 2006
    Venue: Marseilles, France

    In October
    International Conference on Proteomics
    Bridging the gap between gene expression and biological function.

    Date: 11–14 October 2006
    Venue: Luxembourg

    7th EPPOSI Workshop
    The programme and all other related information for the next EPPOSI workshop will be available soon.

    Date: 26-27 October 2006
    Venue: Madrid, Spain

    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


    Orphanews Europe, the newsletter of the Rare Diseases Task Force
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    Editor: Louise Taylor
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