Editorial
This year’s theme puts the emphasis on research
Held on the last day of February, Rare Disease Day debuted in 2008 - a leap year – in a handful of countries. Two short years later, the enthusiasm has swept the planet and this year, even more countries are expected to join the effort to raise awareness for rare diseases. Hong Kong, Serbia and Turkey are amongst the newcomers expressing interest this year. Organised by the European Organisation for Rare Diseases (Eurordis), the 2010 International Rare Disease Day has taken the theme “Bridging Patients and Researchers” with the slogan “Patients and Researchers – Partners for Life”. Specifically, this year’s Rare Disease Day seeks to promote collaboration between patients and researchers and influence public policy and the European research agenda. Eurordis is organising several activities to promote and encourage rare disease research – and emphasise the vital role patients can play - including a workshop in Brussels that invites policy-makers, researchers, patient organisations, and members of the biopharmaceutical industry to join together to create a European research agenda in which patients play an active role. Other activities being hosted by Eurordis include the creation of a Research Hall of Fame, to which patient organisations are invited to nominate scientists who have pushed forward research on rare diseases, as well as the rare disease video and photograph competition that yielded such poignant results the last two years. Meanwhile, rare disease organisations in various countries are preparing a host of functions designed to raise awareness. In Denmark, a series of game nights are planned using the Play Decide games developed by EURORDIS and partners that allow participants to discuss topics relating to rare diseases. Patient organisations all over are encouraged to organise these games, which are available in 21 languages. Denmark is also hosting a conference on genetics. In the UK, the organisation Rare Disease UK will host three parliamentary receptions in Scotland, Wales and Northern Ireland. In the USA, the National Organization for Rare Disorders (NORD) has created a Rare Disease Day website that is tracking the multitude of activities taking place across the country. One particular project NORD is overseeing is the creation of a database of physicians (both clinicians and researchers) and medical centers with expertise on specific rare diseases. In France, informational leaflets are being prepared by the country’s umbrella group for rare diseases. OrphaNews Europe is also preparing to do its part. Special issues of the English- and French-language newsletters will be released in acknowledgement of Rare Disease Day.
National & International Policy Developments
Other European news
First meeting of the European Dysmorphology Club to take place in March
The very first meeting of the European Dysmorphology Club is scheduled to take place in Amsterdam on 10 March. Modelled after a similar entity that has been operating in the UK for several years, the European Dysmorphology Club will allow experts to present rare and/or unknown clinical cases of dysmorphology to colleagues, which will then be discussed in order to further knowledge. Interest has thus far been expressed by experts from a variety of European countries, including Austria, Belgium, Finland, France, Germany, Greece, Ireland, Italy, Netherlands, Norway, Poland, Portugal, Slovenia, Spain, Sweden, Swiss, Turkey and the UK. For further details and/or to participate
European Society of Human Genetics hosts school essay competition to commemorate DNA Day
On 25 April 1953, James Watson and Francis Crick published their groundbreaking work describing the structure of DNA. Accordingly, 25 April is celebrated internationally as DNA Day – acknowledging the rich field of genetics and all its promises. To honour the unraveling of the double helix, the European Society of Human Genetics (ESHG) is sponsoring for the third year a DNA Day Essay Contest throughout European high schools. Partnering with the American Society of Human Genetics in this initiative, the two societies will pose the same essay questions, thus capturing the knowledge and perspectives of genetics among students on both continents. It is hoped that the essay contest will be used as a learning tool and a means to promote knowledge of genetics. Open to students between 14 and 18 years of age, essays can be submitted electronically until 25 April. The winning essays will be featured at the ESHG annual meeting in June 2010 and the top three winners will receive a monetary prize – along with their sponsoring teachers. Visit the ESGH website for further details.
France and Spain telethons drum up money for rare diseases despite dour economy
In December, France held its 23rd Telethon, an annual event that amasses donations for myopathies and other rare disorders via a 30-hour televised marathon broadcast nationally. The programme features documentaries, interviews with experts, patients, families, and caregivers, as well as appearances by celebrities and televised coverage of the panoply of live events taking place across the country - including parades, concerts, games, conferences, tombolas and more. Monies received go toward funding research. Despite the flailing global economy, this year’s Telethon received over €90 million in pledged donations.
Meanwhile, to the south, the Catalan region of Spain held its 18th annual Telethon on 13 December. This year’s La Marató de TV3 had as its slogan “I want to know what I’m fighting against" and has thus far raised over €6 million in donations. Proceeds from the 15-hour televised event that attracts over 3 million viewers each year will fund biomedical rare disease research projects. In February, the Fundació la Maratò de TV3 will open a public call for submission for these projects. Dr. Francesc Palau, scientific director of CIBERER (Biomedical Network Research Centre on Rare Diseases), Dra. Antònia Ribes, from the Hospital Clínic Barcelona and Dr. Jaume Campistol, from the Hospital de Sant Joan de Déu, were amongst the specialists who participated in this year’s programme. Volunteers also played a crucial role in ensuring the success of the event. The deadline for donating to the Fundació la Marató de TV3 is open until 31 January.
Ethical, Legal & Social Issues
UK scientists decry effect of over-interpreted EU clinical trial regulations on academic research
In an open access article published in PLoS Medicine, researchers from Scotland depict how the “ever-increasing bureaucracy” attached to academic research has imposed a significant obstacle. The situation is critical to research for rare diseases, often shunned by the biopharmaceutical industry due to the inherent lack of profits treatments for low-prevalence diseases afford. Specifically, the authors cite the incorporation of the European Directive 2001/20/EC on clinical trials into UK Good Clinical Practice (GCP) law. Whether or not the elements of this directive are intended for academic clinical trials is not clear, but the number of noncommercial trials has decreased since the UK implemented the new GCP regulations. A survey of eight cancer clinical trial centres reveals that the cost of noncommercial trials has doubled and trials been delayed since the EU regulation came into play. Furthermore, industry has sought to avoid the costs engendered by the increased regulation by moving trials out of Europe. Thus, by the end of 2005, “it was estimated that the number of European trials submitted for grants or ethical review had fallen by 30% to 50% and that the proportion of noncommercial trials was reduced from 40% to 14%”. The authors observe that the desired European harmonisation of laws has not materialised and that “the ability…to compete with the better funded US noncommercial trials has been damaged, perhaps irreversibly”. In particular, emergency medicine has been impeded, along with noncommercial paediatric trials. Although EU Regulation 1901/2006, which came into force in 2007, was created specifically for the development of medicinal products for children, it insists on full compliance with the Clinical Trial Directive. Citing the phenomenon of “regulatory creep” in which regulations are over-interpreted, the authors instead call for some “regulatory retreat” where “academics try to ensure that the interpretation of any rules and procedures that are not mandated by law are the most favourable for academic research whilst ensuring patient safety”. They invite other areas of the world to learn “from the misguided trial regulations that have been created in Europe”.
Consult the open access article
New Syndromes
Limbic encephalitis with seizures linked to antibodies to the GABA(B) receptor
Some encephalitides or seizure disorders once thought idiopathic now seem to be immune mediated. The authors describe a limbic encephalitic disorder in 15 patients. GABA(B) receptor autoimmune encephalitis is a potentially treatable disorder characterised by seizures and, in some patients, associated with small-cell lung cancer and with other autoantibodies.
Read the PubMed abstract
New Genes
Autosomal recessive nonsyndromic deafness: DFNB79 locus on chromosome 9q34.3 identified
Genetic analysis of two consanguineous Pakistani families, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for the identification of a new locus: DFNB79 on chromosome 9q34.3 with 113 candidate genes.
Read the PubMed abstract
Primary cutaneous amyloidosis: IL31RA gene mutation identified
Primary cutaneous amyloidosis (PCA) is an itchy skin disorder associated with amyloid deposits in the superficial dermis. Mutations in the OSMR gene, which encodes the interleukin-6 family cytokine receptor oncostatin M receptor beta, have been reported. The authors investigated now report a point mutation in the IL31RA gene identified in Taiwanese patients with PCA.
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Nonsyndromic autosomal recessive intellectual deficit: impaired NF-kappaB signalling at cause
Autosomal-recessive inheritance accounts for nearly 25% of nonsyndromic intellectual deficit. Five causal genes have thus far been identified. Now, three separate research groups have simultaneously discovered a sixth gene. The TRAPPC9 gene encodes a NF-kappaB-inducing kinase (NIK) and IkappaB kinase complex beta (IKK-beta) binding protein. The three studies elucidate the NF-kappaB signalling defect at cause for nonsyndromic autosomal recessive intellectual deficit.
Read the first PubMed abstract
Read the second PubMed abstract
Read the third PubMed abstract
Am J Hum Genet ; 903-908 ; December 2009
Am J Hum Genet ; 909-915 ; December 2009
Spondylo-megaepiphyseal-metaphyseal dysplasia: homozygous inactivating mutations in the NKX3-2 gene identified
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. The limbs appear relatively long and may show flexion contractures of the distal joints. The most remarkable radiographic features are the delayed and impaired ossification of the vertebral bodies as well as the presence of large epiphyseal ossification centres and wide growth plates in the long tubular bones. In three consanguineous families with SMMD, different homozygous inactivating mutations were found in NKX3-2, a homeobox-containing gene located on chromosome 4p15.33.
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Adducted thumb-clubfoot syndrome: loss of dermatan-4-sulfotransferase 1 function at cause
Adducted thumb-clubfoot syndrome is an autosomal-recessive disorder characterised by typical facial appearance, wasted build, thin and translucent skin, congenital contractures of thumbs and feet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. The authors elucidate the molecular basis of the disease by identifying distinct homozygous nonsense and missense mutations in the CHST14 gene in four consanguineous families with this disease. The CHST14 gene encodes N-acetylgalactosamine 4-O-sulfotransferase 1 (D4ST1), which catalyzes 4-O sulfation of N-acetylgalactosamine in the repeating iduronic acid-alpha1,3-N-acetylgalactosamine disaccharide sequence to form dermatan sulfate. These results indicate that adducted thumb-clubfoot syndrome is a disorder resulting from a defect specific to dermatan sulfate biosynthesis and emphasise the role of dermatan sulfate in human development and extracellular-matrix maintenance.
Read the PubMed abstract
Research in Action
Fundamental Research
Fragile X syndrome: a mouse model of the human I304N mutation
The intellectual deficit, autistic features, and behavioural abnormalities characteristic of the Fragile X intellectual deficit syndrome result from the loss of function of the RNA-binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5’UTR of the FMR1 gene that leads to loss of function through transcriptional gene silencing. Missense mutations offer one means of confirming a central role for FMRP in the disease, but to date, only one such patient has been described, who harbours an isoleucine to asparagine mutation (I304N) in the second FMRP KH-type RNA-binding domain. This single case report is complicated as the patient harboured a superimposed familial liver disease. The authors generated a new Fragile X syndrome mouse model in which the endogenous Fmr1 gene harbours the I304N mutation. These mice phenocopy the symptoms of Fragile X syndrome in the existing Fmr1-null mouse. I304N FMRP retains some functions, but has specifically lost RNA binding and polyribosome association; moreover, levels of the mutant protein are markedly reduced in the brain specifically at a time when synapses are forming postnatally. These data suggest that loss of FMRP function, particularly in KH2-mediated RNA binding and in synaptic plasticity, play critical roles in pathogenesis of the Fragile X syndrome and establish a new model for studying the disorder.
Read the PubMed abstract
Clinical Research
Spinal muscular atrophy: SMN transcript levels in leukocytes of patients determined by absolute real-time PCR
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Three forms of SMA are recognised (type I-III) on the basis of clinical severity. All patients have at least one or more (usually 2-4) copies of a highly homologous gene (SMN2), which produces insufficient levels of functional SMN protein. Recently, evidence has been provided that SMN2 expression can be enhanced by pharmacological treatment. However, no reliable biomarkers are available to test the molecular efficacy of the treatments. The authors have developed a novel assay based on absolute real-time PCR, which allows the quantification of SMN1-full-length/SMN2-full-length transcripts. For the first time, they have shown that SMN-full-length levels are reduced in leukocytes of type II-III patients compared with controls. They also found that transcript levels are related to clinical severity. SMN2-full-length dosage in leukocytes can be considered a reliable biomarker and can provide the rationale for SMN dosage in clinical trials.
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Addison disease: clinical, immunological, and genetic observations from a Norwegian registry
Primary adrenal insufficiency, also known as Addison disease (AD) is rare, and systematic studies are few, mostly conducted on small patient samples. The authors describe the findings gleaned from a registry of patients. The prevalence of autoimmune or idiopathic AD in Norway was 144 per million, and the incidence was 0.44 per 100,000 per year (1993-2007). Familial disease was reported by 10% and autoimmune comorbidity by 66% of the patients registered. AD was almost exclusively autoimmune, with high autoimmune comorbidity. Both anti-21-hydroxylase antibodies and HLA class II can be clinically relevant predictors of AD. Health-related quality of life is reduced, especially among diabetes patients, whereas thyroid disease did not have an impact.
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The biological coherence of human phenome databases
Disease networks are increasingly explored as a complement to networks centered around interactions between genes and proteins. The quality of disease networks is heavily dependent on the amount and quality of phenotype information in phenotype databases of human genetic diseases. The authors explored which aspects of phenotype database architecture and content best reflect the underlying biology of disease. They used the OMIM-based HPO, Orphanet, and POSSUM phenotype databases for this purpose and devised a biological coherence score based on the sharing of gene ontology annotation to investigate the degree to which phenotype similarity in these databases reflects related pathobiology. Their analyses support the notion that a fine-grained phenotype ontology enhances the accuracy of phenome representation. In addition, they find that the OMIM database that is most used by the human genetics community is heavily underannotated. The authors show that this problem can easily be overcome by simply adding data available in the POSSUM database to improve OMIM phenotype representations in the HPO. Also, they find that the use of feature frequency estimates--currently implemented only in the Orphanet database--significantly improves the quality of the phenome representation. These data suggest that there is much to be gained by improving human phenome databases and that some of the measures needed to achieve this are relatively easy to implement. More generally, they propose that curation and more systematic annotation of human phenome databases can greatly improve the power of the phenotype for genetic disease analysis.
Read the PubMed abstract
Gene Therapy
Metachromatic leukodystrophy: efficient intracerebral delivery of AAV5 vector encoding human ARSA in primates
Metachromatic leukodystrophy (MLD) is a lethal neurodegenerative disease caused by a deficiency in the lysosomal arylsulfatase A (ARSA) enzyme leading to the accumulation of sulfatides in glial and neuronal cells. The authors previously demonstrated in ARSA-deficient mice that intracerebral injection of a serotype 5 adeno-associated vector (AAV) encoding human ARSA corrects the biochemical, neuropathological and behavioral abnormalities. However, before considering a potential clinical application, scaling-up issues should be addressed in large animals. They performed intracerebral injection of the same AAV vector in six non-human primates to evaluate vector distribution, as well as expression and activity of human ARSA. The procedure was perfectly tolerated, without any adverse effect or change in neurobehavioural examination. ARSA activity was increased by 12-38% in a brain volume that corresponded to 50-65% of injected hemisphere. These data provide substantial evidence for potential benefits of brain gene therapy in patients with MLD.
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Glioblastoma: highly efficient eradication using Eg5 siRNA combined with HVJ envelope vector
Hemagglutinating virus of Japan envelope (HVJ-E) vector with inactivated replication-defective Sendai virus was originally developed as a versatile drug delivery system. Recently, the authors have shown the direct tumour-killing activity of HVJ-E itself without therapeutic molecules in prostate cancer cells. Although human glioblastoma cells were also sensitive to HVJ-E treatment, complete eradication was not achieved using HVJ-E alone. Here, to develop more effective therapeutic strategy of glioblastoma, the authors enhanced the anti-tumour activity by incorporating Short interfering RNA (siRNA) of mitotic motor protein Eg5 into HVJ-E. Treatment with HVJ-E-containing Eg5 siRNA induced monopolar spindle formation and resulted in cell-cycle arrest and apoptosis. When HVJ-E-containing Eg5 siRNA was directly injected into an intradermal tumour xenograft, all mice became tumour-free. Similar results were observed in the intracranial tumor xenografts. The survival time of treated mice was significantly prolonged when HVJ-E was used.
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Comprehensive genomic access to vector integration in clinical gene therapy
Retroviral vectors have induced subtle clonal skewing in many gene therapy patients and severe clonal proliferation and leukaemia in some of them, emphasising the need for comprehensive integration site analyses to assess the biosafety and genomic pharmacokinetics of vectors and clonal fate of gene-modified cells in vivo. Integration site analyses such as linear amplification-mediated PCR (LAM-PCR) require a restriction digest generating unevenly small fragments of the genome. Here the authors show that each restriction motif allows for identification of only a fraction of all genomic integrants, hampering the understanding and prediction of biological consequences after vector insertion. They developed a model to define genomic access to the viral integration site that provides optimal restriction motif combinations and minimises the percentage of nonaccessible insertion loci, introducing a new nonrestrictive LAM-PCR approach that has superior capabilities for comprehensive unbiased integration site retrieval in preclinical and clinical samples independent of restriction motifs and amplification inefficiency.
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Therapeutic Approaches
Stüve-Wiedemann syndrome: in vitro readthrough of termination codons by gentamycin
The Stüve-Wiedemann syndrome (SWS) is a frequently lethal chondrodysplasia caused by null mutations in the leukaemia inhibitory factor receptor gene (LIFR) responsible for an impaired activation of the JAK-STAT pathway after LIF stimulation. Most LIFR mutations are nonsense mutations, thus prompting the authors to investigate the impact of aminoglycosides on the readthrough of premature termination codons (PTCs). Culturing skin fibroblasts from three SWS patients and controls for 48 h in the presence of gentamycin (200-500 microg/ml) partially restored the JAK-STAT3 pathway when stimulated by LIF. Consistently, quantitative RT-PCR analysis showed that gentamycin stabilized LIFR mRNAs carrying UGA premature termination codons. The authors conclude that high gentamycin concentrations can partially restore functional LIFR protein synthesis in vitro, prompting them to investigate PTC readthrough using less toxic and more efficient drugs in this presently untreatable lethal condition.
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Huntington disease: specific changes to the NMDA receptor activity modified symptoms in mice
Huntington disease is caused by an expanded CAG repeat in the gene encoding huntingtin (HTT), resulting in loss of striatal and cortical neurons. Given that the gene product is widely expressed, it remains unclear why neurons are selectively targeted. Here the authors show the relationship between synaptic and extrasynaptic activity, inclusion formation of mutant huntingtin protein (mtHtt) and neuronal survival. Treatment of transgenic mice with low-dose memantine blocks extrasynaptic (but not synaptic) extrasynaptic Synaptic N-methyl-D-aspartate-type glutamate receptors and ameliorates neuropathological and behavioral manifestations. By contrast, high-dose memantine, which blocks both extrasynaptic and synaptic NMDAR activity, decreases neuronal inclusions and worsens these outcomes. These findings offer a rational therapeutic approach for protecting susceptible neurons in Huntington disease.
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Patient Management and Therapy
Juvenile idiopathic arthritis: etanercept improves health-related quality of life
To evaluate changes in health-related quality of life (HRQoL) in patients with refractory juvenile idiopathic arthritis (JIA) who are being treated with etanercept, 53 patients were followed. During etanercept treatment both disease-specific and generic HRQoL outcomes improved dramatically. Significant improvements were shown after 3 months and these improvements continued at least up to 27 months of treatment.
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Fabry disease: enzyme replacement therapy with agalsidase alfa beneficial
The authors analysed 5-year treatment with agalsidase alfa enzyme replacement therapy in patients with Fabry disease who were enrolled in the Fabry Outcome Survey observational database (FOS). By comparison with historical natural history data for patients with Fabry disease who were not treated with enzyme replacement therapy, long-term treatment with agalsidase alfa leads to substantial and sustained clinical benefits.
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Primary hyperparathyroidism: cinacalcet treatment well tolerated
Primary hyperparathyroidism (PHPT) is characterised by chronically elevated serum calcium and inappropriately normal or increased PTH. Forty-five subjects with PHPT from a double-blind, placebo-controlled, 1-yr trial were continued into this study. Treatment of PHPT patients with cinacalcet for up to 5.5 yr maintained normocalcemia, reduced plasma PTH, increased serum phosphate and alkaline phosphatase, and was well tolerated.
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Duchenne/Becker muscular dystrophy: USA prevalence among males aged 5-24 years
Duchenne and Becker muscular dystrophies (DBMD) are neuromuscular diseases characterised by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. Accurate population based prevalence estimates of DBMD provide information to policy makers, health-care providers, and payers for the planning and provision of services. A report published in the USA’s Centers for Disease Control Morbidity and Mortality Weekly Report presents the first population-based assessment of DBMD prevalence in the United States, based on figures taken from four states. The overall site-specific prevalence at January 1, 2007 is 1.3-1.8 per 10,000 males aged 5-24 years.
Consult the report
Turner syndrome: androgen replacement therapy improves quality of life
Women with Turner syndrome (TS) have reduced levels of androgens due to ovarian failure. Morbidity associated with TS, such as bone fragility, metabolic changes, obesity, neurocognitive profile, and sexual problems may partly relate to androgen insufficiency and improve on androgen replacement therapy (ART). Fourteen TS women (aged 17-27 yr) participated in a randomised, double-blind, placebo-controlled crossover pilot. ART as compared with placebo reduced total cholesterol, triglycerides, and high-density lipoprotein cholesterol. It improved bone mineral density, increased lean body mass, and decreased fat mass. ART improved attention, reaction time, and verbal memory and had no effect on executive functions and spatial cognition. Patients reported improved QOL, including general health, coping with stress, and sexual desire.
Read the PubMed abstract
Orphan Drugs
Fifty years of thalidomide: the teratogenic mechanisms are finally understood amidst a growing list of potential indications
An in-depth article appearing in BioEssays explores the history of thalidomide, from its tragic debut as a morning sickness remedy to the myriad potential indications it offers today – including treatment for several rare conditions. The author illuminates the recently uncovered antiangiogenic mechanisms that cause severe limb and other birth defects, identifies several challenges that need to be met (such as species specificity), and evokes the need for a framework to safely harness the drug’s potential. Unfortunately, the “global renaissance” of thalidomide is spawning a new wave of embryopathy in Africa and Latin America, where the molecule is being used in the treatment of leprosy. However, the “large number of isolated metabolic byproducts and analogues of thalidomide” allow for the elucidation of how the drug causes limb defects, which in turn offers hope for the production of a drug form that offers the clinical benefits without the teratogenic side effects.
Consult the text
CHMP’s 60th orphan drug approval is for rare condition Lambert-Eaton myasthenic syndrome
The European Medicines Agency’s Committee for Medicinal Products for Human Use issued a positive option for Zenas (amifampridine) from EUSA Pharma for the symptomatic treatment of Lambert-Eaton myasthenic syndrome, a very rare paraneoplastic neuromuscular disorder in which an autoimmune response directed against small-cell lung tumour cross-reacts with antigens in the neuromuscular junction. The CHMP recommended that Zenas be granted marketing authorisation under “exceptional circumstances” – through which an authorisation may be granted subject to certain specific obligations, to be reviewed annually.
FDA approves several rare disease treatments in latter part of 2009
In the United States, the Food and Drug Administration has approved several rare disease medicinal products. Kalbitor (ecallantide) from Dyax Corp (Cambridge, MA) is the second product approved for the treatment of hereditary angioedmema (HAE) attacks. HAE is a genetic disease characterised by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and abdominal pain. In October 2009, the FDA approved Berinert, from CSL Behring, Inc (Marburg, Germany) to treat facial and abdominal HAE attacks. Other FDA approved products in recent months include Arzerra (ofatumumab) from Glaxo Group for the treatment of chronic lymphocytic leukaemia, Valcyte (valganciclovir hydrochloride) from Roche Laboratories for the prevention of cytomegalovirus disease in paediatric kidney and heart transplant patients, Votrient (pazopanib) from GlaxoSmithKline to treat patients with advanced renal cell carcinoma, and Istodax (romidepsin) marketed by Gloucester Pharmaceuticals for the treatment of cutaneous T-cell lymphoma.
News from the Patients' Associations
Leader of Irish charity Fighting Blindness receives honorary degree for his efforts to stimulate research
Dublin’s prestigious Trinity College conferred a Doctorate of Science upon Michael Griffith, founding chairman and chief executive of the charity Fighting Blindness who “played a crucial role in the development of biomedical research in Ireland and of genetics at Trinity in particular”…and whose “support and fundraising efforts since the 1980s led to the mapping of the genes responsible for retinitis pigmentosa”…. Mr. Griffith, considered a leader in Irish and international patient organisations has been “instrumental in making Ireland a world-class destination for vision research”. Indeed, he helped establish the Fighting Blindness Vision Research Institute which funds and coordinates retinal research throughout Ireland. Fighting Blindness presently supports more than 14 research projects on eye diseases. During the conferral ceremony, Trinity’s orator publicus Anna Chahoud proclaimed of Michael Griffith:
His extraordinary vision has restored the light to obfuscated sight; his lifelong commitment to science has sparked flashes of hope to where darkness had hitherto ruled unchallenged; in inspirational leadership has set an example, in this country and in this College, for the entire world to follow.
OrphaNews Europe extends its most heartfelt congratulations – and gratitude – to Michael Griffith.
What's on Where?
2010 Neuromuscular Disorders Conference: Toward a Better Future
Date: 26-27 February 2010
Venue: Sydney, Australia
Featuring a stimulating and progressive programme disseminating the most recent research in the field of neuromuscular conditions, this conference will provide an exciting poster session where up and coming researchers will have an opportunity to present their research to the neuromuscular community.
For further details
3rd International Rare Disease Day
Date: 28 February 2010
Venue: Worldwide
This year’s theme: “Patients and Researchers: Partners for Life!”
For further details
2nd Pan-European Conference on Haemoglobinopathies
Date: 13-14 March 2010
Venue: Berlin, Germany
This conference aims to further strengthen the national and regional support networks for thalassaemia patients in Europe, and increase awareness among European medical professionals and national health authorities of the disorder, its proper management and prevention.
For further details
6th International Conference on Rare Diseases and Orphan Drugs
Date: 18-20 March 2010
Venue: Buenos Aires, Argentina
The 6th International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) for the first time will be convened in the southern hemisphere in agreement with its aim of globalisation of rare disease research and orphan products development activities.
For further details
Sickle Cell: The Next 100 Years
Date: 14-16 April 2010
Venue: Leicester, United Kingdom
Sickle Cell: The Next 100 Years will mark the 100th anniversary since Dr James Herrick published his first observations on ’peculiar elongated cells’, what is now known as sickle cell disease. This three day conference will bring together a selection of papers offering delegates the chance to explore the social research currently being carried out around the world. Deadline for abstract submission: 15 February 2010.
For further details
ESH-EHA Conference: Innovative Therapies for Red Cell and Iron Related Disorders
Date: 16-18 April 2010
Venue: Cascais, Portugal
Sessions include: Hematopoietic stem cell therapies; molecular switching in erythroid differentiation; gene therapy; iron regulatory pathway for therapies; innovative therapies for red cell disorders, and more.
For further details
18th International Workshop on Vascular Anomalies
Date: 21-24 April 2010
Venue: Brussels, Belgium
Topics will include clinical and basic research in the pathophysiology, diagnosis and management of vascular anomalies, as well as the psychosocial challenges faced by the patients.
For further details
Birt-Hogg-Dubé syndrome Symposium 2010
Date: 22 April 2010
Venue: Washington, DC USA
A symposium for reviewing the latest developments for Birt-Hogg-Dubé syndrome.
For further details
5th European Conference on Rare Diseases 2010
Date: 13-15 May 2010
Venue: Crakow, Poland
“From policy to effective services for patients”, this conference will look at national plans and strategies for rare diseases, European reference networks and centres of expertise, information and medical education, science from bench to bedside, rare diseases in central and Eastern Europe, and much more.
For further details
7th International Prader-Willi Syndrome Conference: East Meets West – A New World for Prader-Willi Syndrome
Date: 20-23 May 2010
Venue: Taipei, Taiwan
A scientific conference bringing together clinicians and researchers from around the world to present and discuss new research findings relevant to the understanding of PWS, new treatments and support strategies, and policy and practice development will be held alongside and combined with a parent and care-provider conference. There is also a young persons’ programme designed especially by the host country.
For further details
22nd Annual Meeting of the European Academy of Childhood Disability
Date: 27-29 May 2010
Venue: Brussels, Belgium
This year’s event - Measures of Progress – Evaluating management outcome in childhood disability - will update and clarify the multidimensional model of disablement specifically applied to management of children with neurodevelopmental disability. Emphasis is on the need for reliable measurement of management outcomes through new findings, from functional imaging to quality of life assessment. Deadline for abstract submission: 1 February 2010
For further details
First International Workshop on Oesophageal Atresia
Date: 27-28 May 2010
Venue: Lille, France
Amongst the topics covered will be: molecular embryology of the foregut; environmental factors in the etiology of esophageal atresia; genetic factors in isolated and syndromic esophageal atresia; ultrasound and MRI prenatal diagnosis of OA: impact on management; Outcomes of esophageal atresia beyond childhood; multidisciplinary clinics: how to improve the follow-up of the patients?; and family support groups: an essential contribution to follow-up care.
For further details
European Human Genetics Conference 2010
Date: 12-15 June 2010
Venue: Gothenburg, Sweden
In conjunction with the European Meeting on Psychosocial Aspects of Genetics. Deadline for Abstract Submission: 19 February 2010.
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International Congress for Tarlov Cysts and Adhesive Arachnoiditis
Date: 2-3 July 2010
Venue: Chambéry, France
International health professionals will discuss recent findings on Tarlov and meningeal cysts, Arachnoïditis, Cauda Equina syndrome, and neuropathic pain. Patients will share their experience. Translations available in English, French and Spanish.
For further details
14th International Conference on Behçet Disease
Date: 8-10 July 2010
Venue: London, England
Presenting new developments in basic and clinical science to bear on the specific issues of Behçet Disease (BD). Topics to be covered will include immunology of BD, vasculitis in BD, genetic basis of BD, regional inflammation and paediatric BD. The programme will also include debates on topics of current interest or controversy.
For further details
MEN 2010: 12th International Workshop on Multiple Endocrine Neoplasia
Date: 16-18 September 2010
Venue: Viareggio, Italy
This two-day meeting will provide a forum for educating basic and clinical investigators on the most recent advances in the area of hereditary endocrine tumours.
For further details