21 April 2010 print
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Participants migrate to Southern hemisphere for sixth International Conference on Rare Diseases and Orphan Drugs

The International Conference on Rare Diseases and Orphan Drugs (ICORD) crossed the equator for the first time to convene in Argentina in mid-March. Hosted by the Latin American and Caribbean countries patient organisation GEISER (learn more) the conference capitalised on the efforts already underway to raise visibility and activity in the region. ICORD is an annual event conceived to promote global collaboration in the field of rare diseases and orphan drugs. The first meeting was held in 2005 in Stockholm and subsequent meetings have taken place each year in Madrid, Brussels, Washington, and Rome. This year’s theme “Global Approaches to Research and Patient Access to Diagnosis, Information and Care, And the Common Issues with Neglected Diseases in Developing Countries” has particular relevance in the region. With sixteen formal sessions and five additional activities, some 350 participants hailing from over 25 different countries (including Australia, Brazil, Chile, China, Colombia, Ecuador, Japan, Mexico, Panama, Peru and Uruguay) were in attendance. One plenary session chaired by ICORD president Stephen Groft and Kerstin Westermark explored From Pioneer Countries to the Rest of the World; and another, chaired by Ségolène Aymé and Sharon Terry focused on The Development of Information. In addition, nine round table sessions featured topics such as Turning rare diseases into an international priority; Initiatives from the public institutions; Research; Patients and family care; Best practices in the approval of orphan products; Bioethics; Linking needs with neglected diseases; Strategies for accessibility; and International initiatives. Furthermore, several Working Groups gathered to explore Regulatory needs; Research; Patient/Family; Diagnosis; Accessibility; and other topics. A satellite symposium proposed by the Pan American Health Organization (PAHO/WHO) on The impact of high cost drugs in developing countries was also held. Other notable presentations included those by GEISER founder Virginia Llera on Including the Developing Countries in the International Scenario of Rare Diseases and Orphan Drugs; Orphanet director Ségolène Aymé on A Review of the International Classification of Diseases; and Tim Coté describing The FDA Foreign Offices and its Impact in the Orphan Drugs Field. A series of related courses were also on offer from the Latin American Society for Rare Disease Medical Research (SLADIMER). Significantly, the event was declared of national importance by the Argentinean Government, and was supported by the Pan American Health Organization as well as the local Embassies of the USA and Sweden, among others. These official connections related to rare diseases are unprecedented in the region. Tokyo, Japan has tentatively been proposed as the location for ICORD 2011 conference. Dr. Domenica Taruscio from Italy has been newly elected as president of the organisation and Dr. Virginia Llera from Argentina will serve as the President-Elect for a two-year period.

EU Policy News
Round table looks at ways to support ageing haemophilia patients in Europe

As life expectancies are growing for a number of rare disorders, the question of how to help patients age well and sustain their quality of life is becoming more pertinent. A Round Table meeting held in February of this year by the European Haemophilia Consortium considered the topic Ageing and Haemophilia - How to address the economic and medical challenges of ageing with Haemophilia and support the patients? More than 30 participants attended the event – including clinicians, patients, members of industry, and government representatives. A multi-disciplinary approach emphasising patients’ social and psychological needs was evoked. In a press release, a "broad consensus on the need to adopt cost effective strategies on the treatment of Haemophilia due to the economic impact of co-morbidities affecting ageing patients" was noted.
Learn more


National & International Policy Developments
England creates new advisory body for very rare conditions
A new advisory body will be created in England covering specialised services and treatments for extremely rare conditions typically affecting fewer than 500 patients. Following a consultation, the current National Commissioning Group will be dissolved and a new body, the National Commissioning Advisory Group (NCAG), will be established. The NCAG will make recommendations directly to Ministers about which services should be designated for national commissioning. The Group will also consider a small number of new technologies for small patient populations which fall outside NICE’s remit, but which may be suitable for national specialised commissioning. Any decisions that the NCAG will make about services and technologies will be guided by a decision-making framework which draws in part on work done by the Specialised Healthcare Alliance around ethical considerations. Membership of the group will be wide-ranging and will include both commissioning and clinical representation, as well as an ethicist. The Department of Health aims for the NCAG to begin making commissioning decisions in the summer and autumn of this year.
Swedish stakeholders wonder about their country’s strategy to address the needs of its rare disease community
A meeting organised by the editor of Dagens Medicin, Sweden’s most read paper for medical professionals, took place on 25 March in Stockholm. The main topic on the agenda was the recent demand from the European Union regarding a national strategy and action plan for orphan drugs and rare diseases. Over one hundred health professionals, policy-makers, patient organisation representatives, and members of companies involved in orphan drug development spent the day reviewing the difficulties faced by patients. The French strategy was presented and discussed as an example of good practice in the field. Much of the discussion focused on the assessment of marketed drugs for reimbursement as participants were not happy with some recent decisions on this issue. Participants also expressed the sentiment that Sweden is lagging behind, though it was the leading country in the field in the 1990s. Indeed, Sweden was amongst the first European countries to distinguish rare diseases – which it defined as conditions with a prevalence of less than one in 10,000, (compared to the EU definition of 5 in 10,000). It appears that the present lag is due to the absence of a mechanism that would allow stakeholders to meet and discuss - something that can be easily resolved if the political will is there. Currently a report on the present organisation of the healthcare system regarding services for rare disease patients is in preparation but without prior discussion with main third-parties - an approach which was viewed as less than optimal for the appropriate preparation of a strategy. Also, deep disappointment was voiced that the report will be descriptive only and does not offer solutions or improvements. Experts stressed the point that considerations on rare disorders need to extend beyond orphan drugs. As delineated by the European Council Recommendation on an Action in the Field of Rare Diseases, the need for specialist centres, involvement and empowerment of patients and their families, a better definition of rare diseases, and support for the development of registries and the formation of European professional groups were also evoked. Several constructive proposals were put forward during the discussions and a high-level politician participating in the meeting declared her continuing commitment to promote rare diseases in the Swedish parliament.
Other European news
Official 2010 EPPOSI workshop report now available
EPPOSI, the patient-led EU partnership of patients, academic science and industry, has released the official report of its Tenth Workshop on Partnering for Rare Disease Therapy Development. Founded in 1994 to facilitate the exchange of information and ideas between the various stakeholders, EPPOSI focuses on building dialogue, consensus positions and policy recommendations. The latest rare disease workshop, held in Brussels in late October 2009, was entitled Ten Years After the Adoption of the EU Orphan Medicines Regulation: Where Do We Go? The event took on three diverse yet equally critical issues:
  • What is the impact of the economic crisis on the field of rare diseases – and what is the vision on further progress in R&D, diagnosis and patient care?
  • Building on the public policy base of the last 10 years: how to advance policies in the next five years?
  • Rare cancers: specific challenges within rare diseases
  • The report from this workshop is available on the EPPOSI website.

    In honour of Polish First Lady Maria Kaczynska, let’s make this the best European Conference on Rare Diseases possible

    Poland’s First Lady Maria Kaczynska, who died in the 10 April plane accident that also took the life of the country’s president and other leading political, military, and church figures, will be sadly missed at the upcoming European Conference on Rare Diseases, scheduled to take place in Poland in mid-May. Mrs. Kaczynska had generously extended her support to the event and would have been the Honorary Patron for the conference. OrphaNews Europe offers condolences to the people of Poland and hopes that in honour of the First Lady, the European Conference on Rare Diseases is particularly meaningful and productive. The conference is indeed shaping up to be a fruitful event: almost 500 participants have registered so far from over 40 different countries – including 18 from Central and Eastern Europe. Registrants include patient representatives, health care professionals, researchers, policy makers, and members of industry. Some 75 speakers will participate in 25 different sessions relating to the pertinent theme From Policy to Effective Services for Patients. Registration is still open for this key rare disease event.
    For further details


    Ethical, Legal & Social Issues
    New website tracking socio-ethical issues in the field of ‘-Omics’ launches

    The OMICS-ETHICS website launched in late February to provide a venue for the projects the University of Montreal (Quebec, Canada) OMICS-ETHICS research group is undertaking – namely, socio-ethical issues associated with certain “-omics” - including topics relevant to the rare disease community, such as public health genomics and pharmacogenomics. The group seeks to “develop tools that can provide appropriate guidance in ethics-related matters to stakeholders…” The website will also track emerging ethical issues, to be updated on a regular basis in the site’s “News” and “Resources” sections. E-alerts are also available. Learn more


    EU Project Follow-up
    EuroMyasthenia website offers patients their own space

    The European Myasthenia Gravis Network (EuroMyasthenia ) was funded as a Public Health project under the EU Directorate General for Health and Consumer Affairs through the end of 2009. While an application has been submitted for an operating grant that would continue funding the network activities in 2011, members of the network are meanwhile maintaining several activities on a voluntary basis - including the European database that was started through the project, the translation of an informational booklet, a quarterly newsletter, and the network website which serves as a communication tool for the various stakeholders - clinicians, scientists, patients, and others. Indeed, a new section on the website has recently been inaugurated: The Patients’ Corner invites patients to share their experience of life with myasthenia gravis and to put forward any advice that could help others suffering from the disease. Learn more


    Orphanet News
    Thanks, Dr. House –
    Curmudgeonly television doctor unwittingly leads viewers to Orphanet

    The results of the recent multi-language satisfaction survey conducted by Orphanet are still being collated – but amongst the hundreds of replies, one made Orphanet staff members smile. A respondent described how the television medical drama programme House depicted a patient with the same symptoms he was experiencing himself. When the grumpy Dr. House finally pronounced the diagnosis, the viewer went straight to the Internet to type in the disease – his Google search brought him straight to Orphanet!

    New Syndromes

    Duplications on chromosome 16p13.3 cause novel syndrome
    The authors describe the genotypic and phenotypic delineation of nine submicroscopic interstitial 16p13.3 duplications. The critically duplicated region encompasses a single gene, CREBBP, which is mutated or deleted in Rubinstein-Taybi syndrome. Interstitial 16p13.3 duplications are characterised by normal to moderate intellectual deficit, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant.
    Read the PubMed abstract

    J Med Genet ; 155-161 ; March 2010
    Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease
    Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, the authors identified in ten patients a mutation resulting in truncation of ITCH, representing the first reported human phenotype associated with ITCH deficiency. These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities.
    Read the PubMed abstract

    Am J Hum Genet ; 447-453 ; 12 March 2010
    ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome
    The authors present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, ANKRD11 and ZNF778.
    Read the PubMed abstract

    Eur J Hum Genet ; 429-435 ; April 2010
    Microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities
    Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spots in chromosome evolution and human genomic instability. The authors report seven individuals with microdeletions at 17q23.1q23.2 presenting with mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, and hand, foot, and limb abnormalities. Although all individuals had at least mild dysmorphic facial features, there was no characteristic constellation of features that would elicit clinical suspicion of a specific disorder.
    Read the PubMed abstract

    Am J Hum Genet ; 454-461 ; 12 March 2010

    New Genes

    Brown-Vialetto-van Laere syndrome is caused by mutations in c20orf54
    Brown-Vialetto-van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. The authors identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families.
    Read the PubMed abstract

    To read more about "Brown-Vialetto-van Laere syndrome"

    Am J Hum Genet ; 485-489 ; 12 March 2010
    Fowler syndrome: mutations in FLVCR2 are associated
    Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal lethal disorder characterised by hydranencephaly; brain stem, basal ganglia, and spinal cord diffuse clastic ischemic lesions with calcifications; glomeruloid vasculopathy of the central nervous system and retinal vessels; and a foetal akinesia deformation sequence (FADS) with muscular neurogenic atrophy. The authors identified five different germline mutations in the FLVCR2 gene in five families with Fowler syndrome. FLVCR2 encodes a transmembrane transporter of the major facilitator superfamily hypothesised to be involved in regulation of growth, calcium exchange, and homeostasis.
    Read the PubMed abstract

    To read more about "Fowler syndrome"

    Am J Hum Genet ; 471-478 ; 12 March 2010
    Potocki-Lupski syndrome: the RAI1 gene singled out
    Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders associated with a 3.7 Mb deletion and its reciprocal duplication in 17p11.2, respectively. In addition to these common recurrent rearrangements, an uncommon recurrent 5 Mb SMS-associated deletion has been identified. However, its reciprocal duplication predicted by the NAHR mechanism had not been identified. Here the authors report the molecular assays on 74 subjects with PTLS-associated duplications and identified two cases of the predicted 5 Mb uncommon recurrent PTLS-associated duplication. The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism.
    Read the PubMed abstract

    To read more about "Trisomy 17p11.2"

    Am J Hum Genet ; 462-470 ; 12 March 2010
    Spinocerebellar ataxia type 28: mutations in the mitochondrial protease gene AFG3L2 at cause in dominant hereditary form
    Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterised by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here the authors show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome.
    Read the PubMed abstract

    To read more about "Spinocerebellar ataxia type 28"

    Nat Genet ; 313-321 ; April 2010
    Brachydactyly type E: deletion and point mutations in PTHLH at cause
    Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterised by small hands and feet predominantly as a result of shortened metacarpals and metatarsals. In a large pedigree with BDE, short stature, and learning disabilities, the authors detected a microdeletion of approximately 900 kb encompassing PTHLH, the gene coding for parathyroid hormone related protein (PTHRP). PTHRP is known to regulate the balance between chondrocyte proliferation and the onset of hypertrophic differentiation during endochondral bone development. The authors tested further individuals with BDE and short stature for mutations in PTHLH and identified two missense, a nonstop, and a nonsense mutation.
    Read the PubMed abstract

    To read more about "Brachydactyly type E"

    Am J Hum Genet ; 434-439 ; 12 March 2010
    Osteogenesis imperfecta: a mutation in SERPINH1, encoding collagen chaperone protein HSP47, results in severe recessive form
    Osteogenesis imperfecta (OI) is characterised by bone fragility and fractures that may be accompanied by bone deformity, dentinogenesis imperfecta, short stature, and shortened life span. About 90% of individuals with OI have dominant mutations in the type I collagen genes COL1A1 and COL1A2. Recessive forms of OI resulting from mutations in collagen-modifying enzymes and chaperones CRTAP, LEPRE1, PPIB, and FKBP10 have recently been identified. The authors have identified an autosomal-recessive missense mutation in SERPINH1, which encodes the collagen chaperone-like protein HSP47, that leads to a severe OI phenotype.
    Read the PubMed abstract

    To read more about "Osteogenesis imperfecta"

    Am J Hum Genet ; 389-398 ; 12 March 2010
    Distal hereditary motor neuropathy: mutations in the copper transporter gene ATP7A cause X-linked form
    Distal hereditary motor neuropathies comprise a clinically and genetically heterogeneous group of disorders. Although ATP7A mutations are typically associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome, the authors demonstrate here that certain missense mutations at this locus can cause a syndrome restricted to progressive distal motor neuropathy without overt signs of systemic copper deficiency. This previously unrecognised genotype-phenotype correlation suggests an important role of the ATP7A copper transporter in motor-neuron maintenance and function.
    Read the PubMed abstract

    To read more about "Distal hereditary motor neuropathy"
    To read more about "Menkes disease"

    Am J Hum Genet ; 343-352 ; 12 March 2010
    Distal arthrogryposis type 1: myosin binding protein C1 is involved in the autosomal dominant form
    Distal arthrogryposis type I (DA1) is a disorder characterised by congenital contractures of the hands and feet for which few genes have been identified. Here the authors describe a five-generation family with DA1 segregating as an autosomal dominant disorder with complete penetrance and identify mutations in the MYBPC1 gene. These findings reveal that the MYBPC1 is a novel gene responsible for DA1, though the mechanism of disease may differ from how some cardiac MYBPC3 mutations cause hypertrophic cardiomyopathy.
    Read the PubMed abstract

    To read more about "Digitotalar dysmorphism"

    Hum Mol Genet ; 1165-1173 ; 1 April 2010
    Isolated 17,20-lyase deficiency due to a cytochrome b5 mutation
    Isolated 17,20-lyase deficiency is a rare condition characterised by a deficient production of androgens resulting in 46,XY disorders of sex development (DSD) while the production of glucocorticoids is intact. Several missense mutations in the CYP17A1 gene are known to cause this condition. Cytochrome b(5) (CytB5) is an important factor in 17,20-lyase activity, probably by acting as an allosteric factor. The authors studied a 46,XY DSD patient with 17,20-lyase deficiency without missense mutation in the CYP17A1 gene and his parents and identified a CYB5 gene mutation leading to the formation of a premature stop codon. The parents were both heterozygous carriers of this mutation. These findings thus provide evidence for an alternative aetiology for this disorder.
    Read the PubMed abstract

    To read more about "46,XY disorder of sex development due to isolated 17, 20 lyase deficiency"

    J Clin Endocrinol Metab ; 994-999 ; March 2010
    Arthrogryposis-renal dysfunction-cholestasis syndrome: mutations in VIPAR at cause
    Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarised liver and kidney cells. Mutations in VPS33B account for most cases of ARC. The authors have identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VPS33B defects. VIPAR forms a functional complex with VPS33B that interacts with RAB11A.
    Read the PubMed abstract

    To read more about "Arthrogryposis - renal dysfunction - cholestasis"

    Nat Genet ; 303-312 ; April 2010

    Research in Action

    Fundamental Research
    Dyskeratosis congenita: telomere elongation in induced pluripotent stem cells from patients
    Patients with dyskeratosis congenita (DC), a disorder of telomere maintenance, suffer degeneration of multiple tissues. Patient-specific induced pluripotent stem (iPS) cells represent invaluable in vitro models for human degenerative disorders like DC. The authors investigated whether defects in telomerase function would limit derivation and maintenance of iPS cells from patients with DC. They show that reprogrammed DC cells overcome a critical limitation in telomerase RNA component (TERC) levels to restore telomere maintenance and self-renewal. They discovered that TERC upregulation is a feature of the pluripotent state, that several telomerase components are targeted by pluripotency-associated transcription factors, and that in autosomal dominant DC, transcriptional silencing accompanies a 3’ deletion at the TERC locus. These results demonstrate that reprogramming restores telomere elongation in DC cells despite genetic lesions affecting telomerase, and show that strategies to increase TERC expression may be therapeutically beneficial in DC patients.
    Read the PubMed abstract

    To read more about "Dyskeratosis congenita"

    Nature ; 292-296 ; 11 March 2010
    Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications of Rho GTPases activation
    Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome with neurocognitive deficits due to mutations of DHCR7 that impair the reduction of 7-dehydrocholesterol to cholesterol. To investigate the pathological processes underlying the neurocognitive deficits, the authors compared protein expression in Dhcr7(+/+) and Dhcr7(Delta3-5/Delta3-5) brain tissue. One of the proteins identified was cofilin-1, an actin depolymerizing factor which regulates neuronal dendrite and axon formation. Differential expression of cofilin-1 was due to increased phosphorylation. Phosphorylation of cofilin-1 is regulated by Rho GTPases through Rho-Rock-Limk-Cofilin-1 and Rac/Cdc42-Pak-Limk-Cofilin-1 pathways. Aberrant activation of Rho/Rac could have functional consequences for dendrite and axonal growth. Developmental abnormalities of neuronal process formation may contribute to the neurocognitive deficits found in SLOS and may represent a potential target for therapeutic intervention.
    Read the PubMed abstract

    To read more about "Smith-Lemli-Opitz syndrome"

    Hum Mol Genet ; 1347-1357 ; 1 April 2010
    Clinical Research
    Evans syndrome: identifying autoimmune lymphoproliferative syndrome in affected children
    Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of abnormal lymphocyte survival caused by dysregulation of the Fas apoptotic pathway. Clinical manifestations of ALPS include autoimmune cytopenias, organomegaly, and lymphadenopathy. These findings overlap with Evans syndrome (ES), defined by presence of at least 2 autoimmune cytopenias. The authors hypothesised a subset of patients with ES have ALPS and tested 45 children at 22 institutions, measuring peripheral blood double-negative T cells (DNTs) and Fas-mediated apoptosis. ALPS was diagnosed in 47% of patients tested. This is the largest published series describing children with ES and documents a high rate of ALPS among paediatric ES patients. These data suggest that children with ES should be screened for ALPS with DNTs.
    Read the PubMed abstract

    To read more about "Evans syndrome"
    To read more about "Autoimmune lymphoproliferative syndrome"

    Blood ; 2142-2145 ; 18 March 2010
    Myelodysplastic syndromes: aberrant immunophenotype of blasts can predict response to growth factor treatment
    Myelodysplastic syndromes (MDS) are a group of clonal disorders of the bone marrow characterised by peripheral cytopenias. Standard treatment in low- and intermediate-I-risk MDS is supportive therapy consisting of regular transfusions and growth factors, that is, erythropoietin (Epo) and granulocyte-colony-stimulating factor (G-CSF). Because flow cytometric analysis of MDS bone marrow samples can identify clinically relevant subgroups regarding transfusion dependency and disease progression, the authors addressed the question whether flow cytometry (FCM) was instrumental in predicting response. In 46 patients with low- and intermediate-I-risk MDS that were treated with Epo/G-CSF, low Epo level and low transfusion need were associated with response to Epo/G-CSF. FCM may add significantly to well-known predictive parameters in selecting MDS patients eligible for Epo/G-CSF treatment.
    Read the PubMed abstract

    To read more about "Myelodysplastic syndromes"

    Blood ; 1779-1784 ; 4 March 2010
    MASA syndrome: genotype-phenotype correlations - a guide for genetic counselling and mutation analysis
    The authors developed a comprehensive mutation detection system with a detection rate of almost 20% in unselected patients and up to 85% in a selected group of patients with MASA syndrome, an X-linked intellectual deficit syndrome characterised by spasticity of the lower limbs with hyperreflexia, aphasia and adductus thumbs (also known as L1 syndrome). A genotype-phenotype correlation was confirmed. The type of mutation affects the severity of the syndrome. Children with a truncating mutation were more likely to die before the age of 3 than those with a missense mutation.
    Read the PubMed abstract

    To read more about "MASA syndrome"

    J Med Genet ; 169-175 ; March 2010
    Gene Therapy
    Duchenne muscular dystrophy: dystrophin restoration mdx mice by ZM2 NP-AON complexes
    Potentially viable therapeutic approaches for Duchenne muscular dystrophy (DMD) are now within reach. In this study the authors show that PMMA/N-isopropil-acrylamide+ (NIPAM) nanoparticles (ZM2) bind and convey antisense oligoribonucleotides (AONs) very efficiently. Systemic injection of the ZM2-AON complex restored dystrophin protein synthesis in both skeletal and cardiac muscles of mdx mice, allowing protein localization in up to 40% of muscle fibres. The mdx exon 23 skipping level was up to 20% and dystrophin restoration was confirmed. Furthermore, dystrophin restoration also occurs in the smooth muscle cells of the dorsal skin arrector pili. In addition, the authors demonstrate herein the expression of other sarcolemma proteins such as alpha-, beta-, gamma- and delta-sarcoglycans in the human skin arrector pili smooth muscle, thereby showing the potential of this muscle as a biomarker for other muscular dystrophies currently or soon to be the object of clinical trials.
    Read the PubMed abstract

    To read more about "Duchenne and Becker muscular dystrophy"

    Gene Ther ; 432-438 ; March 2010
    Therapeutic Approaches
    Severe combined immunodeficiency: bone marrow-derived progenitor intrathymic transplantation provides long-term thymopoiesis
    The sustained differentiation of T cells in the thymus cannot be maintained by resident intrathymic (IT) precursors and requires that progenitors be replenished from the bone marrow (BM). In patients with severe combined immunodeficiency (SCID) treated by hematopoietic stem cell transplantation, late T-cell differentiation defects are thought to be due to an insufficient entry of donor BM progenitors into the thymus. The intravenous injection of BM progenitors into nonconditioned zeta-chain-associated protein kinase 70 (ZAP-70)-deficient mice with SCID supports short, but not long,-term thymopoiesis. The authors now show that the IT administration of these progenitors produces a significant level of donor-derived thymopoiesis for more than 6 months after transplantation. In contrast to physiologic thymopoiesis, long-term donor thymopoiesis was not due to the continued recruitment of progenitors from the BM. Rather, IT transplantation resulted in the unique generation of a large population of early c-Kit(high) donor precursors within the thymus. IT administration of BM progenitors results in the filling of an expanded precursor niche and may represent a strategy for enhancing T-cell differentiation in patients with SCID.
    Read the PubMed abstract

    To read more about "Severe combined immunodeficiency"

    Blood ; 1913-1920 ; 11 March 2010
    Crigler-Najjar syndrome: acceleration of the gastrointestinal transit by polyethylene glycol effective in Gunn rats
    Several conditions that delay gastrointestinal transit are associated with unconjugated hyperbilirubinaemia. The authors hypothesised that the gastrointestinal transit time is directly related to plasma unconjugated bilirubin (UCB) concentrations. Gunn rats received, for various time periods, oral polyethylene glycol (PEG) with or without conventional phototherapy treatment to accelerate, or oral loperamide to delay gastrointestinal transit. Gastrointestinal transit time and plasma UCB concentrations are linearly related in Gunn rats. This relationship can be exploited by pharmacologically accelerating the gastrointestinal transit, which increases transmucosal UCB diffusion and thereby effectively treats unconjugated hyperbilirubinaemia (also known as Crigler-Najjar syndrome).
    Read the PubMed abstract

    To read more about "Crigler-Najjar syndrome"

    Gut ; 373-380 ; March 2010

    Patient Management and Therapy

    Progressive multifocal leukoencephalopathy associated with Natalizumab in multiple sclerosis patients: lessons from 28 cases
    Treatment of multiple sclerosis with natalizumab is complicated by rare occurrence of progressive multifocal leukoencephalopathy (PML). Between July, 2006, and November, 2009, there were 28 cases of confirmed PML in patients with multiple sclerosis treated with natalizumab. The risk of PML increases with duration of exposure to natalizumab over the first 3 years of treatment. No new cases occurred during the first two years of natalizumab marketing but, by the end of November, 2009, 28 cases had been confirmed, of which eight were fatal. The median treatment duration to onset of symptoms was 25 months (range 6-80 months). The presenting symptoms most commonly included changes in cognition, personality, and motor performance, but several cases had seizures as the first clinical event. Although PML has developed in patients without any previous use of disease-modifying therapies for multiple sclerosis, previous therapy with immunosuppressants might increase risk. Clinical diagnosis by use of MRI and detection of JC virus in the CSF was established in all but one case. Management of PML has routinely used plasma exchange (PLEX) or immunoabsorption to hasten clearance of natalizumab and shorten the period in which natalizumab remains active (usually several months). Predictive markers for patients at risk for PML must be sought. It is crucial to monitor the risk incurred during use of natalizumab beyond 3 years.
    Read the PubMed abstract

    To read more about "Progressive multifocal leukoencephalopathy"

    Lancet Neurol ; 438-446 ; April 2010

    Orphan Drugs
    Report detailing products currently under development for children in the USA includes several rare indications
    The Pharmaceutical Research and Manufacturers of America (PhRMA) represents leading biopharmaceutical research companies in the USA. The PhRMA website asserts that its members invested some $46 billion in 2009 in research and development, while industry-wide, “investment reached a record $65.3 billion” for the year. The PhRMA has released a new report that lists the products currently moving along the developmental pipeline in the USA for paediatric diseases and conditions. Rare genetic conditions are well represented. Of the 234 products the study identified, 36 are for genetic disorders – including cystic fibrosis, fragile X syndrome, Fabry disease, Duchenne/Becker muscular dystrophy, haemophilia A, mucopolysaccharidosis II, hypophosphatasia, Gaucher disease, primary immunodeficiency diseases, epidermolyis bullosa, and others. Of these, at least 20 have orphan designations. The paediatric cancers (all rare) are also represented with 25 products presently under development. Certain rare neurological, musculoskeletal, and other conditions also have products in development.
    Consult the report


    News from the Patients' Associations
    Birdshot chorioretinopathy – bringing together patients and specialists

    A unique partnership has been established between a patient support group, the Birdshot Uveitis Society (BUS), and the Moorfields Eye Hospital in London, England. The two entities are working together to develop a registry for the rare disease Birdshot chorioretinopathy (Birdshot); establish a research programme; and run an annual Patient Day. Birdshot is an auto-immune, chronic, bilateral, potentially blinding posterior uveitis that affects adults of all ages. There is emerging evidence that it may affect children too. It is a poorly understood, often undiagnosed condition and no database or registry presently exists for Birdshot. A survey undertaken by patient experts, however, suggests there are at least 400 people in the UK with this disease. In November 2009, a website and patient group was launched by patient experts Rea Mattocks and Annie Folkard, supported by Miss Narciss Okhravi of Moorfields Eye Hospital, and other healthcare professionals. To date, 80 birdshot sufferers and healthcare professionals from the UK and abroad (including other European countries, Australia, South Africa and the USA) have registered and now receive information and support. BUS and Moorfields have also set up an annual Patient Day for which initial funding has been obtained permitting the event to be offered free of charge to attendees. This day will enable healthcare professionals to learn from patients; enable patients to network with each other; provide information on latest treatments and protocols; and identify a cohort of patients for further research and other collaboration projects. Registration is now open for the first Patient Day, funded by the National Institute for Health Research (part of the NHS), being held in London on Saturday 11 September 2010. This event, which will include professional and patient collaboration, is open to any international participants who can arrange their own travel and lodging. Advance registration is required. For further details or to send email


    Courses & Educational Initiatives

    23rd Course in Medical Genetics
    Date: 23-28 May, 2010
    Venue: EuroMediterranean University Centre of Ronzano, Bologna, Italy

    A week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today, providing an overall view of the clinical developments taking place in the major application fields of modern genetics in different medical specialties. The topics covered in the present edition are: Introduction to Medical Genetics and Genome Analysis, Cytogenetics and Clinical Genetics, New Approaches in Medical Genetics, Complex Genetic Disorders and Neurogenetics, Therapy, Technology, Epigenetics and Ethical Issues.
    For further details

    Update in Neuromuscular Disorders
    Date: 24–27 May 2010
    Venue: Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, London, UK

    This course, now in its third year, is the result of the merging of two popular annual courses with an established international reputation. Amongst the many topics covered are diagnostic approaches in muscular dystrophy; distal myopathies; limb girdle muscular dystrophies; long-term ventilation in DMD; childhood CMT; Pompe disease; congenital myopathies; congenital myasthenia; pharmacological treatment of muscular dystrophies; genetic therapy in DMD; and much more.
    For further details

    TREAT-NMD Clinical Trials in Neuromuscular Disorders and Other Rare Diseases Workshop
    Date: 24-26 June 2010
    Venue: The Clinical Trials Coordination Centre, Freiburg, Germany

    One of the most common reasons for failed trials is poor protocol design. As neuromuscular disorders are very rare, clinical trials have to be multi-centre or even multinational to include enough patients. As a result, the study design for these trials is usually complex. Also, academic trials have come to face a changed regulatory environment following the implementation of the EU Clinical Trials Directive 2001/20/EC. This TREAT-NMD workshop will explore these issues.
    For further details

    4th Inborn Errors in Neonatology Course
    Date: 21-23 October 2010
    Venue: Dubrovnik, Croatia

    This practical course is run by an experienced team of paediatricians, neonatologists, molecular biologists and biochemists specialised in metabolic medicine, who already contributed substantially to the understanding of metabolic disorders in childhood. The two and a half days course includes lectures and seminars for 35 participants. The course is aimed at paediatricians with about 2-3 years clinical experience in the neonatology field.

    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases. .
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details

    Institute of Myology Summer Programme
    The Institute of Myology offers the possibility to train in myology via a condensed 10-day course organised in Paris, France. The course is open to foreign students with special attention given to those posted in the French Overseas Territories and those working in developing countries. Many aspects of myology are addressed during the course, from basic science to cutting-edge therapies, and clinical and genetic approaches to muscle diseases, taught via a series of lectures and interactive workshops in English. A certificate of attendance is issued upon completion of the Summer School.
    For further details


    What's on Where?

    XI International Child Neurology Conference
    Date: 2-7 May 2010
    Venue: Cairo, Egypt

    Featuring a rich variety of topics including epilepsy, new anticonvulsants, neurogenetics, CNS infection, nutritional disorders of CNS, demyelinating diseases and leukodystrophies, cerebellar ataxia, advances in spinal muscular atrophy, myasthenia gravis and myasthenic syndromes, neurocutaneous disorders, and much more.
    For further details

    European Medicines Agency Conference: 10 years of the Orphan Regulation in Europe
    Date: 3-4 May 2010
    Venue: London, UK

    The aim of this conference is to bring together patients, researchers, industry and regulators to discuss and share experiences concerning the development of orphan medicinal products. Plenary sessions, workshops, and discussions will take place.
    For further details

    International Workshop on Consanguinity
    Date: 3-7 May 2010
    Venue: Geneva, Switzerland

    The Department of Genetic Medicine and Development at the University of Geneva in collaboration with ECOGENE21 , the International Society of Community Genetics and Genomics, World Health Organization Department of Reproductive Health and Research, and the European Genetics Foundation, is organising a workshop to increase awareness about the impact of consanguinity on health, to establish basic counselling recommendations on issues involving close kin unions and to promote research into the impact of consanguinity on reproductive behaviour, morbidity, and mortality, with particular focus on the association of consanguinity with non-communicable (complex) disorders and quantitative traits.
    For further details

    EHA-ESH Scientific Workshop: T-cell Acute Lymphoblastic Leukemia Meets Normal T-Cell Development
    Date: 7-9 May 2010
    Venue: Mandelieu, France

    Sessions include genetics, epigenomics, and expression analysis in T-cell acute lymphoblastic leukaemia.
    For further details

    European Medicines Agency Workshop on Stem Cell-Based Therapies
    Date: 10 May 2010
    Venue: London, England

    Bring together regulatory, academic, and industry scientists to share their experiences in the development of stem cell-based cell therapies, within the context of Advanced Therapy Medicinal Products (ATMPs), this workshop will focus on scientific requirements specific to stem cell-based ATMPs. By fostering global dialogue in this innovative field of cell therapy, the EMA intends to stimulate the discussion on the requirements and methods considered acceptable for stem cell-based therapies and to support their development.
    For further details

    3rd Human Variome Project Meeting: Implementation and Integration
    Date: 10-14 May 2010
    Venue: Paris, France

    This third Human Variome Project Meeting will discuss "Implementation and Integration" with the aim of determining how the recommendations and actions from the first meetings can be best implemented in a global collaborative context to prepare the systems necessary to routinely and systematically gather the deluge of variations in genes causing disease. Topics include clinical data collection, genetic data collection, distributed databasing (country and gene specific), country specific collection, key pilot/current projects, central databasing, transfer to central databases, incentives for databasing, ethics of databasing and funding.
    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.
    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

    Fourth Conference on Translational Research in Paediatric Rheumatology
    Date: 27-30 May 2010
    Venue: Genoa, Italy

    “Biological Agents and Emerging Treatments in the Management of Rheumatic Diseases” will address the treatment of both adult and childhood rheumatic diseases with the purpose of reviewing and discussing the progress that has been achieved thus far, the unmet needs that are still faced, and the potential new treatments that the future holds in store. A final session will be devoted to strategies to improve methodologies of translational research on and clinical development in common, as well as rare, forms of rheumatic disorders.
    For further details

    ISDN 2010: 18th Biennial Meeting of the International Society for Developmental Neuroscience
    Date: 6-9 June 2010
    Venue: Estoril, Portugal

    Will feature the most recent advances in fundamental and disease-focused developmental neuroscience. Fragile X, Rett Syndrome, ciliopathy disorders, Meckel-Gruber syndrome are amongst the rare conditions included in the programme.
    For further details

    Giving Patients a Voice: Genetic Interest Group Conference 2010
    Date: 8 June 2010
    Venue: London, England

    The 2010 GIG conference will focus on important developments in patient partnership in healthcare. The afternoon will be dedicated to Rare Disease UK and will be focused on gaining views on how services for patients and families with rare diseases can be improved.
    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. With various satellite symposia available including the one-day event taking place on 11 June entitled "Changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe".
    For further details

    International Conference on Neuromuscular Diseases: Care and Clinical Trials
    Date: 17–19 June 2010
    Venue: Sao Paulo, Brazil

    This exciting meeting is aimed at healthcare professionals with an interest in neuromuscular disorders (with a special focus on DMD and SMA) and patients and families. Two days of lectures from a strong panel of international and Brazilian speakers will be followed by a dedicated family day with research updates for patients and information on physiotherapy and care.
    For further details

    Advances in Neuroblastoma Research 2010
    Date: 21-24 June 2010
    Venue: Stockholm, Sweden

    Workshops will address hypoxia, tumour stem cells and vascularization; micro-RNA and neuroblastoma; genome-wide sequencing; novel therapies and more. An update course is also offered.
    For further details

    11th International Symposium on Mucopolysaccharide & Related Diseases
    Date: 23-26 June 2010
    Venue: Adelaide, South Australia

    This year’s theme is "Translating Research into Clinical Reality" with a focus on the areas of newborn screening, prognostics, understanding pathology and therapeutic options.
    For further details

    6th Alstrom Syndrome Family Conference, Medical Research Clinic and Scientific Symposium
    Date: 24-28 June 2010
    Venue: Helen, Georgia, USA

    Bringing together patients and professionals to further knowledge of Alstrom syndrome and its treatment.
    For further details

    16th Retina International World Congress
    Date: 26- 27 June 2010
    Venue: Stresa, Italy

    This year’s theme is “Change our vision – Bridging the gap from the lab to the patients”. Sessions will cover genetic and clinical aspects of inherited retinal degenerations; diagnosing young children; gene therapy; and treatment perspectives.
    For further details

    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

    Fifth Eastern European Conference for Rare Diseases & Orphan Drugs and First Russian Conference for Rare Diseases
    Date: 2-4 July 2010
    Venue: Saint Petersburg, Russia

    With sessions on Rare Diseases in the Focus of Personalized Medicine; Best Practice in Field of Rare Diseases and Personalized Medicine; Rare Diseases – Future, Perspectives, Challenges of Health Care; Modern capabilities in diagnostics and treatment of rare diseases; and much more. Deadline for abstract submission: 1 May 2010.
    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. Deadline for abstract submissions: 4 May 2010.
    For further details

    17th International Paediatric Colorectal Club Meeting
    Date: 17-19 July 2010
    Venue: Padova, Italy

    Topics include anomalies of the bowel, anorectal malformation, Hirschsprung disease and urological aspects.
    For further details

    2th International Congress on Neuromuscular Diseases
    Date: 17-22 July 2010
    Venue: Naples, Italy

    Offering a variety of sessions including paediatric neuromuscular diseases, genetic testing and diagnosis, pathogenic mechanisms of inherited neuropathies, novel therapeutic targets at the neuromuscular junction, motor neuron diseases, and much more.
    For further details

    International All Star Vasculitis Symposium
    Date: 30 July-1 August 2010
    Venue: Long Beach, CA, USA

    Topics will cover all the vasculitides and will concentrate on the advances in medical treatments, research and quality of life issues for patients.
    For further details

    FDA Orphan Drug Workshop
    Date: 3-4 August 2010
    Venue: Minnesota, USA

    Over two days, FDA staff from the Office of Orphan Products Development (OOPD) will provide regulatory assistance to sponsors to find regulatory paths forward. Most of the time will be spent in application writing and individual one-on-one guidance sessions to develop the strongest possible orphan designation application to be submitted at the close of the workshop.
    For further details

    26th International Congress of Pediatrics
    Date: 4-9 August 2010
    Venue: Johannesburg, South Africa

    Amongst the general programme are symposia on primary immunodeficiency diseases in resource-limited settings, appropriate genetic testing, and a workshop on approaches to the dysmorphic child.
    For further details

    2nd Congress of the European Society for Paediatric Anaesthesiology
    Date: 2-4 September 2010
    Venue: Berlin, Germany

    Amongst the programme of this congress will be a session entitled “Rare diseases: a common problem!” featuring the anaesthetic management of a child with a rare disease; approaches to rare diseases at the national and European level; and the OrphanAnaesthesia project. Deadline for abstract submission: 18 May 2010.
    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

    Second AnEUploidy Workshop
    Date: 17-19 September 2010
    Venue: Split, Croatia

    AnEUploidy is the acronym of an Integrated Project (IP) funded by the European Commission within its Sixth Framework Programme. This project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. This second workshop will allow colleagues to share views, advancements, and ideas.
    For further details

    2nd European Rett Syndrome Conference
    Date: 7-10 October 2010
    Venue: Edinburgh, Scotland

    Sessions include clinical and molecular update on MECP2 and Rett Syndrome; non coding RNAs & brain development; lessons from other diseases and other models; treatments and trials; outcome measures, international collaborations; and current perspectives and next steps.
    For further details

    15th International Congress of World Muscle Society
    Date: 12-16 October 2010
    Venue: Kumamoto, Japan

    The main topics to be addressed include new therapeutic targets for neuromuscular disorders; congenital muscular dystrophies (celebrating the 50th anniversary of Fukuyama congenital muscular dystrophy); and distal myopathies and protein aggregation myopathies.
    For further details

    26th Annual Meeting of the Histiocyte Society
    Date: 18–20 October 2010
    Venue: Boston, Massachusetts USA

    This year’s scientific programme will feature presentations by several experienced researchers regarding a variety of perspectives on the histiocytic disorders. Deadline for abstract submissions: 17 May 2010.
    For further details


    Press & Publications

    Exploring the relationship between the immune and nervous systems
    The new text Inflammatory Diseases of the Central Nervous System explores the interactions between the immune and nervous systems that are involved in many disease processes - both rare and common. This book defines the key cellular players in mounting an inflammatory response and highlights critical factors in the target organ that influence the nature of that response. There is also a discussion on the modulation of inflammation in order to enhance neurological regeneration.
    Authors: T. Kilpatrick, R. Ransohoff, and S. Wesselingh -Eds.
    Publisher: Cambridge University Press, 30 November, 2009
    ISBN: 978-0521888745

    A paediatric geneticist shares the human side of medicine
    Genetic Rounds – A Doctor’s Encounters in the Field that Revolutionized Medicine is a new book by paediatric geneticist Robert Marion that takes the reader on a fascinating, frequently moving account of the day-to-day life of the clinical geneticist. From the cases that defy diagnosis, to the ones that are heartbreakingly obvious (to the experienced eye), Dr. Marion engages the reader from the very first pages and reveals the complexity of working in a field that is constantly evolving. Indeed, many of his episodes finish with a postscript that brings the reader up to date with the developments and/or treatments that have since been discovered for certain diseases. Dr. Marion does not shy away from revealing the fallibilities of genetic medicine – and its practitioners – while also celebrating its capacity to reduce suffering. Here then is a book that generously informs the reader of the human side of medicine.
    Author: Robert Marion
    Publisher: Kaplan Publishing, 2009
    ISBN: 978-1-60714-460-1


    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the Rare Diseases Task Force
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