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Fifth meeting of the EUCERD moves rare disease actions forward in key areas

The fifth meeting of the European Union Committee of Experts on Rare Diseases (EUCERD) took place in Luxembourg from 20-21 June 2012 with many important issues on the agenda. The Clinical Added Value of Orphan Medicinal Products - Information Flow (CAVOMP-IF) took centre stage with unanimous agreement to adopt the EUCERD recommendations by written procedure following minor modifications that arose from discussion during the meeting. This latest EUCERD Recommendation is the result of several years of effort and input from key stakeholders from the EUCERD, the European Medicines Agency, the European Commission and the EUnetHTA. The CAVOMP Information Flow is a process for the exchange of knowledge between Member States and European Authorities to help improve informed decisions based on the clinical added value of orphan medicinal products. The EUCERD recommendation highlights the fact that the life cycle of an orphan medicinal product is a continuum of evidence generation, necessary to assessors and decision makers, as well as being necessary to improve the good use of medicines. Other important issues were addressed, including the Cross-Border Healthcare directive and the European Reference Networks (ERNs). The EUCERD is developing recommendations for the ERNs, to be finalised later this year. Other key topics included the EUCERD Joint Action work plan, an update of the situation for rare diseases in international nomenclatures, the revision of the World Health Organization’s International Classification of Diseases, and the upcoming workshop of cross-referencing terminologies. There was also discussion on the potential for sharing knowledge on newborn screening practices, the evolution of the International Rare Disease Research Consortium (IRDiRC), and the European Commission’s Health for Growth Programme (2014-2020). A report from the EUCERD’s fifth meeting will be forthcoming.

Learn more about the EUCERD


National & International Policy Developments
Ireland opens consultation process for developing a national rare disease plan
In Ireland, the Health Service Executive National Advocacy Unit is supporting the Department of Health in its initiative to develop a national rare disease plan. The patient-centred policy framework will encompass actions targeting the prevention, detection and treatment of rare diseases based on the principles of quality care and equity. The policy will operate over a five-year period and define priority actions, subject to resource availability, in the areas of centres of expertise, orphan drugs and technologies, research and information and patient empowerment and support. A National Steering Group, established by the Health Ministry, is inviting stakeholders to participate in a consultation process designed to gather views concerning the plan's various components.
Learn more

New rare disease umbrella group in Austria involved in drafting of a national plan

In December 2011, Pro Rare Austria, an umbrella group for rare disease patient organisations was established. Instigated by Dr. Rainer Riedl, spokesman for epidermolysis bullosa patient organisation DEBRA Austria, Pro Rare Austria gathers Austria’s individual rare disease patient associations into a coalition that can coordinate efforts to work together on behalf of rare disease patients in the country. In the short time since its formation, the Pro Rare Austria team has already organised events for Rare Disease Day 2012 in Vienna and participated in other rare disease events.

Involvement in the drafting of a national plan/National Coordination Centre for Rare Diseases
Delegates of Pro Rare and other Austrian patient organisation groups have been invited to join the newly established Expert Committee for Rare Diseases. Following the European Council Recommendation on an action in the field of rare diseases, which encourages all EU Member States to implement a national plan for rare diseases, the Austrian Health Advisory Board of the Austrian Ministry of Health established a subcommittee for rare diseases in May 2009, consisting of 17 members from 13 different organisations or institutions. Coordinated by the Austrian Orphanet team, this subcommittee has laid the foundation for a national plan of action for rare diseases. To support this, a National Coordination Centre for Rare Diseases, the Nationale Koordinationsstelle für Seltene Erkrankungen (NKSE), was established as a first step in the development of a national plan. The founding of the NKSE included sustained funding for Orphanet as the national information system for rare diseases. Members of the subcommittee for rare diseases include the Expert Committee on Rare Diseases in addition to a strategic platform made up of delegates from the Ministry of Health, academic experts and representatives from Austrian social security institutions. Amongst the activities of the NKSE is a role as a driving force in drawing up the national plan of action; raising awareness among professionals and patients on the topic of rare diseases; performing a large-scale needs assessment survey involving academics, stakeholders and – for the first time in Austria – patients, and draft a report (planned to be published in the summer of 2012); draft eligibility criteria for the establishment of Centres of Expertise – based on the EUCERD recommendations – and discuss them with Austrian stakeholders; serve as a communication hub between actors in the field; and function as a focal point for European activities in the field of rare diseases.
Learn more

Other European news
CIBERER and the Spanish National Center for Genome Analysis boost genomic research on rare diseases
In Spain, the Centre for Biomedical Network Research on Rare Diseases (CIBERER) and the National Center for Genome Analysis are collaborating in the massive sequencing and analysis of 116 exomes corresponding to 24 rare diseases and/or groups of pathologies, including mitochondrial, hereditary metabolic, neuromuscular, and sensorineural hearing loss disorders, in a bid to uncover the genetic cause of the conditions. Identification of the genetic basis for these diseases could open new diagnostic pathways. It is anticipated that the study will lead to the identification of the genetic defect in at least 50% of the cases studied.
Learn more

Two new publications from France’s National Cancer Institute describe activities to identify and treat hereditary cancers

In France, the National Cancer Institute (INCa) coordinates the country’s effort to prevent, identify and treat cancer. INCa’s overarching objectives include the development of expertise in the field of cancer, and the provision of scientific planning, evaluation and funding for projects. INCa has published two new reports on genetic testing and treatment for hereditary cancers. The first report summarises the 2010 activities of France’s oncogenetic platforms. The second report focuses on molecular genetic testing for targeted therapies in France in 2011.

In 2006 a programme supporting the structuring of molecular genetics, including the development of 28 hospital-based platforms, was established in France. Amongst the services these platforms perform is molecular testing to identify genetic mutations in tumours, the identification of biomarkers for potential targeted therapies, diagnosis refinement, and prognosis establishment.

The INCa reports show that the platforms’ turnover is robust and growing, especially in the areas of haematology and solid tumours. Some 144,000 patients underwent molecular testing in 2010, versus 102,000 in 2009. The platforms have a catalogue of 60 tests available, as well as 14 determinants for access to targeted therapies already established or under development. Few new molecular tests were added in 2010, with the exception of IDH1 and IDH2 mutations in gliomas. Thus, the increased activity involves molecular tests already available in 2009. The second report, available in English language, on molecular genetic testing for targeted multidisciplinary treatment, summarises the 2011 activities supported by INCa to bring targeted therapies to more patients. Targeted therapies are treatments tailored to the particular characteristics of the tumour patient. Molecular characterisation of the tumour is, as such, decisive in determining a therapeutic strategy. In 2010, 61,000 patients underwent testing and were offered a tailored treatment strategy, up from 42,874 patients in 2009 and 31,965 in 2008. Both of the new INCa documents report on activities stemming from specific measures of France’s Cancer Plan (2009-2013) that seek to ensure equal access to treatment, and develop molecular genetics platforms for hereditary cancers.
For more information (in French language)

Other International News
Article in popular Indian newspaper calls for a collaborative stakeholder effort to address rare disease issues
An Opinion piece published in the Hindu, a widely-read English-language Indian newspaper makes a plea on behalf of the country’s rare disease patients, of whom there could be more than 70 million, based on current global estimates. The article demonstrates a burgeoning awareness for rare diseases in the populous country. Acknowledging that more demanding health issues render the government’s attention to rare diseases virtually non-existent, the author calls on scientists, health professionals, the pharmaceutical industry and non-governmental organisations, including disease support groups, to pool resources in order to raise awareness of the struggles rare disease patients and their families face in India. While Rare Disease Day, celebrated the last day in February, has succeeded in bringing attention to the rare disease cause in urban areas, it has made no impact in rural areas. According to the author of the Hindu article, who is the founder of the non-profit Foundation for Research on Rare Diseases and Disorders and its knowledge-based resource Rare Diseases India (learn more), researchers have begun concentrating on one village, on an experimental basis, to collect information on suspected rare disease patients, most of whom do not have a diagnosis for their conditions, with the aim of gathering patient information and assisting patients to obtain diagnosis and treatment.
Guidance Documents and Recommendations
Juvenile dermatomyositis: consensus treatment plans for moderate forms established with the Childhood Arthritis and Rheumatology Research Alliance (CARRA)
View the PubMed abstract
To read more about "Juvenile dermatomyositis"

Arthritis Care Res (Hoboken) ; 546-53 ; April 2012
Hepatocellular carcinoma: EASL-EORTC clinical practice guidelines now available
Developed via a joint collaboration between the European Association for the Study of the Liver (EASL) and the European Organization for Research and Treatment of Cancer (EORTC), the EASL–EORTC Clinical Practice Guidelines provide common measures for the management of hepatocellular carcinoma (HCC) and define the use of surveillance, diagnosis, and therapeutic strategies recommended for patients.
Consult the guidelines

To read more about "Hepatocellular carcinoma"

J Hepatol ; 908-43 ; April 2012
MUTYH-associated polyposis: indications for genetic testing and clinical management recommendations
The conclusions of the INCa (the French National Cancer Institute) experts’ report on MUTYH-associated polyposis were recently published in the journal Familial Cancer. They include indications for genetic testing and recommendations for clinical management.
Read the PubMed abstract

To read more about "MUTYH-related attenuated familial adenomatous polyposis"

Fibrous dysplasia of bone: best clinical practices
The Orphanet Journal of Rare Diseases has recently published the proceedings of the International Meeting on Fibrous Dysplasia/McCune-Albright Syndrome and Cherubism: Best Clinical Practice and Future Research (Bethesda, USA, 3-5 October 2010).
Consult the papers

To read more about "Fibrous dysplasia of bone"

Orphanet Journal of Rare Diseases ; 7(Suppl 1):S1;S2;S3 ; 24 May 2012
Cherubism: best clinical practices
Recommendations for best clinical practices for cherubism were produced during the International Meeting on Fibrous Dysplasia/McCune-Albright Syndrome and Cherubism: Best Clinical Practice and Future Research (Bethesda, USA, 3-5 October 2010), and were recently published in the Orphanet Journal of Rare Diseases.
Consult the recommendations

To read more about "Cherubism"

Orphanet Journal of Rare Diseases ; 7(Suppl 1):S6 ; 24 May 2012
Urea cycle disorders: suggested guidelines for diagnosis and management
The Orphanet Journal of Rare Diseases has published guidelines for the diagnosis and management of urea cycle disorders.
Consult the guidelines

To read more about "Disorder of urea cycle metabolism and inherited hyperammonemia"

Orphanet Journal of Rare Diseases ; 7(1):32 ; 29 May 2012

Orphanet News
Orphanet Report Series on Prevalence updated in all languages
The Orphanet Report Series entitled Prevalence of Rare Diseases: Bibliographic Data offers prevalence data for over 2000 rare diseases, organised in two formats: in alphabetical order and by decreasing prevalence. The prevalence report has recently been brought up to date and is available in English, French, German, Italian, Portuguese, and Spanish languages. In the latest version, a column showing the Orphanet (ORPHA) number for each disease has been added to encourage the use of this nomenclature.
Consult the Orphanet Prevalence report of rare diseases listed in alphabetical order
Consult the Orphanet Prevalence report listed by decreasing prevalence

Two new rare disease emergency guidelines available in Spanish language
Orphanet provides rare disease emergency care guidelines to be distributed to emergency and intensive care hospital units and also made available on the Orphanet website. New guidelines are now available in Spanish, translated via funding from Shire AG, for:
Migraña hemipléjica (hemiplegic migraine)
Neutropenia constitucional grave (severe constitutional neutropenia)


New Syndromes

A novel type of keratinocytic nevus named PENS and that may be associated with neurologic troubles in a syndromic form
An article published in 2011 describes a novel type of keratinocytic nevus found in five patients presenting since birth with 1 to 11 hyperkeratotic papules 1 to 7 mm in size, with a rough, flat surface, and affecting several areas of the skin. Histopathological findings are hyperkeratosis, acanthosis with rectangular rete ridges, and a perfectly well-delineated skyline basal cell layer. Thus the authors suggest the name ‘‘papular epidermal nevus with skyline basal cell layer’’ (PENS) for this disease. This denomination is taken up in an article published in 2012 describing six children, four unrelated and two siblings, with identical skin lesions manifesting as a few to eighteen keratotic papules and plaques with a color varying from white to yellowish, round or of an irregulary polycyclic shape, with an average diameter of 1 cm. They appear congenitally or soon after birth, randomly distributed on the trunk and the proximal part of the limbs. Histopathological studies exhibit acanthokeratosis and skyline arrangement of the basal cell layer. However these authors prefer to talk of PENS syndrome because, during the first year of life, five of their patients also developed neurologic signs and symptoms manifesting as mild psychomotor delay and epilepsy with a good prognosis. The authors of the first article did not identify mutations in the hotspot loci of FGFR3 and PIK3CA. In the cases mentioned in the second article, according to the authors, the two siblings suggest an underlying mutation but sporadic cases seem to be more numerous.
View the PubMed abstracts

J Am Acad Dermatol ; 888-892 ; May 2011
Dermatology ; 24-30 ; May 2012
Intellectual disability, developmental delay, and autistic features associated with microduplication 2q23.1
The authors report on two patients presenting with variable degrees of developmental delay, hypotonia, intellectual disability, autistic features, and, in one case, aggressive behavior. They carry duplications of chromosome region 2q23.1-2q23.2 known to be associated with neurodevelopmental delay when deleted. This genomic region includes the MBD5 gene involved in epigenetic regulation and the only gene of the region 2q23.1 previously identified as deleted in a case of intellectual disability. These findings suggest that brain development and cognitive function may be disturbed by an overexpression of one or more genes located in this chromosomal region.
View the PubMed abstract

Eur J Hum Genet ; 398-403 ; April 2012
A new lysosomal storage disorder has the morphological anomalies of Morquio syndrome but without any enzymatic defect
Two brothers suffering many clinical and radiological features similar to Morquio syndromes are described by the authors. They have short stature with short trunk, barrel chest, pectus carinatum, severe kyphoscoliosis, micromelia with rhizomelic shortening, short hands and feet with metatarsus adductus, and excessive laxity of the small joints. One of them also presents with learning difficulties with borderline intelligence quotient. Although those morphological anomalies suggest a lysosomal storage disease, no enzymatic defect have been identified, in particular no N-acetylgalactosamine-6-sulfate sulfatase or β-D-galactosidase deficiency, excluding the two forms of Morquio disease. However abnormal inclusions found in eosinophils incite the authors to think that these children are affected by an autosomal recessive or X-linked lysosomal storage disorder of unknown origin with a specific expression in hematologic and cartilaginous tissues, and perhaps in the brain.
View the PubMed abstract

Eur J Med Genet ; 157-162 ; March 2012
High bone mineral density osteogenesis imperfecta due to mutations affecting collagen maturation
Two articles, published in 2011 and 2012, describe a new phenotype of osteogenesis imperfecta found in two unrelated children and in two siblings of a consanguineous family presenting with a history of multiple recurrent bone fractures and manifesting high bone mineral density. Because the two children described in the 2011 publication have mutations affecting the type I procollagen C-propeptide cleavage site, the authors hypothesise that their C-propeptides are retained on the fibril surface long enough to induce excess of mineralization and modification of the collagen fibril structure provoking bone fragility. A mutation located within the BMP1 (Bone morphogenetic protein) signal peptide has been found in the two siblings mentioned in the second publication and the investigations led by the authors demonstrate a critical role of this gene in mature collagen generation through its function in proteolytic processing of the procollagen I C-propeptide.
View the PubMed abstracts

Hum Mutat ; 598-609 ; June 2011
Am J Hum Genet ; 661-74 ; 6 April 2012
A gastric polyposis syndrome restricted to the proximal stomach where it can progress to dysplasia and gastric adenocarcinoma
Examination of members of three families allowed the authors to define a gastric polyposis syndrome, namely gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), whose key clinical features are a polyposis restricted to the oxyntic mucosa of the gastric body and fundus with occasional hyperplastic and adenomatous polyps, sparing of the gastric antrum, and a significant risk for developing intestinal-type gastric adenocarcinoma. The disease is inherited in an autosomal dominant pattern. As for its origin the authors hesitate between an abnormality of gastric acid homeostasis or an inherent anomaly of growth and differentiation.
View the PubMed abstract

Gut ; 774-9 ; May 2012
Congenital nephrotic syndrome, interstitial lung disease and epidermolysis bullosa in three children with integrin α3 mutations
The authors observed three infants presenting with the same phenotype consisting of congenital nephrotic syndrome, interstitial lung disease and epidermolysis bullosa. Skin fragility is mild whereas the renal and respiratory involvement is severe and life-threatening. Homozygous mutations in the integrin α3 are present in all cases and the ensuing disruption of basement membranes that compromises barrier functions in lung, kidney and skin.
View the PubMed abstract

NEJM ; 1508-14 ; 19 April 2012

New Genes

Autosomal dominant limb-girdle muscular dystrophy: mutations of the cytoplasmic isoform of the co-chaperone DNAJB6 induce proteins aggregation in muscle
View the PubMed abstracts
Ann Neurol ; 407-416 ; March 2011
Nat Genet ; 450-455 ; April 2012
Baraitser-Winter syndrome is the predominant phenotype associated with mutations in ACTB and ACTG1 confirming the role of actin in lissencephaly
View the PubMed abstract
To read more about "Iris coloboma with ptosis - intellectual deficit"

Nat Genet ; 440-444 ; April 2012
Bone sarcoma: BCOR-CCNB3 gene fusion defines a new subtype and highlights mechanisms of oncogenesis for other forms
View the PubMed abstract
To read more about "Bone sarcoma"

Nat Genet ; 461-466 ; April 2012
Primary ciliary dyskinesia : loss-of-function mutations of DNAAF3 disrupt assembly of dynein arms and ciliary motility
View the PubMed abstract
To read more about "Primary ciliary dyskinesia"

Nat Genet ; 381-389 ; April 2012
TAR syndrome is due to a protein Y14 deficiency induced by a compound inheritance associating a null allele and a low frequency-regulatory copy of RBM8A
View the PubMed abstract
To read more about "Thrombocytopenia - absent radius"

Nat Genet ; 435-439 ; April 2012
Nicolaides-Baraitser syndrome: SMARCA2 mutations disrupt ATPase activity of a chromatin remodeling complex
View the PubMed abstract
To read more about "Intellectual deficit - sparse hair - brachydactyly"

Nat Genet ; 445-449 ; April 2012
Ravine syndrome: mutation in a primate-conserved retrotransposon induces neuronal death by reducing expression of a noncoding RNA
View the PubMed abstract
To read more about "RAVINE syndrome"

PNAS ; 4980-4985 ; 27 March 2012
Joubert syndrome: C5orf42 mutations explain a large portion of French Canadian affected individuals
View the PubMed abstract
To read more about "Joubert syndrome"

Am J Hum Genet ; 693-700 ; 6 April 2012
Amelo-cerebro-hypohidrotic syndrome: loss-of-function mutations of ROGDI have adverse effects when homozygous or compound heterozygous
View the PubMed abstracts
To read more about "Amelo-cerebro-hypohidrotic syndrome"

Am J Hum Genet ; 701-7; 708-14 ; 6 April 2012
Diaphyseal medullary stenosis-bone malignancy: mutations in a retroviral-derived exon of MTAP suggest that this gene can act as a tumor suppressor
View the PubMed abstract
To read more about "Diaphyseal medullary stenosis - bone malignancy"

Am J Hum Genet ; 614-27 ; 6 April 2012
Acrodysostosis: PDE4D mutations involving the cAMP signaling pathway induce a phenotype with characteristic midface and moderate intellectual disability
View the PubMed abstracts
To read more about "Acrodysostosis"

Am J Hum Genet ; 740-5; 746-51 ; 6 April 2012
Zunich-Kaye syndrome is due to impaired glycosylphosphatidylinositol biosynthesis induced by PIGL mutations
View the PubMed abstract
To read more about "Zunich-Kaye syndrome"

Am J Hum Genet ; 685-8 ; 6 April 2012
Syndromic diarrhea: cases with SKIV2L mutations confirm a link between defects of the exosome complex
View the PubMed abstract
To read more about "Syndromic diarrhea"

Am J Hum Genet ; 689-92 ; 6 April 2012
Hereditary breast cancer: XRCC2 expands the list of susceptibility genes associated with an homologous recombination-DNA-repair dysfunction and Fanconi anemia
View the PubMed abstract
To read more about "Hereditary breast cancer"

Am J Hum Genet ; 734-9 ; 6 April 2012
Autosomal recessive malignant osteopetrosis: a mutation found in SNX10 could result in a defect of V-ATPase trafficking impairing resorption lacuna
View the PubMed abstract
To read more about "Autosomal recessive malignant osteopetrosis"

J Med Genet ; 221-6 ; April 2012
Early onset autosomal dominant Alzheimer disease: a genetic heterogeneity involving the same pathway and including SORL1 besides APP and PSEN genes
View the PubMed abstract
To read more about "Early-onset autosomal dominant Alzheimer disease"

Mol Psychiatry ; Epub ahead of print ; 3 April 2012
Kallmann syndrome, combined pituitary hormone deficiencies, and septo-optic dysplasia: a spectrum of anterior midline anomalies with genetic overlap
View the PubMed abstract
To read more about "Kallmann syndrome"
To read more about "Combined pituitary hormone deficiencies, genetic forms"
To read more about "Septo-optic dysplasia"

J Clin Endocrinol Metab ; E694-9 ; April 2012
Isolated NADH-CoQ reductase deficiency: MTFMT, ACAD9, NDUFB3, NDUFS3 and NDUFS8 mutations identified with exome sequencing coupled with functional analysis
View the PubMed abstract
To read more about "Isolated NADH-CoQ reductase deficiency"

J Med Genet ; 277-83 ; April 2012
Hemimegalencephaly: somatic activating mutations of AKT3 limited to the brain cause overgrowth of one cerebral hemisphere
View the PubMed abstract
To read more about "Hemimegalencephaly"

Neuron ; 41-8 ; 12 April 2012
Monomelic amyotrophy: KIAA1377 and C5orf42 identified as susceptibility genes in patients carrying mutations in one or both of them
View the PubMed abstract
To read more about "Monomelic amyotrophy"

Neuromuscul Disord ; 394-400 ; May 2012

Research in Action

Two new review articles focus on the mitochondrial disorders
View the PubMed abstracts
NEJM ; 1132-1141 ; 22 March 2012
Lancet ; 1825-1834 ; 12 May 2012
Cystic fibrosis: a review of causes, effects and therapeutic tools including animal models of the disease
View the PubMed abstract
To read more about "Cystic fibrosis"

Nat Med ; 509-19 ; April 2012
Fundamental Research
Lowe disease: a zebrafish model reveals that OCLR1 contributes to primary cilia assembly in acting into protein trafficking
View the PubMed abstracts
To read more about "Oculocerebrorenal syndrome"

Hum Mol Genet ; 1744-1759 ; 15 April 2012
Hum Mol Genet ; 1835-1847 ; 15 April 2012
Kawasaki disease: critical role of interleukin-1β in coronary lesions shown in a mouse model suggests anti-IL-1β therapy
View the PubMed abstract
To read more about "Kawasaki disease"

Circulation ; 1542-1550 ; 27 March 2012
Fetal methylmercury (MeHg) syndrome: increased neuronal Ca2+ spike frequency rescues granule cell migration in mice exposed to MeHg for short periods
View the PubMed abstract
To read more about "Fetal methylmercury syndrome"

PNAS ; 5057-5062 ; 27 March 2012
Amyotrophic lateral sclerosis: key mechanisms, in particular vulnerability to PI3K inhibition, revealed by iPSCs derived from a patient with a TDP-43 mutation
View the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

PNAS ; 5803-8 ; 10 April 2012
Williams syndrome: an illustration of the influence of genes on behavior via the neural system
View the PubMed abstract
To read more about "Williams syndrome"

PNAS ; E860-6 ; 3 April 2012
Isolated NADH-CoQ reductase deficiency: a KO NDUFS6 mouse model generated by gene-trapping and inducing primarily a cardiac phenotype
View the PubMed abstract
To read more about "Isolated NADH-CoQ reductase deficiency"

PNAS ; 6165-70 ; 17 April 2012
Mechanisms and response to drugs of familial isolated dilated cardiomyopathy can be modeled by cardiomyocytes generated from iPSCs derived from patients
View the PubMed abstract
To read more about "Familial isolated dilated cardiomyopathy"

Sci Transl Med ; 130ra47 ; 18 April 2012
Clinical Research
Chordoma: imatinib has antitumour effects in advanced cases but its therapeutic action remains to be demonstrated
View the PubMed abstract
To read more about "Chordoma"

J Clin Oncol ; 914-920 ; 20 March 2012
Children with juvenile idiopathic arthritis have a higher risk of developing malignancy whatever their treatment
View the PubMed abstract
To read more about "Juvenile idiopathic arthritis"

Arthritis Rheum ; 1263-1271 ; April 2012
Behcet disease: infliximab has a well tolerated activity inducing and maintaining remission of vasculitic manifestations
View the PubMed abstract
To read more about "Behcet disease"

Arthritis Care Res (Hoboken) ; 607-11 ; April 2012
Familial hemophagocytic syndromes: degranulation assays allow a rapid and reliable classification of patients
View the PubMed abstract
To read more about "Familial hemophagocytic lymphohistiocytosis"

Blood ; 2754-63 ; 22 March 2012
Severe primary immunodeficiency diseases: a neonatal screening based on a novel PCR method measuring levels of markers of T and B cell production
View the PubMed abstract
To read more about "Severe combined immunodeficiency"
To read more about "X-linked agammaglobulinemia"
To read more about "Ataxia-telangiectasia"
To read more about "Nijmegen breakage syndrome"

Blood ; 2552-5 ; 15 March 2012
Severe combined immunodeficiency: grafts of stem cells from a mismatched related-donor and from the umbilical cord of an unrelated donor are both valid options
View the PubMed abstract
To read more about "Severe combined immunodeficiency"

Blood ; 2949-55 ; 22 March 2012
Frontotemporal dementia is more frequently associated with amyotrophic lateral sclerosis in patients with expanded repeats in C9ORF72
View the PubMed abstracts
To read more about "Amyotrophic lateral sclerosis"
To read more about "Frontotemporal dementia"

J Med Gen ; 258-63 ; April 2012
Lancet Neurol ; 323-30 ; April 2012
Acute lymphoblastic leukemia: inotuzumab ozogamicin, an antibody against a CD highly expressed in patients, is promising in refractory and relapsed cases
View the PubMed abstract
To read more about "Acute lymphoblastic leukemia"

Lancet Oncol ; 403-11 ; April 2012
A defibrotide prophylaxis lowers the incidence of hepatic veno-occlusive in paediatric haemopoietic stem-cell transplantation recipients
View the PubMed abstract
To read more about "Hepatic veno-occlusive disease"

Lancet ; 1301-9 ; 17 April 2012
Stem Cells

Chronic granulomatous disease: a model generated in vitro from human induced pluripotenty stem cells lines derived from patients
View the PubMed abstract
To read more about "Chronic granulomatous disease"

Stem Cells ; 599-611 ; April 2012
Gene Therapy
Haemophilia B: factor IX expression in skeletal muscle of a patient 10 years after AAV-mediated gene transfer
View the PubMed abstract
To read more about "Hemophilia B"

Blood ; 3038-41 ; 29 March 2012
Haemophilia A: recombinant factor VIII Fc fusion protein provides prolonged protection in humans, mice and dogs allowing less frequent dosing
View the PubMed abstracts
To read more about "Hemophilia A"

Blood ; 3031-7; 3024-30 ; 29 March 2012
Autosomal recessive limb-girdle muscular dystrophy type 2F is ameliorated in hamsters by gene delivery of MG53 essential for sarcolemmal membrane repair
View the PubMed abstract
To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2F"

Mol Ther ; 727-35 ; April 2012
Xeroderma pigmentosum complementation group C: first long-term genetic correction of human XP-C epidermal stem cells
View the PubMed abstract
To read more about "Xeroderma pigmentosum complementation group C"

Mol Ther ; 798-807 ; April 2012
Methylmalonic acidaemia due to complete methylmalonyl-CoA mutase deficiency: an AAV with renal tropism restores MCM function in a murine model
View the PubMed abstract
To read more about "Complete deficiency of methylmalonyl-CoA mutase"

Gene Ther ; 385-91 ; April 2012
Sustained correction of ornithine transcarbamylase deficiency in mice with a self-complementary AAV optimized in order to increase OTC expression
View the PubMed abstract
To read more about "Ornithine transcarbamylase deficiency"

Gene Ther ; 404-10 ; April 2012
A helper-dependent adenovirus encoding a human G6Pase transgene increases lifespan of dogs with glycogenosis due to G6P deficiency type A
View the PubMed abstract
To read more about "Glycogenosis due to glucose-6-phosphatase deficiency type a"

Gene Ther ; 443-52 ; April 2012
Hurler syndrome: injection of encapsulated engineered myoblasts overexpressing IDUA reduce glycosaminoglycan accumulation in a mouse model
View the PubMed abstract
To read more about "Hurler syndrome"

Gene Ther ; 355-64 ; April 2012
Therapeutic Approaches
Neuromyelitis optica: new therapeutic approaches based on the blocking of the autoantibodies anti-aquaporin-4 or the inhibition of a neutrophil protease
View the PubMed abstracts
To read more about "Neuromyelitis optica"

Ann Neurol ; 314-22; 323-333 ; March 2011
Duchenne muscular dystrophy progression is attenuated by elimination of fibrin-driven inflammation coupled to the αMβ2 leukocyte integrin receptor
View the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet ; 1989-2004 ; 1 May 2012
Phenylketonuria: novel pharmalogical chaperones restoring PAHV106A variant function in mice but not yet tested for other PAH mutations
View the PubMed abstract
To read more about "Phenylketonuria"

Hum Mol Genet ; 1877-87 ; 15 April 2012
Rett syndrome: inhibition of the glucocorticoid system of a mouse model has a positive impact contrary to its activation
View the PubMed abstract
To read more about "Rett syndrome"

Hum Mol Genet ; 1673-80 ; 15 April 2012
Fabry disease: pharmacological chaperone AT1001 improves enzyme replacement therapy with the recombinant human α-Gal A in mice
View the PubMed abstract
To read more about "Fabry disease"

Mol Ther ; 717-26 ; April 2012
Retinitis pigmentosa: intravitreal STC-1 reduces oxidative stress, decreases loss of photoreceptors and improves retinal function measured by ERG
View the PubMed abstract
To read more about "Retinitis pigmentosa"

Mol Ther ; 788-97 ; April 2012
MELAS and MERRF syndromes: RNA import into mitochondria provides an approach for treating disorders due to mitochondrial DNA defects
View the PubMed abstract
To read more about "MELAS syndrome"
To read more about "MERRF syndrome"

PNAS ; 4840-5 ; 27 March 2012
Duchenne muscular dystrophy: Hsp72 overexpression improves Ca2+ handling by protecting SERCA and slows muscle degeneration in mice
View the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Nature ; 394-8 ; 19 April 2012
Chronic pharmalogical mGlu5 inhibition corrects a broad spectrum of Fragile X syndrome phenotypes in adult mice
View the PubMed abstract
To read more about "Fragile X syndrome"

Neuron ; 49-56 ; 12 April 2012

Patient Management and Therapy

Adiposis dolorosa (Dercum’s disease): a review with proposal of diagnostic criteria, diagnostic methods, classification and management
Consult the article
To read more about "Adiposis dolorosa"

Orphanet Journal of Rare Diseases ; 23 ; 30 April 2012
Haemophilia: a review of past, present and future of treatment
Consult the article
To read more about "Hemophilia"

Orphanet Journal of Rare Diseases ; 24 ; 2 May 2012
Hepatocellular carcinoma: an update including major advances in prevention, detection, diagnosis, and treatment
View the PubMed abstract
To read more about "Hepatocellular carcinoma"
To read more about "Adult hepatocellular carcinoma"
To read more about "Hepatocellular carcinoma, childhood-onset"

Lancet ; 1244-55 ; 31 March 2012
Multiple system atrophy: premotor symptoms should allow diagnosis of early stages
View the PubMed abstract
To read more about "Multiple system atrophy"

Lancet Neurol ; 361-8 ; April 2012
Multiple myeloma: a review of results obtained with novel drugs for maintenance treatment
View the PubMed abstract
To read more about "Multiple myeloma"

Blood ; 3003-3015 ; 29 March 2012
Eight new Clinical Utility Gene Cards available
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases. The European Journal of Human Genetics has published eight new Clinical Utility Gene Cards for:

Werner syndrome
BEST1-related dystrophies (Bestrophinopathies)
Biotinidase deficiency
Haemophilia B
Familial erythrocytosis
Proximal spinal muscular atrophy
Nemaline myopathy
Alport syndrome

CDG syndrome: a review of inherited glycosylation disorders
View the PubMed abstract
To read more about "CDG syndrome"

Lancet Neurol ; 453-66 ; May 2012
Haemophilia: what care in 2012?
View the PubMed abstract
To read more about "Hemophilia"

Lancet ; 1447-56 ; 14 April 2012
Retinoblastoma: global digital communications present opportunities to optimise standards of care for children around the world
View the PubMed abstract
To read more about "Retinoblastoma"

Lancet ; 1436-46 ; 14 April 2012
Care for proximal spinal muscular atrophy: consensus and controversies
View the PubMed abstract
To read more about "Proximal spinal muscular atrophy"
To read more about "Proximal spinal muscular atrophy type 2"
To read more about "Proximal spinal muscular atrophy type 1"
To read more about "Proximal spinal muscular atrophy type 3"

Lancet Neurol ; 443-52 ; May 2012
Dengue: an expanding disease
Access the article via PubMed
To read more about "Dengue"

NEJM ; 1423-32 ; 12 April 2012
X-linked retinoschisis: from RS1 protein to the disease not forgetting the RS1 gene
View the PubMed abstract
To read more about "X-linked retinoschisis"

Prog Retin Eye Res ; 195-212 ; May 2012
Congenital myasthenic syndromes: 186th ENMC International Workshop
Among key topics explored during the 186th international European Neuro Muscular Centre (ENMC) workshop were diagnostic difficulties, various clinical phenotypes, current therapeutic approaches, and long term follow-up.
Read the paper
Consult other reports of ENMC workshops

To read more about "Congenital myasthenic syndromes"

Neuromuscul Disord ; 566-76 ; June 2011
Fragile X syndrome, and X-linked syndromic and nonsyndromic intellectual deficit: the contributions from genetics
View the PubMed abstract
To read more about "Fragile X syndrome"
To read more about "X-linked nonsyndromic intellectual deficit"
To read more about "X-linked syndromic intellectual deficit"

Am J Hum Genet ; 579-90 ; 6 April 2012
Cystic fibrosis: an update on the screening, diagnosis, management, and treatment of vitamin D deficiency
View the PubMed abstract
To read more about "Cystic fibrosis"

J Clin Endocrinol Metab ; 1082-93 ; April 2012

Orphan Drugs
Regulatory News
Nine positive opinions recommending orphan designation adopted at the June COMP meeting

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted nine positive opinions recommending orphan designation at the June 2012 COMP meeting for the treatment of:

- prevention of poliomyelitis in patients with immunodeficiencies deemed at risk
- Barraquer-Simons syndrome
- Berardinelli-Seip syndrome
- familial partial lipodystrophy
- Lawrence syndrome
- progressive familial intrahepatic cholestasis
- calciphylaxis
- congenital hypotransferrinaemia
- idiopathic pulmonary fibrosis

In other news, under Article 5 (12) of Regulation (EC) No 141/2000 of the European Parliament and the Council, in line with its responsibility to review whether or not a designated orphan medicinal product still fulfils the designation criteria prior to the granting of a marketing authorisation, the COMP adopted 1 opinion recommending to the European Commission that the orphan medicinal product Kalydeco (N-(2,4-Di-tert-butyl-5-hydroxyphenyl)-1,4-dihydro-4-oxoquinoline-3-carboxamide) for treatment of cystic fibrosis (Vertex Pharmaceuticals, UK) be kept in the EU registry of orphan medicinal products.
Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

CHMP recommends approval of first treatment in the EU for short bowel syndrome
The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion recommending the granting of marketing authorisation for Revestive (teduglutide) for the treatment of adult patients with short bowel syndrome. This is the first medical treatment recommended for approval in Europe for this rare, debilitating condition. Revestive (Nycomed Danmark ApS) was designated as an orphan medicine in 2001.


Histiocytosis Association announces launch of 2012 Research Grant Application
The Histiocytosis Association, a global nonprofit organisation funding scientific research into histiocytic disorders, has announced the launch of its 2012 Research Grant Application. Each year, the Association awards individual research grants in an effort to promote better treatments and a cure for histiocytic disorders. Open to international participation, the application deadline is 31 July 2012.
Learn more


Courses & Educational Initiatives

Summer School for Clinical Practice Guidelines on Rare Diseases
This course, consisting of brief presentations followed by individual or small group exercises, will take the participants through the development process for clinical practice guidelines, covering the following topics: Identify key clinical issues to be included (scope) ; Developing review questions using PICO and PIPOH and planning the systematic review; Identifying the evidence: formulating, executing and documenting a search strategy; Assessing quality of relevant studies, summarize and interpreting the body of evidence to make recommendations; Lack of evidence on guidelines development: formal consensus (Delphi-like method); Appraisal of synthesis documents: guidelines and systematic reviews; and more. The course, offered by the Italian National Centre for Rare Diseases, will be of benefit for guideline developers and health care professionals interested in learning how to use evidence in practice. Dates: 9-11 July 2012. Learn more
Epidermolysis Bullosa – An Introduction and Advanced Management courses
Two training days devoted to Epidermolysis Bullosa are being held at the Great Ormond Street Hospital (London in September 2012. The first, an Introductory Day, will be delivered by the EB Specialist Nurses at Great Ormond Street Hospital, and colleagues from St Thomas's Hospital. The programme will offer an overview of the different types of epidermolysis bullosa, (EB) multi disciplinary management and expected outcomes. It is suitable for community children’s nurses; nurses working in palliative care; and dermatology nurses. Learn more
The second day-long course, Advanced Management, will offer a greater understanding of the complexities and complications of EB and their management. It is geared towards medical practitioners working with adults and children with EB and will allow attendees to discuss the current research and current / potential therapies; recognise complications pertaining to the different types of EB; explain principles of general care of the patient with EB; describe current treatments and symptom management; and more. Learn more

Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
The Sixth Clinical Cytogenetics course will be held from 15-21 September 2012 at the Goldrain Castle in South Tyrol (Italy). The lectures are aimed at both clinicians and cytogeneticists who have strong mutual interests in both fields. To best profit from the lectures and exercises, participants should have at least one year of practical experience in laboratory and/or clinical cytogenetics.
The Goldrain Prenatal Genetic Diagnosis, tentatively course scheduled from 6-12 October 2012, is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination.
For further details

IberoAmerican Course for the Multidisciplinary Study of Movement Disorders: Parkinson Disease and Spinocerebellar Ataxias
This international workshop will held in Lima, Peru from 19-20 September 2012. The course is aimed at neurology residents and students in a doctoral degree program in medicine, biology, biochemistry, biotechnology, pharmacy, genetics, or related disciplines. This course will provide updates on the current knowledge in basic, clinical, and translational research, genetics, and therapeutics in movement disorders such as Parkinson disease and the Spinocerebellar Ataxias.
For further details

Master of Science in Haemoglobinopathy
A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
For further details

The European School of Haematology distance learning tools
The European School of Haematology (ESH) is a non-profit organisation founded in 1986. Its mission is continuous medical education in Haematology and the fields related to Haematology. ESH organises conferences throughout Europe and on other continents. It also produces distance learning tools of which many are freely available on the ESH website: These include: The Curriculum on Iron Metabolism and Related Disorders: This is a comprehensive curriculum comprising webcasted lectures, videos, interviews, round table discussions etc. The faculty is composed of distinguished international experts in the field. Webcasted conferences are also freely available on the website, including topics such as: Diagnosis and Management of Rare Anaemias; Haemoglobin Disorders: Laboratory Diagnosis and Clinical Management; World Cord Blood Congress, and more.
Orphan Academy 2012 Programme
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


What's on Where?

World Federation of Hemophilia World Congress
Date: 8-12 July 2012
Venue: Paris, France

The WFH World Congress is the single largest event in the WFH calendar, and is very important to the global bleeding disorders community. Every second year doctors, scientists, healthcare workers, people with bleeding disorders and haemophilia organisations gather to learn about the latest developments in bleeding disorders treatment, to discuss, to debate and to contribute to a strong global organization and community. This year’s Congress will feature presentations, workshops, and exhibits on cutting-edge trends in research and treatment for haemophilia and other inherited bleeding disorders.
For further details

Retina International World Congress
Date: 14-15 July 2012
Venue: Hamburg, Germany

This congress, held every two years, includes: the latest information on diagnostics, therapy and disease management in diseases such as retinitis pigmentosa, AMD, Usher syndrome, Bardet-Biedl syndrome, Stargardt’s disease, Cone-rod dystrophy, and more; the latest in international research, and much more.
For further details

7th Annual Rare Disease and Orphan Drug Leadership Congress
Date: 18-19 July 2012
Venue: Philadelphia, USA

This commercial event will address FDA/EMA initiatives; Pricing/reimbursement issues; Partnerships with patient advocacy groups; Social media; and more.
For further details

3rd Annual Orphan Drug Summit
Date: 25-26 July 2012
Venue: London, UK

This commercial event will bring together industry leaders from pharma/biotech companies, patient advocacy groups, government, regulators, investors and insurance companies, to share approaches, challenges and successes in orphan drug development.
For further details

7th European Elastin Meeting
Date: 1-4 September 2012
Venue: Ghent, Belgium

Topics include mechanisms of microfibrils and elastic fibres, heritable and acquired diseases, therapeutic advances and more.
For further details

13th International Workshop on Multiple Endocrine Neoplasia
Date: 5-8 September 2012
Venue: Liege, Belgium

An established event for all those interested in research and treatment of multiple endocrine neoplasias, this workshop represents the ideal opportunity to share knowledge with peers and those working in related fields. Both research techniques and therapeutic modalities have undergone significant expansion in recent years and the program provides an opportunity for all to inform and be informed about thought-provoking advances in treatment, genetics and molecular biology.
For further details

The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
Date: 6-8 September 2012
Venue: Shanghai, China

Scientific sessions include: Beyond GWAS; Impact of 1,000 Genomes Project; Genome variation in complex diseases; Rare variations in neuropsychiatric and developmental disorders; New technologies; Challenges and Opportunities of large datasets; Therapeutic Targets Emerging from Genetic Variants in Common Networks; and much more.
For further details

First International Symposium on the Ehlers-Danlos Syndrome
Date: 8-11 September 2012
Venue: Ghent, Belgium

Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
For further details

Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
Date: 26-27 September 2012
Venue: London, UK

The aim of this conference is to discuss paediatric drug development in Europe, offering open discussion between academics, clinicians, regulatory authorities, patient associations and the pharmaceutical industry.
For further details

15th Biennial Meeting of the European Society for Immunodeficiencies
Date: 3-6 October 2012
Venue: Florence, Italy

The conference will cover the following topics: Inflammation; Immune Dysregulation; Innate Immunity; Hemophagocytic Lymphohistiocytosis; Immunotherapy; Networking for PID; Diagnostics of Combined Immunodeficiencies; Increasing Awareness of PID Worldwide; New Frontiers on PID Therapeutics; Gene Therapy; Autoimmunity in PID; New Developments in Transplantation; Mechanism of Humoral Dysregulation in PID; B Cell Disorders; Immunodeficiency Secondary to Autoantibodies: Phenocopies of PID; Thymus Defects; and DNA Repair and Telomere Defects. The XIIth Biennial Meeting of the International Patient Organisation for Primary Immunodeficiencies (IPOPI) is also being held in partnership with the European Society for Immune Deficiency (ESID), and the International Nurses Group for Immune Deficiency (INGID).
For further details

Mechanisms of Intellectual Disability: From Genes to Treatment
Date: 3-7 October 2012
Venue: Roscoff, France

The conference will cover the following topics: Genetics and Epigenetics of cognition and intellectual disorders; Cloning and characterization of genes; RNA metabolism and ID; Structures and plasticity of synapses and ID; Neurogenesis and synaptogenesis; Migration, interneurons and ID; Neuronal circuit development and ID ; and Towards a cure: lessons from animal models.
For further details

EpiRare International Workshop: Rare Disease and Orphan Drug Registries
Date: 8-9 October 2012
Venue: Rome, Italy

The International Workshop “Rare Diseases and Orphan Drug Registries” is organised in the framework of the EpiRare project (“European Platform for Rare Disease Registries”, co-funded by EU Commission, DG SANCO). Open to scientists, clinicians, patient associations, policy makers and enterprises, the workshop aims to share different experiences of rare disease registration in Europe and beyond; highlight the strengths and opportunities of linking rare disease registration activities, orphan drug post-marketing surveillance, etc; promote the sustainability and networking of registration activities; and more. Deadline for abstract submission: 31 July 2012
For further details

Second International Conference on Esophageal Atresia: From the Fetus to the Adult
Date: 8-9 October 2012
Venue: Montreal, Canada

In addition to bringing together experts from various disciplines, the theme of the conference will create important links between paediatric and adult medicine, reflecting the need for a continuum of care, which this increasingly numerous population requires. Inherent morbidity related to this condition also underlines the need for long-term monitoring.
For further details

Orphan Drugs & Rare Diseases Conference
Date: 8-9 October 2012
Venue: London, UK

This commercial event will present briefings from opinion leaders, including those with hands-on experience of regulating new drug discoveries, companies who have already developed advanced orphan drugs and been granted orphan designation, and selected experts in the field. Speakers will offer insights into expanding the reach of medicine to previously untreatable and unreachable patients with rare diseases; different regulatory and policy environments; new drug discoveries; innovative business strategies and funding models, and the importance of partnerships with patient groups and those at the point-of-care.
For further details

15th Society for the Study of Behavioural Phenotypes
International Research Symposium and Education Day: Social Phenotypes in Genetic Disorders Date: 11-13 October 2012
Venue: Leuven, Belgium

The theme of this year's conference is "Social Phenotypes in Genetic Disorders" and the focus will be on the development, phenotype, genetics and brain basis of social cognitive skills, and on molecular targeted therapy in genetic syndromes. Deadline for abstract submission: 31 May 2012
For further details

3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
Date: 25–26 October 2012
Venue: Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details

The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
Date: 26–27 October 2012
Venue: Ede, Netherlands

Topics will include autophagy; clinical studies; erythropoiesis; new genes; pathophysiology; protein-misfolding; treatment strategies and round table discussions with patient organisations and basic and clinical researchers.
For further details

International Ataxia Research Conference
Date: 1-3 November 2012
Venue: London, UK

Topics will include emerging therapeutic strategies for the ataxias; genetic and molecular analysis of the frataxin gene and protein; episodic ataxias and non-inherited ataxias; ataxia clinical research from trials to clinic – biomarkers and clinical trials; and more. .
For further details

8th International Society for Newborn Screening European Regional Meeting
Date: 4-6 November 2012
Venue: Budapest, Hungary

Topics will include: To screen or not to screen - setting up screening panels; Congenital adrenal hyperplasia; Cystic fibrosis; Severe combined immune deficiencies; Lysosomal storage disorders; and more. .
For further details

6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
Date: 7-9 November 2012
Venue: Prague, Czech Republic

Topics will include Refractory Cytopenia of Childhood, advanced MDS; Juvenile Myelomonocytic Leukemia; Ph-negative Myeloproliferative Disorders; Therapy-related myeloid neoplasia; Severe Aplastic Anemia; Congenital Bone Marrow Failure; Morphology and Classification; Stem cell biology; Molecular aberrations and potential targets; Novel therapeutics, and Hematopoietic Stem Cell Transplantation.
For further details

3rd Annual World Orphan Drug Congress
29-30 November 2012
Geneva, Switzerland

The 3rd annual World Orphan Drug Congress provides a forum for the rare disease industry. This commercial event has three dedicated tracks this year: clinical development and R&D; market access, pricing, and reimbursement; corporate development and partnerships.
For further details

10th Asia-Pacific Conference on Human Genetics
Date: 5-8 December 2012
Venue: Kuala Lumpur, Malaysia

The APCHG2012 will examine various themes on personalised medicine, human variations in the Asia-Pacific region as well the latest advances on genetic diagnostics and technology and their implications to healthcare in the region. In addition, the APCHG2012 will also discuss issues pertaining to bioethics, genetics education and counselling as well as preventative strategies for birth defects and inborn errors of metabolism, and to provide a platform for patients and families to discuss emerging issues in individuals with inherited conditions and chronic disabilities.
For further details

7th Alstrom Syndrome International Family Conference and Scientific Symposium
Date: 9-13 May 2013
Venue: Massachusetts, USA

Medical professionals and scientists will hold Symposia on Thursday, 9 May and Saturday 11 May.
For further details

8th International Prader-Willi Syndrome Conference
Date: 17-21 July 2013
Venue: Cambridge, UK

An opportunity for all involved worldwide in research, working or living with people with PWS to present current research and explore best practice in clinical and day to day management of PWS.
For further details


Media, Press & Publications
Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing

A new book, written by a bioethicist and psychiatrist, looks at how knowledge of one’s genetic makeup contributes to the overall sense of identity each of us refine and redefine on a regular basis over the course of a lifetime. Via interviews with 64 persons with monogenic diseases, including Huntington disease and alpha-1 antitrypsin deficiency, the author evokes the various ethical questions surrounding the decision to undergo genetic testing, disclose a test result to family members, make reproductive decisions, choose treatment options, and assimilate genetic makeup into one’s concept of identity. Of particular interest to genetic counsellors, Am I My Genes raises pertinent questions and depicts the challenges undertaken by those facing the prospect of genetic disease.
Title: Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing
Author: RL Klitzman
Publisher: Oxford University Press, 2012
ISBN-13: 978-0199837168

A new text provides an understanding of dental genetics and related conditions
Dental defects are often not recognised, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. Indeed, dental defects are present in a variety of syndromes associated with organ malformations. A new text, entitled Dento/Oro/Craniofacial Anomalies and Genetics addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as insight into recent development for each specific condition.
Title: Dento/Oro/Craniofacial Anomalies and Genetics
Authors: A Bloch-Zupan, H Sedano and C Scully
Publisher: Elsevier, 2012
ISBN: 9780124160385

Old and new entities with Rett or Angelman syndrome-like intellectual disability
Following technical and methodological improvements of the last decade, the underlying genes of a number of syndromes involving severe intellectual disability resembling Angelman and Rett syndromes have been identified. In order to keep track with these new entities, this reprint of Molecular Syndromology 2011, Vol. 2, No. 3-5 provides comprehensive reviews of the state of clinical and genetic knowledge for the ‘old’ entities of Angelman and Rett syndromes, as well as the newer syndromes related to MECP2 duplication or defects in the CDKL5, FOXG1, MEF2C, TCF4, NRXN1, CNTNAP2, SHANK3, EHMT1 and FOXP1 genes. The special challenge that presents itself when seeking to establish a diagnosis in adult patients is discussed.
Title: Old and New Entities with Rett or Angelman Syndrome-Like Intellectual Disability
Author: A Rauch -Ed
Publisher: Karger, 2012
ISBN-13: 978-3805599689

Glycoland and the Coloured Antennas helps children make sense of a rare metabolic disease

The story of Glycoland and the Coloured Antennas explains congenital defects of glycosylation in a simple and entertaining way, which can be understood by children and adults alike. Available in Catalan, English, French, Portuguese and Spanish languages, this colourful online book, created by physicians at the Hospital Sant Joan de Deu (Barcelona) with support from the Portuguese and Spanish CDG Associations, is freely accessible for downloading, printing or viewing online.
Learn more


Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
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, Kate Bushby, Catherine Berens, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Andor Wagner (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Stefan Schreck, Kerstin Westermark (EMA-COMP)

Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Hugh Dawkins (Australia) , Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Helen Michelakakis (Greece), Sandor Janos (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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