20 February 2013 print
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Editorial
 
EUCERD unanimously adopts recommendation on European Reference Networks for Rare Diseases
 


At their 7th Meeting on 31 January 2013 in Luxembourg, the European Union Committee of Experts on Rare Diseases (EUCERD) unanimously adopted their third recommendation to date, entitled 'EUCERD Recommendations on European Reference Networks for Rare Diseases'.
The recommendations were elaborated by the Committee to feed into the work of the Cross-Border Healthcare Expert Group, currently in the process of aiding the European Commission implement the Cross-Border Healthcare Directive, adopted on 28 February 2011 (For further details). European Reference Networks (ERNs) are one of the structures foreseen by the Directive to share knowledge, facilitate the mobility of expertise, and to allow Member States to provide highly specialised services of high quality for patients where this would have been impossible without European networking, such as in the case of rare diseases. Member States are also encouraged in the Council Recommendation on an action in the field of rare diseases (8 June 2009) to help foster the participation of centres of expertise in these ERNs. The EUCERD has already elaborated recommendations concerning centres of expertise for rare diseases which describes how these centres could participate in such networks.
The recommendation is addressed to the European Commission and the Member States and includes 21 individual recommendations covering a range of aspects including the mission, vision and scope of ERNs, their governance, their composition, their funding and evaluation, as well as their designation.
The "EUCERD Recommendations on European Reference Networks for Rare Diseases" are now available here
 


 
Spotlight on...
 
Multi-million Euro IRDiRC projects launched in Barcelona
 


EU has awarded nearly 40 million Euros to fund three ambitious projects under the IRDiRC (International Rare Disease Research Consortium) flagship. An official announcement was made in Barcelona on 25-27th January 2013, and is hailed as a significant step towards better care for rare disease patients. Funded by the European Commission’s Seventh Framework Programme, objectives of these projects include finding new treatments for rare diseases and creating a “central global rare disease hub” that will help scientists from 70 institutions around the world to share their genomic research data.

Collating data from different sources is becoming an important aspect of genomic research, especially in the case of rare diseases. Recent advances in DNA sequencing technology makes it possible for an individual genome to be sequenced within days at a much lesser cost than before. However, interpreting these enormous quantities of genomic data can be challenging. According to Dr. Segolene Ayme, coordinator of SUPPORT-IRDiRC, “Sequencing produces a vast amount of information but in most cases it will find hundreds of genetic changes in each person. We now need to collate the data internationally to discover which change- or combination of changes-actually causes the disease”. Pr Hanns Lochmüller, coordinator of one of the three projects, stressed “that sequencing is only the first part of the story. It doesn’t replace clinical expertise – in fact, being able to combine genetic data with clinical data is more important than ever. (…) To deliver concrete benefits to patients in terms of diagnosis and therapy development, the ability to link ‑omics data with clinical data and biomaterials of individual patients or well-defined patient cohorts is crucial.”

These IRDiRC projects aim to combine and collate genetic, clinical and biomaterial data “to help interpret the vast amounts of data the genome yields (which) will aid scientists in the search for genetic causes of diseases and help identify new ways to create targeted therapies”, Pr Paul Lasko, Member of IRDiRC Executive committee, has noted in a statement. IRDiRC has set a goal of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by 2020, commencement of these projects will greatly facilitate reaching this goal. It is simply a matter of time before personalised treatments become a reality. The projects will interact closely with one another in sharing skills, experiences and infrastructure where possible and will share an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. The three funded projects are:

EURenOmics, which aims to identify novel genetic and epigenetic causes and modifiers of rare renal disease and their molecular pathways, develop innovative technologies allowing rapid diagnostic testing, discover and validate biomarkers of disease activity, prognosis and treatment responses, and develop in vitro and in vivo disease models to apply high-throughput drug candidate screening;

Neuromics, which addresses rare neurodegenerative and neuromuscular disorders and will use next generation whole-exome sequencing (WES) to increase the number of known gene loci, increase patient cohorts through large scale genotyping by gene panel enrichment and next generation sequencing, develop biomarkers for clinical application with a strong emphasis on presymptomatic utility and cohort stratification, identify disease modifiers and develop targeted therapies using latest generation genetic approaches;

RD-Connect, which will develop a global infrastructure for sharing the research outputs of these and other rare disease projects, enabling scientists and clinicians worldwide to access a single centralized repository for omics data, phenotypic and biomaterial information.
 


 
EU Policy News
 
Public genetic databases: can we make the distinction between privacy and invisibility?
 

The European Parliament’s rapporteur on the Data Protection Regulation has published a draft report endorsing that “...processing of sensitive data for historical, statistical and scientific research purposes is not as urgent or compelling as public health or social protection.” This report is a cause of concern as enacting it into law may make recruiting subjects for clinical research through registries extremely difficult. Although it includes an amendment allowing the usage of data after obtaining informed consent, it may restrict registry-based research, which has provided valuable insights in the field of rare disease research. Another amendment in the report allows the passing of a law permitting the use of pseudonymised/key-coded data without consent in cases of “exceptionally high public interest”. However, garnering an extraordinary level of public interest for rare disease research can be challenging. Furthermore, using pseudonymised data will be a major setback for several research collaborations that are trying to make optimal use of scarce resources and data available to them.
Although rare disease patients also have concerns of privacy, one of the biggest challenges they face is the insufficient or in most cases a complete lack of treatment options available to them. Many patient groups are advocates of disease registries and databases and have also helped initiate their development together with medical experts in order to further research and development of treatment options. The significance of the right to proper treatment for rare disease patients cannot be undermined. Thus a delicate balance has to be observed, especially for rare disease patients.
Read Eurordis statement on proposed Data Protection Regulation

 


 
National & International Policy Developments
 
Scotland moves towards an equitable access for orphan drugs
 
The Scottish government has established a fund of £21 million in an effort to ensure equitable access to medication for rare disease patients. Drugs like Kalydeco, which made the top 50 FDA approved drug list, was rejected by the Scottish Medicines Consortium (SMC) due to its price and “low” performance. Additionally, a hearing at the Scottish parliament contented that the availability of drugs through Individual Patient treatment Requests (IPTR) is an “inequitable process”, wherein needs of the “more vulnerable” population such as rare disease patients are not addressed. This has resulted in an inability for rare disease patients to access these innovative drugs, approved by the EMA, due to their prohibitive costs. To circumvent this issue, the fund will ensure that “....the cost of successful new individual patient treatment requests for orphan medicines are met”. A review committee will meet in November 2013 to address the system at IPTR, meanwhile the £21 million fund will cover the cost of orphan drugs for patients until the review is complete.
Learn more
Consult the Scottish Medical Consortium website

 
Italian National Plan on rare diseases drafted
 

The Ministry of Health in Italy presented the first draft of the National Plan for Rare Diseases on 18 December 2012 during a meeting with the associations of rare patients and the Ministry. This plan is the result of the recommendations of the EU council action on rare diseases, which asks EU countries to adopt in its territory an action plan for rare diseases by the end of 2013. In Italy, this project is lead by the Istituto Superiore di Sanità. In 2011, the Ministry established an ad hoc committee for the definition of the plan. In April 2012 the committee's delivered a draft plan that was sent for an initial evaluation, before its presentation and public consultation on 18 December 2012. For further details

 
EB-CLINET’s inaugural meeting report
 
EB-Clinet hosted its first meeting for Epidermolysis Bullosa (EB) clinical network on 5-7 October 2012 in Salzburg, Austria. EB is a rare genetic connective tissue disorder, characterised by recurrent blisters and skin trauma. This meeting was held to bring together members of the various centres and to share ideas for the future of EB clinical centres. The meeting was attended by 106 participants from all over the world, which included “lead clinicians and other senior staff”. Prof. Helmut Hintner commenced the meeting by “outlining the EU criteria for a centre of expertise” and also added that the many of the EB clinical centres meet these requirements, thus hoping that together they could form European Reference Network (ERN) for EB. Stephen Lynn from Treat NMD delineated the success of their network for neuromuscular diseases and proposed that EB network could be based on the TreatNMD model. All centres made a short presentation on their work. Although the number of patients varied, “all (centres) expressed a deep commitment to treating patients in the best possible way and to developing and sharing their expertise”. It was observed that depending on the size of the centre, different levels of multidisciplinary or interdisplinary care was provided. The centres also differed in the amount of research undertaken and some of the larger centres have “well-established research laboratory facilities”. Many centres offered different levels of training opportunities to professionals. During the meeting the London unit announced the launch of their online modular training programme. The Salzburg EB house provided their patients handbook to all centres, which furnishes detailed answers to the queries of EB patients. Persuaded by the success of this meeting, the organizers plan to hold it “once in 2 years in different locations”. For further details

 
Other European news
 
A national Alkaptonuria centre opens in Liverpool.
 
18 January marked the official opening of the Robert Gregory National Alkaptonuria (AKU) Centre in Liverpool. It was opened by Lord Kenneth Ward-Atherton with centre lead, Dr. L. Ranganath and Liverpudlian founder of the AKU society, Robert Gregory. Funded by the Department of Health, it provides free assessment and treatment for sufferers of AKU who live in either England or Scotland. AKU patients can also participate in the five year clinical trial of the drug nitisinone, coordinated by Dr. L Ranganath. This clinical trial will recruit patients from 3 centres; Liverpool, Peistany in Slovakia and Paris, France For further details

 
Other International News
 
Eight days to rare disease day: the countdown begins.
 
The sixth Rare Disease Day on 28 February 2013 will be celebrated across the globe. With this year’s slogan “Rare disorders without borders”, the rare disease community urges you to join in wherever you are in the world. You can participate in the multitude of events and activities planned across Europe, Asia, the Americas, as well as Australia and New Zealand. Rare disease patients will greatly benefit from the cooperation and collaboration of communities all around the world. Let us extend a welcoming hand across borders and find that we are joined by many.
Get involved in events and activities on Rare Disease Day
Watch the official video of 2013 and SHARE it with your contacts

 
Japan reforms policy on rare disease subsidies
 
The committee for the rare and intractable diseases in Japan recently generated a proposal for intractable disease for the Commission for Specific Disease Control under the Health Science Council. This proposal was accepted on 31 January 2013 and will be enacted into law by the Ministry of Health and Labour welfare. The objective of the proposal was to reform the current policies on intractable disease by

o Improving the quality of the development of effective treatment methods
o Introducing a fair and stable medical expense subsidy system
o Enhancing awareness among the public

To accomplish these objectives, the committee recommends increasing the number of reimbursed intractable disease treatments from 56 to 300, and provide a comprehensive long-term care and social support for patients with intractable disease. To ensure fairness, the committee recommends narrowing the subsidy beneficiaries only to patients facing a severe disruption to lifestyle. The committee also placed great importance to strengthening research and promoting comprehensive and strategic study of intractable diseases.

 
Bioinformatics, Registries and Data Management
 
Korean rare disease knowledge base launched
 
A recent article in Healthcare Information Research describes the first web-based “Korean Rare Disease Knowledge Base (KRDK)”. “This knowledge base is comprised of disease summary and review, causal gene list, laboratory and clinic directory”. The database intends to add an orphan drug database to its repertoire. The website can be accessed at http://www.snubi.org/software/raredisease/. Modelled on the genetic database- GeneTests (www.genetests.org), this database provides quick querying and prevents the appearance of redundant data. The database uses Orphanet as the main resource for information on rare disease, genetic data and reviews. It contains “...520 rare disease entries and 48 disease reviews”. After confirming the name, address, service provided and other details the authors established the national laboratory and clinic directory. The database provides a summary of the patient registry - Bio Electronic Medical Record (BioEMR)and is integrated with Genome Research Information Pipeline to provide all information relating to the gene.
Consult the PubMed abstract

 
Screening and Testing
 
National society of genetic counsellors and FIGO committee report on prenatal testing and diagnosis
 
A recently published position paper of the National Society of Genetic Counselors (NSGC) has provided guidelines for Non-Invasive Prenatal testing (NIPT). The discovery of cell-free fetal DNA in maternal plasma in 1997 has been advantageous for many families. Various sensitive measures such as massively parallel sequencing (MPS) that sequences cell-free fetal DNA are especially effective in detecting chromosomal aneuploidies. This has “led to the clinical availability of NIPT in high risk pregnancies in the U.S., beginning in late 2011”. NSGC recognises NIPT as an option for high risk pregnancies, however, it does not “currently support NIPT as a routine first tier aneuploidy screening”. NGSC recommends that mothers go through a proper counselling procedure wherein the limitations of NIPT, especially in detecting some conditions are described along with the “unproven role in detecting other conditions”. They also stress that NIPT “does not replace standard risk assessment and prenatal diagnosis”. Due to the “vastly superior sensitivity”., NSGC recommends that the patients are made aware of the “...significant implications of a positive result prior to undergoing NIPT”. NSGC recognises that due to evolving technology and advent of newer methods such as microarray analysis and single-gene testing and they will need to reassess their recommendations to “reflect these changes”.
Consult the PubMed abstract

In related news, the FIGO committee report on the ethical aspects of human reproduction and womens health was released in January 2013 in the International Journal of Gynecology and obstetrics. The committee recommends that women must be advised about the “risks and benefits” of prenatal screening that are “specific to technique”. They emphasize that access to prenatal diagnosis should not be refused on grounds of social, financial or views on pregnancy termination. The significance of informed consent for all procedures, from routine to specific pregnancy screening, was also highlighted. The committee recommends asking consenting women if they wish to not know certain information such as “sex of the fetus, or a specific possible disease or malformation”. Additionally, they believe all information of the prenatal screening should remain confidential and should be revealed only at the discretion of the mother. The committee also elaborates on how genetic counsellors can deal with mothers who may be involved in sex selection. They advocate broad availability of diagnostic services and medical access during pregnancy or delivery despite the status of the fetal abnormality.
Consult the Journal

 
A Canadian study on the social barriers for Huntington disease testing
 
A recent study found that although comprehensive predictive testing programmes for Huntington disease is available in Canada free of cost, this service may not be delivered to the patients in an equitable manner. The authors thus call for an improvement in the way these services are delivered. They found that the biggest challenge was the time commitment and travel involved to the clinic in Vancouver. Patients were often frustrated with the “length of the testing process”. Some were unhappy with the “babying" and "handholding” during counselling and result sessions, which was considered patronizing. Others reasons included length of the reimbursement process and the inability to obtain appropriate forms to complete this process.
Read the PubMed abstract

 


 
Ethical, Legal & Social Issues
 
A question of privacy in genome databases
 
A recent study published in Science has been a cause of intense debate as it demonstrated that the anonymity of personal genome data can be breached simply by possessing computational tools and Internet connectivity. However, it should be noted that the method used by the authors might not work in cases where a considerable demographic data is not available.
The authors show that “full identities of personal genomes can be exposed via surname inference from recreational genetic genealogy databases followed by Internet searches”. The authors describe an algorithm by which an individual’s genetic pattern (short tandem repeats on the Y chromosome) can be accessed from their personal genomes and then matched with surnames from genetic genealogy databases such as SMGF and Ysearch, thus breaching the anonymity of registered individuals. In this study, they successfully identified 10 males registered in the Center for study of Human Polymorphism family collection of genomes. The authors recognise the importance of “donating samples for data sharing” and do not discourage it, but instead call for “clear policies for data sharing, educating participants about the benefits and risks of genetic studies and legislation of proper usage of genetic information”.
Read the PubMed abstract

 


 
New Syndromes
 



 
De novo PACS1 mutations involved in an intellectual disability syndrome with specific craniofacial features
 
The authors report on two unrelated boys with intellectual disability, developmental delay and the same facial characteristics encompassing hypertelorism, downslanting palpebral fissures, mild synophris with highly arched eyebrows, long eyelashes, a bulbous nose, a flat philtrum, low-set ears, a wide mouth with downturned corners, a thin upper lip, and diastema of the teeth. They also share widely spaced nipples, distal limbs anomalies, and cryptorchidism. Both young patients carry a de novo PACS1 mutation so inducing this intellectual disability syndrome including these specific craniofacial features.
Consult the PubMed abstract

 
Am J Hum Genet ; 91(6):1122-7 ; December 2012
 
An inherited skin fragility unexpectedly linked with an EXPH5 mutation
 
A new form of inherited skin fragility has been identified by the authors in three members of a consanguineous family. The disease manifests in early childhood as scale crusts and intermittent skin blistering generally caused by trauma thought some can occur spontaneously. Sometimes hemorrhagic and bruised, these lesions resolve over several weeks in most of the cases and leave slightly atrophic scars and moderate postinflammatory hyperpigmentation. Moreover mild diffuse mottled hyper- and hypopigmentation are observed on the trunk and proximal limbs. Histological studies of the skin of one patient exhibit mild acanthosis and hyperkeratosis, and anomalies affecting the dermal-epidermal junction and the lower epidermis. This pattern does not match any form of epidermolysis bullosa. The EXPH5 mutation found in these three patients reveals a hitherto unknown role of this gene in inherited skin fragility.
Consult the PubMed abstract

 
Am J Hum Genet ; 91(6):1115-21 ; December 2012
 
Disruptions in LINC00299 identified in patients with developmental disabilities
 
Examining of a severely developmentally delayed 16-year-old girl led the authors to detect a disruption in the noncoding sequence LINC00299. They also identified deletions in this locus in four unrelated subjects with neurodevelopmental anomalies. The deficits observed display varying degree of severity. While the 16-year-old girl needs complete care, is non-speaking, has poor eye contact, particular routines and ritual behaviors, one of the four others patients mentioned here is a 43 year-old woman with mild intellectual deficiency, bouts of confusion and abnormal behavior, seizure and articulation disorders. Because both are very thin, they may also suffer from a metabolic anomaly. The noncoding RNA transcribed from LINC00299 is highly expressed in brain suggesting an association between disruptions in this gene and the phenotype of these five patients.
Consult the PubMed abstract

 
Am J Hum Genet ; 91(6):1128-34 ; December 2012
 
A ZNF335 mutation identified in patients with severe microcephaly
 
The authors studied a family with seven members (two of them identical twins) presenting with one of the most severe microcephaly hitherto reported (head circumference 9 standard deviations below mean). All affected individuals were born to consanguineous unions. Brain imaging and histology reveal very simplified gyral pattern, thinned cerebral cortex markedly smaller than the skull, with subarachnoid fluid separating the two, few neurons in addition disorganized, with little apparent polarity or dendritic maturation, that is consistent with a neuronal degeneration. All infants had, associated with microcephaly, a small birth weight and length suggesting that somatic growth is impaired, and all but one died during the first year of life. The ZNF335 mutation found in these patients identifies this gene as a central regulator of neuronal production and differentiation.
Consult the PubMed abstract

 
Cell ; 151(5):1097-1112 ; November 2012
 
A congenital diarrheal disorder with hyperlipidemia in two children with a DGAT1 mutation
 
A novel congenital diarrheal disorder (CDD) has been identified by the authors in two children, sister and brother. In both cases, the disease manifested 3 days after birth as severe, intractable, non bloody, watery diarrhea. Laboratory and histological studies revealed protein-losing enteropathy, hyperlipidemia with elevated fasting serum TG level (combined with high serum total cholesterol level in the boy), and dystrophic microvilli in the duodenum. Complications of malnutrition and sepsis caused death of the girl at 17 months of age while most of the symptoms disappeared in his brother at 10 to 12 months of age. An homozygous DGAT1 mutation inducing a total loss of function were found in both children. This rare cause of CDD could impair fat absorption and buildup of DGAT targets in the intestinal mucosa.
Consult the PubMed abstract

 
J Clin Invest ; 122(12):4680-4 ; December 2012
 
A novel syndromic oesophageal atresia with mandibulofacial dysostosis due to EFTUD2 mutations
 
The authors report on 8 patients suffering from both mandibulofacial dysostosis and oesophageal atresia. The clinical signs most often observed in these patients are facial dysmorphic features (facial asymmetry, malar and mandibular hypoplasia, preauricular tags, cupped, low set, dysplastic or asymmetric ears, microtia, partial paralysis of the elevator of the angle of the mouth, arched and cleft palate). Some of them also present with others disorders including growth retardation, intellectual disability, microcephaly, hearing loss, osseous, limb, cardiovascular, genital or renal anomalies. One suffers from epilepsy. All carry either deletions affecting EFTUD2 and neighboring genes or loss-of-function EFTUD2 mutations. Different pathologies were first suggested for most of these cases, notably CHARGE syndrome but also Goldenhar syndrome, VATER association and Feingold syndrome.
Consult the PubMed abstract

 
J Med Genet. ; 49(12):737-46 ; December 2012
 
Short stature, hypospadias, vertebral defects and intellectual disability: maybe a new syndrome?
 
A new syndrome could have been identified by the authors in two brothers with disproportionate short stature due to truncal shortness, hypospadias, thoraco-lombar scoliosis, segmentation and fusion defects of the thoracic and lumbar vertebral spine including hemivertebrae and ‘‘butterfly shaped’’ vertebrae. They also present with intellectual disability (IQ 50 and 65), cutaneous syndactyly and swan neck deformity of all the fingers. The authors think that this probably new syndrome is transmitted in an autosomal recessive manner but they don’t rule out X-linked inheritance.
Consult the PubMed abstract

 
Am J Med Genet A ; 158A(12):3065-70 ; December 2012
 


 
New Genes
 



 
Blepharophimosis-intellectual deficit syndrome: UBE3B mutations in an autosomal recessive form with low cholesterol levels
 
Consult the PubMed abstract
 
To read more about "Blepharophimosis-intellectual deficit syndrome"

 
Am J Hum Genet ; 91(6):998-1010 ; December 2012
 
Cervical dystonia: ANO3 mutations involved in an autosomal dominant type with head and/or upper-limb dystonic tremor
 
Consult the PubMed abstract
 
To read more about "Cervical dystonia"

 
Am J Hum Genet ; 91(6):1041-50 ; December 2012
 
2-aminoadipic aciduria: missense and nonsense DHTKD1 mutations in two patients with mild phenotype
 
Consult the PubMed abstract
 
To read more about "2-aminoadipic aciduria"

 
Am J Hum Genet ; 91(6):1082-7 ; December 2012
 
Autosomal dominant Charcot-Marie-Tooth disease type 2: a DHTKD1 mutation inducing mitochondrial and peripheral nerves dysfunction
 
Consult the PubMed abstract
 
To read more about "Autosomal dominant Charcot-Marie-Tooth disease type 2"

 
Am J Hum Genet ; 91(6):1088-94 ; December 2012
 
X-linked Charcot-Marie-Tooth disease type 4: an AIFM1 mutation considerably broadens the phenotypic spectrum associated with defects in this gene
 
Consult the PubMed abstract
 
To read more about "X-linked Charcot-Marie-Tooth disease"

 
Am J Hum Genet ; 91(6):1095-102 ; December 2012
 
Distal hereditary motor neuropathy type 7: a SLC5A7 mutation suggests a role of choline transporter in idiopathic motor neuronopathies
 
Consult the PubMed abstract
 
To read more about "Distal hereditary motor neuropathy type 7"

 
Am J Hum Genet ; 91(6):1103-7 ; December 2012
 
Lissencephaly type 2: ISPD mutations associated with brain vascular defects and TMEM5 mutations linked with gonadal and tube neural defects
 
Consult the PubMed abstract
 
To read more about "Lissencephaly type 2"

 
Am J Hum Genet ; 91(6):1135-43 ; December 2012
 
Neurodegeneration with brain iron accumulation: WDR45 mutations causing a X-linked dominant form with early developmental delay and then neurological deterioration
 
Consult the PubMed abstract
 
To read more about "Neurodegeneration with brain iron accumulation"

 
Am J Hum Genet ; 91(6):1144-9 ; December 2012
 
Facioscapulohumeral dystrophy: type 2 is due to the effect of a SMCHD1 mutation on a D4Z4 allele permissive for DUX4 expression
 
Consult the PubMed abstract
 
To read more about "Facioscapulohumeral dystrophy"

 
Nat Genet ; 44(12):1370-4 ; December 2012
 
Sodium channelopathy-related small fiber neuropathy: identification of Nav1.8 (SCN10A) mutations that could contribute to distal neuropathic pain
 
Consult the PubMed abstract
 
To read more about "Sodium channelopathy-related small fiber neuropathy"

 
Proc Natl Acad Sci U S A ; 109(47):19444-9 ; November 2012
 
Familial visceral myopathy: the first predisposing mutation identified in ACTG2 in a family severely affected at small intestine level
 
Consult the PubMed abstract
 
To read more about "Familial visceral myopathy"

 
Gastroenterology ; 1482-1491.e3 ; December 2012
 
Autosomal recessive primary microcephaly: a CASC5 mutation introduces kinetochore in the group of microcephaly players
 
Consult the PubMed abstract
 
To read more about "Autosomal recessive primary microcephaly"

 
Hum Mol Genet ; 21(24):5306-17 ; December 2012
 
Marie Unna congenital hypotrichosis: a novel causative mutation found in EPS8L3
 
Consult the PubMed abstract
 
To read more about "Marie Unna hereditary hypotrichosis"

 
J Med Genet ; 49(12):727-30 ; December 2012
 
Ventricular septal defect: a GATA5 mutation identified in cases with subarterial VSD
 
Consult the PubMed abstract
 
Pediatr Cardiol ; September 2012
 
Isolated scaphocephaly: BMP2 and BBS9 plausible candidate genes
 
Consult the PubMed abstract
 
To read more about "Isolated scaphocephaly"

 
Nat Genet ; 44(12):1360-4 ; December 2012
 
Behcet disease: a non-HLA susceptibility locus detected in STAT4 that could induce harmfull inflammatory cytokines production when overexpressed
 
Consult the PubMed abstract
 
Arthritis Rheum ; 64(12):4104-13 ; December 2012
 
Fuchs endothelial corneal dystrophy: a trinucleotide repeat expansion found within TCF4 suggests a strong relationship with this kind of defect
 
Consult the PubMed abstract
 
To read more about "Fuchs endothelial corneal dystrophy"

 
PLoS One ; 7(11):e49083 ; 2012
 


 
Research in Action
 
Clinical Research
 
Becker muscular dystrophy: a single dose of tadalafil restores blood flow in muscle by boosting NO-cGMP signaling
 
Consult the PubMed abstract
 
To read more about "Becker muscular dystrophy"

 
Sci Transl Med ; 4(162):162ra155 ; November 2012
 
Idiopathic hypersomnia: hyper somnolence could be induced by a component of cerebrospinal-fluid of affected subjects
 
Consult the PubMed abstract
 
To read more about "Idiopathic hypersomnia"

 
Sci Transl Med ; 4(161):161ra151 ; November 2012
 
Neurofibromatosis type 1: imatinib mesylate for at least 6 months reduces tumors volume with variable results depending on the case
 
Consult the PubMed abstract
 
To read more about "Neurofibromatosis type 1"

 
Lancet Oncol ; 13(12):1218-24 ; December 2012
 
Graft versus host disease: injection of mensychymal stromal cells reduces dry eye symptoms by generating CD8+CD28− T cells
 
Consult the PubMed abstract
 
To read more about "Graft versus host disease"

 
Mol Ther ; 20(12):2347-54 ; December 2012
 
Fabry disease: migalastat hydrochloride corrects enzyme deficiency in a mutation-dependent manner
 
Consult the PubMed abstract
 
To read more about "Fabry disease"

 
Orphanet J Rare Dis ; 7:91 ; November 2012
 
Hereditary nonpolyposis colon cancer: resistant starch does not emulate the apparently protective effect of dietary fiber against colorectal cancer
 
Consult the PubMed abstract
Consult this study on Orphanet

 
To read more about "Hereditary nonpolyposis colon cancer"

 
Lancet Oncol ; 13(12):1242-1249 ; December 2012
 
Short bowel syndrome: proabsorptive and intestinotrophic effects of teduglutide reduces need for parenteral support in patients with intestinal failure
 
Consult the PubMed abstract
 
To read more about "Short bowel syndrome"

 
Gastroenterology ; 143(6):1473-1481.e3 ; December 2012
 
Intrahepatic cholestasis of pregnancy: ursodeoxycholic acid reduced pruritus, improves liver tests and might be beneficial for fetal outcome
 
Consult the PubMed abstract
 
To read more about "Intrahepatic cholestasis of pregnancy"

 
Gastroenterology ; 143(6):1492-501 ; December 2012
 
Allan-Herndon-Dudley syndrome: quasi-normal thyroid test, reduced hyper metabolism, weight loss and need for gastric tube feeding with DITPA
 
Consult the PubMed abstract
 
To read more about "Allan-Herndon-Dudley syndrome"

 
J Clin Endocrinol Metab ; 97(12):4515-23 ; December 2012
 
Philadelphia chromosome-positive leukemias: ponatinib has significant clinical activity in patients previously resistant to other tyrosine kinase inhibitors
 
Consult the PubMed abstract
 
To read more about "Acute lymphoblastic leukemia"
To read more about "Chronic myeloid leukemia"

 
N Engl J Med ; 367(22):2075-88 ; November 2012
 
Hereditary pheochromocytoma-paraganglioma: compared to SDHD mutations SDHB-mutations are associated with a higher risk however lower than hitherto evaluated
 
Consult the PubMed abstract
 
To read more about "Hereditary pheochromocytoma-paraganglioma"

 
J Med Genet ; 49(12):768-76 ; December 2012
 
Diseases induced by mitochondrial DNA mutations: a wide variety of pathologies
 
Consult the PubMed abstract
 
Nat Rev Genet ; 13(12):878-90 ; December 2012
 
Gene Therapy
 
Hemophilia A: neonatal FVIII gene replacement provides long-term correction and avoids immune responses in mice
 
Consult the PubMed abstract
 
To read more about "Hemophilia A"

 
Gene Ther ; 19(12):1166-76 ; December 2012
 
Wiskott-Aldrich syndrome: WASP gene transfer significantly improve denditric cell function in vitro and in a mouse model
 
Consult the PubMed abstract
 
To read more about "Wiskott-Aldrich syndrome"

 
Gene Ther ; 19(12):1150-8 ; December 2012
 
Hemophilia B: improved gene therapy with no thrombotic effects using transfer of an overactive factor IX in mice and dogs
 
Consult the PubMed abstracts
 
To read more about "Hemophilia B"

 
Blood ; 120(23):4517-20 ; November 2012
Blood ; 120(23):4521-3 ; November 2012
 
Therapeutic Approaches
 

 
Achondroplasia: the CNP analog BMN 111 induces significant recovery of bone growth and attenuates dwarfism phenotype in a mouse model
 
Consult the PubMed abstract
 
To read more about "Achondroplasia"

 
Am J Hum Genet ; 91(6):1108-14 ; December 2012
 
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure: protective role of an antiapoptotic in pigs
 
Consult the PubMed abstract
 
To read more about "Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure"

 
Gene Ther ; 19(12):1141-9 ; December 2012
 
Steinert myotonic dystrophy: inhibition of GSK3β improves muscle strength and reduces myotonia in the DM1 mouse model
 
Consult the PubMed abstract
 
To read more about "Steinert myotonic dystrophy"

 
J Clin Invest ; 122(12):4461-72 ; December 2012
 
Glycogen storage disease due to acid maltase deficiency: enzyme replacement more efficient in mouse when combined with the chaperone N-acetylcysteine
 
Consult the PubMed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Mol Ther ; 20(12):2201-11 ; December 2012
 
Familial dysautonomia: molecules able to rescue insufficient gene expression isolated from induced pluripotent stem cells of patients
 
Consult the PubMed abstract
 
To read more about "Familial dysautonomia"

 
Nat Biotechnol ; 30(12):1244-8 ; December 2012
 
Amyotrophic lateral sclerosis: decrease Dbr1 enzyme activity suppresses toxic neuronal accumulation of TDP-43 in human neuronal cells and in rat
 
Consult the PubMed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Nat Genet ; 44(12):1302-9 ; December 2012
 
Congenital hydrocephalus: rescuing NG2+PDGFR-α+ neural progenitor proliferation reduces ventricular volume in a mouse model
 
Consult the PubMed abstract
 
To read more about "Congenital hydrocephalus"

 
Nat Med ; 18(12):1797-804 ; December 2012
 
Angelman syndrome: motor dysfunction is due to a decreased tonic inhibition in cerebellar granule cells in mice
 
Consult the PubMed abstract
 
To read more about "Angelman syndrome"

 
Sci Transl Med ; 4(163):163ra157 ; December 2012
 
Duchenne muscular dystrophy: AAV-based shRNA silencing of NF-kB ameliorates muscle pathologies in mdx mice
 

 
To read more about "
Duchenne muscular dystrophy"


 
Gene Ther ; 19(12):1196-204 ; December 2012
 
Diagnostic Approaches
 

 
Limb-girdle muscular dystrophy: identification sometimes difficult due to few clinical, histological, and molecular specificities
 
Consult the PubMed abstract
 
To read more about "Limb-girdle muscular dystrophy"

 
Rev Neurol (Paris) ; 168(12):919-26 ; December 2012
 
Cystic fibrosis and proximal spinal muscular atrophy: early and reliable non-invasive prenatal diagnosis through analysis of circulating fetal trophoblastic cells
 
Consult the PubMed abstract
 
To read more about "Cystic fibrosis"
To read more about "Proximal spinal muscular atrophy"

 
Reprod Biomed Online ; 25(5):508-20 ; November 2012
 
Three reports on the potential of microarray and whole-genome sequencing for prenatal/perinatal diagnosis and stillbirth genomic analysis
 
Consult the PubMed abstracts
 
N Engl J Med ; 367(23):2175-84; 2185-93; 2226-32 ; December 2012
 
Renal or urinary tract malformation: nephrogenesis seems very sensitive to copy number variations
 
Consult the PubMed abstract
 
To read more about "Renal or urinary tract malformation"

 
Am J Hum Genet ; 91(6):987-97 ; December 2012
 
Primary sclerosing cholangitis and cholangiocarcinoma can be differentiated using urine proteomic analysis
 
Consult the PubMed abstract
 
To read more about "Primary sclerosing cholangitis"
To read more about "Cholangiocarcinoma"

 
Gut ; 62(1):122-30 ; January 2013
 
Nephronophthisis-associated ciliopathy: a robust and very cost-efficient mutation analysis method
 
Consult the PubMed abstract
 
To read more about "Nephronophthisis-associated ciliopathy"

 
J Med Genet ; 49(12):756-67 ; December 2012
 


 
Patient Management and Therapy
 
Bardet-Biedl syndrome: a practical genetics review
 
Read the article
 
To read more about "Bardet-Biedl syndrome"

 
Eur J Hum Genet ; 21(1):8-13 ; January 2013
 
Alport syndrome: an overview focusing on the roles of podocyte pathology and the extracellular matrix
 
Consult the PubMed abstract
 
To read more about "Alport syndrome"

 
Nat Rev Nephrol ; November 2012
 
Idiopathic and/or familial pulmonary arterial hypertension: although less dangerous today, pregnancy always carries substantial risks
 
Consult the PubMed abstract
 
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

 
Eur Respir J ; 40(4):881-5 ; October 2012
 
Fragile X syndrome: a review
 
Consult the PubMed abstract
 
To read more about "Fragile X syndrome"

 
J Clin Invest ; 122(12):4314-22 ; December 2012
 
Autoimmune and inflammatory diseases: intravenous immune globulin yesterday, today and tomorrow
 
Consult the Journal
 
N Engl J Med ; 367(21):2015-25 ; November 2012
 
Porphyria: advances in diagnosis and treatment
 
Consult the PubMed abstract
 
To read more about "Porphyria"

 
Blood ; 120(23):4496-504 ; November 2012
 
Pallister-Killian syndrome: several articles in the American Journal of Medical Genetics extend the phenotypic description and review associated genetic anomalies
 
Consult the table of contents
 
To read more about "Tetrasomy 12p"

 
Three Clinical Utility Gene Cards updates
 
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 three updates for Clinical Utility Gene Cards: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012
MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012
Ehlers–Danlos syndrome types I–VII and variants - update 2012

 


 
Orphan Drugs
 


 
Bullish about orphan drugs
 
The online financial-services company-Motley Fool encourages investing in orphan drugs as well as orphan drug developers. According to a recent Thomson Reuters study, the past decade has shown an exponential growth in revenue for orphan drugs compared to non-orphan drugs. Motley Fool, highlights the fast approval time: an average of 3.5 years for orphan drug approval compared to 5 years or more for non-orphan drugs, and the lack of competition due to the seven year exclusivity clause and the small number of manufacturers involved in orphan drug development, as some of the major reasons for the success of orphan drugs in the market. Annual cost for each patient for recently approved drugs such as Juxtapid, Gattex or Elaprase is not less than $300,000. On the downside some of the drugs may not be reimbursed, and hence prohibit access to a number of patients. All things considered, Motley Fool not only encourages investment in orphan drugs but also buying stock options in orphan drug developing companies. For further details
 
Regulatory News
 
12 positive opinions recommending orphan designation at the February 2013 COMP meeting
 

The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 12 positive opinions recommending orphan designation at the February 2013 COMP meeting for the treatment of:

• Hepatocellular carcinoma
• Chronic non-infectious uveitis
• Prevention of graft rejection following solid organ transplantation
• Sickle cell disease
• Niemann-Pick disease, type C
• Congenital antitrypsin deficiency
• X-linked juvenile retinoschisis
• Mantle cell lymphoma
• Systemic sclerosis
• Churg-Strauss syndrome
• Stargardt’s disease
• Neuronal ceroid lipofuscinosis type 2

For further details

 
Three orphan drugs approved by FDA in one month
 

Gleevec : the blockbuster gets more indications
The Food and Drug administration (FDA) has now approved Gleevec, a tyrosine kinase inhibitor, for the treatment of “..children newly diagnosed with Philadelphia chromosome positive (Ph+) acute lymphoblastic leukemia (ALL)”. Gleevec was initially approved in 2001 for the treatment of patients with accelerated or chronic phase Ph+ chronic myeloid leukemia, and is now a blockbuster drug indicated for several other conditions earning Novartis more than $4 billion in 2011. After a favourable safety and efficacy outcome in a clinical trial conducted by the Childrens Oncology group on high risk ALL children and young adults (> 1 year), Gleevec procured a paediatric indication. The study observed that out of the 50 patients, 70% “..did not experience death or relapse within 4 years” with a marked decrease in the number of deaths after prolonged treatment with Gleevec in combination with chemotherapy.
FDA press release
Learn more about Gleevec

Kynamro: an antisense drug accepted by FDA but refused by EMA's Committee of Human Medicinal Products
The second orphan drug approved by FDA in the past month is Kynamro, an antisense oligonucleotide that inhibits the metabolic precursor to low density lipoprotein cholesterol(LDL-C), human apolipoprotein B-100. LDL-C is highly upregulated in patients suffering from homozygous familial hypercholesterolemia (HoFH), a rare genetic condition. An antisense oligonucloetide is a single strand DNA that binds to the mRNA of the target, in this case human apolipoprotein B-100, and inhibits its translation to a protein, which in turn inhibits the production of LDL-C, total cholesterol, and non-high density lipoprotein-cholesterol (non HDL-C). Invented by Isis Pharmaceuticals, this drug is hailed to become one of the first commercially viable antisense drugs. It is marketed by Sanofi’s Genzyme and is priced lower than Juxtapid-another adjunct treatment for HoFH.
Although Kynamro has been approved by FDA, concerns about the safety of this drug has led to refusal of market authorisation by the Committee of Human Medicinal Products at the European Medicines Agency. Furthermore FDA has asked for “....four postmarketing studies for Kynamro: the development of a sensitive assay that binds double-stranded (ds) DNA; a study to assess for the presence of antibodies to ds-DNA in patients treated with Kynamro; a long-term registry of patients with HoFH to determine the long-term safety of Kynamro; and an enhanced pharmacovigilance program to monitor reports of malignancy, immune-mediated reactions, and hepatic abnormalities in patients treated with Kynamro”.
FDA press release
CHMP (EMA) statement for refusal of market authorisation
Learn more about Kynamro

Ravicti: orphan drug for urea cycle disorder management
Hypherion, a South San Francisco based company received its first FDA approval for the orphan drug Ravicti. Ravicti is approved as an adjunct treatment for the management of rare urea cycle disorders (UCDs). Patients suffering from UCDs lack the genes required for the enzymatic action required for the proper functioning of the urea cycle, leading to the accumulation of nitrogen which remains in the body as ammonia. This can be life-threatening as ammonia can travel to the brain and cause significant brain damage, coma or death. Taken 3 times a day, Ravicti can help dispose the excess ammonia in the body. In clinical trials it was observed that Ravicti was as effective as Buphenyl- another drug for UCD patients, in controlling ammonia levels for patients suffering from UCDs.
FDA press release
Learn more about Ravicti

 


 
Grants
 
Funds for developing mouse models of rare disease
 
Foundation rare diseases and national infrastructure PHENOMIN (ICS TAAM, CIPHE) have announced the launch of the call for joint research projects, murine models and rare diseases. Researchers interested in developing and characterising models murine - conditional knock-out (CKO), Knock-In (KI) and transgenic (TG) in the field of rare diseases, are encouraged to apply
Research projects must be submitted no later than Thursday, February 28, 2013
Consult the website for further information

 
Grant for rare disease research in adults
 
The Foundation for the Development of Internal Medicine in Europe (FDIME) has announced a "research grant for physicians (<38 years)". This is a 3 year grant that furnishes the researcher with 20,000 euros per year. Application deadline: 30 March 2013
For further details

 


 
Courses & Educational Initiatives
 



 
European Cytogeneticists Association Courses
 
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2013 course is now available.
For further details

 


 
What's on Where?
 

 
3rd Annual World Orphan Drug Congress
 
Date: 9-11 April 2013
Venue: Washington DC, USA

This event brings together industry, patient groups, payers and government seeking to expedite orphan drugs to patients.
For further details

 
First GENCODYS International Conference: Integrative Networks in Intellectual Disabilities
 
Date: 14-17 April 2013
Venue: Paphos, Cyprus

Proposed topics include: Cognitive disorders (CD): Phenotype-Genotype networks; gene identification, gene networks-complex inheritance; Linking CD genes and behavioural traits to neural networks; Disease mechanisms in CD – the synapse, gene regulation, epigenetic conditions, common pathways; therapeutic intervention.
For further details

 
International Rare Diseases Research Consortium Conference 2013
 
Date: 16-17 April 2013
Venue: Dublin, Ireland

IRDiRC will team up researchers and organisations investing in rare diseases research in order to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020.
For further details

 
World Federation of Hemophilia 13th International Musculoskeletal Congress 2013
 
Date: 18-21 April 2013
Venue: Chicago, USA

This Congress brings together world-leading orthopaedic surgeons, haematologists, and physiotherapists specialized in the treatment and care of patients with bleeding disorders. Participants will spend three days not only analyzing and discussing new medical developments but also looking at problems and issues in different parts of the world.
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

 
Autoinflammation 2013: 7th International Congress of the International Society of Systemic Auto-Inflammatory Diseases
 
Date: 22- 26 May 2013
Venue: Lausanne, Switzerland

The meeting will offer a unique opportunity to gather experts from all over the world to discuss the latest scientific and clinical issues on different topics, including the challenges of the new treatments for autoinflammatory diseases such as familial Mediterranean fever; new monogenic autoinflammatory diseases; systemic-onset JIA; Behçet; granulomatous diseases; amyloidosis; and other conditions.
For further details

 
4th International DSD (Disorders of Sex Development) Symposium
 
Date: 7-9 June 2013
Venue: Glasgow, Scotland

This symposium should be of interest to health care staff, clinical and basic scientists and parent & patient support groups. Plenary Sessions planned include: Priorities for the Future, Drug-based Therapeutic Interventions, Care & Communication, Navigating the Information Highway, Management of the Retained Gonad.
For further details

 
12 th European Symposium on Congenital Anomalies
 
Date: 12-14 June 2013
Venue: Zagreb, Croatia

Topics include 50 years after thalidomide therapy, Childhood morbidity and mortality due to congenital anomalies, Medication in pregnancy, Prevention of congenital anomalies, Prenatal diagnosis, Preconceptional and prenatal care, Environmental risks, Outcomes of children with a congenital anomaly, Public health policies, Genetics of congenital anomalies, Health care for children with congenital anomalies
For further details

 
World Orphan Drug Congress Asia
 
Date: 18 June 2013
Venue: Singapore

This one-day event will bring together orphan drug manufacturers and developers to expedite orphan drugs for patients.
For further details

 
6th International Conference on Children's Bone Health
 
Date: 22-25 June 2013
Venue: Rotterdam, Netherlands

The conference is to try to get a better understanding in healthy and disease states of bone development by discussing molecular pathways as well clinical characteristics.
For further details

 
9th European Cytogenetics Conference
 
Date: 29 June - 02 July 2013
Venue: Dublin, Ireland

An opportunity for cytogeneticists to come together to discuss developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
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

 
2nd Conference of 'EB-CLINET - Clinical Network of EB Centres and Experts
 
Date: 17-18 September 2013
Venue: Salzburg, Austria

The conference will present and discuss the work packages initiated during the 2012 EB clinet meeting.
For further details

 
Mitochondrial Disease: Translating biology into new treatments
 
Date: 2-4 October 2013
Venue: Cambridge, UK

This is a brand new conference that will discuss mitochondrial medicine. During this interactive conference several experts will speak about translational mitochondrial medicine. Abstracts are due by 16 July 2013 and the registration deadline is on 20 August 2013
For further details

 
Thalassemia International Federation World Congress
 
Date: 19-23 October 2013
Venue: Abu Dhabi, United Arab Emirates

Topics for this conference includes “all aspects of prevention, management and care of thalassemia and sickle cell disease and a one-day patient programme”.
For further details

 
First International Primary Immunodeficiencies Congress (IPIC)
 
Date: 7-8 November 2013
Venue: Estoril, Portugal
The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
For further details

 


 
Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
Orphanews International is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Paramita Chakraborty, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Divya Unni, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (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), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
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, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (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), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), András Becskeházi (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (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), Désirée 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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