28 February 2013 print
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The rare disease community around the globe join hands today for a better future
Today we commemorate 6 years of Rare Disease Day and once again rare disease communities around the world are joining hands to show solidarity and generate awareness. Rare Disease Day is coordinated by Eurordis with national alliances across 24 European countries and was celebrated by 63 countries worldwide in 2012. This year several new countries– including Bahrain, Iceland, Israel, Palestine and Singapore-will also be partipipating. For the past 6 years, this day has been a significant benchmark of how far we have come in our quest to help rare disease patients. It is also a day of reflection to acknowledge how much more can be achieved if we work collectively. In the spirit of global collaboration, the slogan this year “Rare disorders without borders” expresses the need for reaching across and sharing knowledge and resources to further the cause of the rare disease community.

This year's official video for Rare Disease Day 2013 has been received enthusiastically, with more than 13,000 views on youtube! Several people provided their services free of charce to produce this video which is available in 10 languages. Patient organisations featured in this video are members of the Associazione Italiana Sindrome di Noonan, Duchenne Parent Project and Xeroderma Pigmentosum Society. Other than participating in the events and activities organised by the rare disease community in your part of the world, you can also upload your story and photos on the Rare Disease Day website.

A prelude to the Rare Disease Day was the meeting in Brussels on 26 February 2013 where “Eurordis and Members of European Parliament Ms Antonyia Parvanova (Bulgaria) and Mr Cristian Silviu Buşoi (Romania) co-hosted a multi-stakeholder policy event to examine how different policy measures can help improve access to therapies for rare diseases”. This meeting precedes the vote in the plenary session of the Parliament for “EU Transparency Directive on medicinal products”. The participants highlighted “the need for transparency around pricing and reimbursement of medicinal products” and discussed how faster, more equitable access to medicines can be achieved.
Consult the official Rare Disease Day website


Spotlight on...
Save the date: The first International Rare Disease Research Consortium Conference in Dublin

The International Rare Diseases Research Consortium (IRDiRC) conference scheduled on 16-17 April 2013 in Dublin will be the premier venue for all rare disease stakeholders from around the globe to engage in stimulating discussions in an open environment that encourages you to think, learn, exchange views and network. This two day conference features keynote addresses and presentations by stalwarts in rare disease research from all over the world. Additionally, posters displaying results from research projects funded by IRDiRC members will be presented on Day 1.

After its launch in April 2011, IRDiRC has garnered significant support around the globe. To begin with, three projects of the IRDiRC flagship venture have been granted around 40 million euros under the European FP7 plan. The goal of IRDiRC is to assist in delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020. The conference in Dublin will play a substantial role in advancing to these goals.

Organised by the European Commission in association with the Irish presidency of the Council of the European Union, the IRDiRC conference registration is now open to the public.
Register now to be a part of the IRDiRC conference
Learn more about IRDiRC

EU Policy News

European Medicines Agency reports on small and medium sized enterprise related activities
European Medicines Agency (EMA) has continually promoted small and medium sized enterprises (SME) in their endeavour to produce quality medicinal products. They provide a number of financial and administrative incentives to SMEs to aid them in obtaining market authorisations for their medicinal product. A recent report published by EMA has shown that although the number of market authorisations for SME developed medicinal products have increased over the past 7 years; it is still lower than “the average for all applicant companies”. The number of companies registered as SME increased in 2012, among them 76% of the registered companies are “developing products for human use”. The report showed 28% of SMEs developing products for human use asked for scientific advice in 2012. Although this number is an increase from the previous year, EMA suggests that many SMEs would benefit from seeking scientific advice in an earlier stage of development. To increase the chances of market authorisations for SMEs, EMA “...encourages (SMEs) to approach the SME office to discuss the certification process and overall regulatory support available to them”. EMA plans to take many more steps in the coming years to support innovation by SMEs.
Learn More


National & International Policy Developments
Bioinformatics, Registries and Data Management
Characteristics of Niemann-Pick disease type C validated using registry
A recent article published in Orphanet Journal of Rare Disease reported on the data collected at enrolment to the Niemann-Pick disease type C (NP-C) registry. NP-C is a rare neurovisceral disease characterised by progressive neurodegeneration and premature death. This international registry includes “163 patients from centres across 14 European countries, Australia, Brazil and Canada and was initiated to describe the natural history, disease course, clinical outcomes and treatment experience of NP-C patients in clinical practice settings” This registry is also a part of the post-marketing inspection for the orphan drug miglustat. The participating sites reported a “high proportion of early-infantile and late-infantile onset patients had a history of neonatal jaundice, hepatomegaly and/or splenomegaly”. The authors believe that even though these symptoms are “often transient manifestations”, they are significant for a “possible diagnosis of NP-C in new born”. In addition the authors report that “neurological manifestations in this registry were in line with previous publications”. While VSGP was frequently observed across “all age-at-onset categories”, cataplexy and seizures were symptoms displayed by late-infantile and juvenile –onset patients. Cognitive impairment was consistently detected “across all age-at-onset categories”. The authors stress that “the data derived from this international NP-C registry cohort reported to date, provide a useful overall snapshot of patient and disease characteristics that can be considered alongside epidemiological data from previous cohort studies. Their findings confirm that systemic symptoms are common among patients with early-childhood onset of neurological symptoms but also with adolescents/adult onset”.
Consult the open access article

Screening and Testing
Rethinking responsibilities of clinicians in the new age of comprehensive testing
A study in European Journal of Medical Genetics described the views of two expert panels of professionals working in the field of assisted reproduction and/or genetics on the various complexities arising from the use of Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS). The procedure of PGD, where a 3-day old blastomere is removed and tested in vitro, was employed to “help couples with a known risk of transferring a severe genetic mutation to their offspring”. With recent advances in sequencing technology, where an entire genome can be sequenced from a single blastomere, it will soon be possible to choose an embryo “with the best possible outlook in life”. However, this generates further issues regarding the roles of couples and professionals in selecting the best embryo to transfer. From the discussions, it was clear that the expert panels “respect the autonomy of the couple”, but were also concerned as to how complex information about the results can be disseminated to the couples. The panel saw themselves in the role of facilitating choices for the couples, and counselling them about “possible outcomes” of the testing procedure, but believed that ultimately the choice of embryos lay with the couple. However, the panel also suggested the couples may not be able to grasp the “complexity of the possible outcomes of the tests” and hence may not be capable of making a choice. The panel were apprehensive about how questions and issues regarding comprehensive screening can be addressed, mainly “which conditions to test for and who should have the final say on which embryo to select”. They expressed concern over the “lack of a framework from which such questions can be answered”. In light of the advent of newer technologies and the different ethical dilemmas they bring, the authors urge further contemplation “on the different roles of all stakeholders and for the development of a general framework....to support individual choices of patients and caregivers”.
Consult the PubMed abstract

Do parents want to know the Cystic Fibrosis carrier status of their child?
The aim of this study published in European Journal of Medical Genetics was to evaluate the opinions of future parents on being informed about the Cystic Fibrosis (CF) carrier status of their child. This study was part of an extensive research initiative in the Netherlands to address two novel strategies for Newborn Screening for Cystic Fibrosis (NBSCF). Data was obtained using a focus group format, where expectant parents were first provided information “about CF, the newborn screening program, how carriers were identified and the consequences of being a carrier”, following which “the participants filled in a short questionnaire individually”. The authors report that although all parents agreed that they should be offered a choice on whether they want to be informed or not, a majority of parents (95%) wanted this information at their disposal. They provided varied explanations for this reasoning: “First, parents want to have the opportunity to test themselves for their carrier status to determine the risk for CF in subsequent pregnancies and to take well-informed reproductive decisions. Secondly, to inform their child because knowing the risk of being a carrier of CF may influence reproductive choices in his/her future. Third, the extended family members could be informed and decide whether or not they want to be tested.”
Consult the PubMed abstract

Countrywide study on providing Down syndrome screening for pregnant women in France
A countrywide French study published in the American Journal of Obstetrics and Gynecology evaluated the efficacy of maternal serum markers to detect Down syndrome for women who book late for maternity care. Under the French guidelines, Down syndrome screening is offered to every pregnant woman at a specific period of time during their pregnancy. These are “from 14+0 to 17+6 weeks for second-trimester screening and from 11+0 to 13+6 weeks for first trimester screening”. However, some pregnant women do not have an opportunity to avail of this facility at the stipulated time period. The authors note that about ”6.6% of pregnant women have their first prenatal visit during the second trimester and 1.2% during the third trimester, and therefore do not undergo prenatal screening. To combat this issue, "women of all ages were included in a Down syndrome screening using maternal serum markers alpha-fetoprotein (AFP)" from 2007 to 2012. The authors compared this screening group with the standard second trimester control group and reported “that late maternal serum screening is feasible with a good sensitivity/specificity compromise throughout gestation, and may be of clinical value in late-booking women.”
Consult the PubMed abstract


Ethical, Legal & Social Issues
Survey analysing support provided to rare disease families in Australia
An Australian study published in Orphanet Journal of Rare Diseases, examined the burden and needs of families with children affected by a rare disease. The authors provided a "pre-validated self-administered survey for parents/carer, to forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children's Hospital at Westmead, Sydney".
Similar to the results from the EurordisCare2 survey, this survey demonstrated that although most families were satisfied with the manner in which the child’s diagnosis was first disclosed, about 40% of families were displeased with the delay they experienced to receive the diagnosis. The authors note that “delay in diagnosis can have medical consequences such as a delayed treatment, unnecessary tests, and psychological stress for the family,...(indicating) a need for better education of health professionals”. The survey revealed that over 75% of the families reported significantly “high levels of psychological and financial stress”. Moreover, some families failed to receive any "psychological support following diagnosis”, indicating a serious and urgent “need for psychological support from mental health professionals, counselors or peer support groups”. Although the authors recognise the existence and support of patient groups such as Association of Genetic Support of Australasia and Genetic Alliance groups, they emphasize that there is “a lack of a coordinated approach to advocacy for people living with rare diseases in Australia”.
Interestingly, general practitioners (GP) were believed to play a pivotal role in management and care of patients by these families. The authors say that the GP’s themselves “have called for a systematic, primary-care approach to rare disease to assist them in managing patients and families, thereby reducing diagnostic delays, providing care coordination, and providing an extra avenue for access to psychological support”. In conclusion, the authors believe that this survey “demonstrates impacts on families and on health services in a small, well described group of Australian children diagnosed with a genetic metabolic disorder” and the insights obtained from this survey “could be applied across a spectrum of rare diseases”.
Consult the open access article

Website provides support to those undergoing predictive testing for Huntington Disease
An article published in Genetics in Medicine describes a “website that provides a reliable source of information to individuals at risk for the disorder and their loved ones, in addition to support and resources that may be useful when considering Predictive testing (PT) for Huntington Disease (HD)”. PT is a significant decision as it is “an irreversible decision of great consequence, with psychological and emotional implications”. It is very important that adequate psychological support is provided during this process. Since obtaining one-on-one genetic counselling and education is time consuming and expensive the website described by the authors appears as a good solution for people undergoing PT for HD. In addition, the authors also “used mixed-methods approach including a literature and existing resource review, and an interview study of those at risk for developing HD, followed by the development, pilot test, and modification of the website to ensure this educational resource would meet future users’ needs, this project involved”. The study reported that the subjects were mainly satisfied with the website and a preference for “narratives supported by empirical studies on patients’ needs and desires”. The interviewees reported a feeling of comfort when hearing stories of others and did not feel isolated. A need for a balanced approach and diversity of stories was also emphasised.
Consult the PubMed abstract


Orphanet News

Orphanet has just released its mobile application!

Available on iPhone and compatible with iPad, the first version of the Orphanet application gives access to main services of Orphanet (encyclopaedia of rare diseases, expert centres and emergency guidelines) in English and French. A second version will soon be available in more languages (German, Italian, Spanish and Portuguese). The Orphanet application is freely downloadable on the Apple store. Please do not hesitate to contact us for any feedback on the application (supportmobile.orphanet@inserm.fr).

Now available: comprehensive and updated list of orphan medicinal products

The latest addition to the Orphanet report series, Lists of medicinal products for rare diseases in Europe is now available. This exhaustive list has been compiled with the help of information on the European Medicines Agency and the DG health and consumers (DG Sanco) of the European Commission. The first part catalogues medicinal products with orphan drug designation that have been granted European marketing authorisation. It lists all the trade names of the medicinal products have been granted orphan designation in alphabetical order, along with date of market authorisation and the company holding the authorisation. The second part consists of authorised medicinal products that are intended to treat rare disease but do not have orphan designations. Notably, this list also underscores orphan medicinal products that have completed its 10 year market exclusivity period, allowing possible generics to enter the market. This report is also rich in other information such as the number of market authorisations for medicinal products per year as well as the number of authorisations within each ATC category.
For more information on orphan medicinal products on the Orphanet website
For more information on orphan medicinal products on the EMA website


New Syndromes

A new autoimmune disorder associating antibodies against DPPX, encephalitis and prodromal diarrhea
In four patients aged 45 to 76 years, the authors identified a new autoimmune disorder characterised by antibodies against DPPX in association with subacute and protracted encephalitis manifesting as signs of central nervous system hyperexcitability, i.e. agitation, confusion, hallucinations, myoclonus, tremor, and seizures. In three cases, the first symptoms included a prominent diarrhea lasting several weeks that may be explained by an important DPPX expression in the myenteric plexus as it is the case in the hippocampus and cerebellum. Examinations revealed a cerebrospinal fluid pleocytosis in all four patients. This pathology responds to immunotherapy however, if a substantial recovery is possible, the follow-up of three of these individuals shows that it occurs after prolonged hospitalisations and multiple relapses generally due to reduced immunotherapy.
Consult the PubMed abstract

Ann Neurol ; 73(1):120-8 ; January 2013
Chronic haemolysis and relapsing peripheral demyelinating neuropathy in five infants with CD59 deficiency
The authors examined five infants from four unrelated North-African Jewish families presenting with chronic haemolysis and inflammatory demyelinating polyradiculoneuropathy. Onset occurres between the ages of 3 and 7 months, generally after minor infectious, mainly viral illness. The principal symptoms are symmetric muscle weakness with hypotonia and absent tendon reflexes affecting the lower limbs rather than the arms. After a first attack lasting from days to weeks, a relapsing-remitting course is then observed, i.e. succession of acute or subacute episodes of weakness following intercurrent infections alternating with partial recovery of upper limb strength and function in a proximal to distal gradient. However, periods of recovery can not prevent a progressive muscle wasting in feet and hands and permanent areflexia with flaccid paralysis of the legs. As for haemolysis observed in these patients, it is Coombs-negative and follows a chronic course with paroxysmal episodes. The authors also noted increased cerebrospinal fluid protein level and demyelination with axonal damage. One patient died of acute respiratory failure at 3.5 years and, when the article was written, the oldest of four survivors was 5 years old. The same homozygous missense CD59 mutation leading to CD59 deficiency was found in all these infants.
Consult the PubMed abstract

Blood ; 121(1):129-35 ; January 2013

New Genes

Primary ciliary dyskinesia: CCDC114 mutations impair respiratory function and sometimes laterality, but does not appear to greatly affect fertility
Consult the PubMed abstracts
To read more about "Primary ciliary dyskinesia"

Am J Hum Genet ; 92(1):88-98 ; January 2013
Am J Hum Genet ; 92(1):99-106 ; January 2013
Distal arthrogryposis type 5: ECEL1 mutations involved in an autosomal recessive form without ophtalmoplegia
Consult the PubMed abstract
To read more about "Arthrogryposis with oculomotor limitation and electroretinal anomalies"

Am J Hum Genet ; 92(1):150-156 ; January 2013
Cowden syndrome: germline gain-of-function PIK3CA and AKT1 mutations found in 11% of patient without detected PTEN/SDHx/KLLN mutation/alteration
Consult the PubMed abstract
To read more about "Cowden syndrome"

Am J Hum Genet ; 92(1):76-80 ; January 2013
Opsismodysplasia: INPPL1 mutations found in cases with or without renal phosphate wasting
Consult the PubMed abstracts
To read more about "Opsismodysplasia"

Am J Hum Genet ; 92(1):137-43 ; January 2013
Am J Hum Genet ; 92(1):144-9 ; January 2013
Congenital stationary night blindness: LRIT3 mutations involved in an autosomal recessive complete form
Consult the PubMed abstract
To read more about "Congenital stationary night blindness"

Am J Hum Genet ; 92(1):67-75 ; January 2013
Isolated Klippel-Feil syndrome: homozygous truncating MEOX1 mutations associated with an autosomal recessive form
Consult the PubMed abstract
To read more about "Isolated Klippel-Feil syndrome"

Am J Hum Genet ; 92(1):157-61 ; January 2013
Hypotrichosis simplex: SNRPE mutations cause an autosomal dominant form
Consult the PubMed abstract
To read more about "Hypotrichosis simplex"

Am J Hum Genet ; 92(1):81-7 ; January 2013
Familial hypocalciuric hypercalcemia type 3: three different AP2S1 mutations involving solely the Arg15 residue disturb extracellular calcium homeostasis
Consult the PubMed abstract
To read more about "Familial hypocalciuric hypercalcemia type 3"

Nat Genet ; 45(1):93-7 ; January 2013
Vici syndrome: EPG5 mutations suggest a role of other genes involved in autophagy
Consult the PubMed abstract
To read more about "Vici syndrome"

Nat Genet ; 45(1):83-7 ; January 2013
Primary torsion dystonia: GNAL mutations induce a variable, predominantly cervical, phenotype
Consult the PubMed abstract
To read more about "Early onset torsion dystonia"
To read more about "Primary dystonia, DYT6 type"

Nat Genet ; 45(1):88-92 ; January 2013
Acute megacaryoblastic leukemia: chromosome 16 inversion encoding CBFA2T3-GLIS2 fusion protein defines a pediatric subgroup with poor outcome
Consult the PubMed abstract
To read more about "Acute megakaryoblastic leukemia"

Cancer Cell ; 22(5):683-97 ; November 2012
Neuroblastoma: ARID1A and ARID1B mutations associated with early therapy failure and decreased survival
Consult the PubMed abstract
To read more about "Neuroblastoma"

Nat Genet ; 45(1):12-7 ; January 2013
Atypical chronic myeloid leukemia: patients with SETBP1 mutations have higher white blood cell counts and worse prognosis compared to other cases
Consult the PubMed abstract
To read more about "Atypical chronic myeloid leukemia"

Nat Genet ; 45(1):18-24 ; January 2013
Tetralogy of Fallot: a GJA5 mutation found in two patients, one with the classic form, the other with pulmonary atresia
Consult the PubMed abstract
To read more about "Tetralogy of Fallot"

Eur J Hum Genet ; 21(1):69-75 ; January 2013
Postaxial polydactyly type A: a ZNF141 mutation transmitted in an autosomal recessive manner in a consanguineous family
Consult the PubMed abstract
To read more about "Postaxial polydactyly type A"

J Med Genet ; 50(1):47-53 ; January 2013
Congenital communicating hydrocephalus: MPDZ mutations identified in severe cases
Consult the PubMed abstract
To read more about "Congenital communicating hydrocephalus"

J Med Genet ; 50(1):54-8 ; January 2013
Childhood apraxia of speech: a predisposing 12p13.33 microdeletion suggesting a role of ELKS/ERC1
Consult the PubMed abstract
Eur J Hum Genet ; 21(1):82-8 ; January 2013
Axonal peripheral neuropathies: a possible role of HARS mutations
Consult the PubMed abstract
Hum Mutat ; 34(1):191-9 ; January 2013

Research in Action
Clinical Research

Tuberous sclerosis: everolimus is efficient against growth of subependymal giant cell astrocytomas
Consult the PubMed abstract
Consult this study on Orphanet

To read more about "Tuberous sclerosis"

Lancet ; 381(9861):125-32 ; January 2013
Familial hypertrophic cardiomyopathy: early screening of child relatives is relevant as well as follow-up of cases at risk for late form
Consult the PubMed abstract
To read more about "Familial hypertrophic cardiomyopathy"

Circulation ; 127(1):48-54 ; January 2013
Homozygous familial hypercholesterolemia: given in addition to lipid-lowering therapy, lomitapide reduces LDL-cholesterol and ApoB levels
Consult the PubMed abstract
To read more about "Familial hypercholesterolemia"

Lancet ; 381(9860):40-6 ; January 2013
Adult hepatocellular carcinoma: tivantinib can be second-line treatment for advance cases, particularly those with MET-high tumors
Consult the PubMed abstract
To read more about "Adult hepatocellular carcinoma"

Lancet Oncol ; 14(1):55-63 ; January 2013
Systemic-onset juvenile idiopathic arthritis: tocilizumab and canakinumab efficient on active forms but with safety profiles difficult to assess
Consult the PubMed abstracts
Consult the tocilizumab study on Orphanet
Consult the first canakinumab study on Orphanet
Consult the second canakinumab study on Orphanet

To read more about "Systemic-onset juvenile idiopathic arthritis"

N Engl J Med ; 367(25):2385-95 ; December 2012
N Engl J Med ; 367(25):2396-406 ; December 2012
Stem Cells

Proximal spinal muscular atrophy: improved phenotype and lifespan in mice treated with motor neurons derived from genetically corrected patients iPSCs
Consult the PubMed abstract
To read more about "Proximal spinal muscular atrophy"

Sci Transl Med ; 4(165):165ra162 ; December 2012
Amyotrophic lateral sclerosis: transplantation of multipotent NSCs into the spinal cords of a mouse model attenuates disease symptomatology and course
Consult the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

Sci Transl Med ; 4(165):165ra164 ; December 2012
Gene Therapy
Canavan disease: long-term follow-up after gene therapy shows decreased seizure frequency and clinical stabilization, and a need for very early treatment
Consult the PubMed abstract
To read more about "Canavan disease"

Sci Transl Med ; 4(165):165ra163 ; December 2012
Leber hereditary optic neuropathy: intravitreal injection of AAV-NDI1 significantly reduced retinal ganglion cells death and optic nerve atrophy in mouse
Consult the PubMed abstract
To read more about "Leber hereditary optic neuropathy"

Eur J Hum Genet ; 21(1):62-8 ; January 2013
Therapeutic Approaches

Charcot-Marie-Tooth disease type 1B: improved phenotype in mice treated with curcumin dissolved in sesame oil or formulated with phosphatidylcholine
Consult the PubMed abstract
To read more about "Charcot-Marie-Tooth disease type 1B"

Brain ; 135(Pt 12):3551-66 ; December 2012
Idiopathic and/or familial pulmonary arterial hypertension: preventive and curative effect of chemical chaperones attenuating endoplasmic reticulum stress
Consult the PubMed abstract
To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Circulation ; 127(1):115-25 ; January 2013
Glioblastoma : a bispecific antibody targeting tumor cells expressing EGFRvIII without the risk of cross-reactivity with normal tissues in vitro and in mice
Consult the PubMed abstract
To read more about "Glioblastoma"

Proc Natl Acad Sci U S A ; 110(1):270-5 ; January 2013
Duchenne muscular dystrophy: a recombinant Wnt7a protein stimulates regeneration of dystrophic muscles in a mouse model
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Proc Natl Acad Sci U S A ; 109(50):20614-9 ; December 2012
Duchenne muscular dystrophy: dantrolene enhances the efficiency of therapeutic exon skipping and improves muscle strength in mice
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Sci Transl Med ; 4(164):164ra160 ; December 2012
Diagnostic Approaches

Autosomal recessive nonsyndromic sensorineural deafness: a new approach could lead to a genetic diagnosis in 50% of cases
Consult the PubMed abstract
To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

Am J Med Genet A ; 161(1):145-52 ; January 2013

Patient Management and Therapy
Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
Read the article
To read more about "Inherited ichthyosis"

Eur J Hum Genet ; 21(2):123-33 ; February 2013
Acute angioedema: recognition and management in the emergency department
Consult the PubMed abstract
To read more about "Non-histaminic angioedema"
To read more about "Hereditary angioedema"

Eur J Emerg Med ; 20(1):10-7 ; February 2013
Familial lipoprotein lipase deficiency: a review on gene therapy with alipogene tiparvovec
Consult the PubMed abstract
To read more about "Familial lipoprotein lipase deficiency"

Expert Opin Biol Ther ; 13(1):7-10 ; January 2013
Hyperoxalurias: an update on current therapy and future strategies
Consult the PubMed abstract
To read more about "Primary hyperoxaluria"
To read more about "Primary hyperoxaluria type 1"
To read more about "Primary hyperoxaluria type 2"
To read more about "Primary hyperoxaluria type 3"

Expert Opin Investig Drugs ; 22(1):117-29 ; January 2013
Mesothelioma: focus on the systemic management of patients who are not considered suitable for surgical approaches and on new first or second-line therapies
Consult the PubMed abstract
To read more about "Mesothelioma"

Cancer Treat Rev ; December 2012
Syndromic diarrhea: a review
Consult the PubMed abstract
To read more about "Syndromic diarrhea"

Orphanet J Rare Dis ; 8:5 ; January 2013
Cardiac channelopathies: from mechanisms to management
Lien vers l’article via Pubmed
To read more about "Romano-Ward syndrome"
To read more about "Cardiodysrhythmic potassium-sensitive periodic paralysis"
To read more about "Timothy syndrome"
To read more about "Familial short QT syndrome"
To read more about "Arrhythmogenic right ventricular dysplasia"
To read more about "Brugada syndrome"

Circulation ; 127(1):126-40 ; January 2013
Mitochondrial DNA diseases: an overview of cardiac involvement
Consult the PubMed abstract
Eur Heart J ; 33(24):3023-33 ; December 2012
Glial tumors: molecular diagnostics and their implications in management of infantile forms
Consult the PubMed abstract
To read more about "Glial tumor"
To read more about "Glioblastoma"

Lancet Oncol. ; 14(1):e19-27 ; January 2013
Polycythemia vera: maintaining a haematocrit target of less than 45 significantly reduces rate of thrombotic complications
Consult the PubMed abstract
To read more about "Polycythemia vera"

N Engl J Med ; 368(1):22-33 ; January 2013
Retinopathy of prematurity: current, new, and potential therapies
Consult the Pubmed abstract
To read more about "Retinopathy of prematurity"

N Engl J Med. ; 367(26):2515-26 ; December 2012
Malignant atrophic papulosis: a review
Consult the PubMed abstract
To read more about "Malignant atrophic papulosis"

Orphanet J Rare Dis ; 8:10 ; January 2013

Orphan Drugs
Inherited ichthyoses/generalized Mendelian disorders of cornification: a practical genetics review
Read the article
To read more about "Inherited ichthyosis"

Eur J Hum Genet ; 21(2):123-33 ; February 2013
Regulatory News

Retinal implant for patients suffering from retinitis pigmentosa: approved by FDA
The Food and Drug Administration (FDA) has approved Second Sight’s Argus II Retinal Prosthesis System for the treatment of advanced retinitis pigmentosa. Retinitis pigmentosa is a debilitating rare genetic disease that affects about one in 4,000 people in the US and about 1.5 million people worldwide. The retina’s photoreceptors, the rod and cone cells convert light into electrical signals transmitted via the optic nerve to the brain’s visual cortex for processing. In patients suffering from RP these light sensitive cells die due to an unknown mechanism, leading to blindness in advanced stages. The retinal implant does not bring back vision but “allows (the patient) to detect light and dark in the environment” and thus perceive images and movement. The Argus II consists of a small video camera, a transmitter mounted on a pair of eyeglasses, a video processing unit and a 60-electrode implanted retinal prosthesis that replaces the function of the dead cells in the retina. The video processing unit transforms images from the video camera into electronic data that is then transmitted to the retinal prosthesis. This devise received a unanimous approval by the FDA’s Ophthalmic Devices Advisory Panel in September 2012 and the developers’ plans to use this technology to accommodate patients suffering from age-related macular degeneration, a similar but more common condition. However, competition is not far behind, as many companies are building similar “bionic eyes” with different technologies.

Partnersearch, Job Opportunities
Research Associate/ Postdoctoral Scientist: to lead on impact activities for EU network
Position open for dynamic scientist to work on the EU funded RD-Connect project. Candidates with PhD in relevant area (e.g. Genetics), high level of knowledge in Omics/translational research field, interest is healthcare and demonstrated experience in the industry are encouraged to apply. You will join an international, multidisciplinary team at the Newcastle Muscle Centre led by Professors Kate Bushby, Volker Straub and Hanns Lochmüller and situated within the Institute of Genetic Medicine at the International Centre for Life in Newcastle upon Tyne. Learn more

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

10th HHT Scientific Conference
Date: 12-15 June 2013
Venue: Cork, Ireland

HHT is a genetic disorder that causes abnormalities of blood vessels. The conference will include presentations on basic research on HHT to clinical research, drug development as well as policy issues.
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.
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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 The 9th European Cytogenetics Conference

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, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

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), Zsuzsanna Lengyel (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Annick Raas-Rotshild (Israel), 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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