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EURORDIS awards exceptional figures in the field of rare diseases
This year, at the 2nd Annual Black Pearl Gala dinner, organised by EURORDIS in Brussels at the Plaza Hotel, awards for “outstanding accomplishments in the field of rare diseases” were presented to stalwarts in the field of rare disease. These awards were presented on the eve of the 6th Rare Disease Day. All the recipients of the awards have been tireless in their pursuit to obtain rare disease patients the quality care they deserve. This award not only recognises their efforts but also reiterates future support for their work. From over 100 nominations, the EURORDIS Board of Directors voted on the recipients for this year’s awards. These awards cover the wide range of areas necessary to make a difference for rare disease patients- from individuals who have been relentless in their mission to patient organisations to policy makers and companies.

This year the Lifetime Achievement Award was presented to Former First Lady of Germany, Mrs Eva Luise Kohler, for her lifelong dedication and commitment to “address(ing) the needs of people living with a rare disease”. Following her persistent effort in Germany to create awareness for rare disease, public figures in other European countries have been inspired to follow her footsteps.
This year’s Patient Organisation Award went to Alstrom Syndrome UK which was founded by Kay Parkinson-an inspirational figure-who has been instrumental in the development of patient led NHS funded multi-disciplinary clinics for Alström Syndrome. Alström UK has led important initiatives in the field of rare disease in addition to being a partner in the Euro-WABB project, an EU Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes. Eurordis also recognises the critical role media plays in reaching out to the general public about the struggles of rare disease patients and garner their support. This year the Media award went to Andrew Jack of the Financial Times for his contributions towards dessiminating knowledge about the challenges faced by rare disease patients.
In the area of policy making, the Policy Maker Award was awarded to Françoise Grossetête and the European Rare Disease Leadership Award was awarded to Dr Ruxandra Draghia-Akli. As Member of the European Parliament, Françoise Grossetête has been highly influential in formulating several policy changes that address the needs of people living with rare diseases including regulations on Advanced Therapy Medicinal Products and the Cross Border Healthcare Directive. The award for European Rare Disease Leadership Award was received by Dr Ruxandra Draghia-Akli the Director for Health Research at the European Commission dedication and commitment in making sure that people living with rare diseases get their day in the sun. Dr Draghia-Akli is currently the chairperson of the International Rare Diseases Research Consortium (IRDiRC).
The Volunteer award was presented to Lesley Greene for her exceptional contributions as a volunteer for various initiatives benefiting the rare disease community. Ms Greene is currently the Vice-Chair of the Committee for Orphan Medicinal Products at the European Medicines Agency and Co-Founder and former Vice President of CLIMB.
EURORDIS awarded the Scientific Award to Orphanet’s very own Dr Ségolène Aymé for her “overall scientific excellence, promotion of European and International collaboration, and support of the patient community via Orphanet, the world’s leading reference portal for expert validated rare disease and orphan drug information”. Although retired from her position as Director of Orphanet, Dr Aymé is as active as before in her commitment towards rare disease stakeholders. She is the Chairperson of the European Committee of Experts on Rare Diseases (EUCERD), Scientific Secretariat of the International Rare Disease Research Consortium (IRDiRC), and Chair of the Topical Advisory Group for Rare Diseases for the revision of the International Classification of Diseases at the World Health Organisation and at the helm of activities and initiatives to help the rare disease community.
Genzyme (a Sanofi Company), Prosensa and Celgene were given the company awards for their contributions towards enhanced and innovative drug development for rare disease patients.

The event was also well attended by several important figures in the European community. It was co-chaired by Professor Milan Macek from Charles University in Prague and by Eric Emmanuel Schmitt the well-known dramatists, film director and philosopher. The range of honorary patrons included among many others Herman Van Rompuy, President of the European Council. Proceeds of this dinner will go towards creating greater awareness of rare diseases.
Go to the Eurordis website
Photo courtesy: Eurordis

Spotlight on...
French second national plan at mid-term: significant milestones achieved

The “Comité de suivi et de prospective” (Follow-up and prospective committee) of the second French National Plan for Rare Diseases held its annual meeting on the 19th of March. This meeting concluded that significant progress has been made to date which is in line with the objectives of the Second French National Plan.

The second plan delineated three main areas for action: research, health care delivery and action at European and International level. During this meeting progress in research and health care delivery was discussed in detail. However, due to lack of time, advancement in actions at European and International level was not discussed.

In the area of research, four new initiatives were planned, most of which have already been implemented. A significant development has been the setting up of a funding process to support Preclinical and Early Clinical Research. This is especially important as France provides sources of funding for basic research ( ANR: Agence Nationale de Recherche , financed by the Ministry of Research), and for academic clinical research (from the “programme hospitalier de recherche Clinique” financed by the Ministry of Health), but not for research projects that fall somewhere in between basic and clinical research. An annual call for proposals for translational research in health will be announced starting this year. Basic research for rare diseases was granted 113 Million Euros between 2005 and 2011, representing 327 projects over these 7 years. Clinical research received 9 million Euros (36 projects) in 2010, 8.3 Million Euros (23 projects) in 2011 and 8.5 Million Euros (21 projects) in 2012.
The second initiative was to set up a Foundation of scientific cooperation for public/private partnerships and to increase funding possibilities for research projects. To this end, the 'Fondation Maladies Rares’ was launched on the 7 February 2012 and has since shown accelerated development. The foundation was able to launch several calls to fund projects in the area of animal models and in social science for instance and its website also guides researchers to answering calls for proposals in France and EU.
The third initiative was to support the implementation of necessary sequencing infrastructures to allow researchers access to this technology which is revolutionising research in the field of rare diseases. A total of 34 hospitals received funds to obtain necessary equipments to provide at clinical sequencing services.
The fourth initiative was to establish a national rare diseases databank ( BNDMR: Banque Nationale de Données Maladies Rares) in order to have a central data repository on rare disease patients from various already existing sources, for health care planning and clinical research. The past months were dedicated to defining the minimum dataset the project was redesigned to be only a repository of data coming from the official centres of expertise designated at the time of the first plan and is expected to launch before the end of 2013 with the real national databank to be set up in the second phase.

In the area of health care delivery, several initiatives were foreseen in the plan. The first one was to propose solutions to the problem of the funding of genetic tests in France as most genetic tests are not eligible for reimbursement. As part of the first plan molecular genetics laboratories were identified as service providers and received a global annual budget for their activity. According to the second plan, the funding to be allocated is defined but implementation of this funding will probably take several years. This has made professionals anxious about managing their service without the proper financial support in the meantime.
The second initiative in this plan was improve the way centres of expertise are evaluated, to ease the reporting carried out by the centres and to create the tools for a real assessment on which to base decision on the renewal of the designation and on the allocation of funds. An annual reporting system is now defined after 2 years of solid effort by several working groups and should be tested this year.
The third initiative was to reorganize individual centres and group them in a functional way that maximises collaboration. A total of 23 groups have been defined, only 7 out of 131 centres of expertise do not fall in any of these groups.
The fourth initiative was to increase the number of national protocols for diagnosis and care ( PNDS: Protocole Nationaux de Diagnostic et de Soin). These protocols were identified in the first plan as defining the standard of care by disease, and listing all the acts and products to be reimbursed, including off label products. The methodology of production was developed by the HAS (Haute Autorité de Santé ) which was excellent, albeit too complicated to allow the publication of a sufficient number of protocols. To boost the production to 200 protocols in 4 years, the methodology has been simplified and the task to produce these protocols has been delegated to the centres of expertise.

One of the burning issue discussed during the meeting was the off-label use of drugs for treating rare diseases. A recent survey demonstrated that over 500 products are used off-label, especially in children with rare diseases. A recent French law makes it necessary to produce temporary use recommendations for these products where sponsors have to provide data to support the evidence that the product is both safe and efficient. Of course this is almost impossible for rare diseases as the existence of such data is modest and sometimes absent. The future for off-label drug use is uncertain but patients are already being denied reimbursement.

In conclusion, the second plan is well on the way and several initiatives delineated in the plan have already been implemented. The committee recognises that the year to come will be full of challenges as the rare disease community will have to prepare for the future in the context of a constrained budget but also to build on all the improvements resulting from the national plans.
Presentations from the meeting of Monitoring and Forecasting of the National Plan of rare diseases


EU Policy News

Transparency directive: meeting addresses faster access to medicines across EU
Preempting support for the slogan of the 2013 Rare Disease Day campaign "Rare Disorders without Borders", EURORDIS and Members of European Parliament Ms Antonyia Parvanova (Bulgaria) and Mr Cristian Silviu Busoi (Romania) co-hosted a multi-stakeholder policy event “to examine how different policy measures can help improve access to therapies for rare diseases”. The meeting which was attended by over 100 participants including several experts in the area of rare diseases.

European Member States are free to determine pricing and reimbursement policy for medicinal products. However, to ensure that national pricing and reimbursement decisions are made in a transparent manner, the European Commission proposes a "Directive of the European Parliament and of the Council relating to the transparency of measures regulating the prices of medicinal products for human use and their inclusion in the scope of public health insurance systems” repealing the Transperancy Directive (Council Directive 89/105/EEC). One of the objectives of this transparency directive, especially in the context of rare diseases, is to ensure that patients have equal and speedy access to medicines across Europe. For this purpose, in May 2012, the proposal was drafted and the amendments were adopted on 18 March 2013 by the European Commission.

The meeting in Brussels was held to discuss the proposed transperancy directive in the context of “the growing problem of unequal access to new medicines within the EU” and emphasised the need for transparency around pricing and reimbursement of medicinal products. . Co-host of this multi-stakeholder event, Rapporteur on the Transparency Directive Antonyia Parvanova (Environment, Public Health and Food Safety Committee) said that, "updated rules for a fair and transparent process on the pricing and reimbursement of medicines is to benefit all patients, and in particular the ones suffering from rare diseases. Availability and access to treatment is of crucial importance when we talk about rare diseases, and we should keep on upholding this principle throughout the upcoming legislative process. Our goal is to bring more transparency but also to support Member States for an efficient and evidence-based decision making process, which should ultimately support the sustainability of national healthcare systems, delivering for all."
EURORDIS Chief Executive Officer Yann Le Cam said “We are grateful to all the event participants for contributing their experience to the process of improving access to orphan medicinal products in Europe... and will hopefully move forward a faster and more equitable, transparent mechanism for bringing approved rare disease treatments to the market”.

The adoption of the amended proposal by the European Commission is an encouraging step towards obtaining more transparency and wider access of medicinal products. The European parliament will vote on the amendments and the first plenary reading is scheduled for May 2013. Depending on the progress of the plenary session and future negotiations, the law may be adopted by 2014 with a suggested deadline for transposition by Member States in 2015.
Read more on the Transperancy Directive


National & International Policy Developments
France publishes good practice guidelines for constitutional genetic testing for medical purpose

Two French agencies joined forces to issue guidelines in the complicated field of constitutional genetic testing for médical purposes: the "Agence de la Biomédecine" and the "Haute Autorité de Santé" in charge of health technology and medical practice assessment. The current document does not cover prenatal diagnosis, only post-natal genetic diagnosis. The purpose of the document is not to provide technical recommendations, which is of the responsibility of learned societies, but to define a framework assuring quality services to patients, in a field evolving rapidly from a technology point of view. The guidelines cover the prescription of the test, its performance and the report to be issued, whatever the technique used. They emphasise the importance of the adequate information to the patient and of his consent. They complement the legal provision from the Bioethics Law and respect guidelines and recommendations published by other organisations, such as the OECD, EuroGentest and the additional protocol on genetic tests of the Oviedo convention. The document is only available in French.
Consult the guideline on the HAS website
Reexamining health policy in Thailand and lessons from the west
An article published in Journal of Translational Medicine has analysed the current public policies in relation to advanced health technologies in Thailand. The authors believe that there are several unaddressed issues when it comes to current policies in improving advanced health technology. The authors have reviewed existing literature in advanced health biotechnologies and provides a series of recommendations for the Thailand Food and Drug Administration (TFDA) for advanced therapy health biotechnology. They also point-out the importance of setting up appropriate procedures at different levels of market authorisation and suggested several examples where U.S and Europe can be used as benchmarks for what can be achieved in Thailand.
Consult the PubMed abstract

Other European news
Children work together to understand and support rare disease patients

Children of Virgilio school in Rome worked for more than a year with the Bambino Gesù Children Hospital to try and understand the trials and tribulations of rare diseases patients. These primary and middle school children not only studied and researched rare diseases but they also wrote poems, created drawings in striking display of empathy and encouragement towards children suffering from rare diseases. They also produced a delightful short video with the help of their teachers that is shown above. This school project was aptly named “if you know them you’re not afraid of them”.

The children received a certificate of “young researchers” from Professor Bruno Dallapiccola, the Scientific Director of Bambino Gesù Children Hospital, Country Coordinator of Orphanet-Italy and representative of Italy at the EUCERD.
The Rare Diseases Clinic of the Bambino Gesù Children Hospital has been an immense support for children with rare diseases. In the last three years alone this clinic has taken care of over 14,000 children. The School in the Hospital caters to children who cannot attend regular school and they can attend end of year exams regularly. In 2012, there were more than 2500 pupils attending primary, middle and secondary classes.
Learn more about Bambino Gesu Hospital

I look for zebras because other doctors have ruled out all the horses
Declared Dr. Gregory House of the eponymous television show House, drawing attention to the popular expression of calling a rare disease diagnosis “a zebra” by the medical community. In an attempt to weed out the horses, Danish researchers have built FindZebra- a search engine designed exclusively for medical professionals to diagnose rare diseases. The builders of this search engine have recognised the shortcomings of Google search engine, which can yield several non-specific search results in response to a query. FindZebra is an open-source search technology, which uses curated, freely available medical information from sources such as the Online Mendelian Inheritance in Man database, the Genetic and Rare Diseases Information Center and Orphanet. The open-source retrieval tool Indri is used to search and the results are produced on the FindZebra website. The algorithm used to construct this website has been described in detail in a recent article by Dragusin et al. in International Journal of Medical Information. The layout of this website is simple, much like Google, with a search bar and basic information on the site. Entering the query, for eg., phenotype of a patient (flat nose, cleft palate, protineuria), into the search bar will result in 20 search results in descending order of most to least relevant. As emphasised on the website, this search engine is not for the general public but a resource only meant for medical professionals. It must also be noted that there are other search engines that cater to the rare disease community such as the Phenomizer
Consult the PubMed abstract

Other International News
Australian process for subsidised access to orphan drugs.

In an article published in Expert Opinion Orphan drugs, the author reviews the process for registering orphan drugs for inherited disorders of metabolism and providing access to subsidised therapy through a centralized national program in Australia. The federal government of Australia subsidises an extensive range of drugs under the Pharmaceutical Benefits Scheme (PBS). In addition, financial assistance under the Life Saving Drugs Program (LSDP) is made available for certain expensive drugs to treat, for instance rare inherited disorders of metabolism. The government provides funding each year for the LSDP, which especially subsidises prohibitively expensive drugs, beyond the reach of the patient and which significantly lengthens the life expectancy of the patient. In Australia, the Therapeutic Goods Administration (TGA) provides marketing authorisation for all drugs in Australia. Once a drug is registered by the TGA, an application can be made by the drug company to the Pharmaceutical Benefits Advisory Committee (PBAC) for the drug to be funded under LSDP instead of PBC. PBAC is an independent, expert advisory body that makes recommendations to the Federal Minister for Health and Ageing on which drugs should be listed for subsidies. PBAC is considered and expert body as it is “comprised of doctors, a health economist, other health professionals and a consumer representative” who collectively assess and provide advice on the efficacy of a drug to be funded under LSDP. The LSDP is also aided by the Disease Advisory Committee (DAC) for making disease specific assessment of the needs of the patients, for eg., patients suffering from rare metabolic disorders.

This streamlined procedure where expertise is centralised and “all Australian patients are managed and treated under the aegis of disease-specific specialist clinical advisory committee” is especially helpful in a large but population sparse country like Australia where rare disease patients are few and expert centers can be a great distance apart. However, the author emphasises that since only medications that "significantly lengthen" lives are funded under these schemes, rare diseases patients may not have the option to access available medications that may not necessarily augment life but may significantly improve their quality of life.
Consult the abstract

The process of obtaining a molecular diagnostic test approved and reimbursed in the US: advantages and pitfalls
A commentary in Science Translational Medicine describes the current process in the Medicare and Medicaid system reimbursement system in the US for molecular diagnostics and also provides some suggestions for its improvement. Due to current advancements in molecular diagnostics, it is considered a fast-growing research and development industry. Both the Food and Drug Adminstration (FDA) and (Centers for Medical and Medicaid Services) CMS play a crucial role in the development and commercialization of diagnostic tests. Both the FDA and CMS require diagnostic tests that qualify as medical devices to "provide a reasonable assurance of safety and effectiveness” for market authorisation and reimbursement respectively. However, due to changes in the healthcare system, the author says that “there are shifting evidentiary expectations create an environment that required increasingly costly generation of clinical evidence to meet different regulatory criteria yet does not provide the predictability, clarity or financial incentives for product developers to invest in the larger studies needed to meet the new evidentiary standards”. The authors believe that “the ultimate solutions to the regulatory and reimbursement dilemmas confronting molecular diagnostics may require sweeping statutory or regulatory changes”. However, due to the current political climate, where the Republican party have attempted to repeal the Universal Healthcare mandate 39 times and the depleting economic climate in the US.
The authors believe that currently there two innovative policy initiatives- Coverage and evidence development (CED) and parallel review that provides some respite to make sure the regulatory and reimbursement process is not stalled and the evaluation of innovative medical products continues in a smooth manner. CED allows CMS to provide temporary reimbursement for promising new technologies while additional clinical data are generated to better inform the agency’s longer-term coverage decision. According to the author, although molecular diagnostic tests are a prime candidate to apply to the CED, there are few roadblocks that can be addressed such as clarifying “the ability of CED to complement postmarketing requirements of FDA approvals, procedures and safeguards for local contractors to use CED, and be used within and abbreviated national coverage determinations (NCDs)”. The other process of parallel review where “CMS to begin its coverage determination process for new devices while they are being evaluated by FDA”, which was started in 2011 and this process is restricted to molecular diagnostics. Although this process appears to be good on paper, so far only one molecular diagnostic test has been approved through this process. The author believes making a few amendments to the parallel review process will make it more attractive. The amendments suggested by the author include “reconsider(ing) eligibility of molecular diagnostics cleared under 510(k), removing NCD requirement from initial stages of parallel review (and) provide incentives for use of parallel review”.
Consult the Journal

Guidance Documents and Recommendations
Huntington disease: best practice guidelines for the genetic testing
Consult the PubMed abstract
To read more about "Huntington disease"

Eur J Hum Genet. ; September 2012
Familial pancreatic carcinoma and Peutz-Jeghers syndrome: screening, surveillance and management of high-risk individuals
Consult the PubMed abstract
To read more about "Familial pancreatic carcinoma"
To read more about "Peutz-Jeghers syndrome"

Gut. ; 62(3):339-47. ; March 2013
Familial amyloid polyneuropathy: a guideline for clinicians
Consult the PubMed abstract
To read more about "Familial amyloid polyneuropathy"
To read more about "Transthyretin-related familial amyloid cardiomyopathy"

Orphanet J Rare Dis. ; 8:31. ; February 2013
Bioinformatics, Registries and Data Management
Mitoseek a website that enables extraction of mitochondrial DNA information
Due to advances in next generation sequencing a whole genome can be sequenced in a matter of days providing us with immense information on the genome. Also a significant amount sequenced DNA belong to the mitochondrial genome. Although unintentionally sequenced, this information can provide researchers “with unique opportunities to study the mitochondrial genome”. In order to help researchers study the mitochondrial genome effectively, researchers from Vanderbilt University have created of open-source software tool called MitoSeek, accessible at https://github.com/riverlee/MitoSeek. This unique genome analysis tool can “reliably and easily extract mitochondrial genome information from exome and whole genome sequencing data”. Researchers can get myriad types of information including ”mitochondrial genome alignment quality, estimates relative mitochondrial copy numbers, and detects heteroplasmy, somatic mutation, and structural variants of the mitochondrial genome’. Some drawbacks of this software include an ability calculate only relative mtDNA copy number, not absolute copy number of mtDNA and it is more suited “to detecting large copy number variation. Notwithstanding the drawbacks, MitoSeek is a unique software that “creates opportunities for high throughput mitochondrial sequencing data-mining from existing large exome sequencing databases. The algorithm used to construct this website and a short description has been published in detail in a recent article in Bioinformatics.
Consult the PubMed abstract

All's well that ends well thanks to genome wide linkage analysis
An article appearing in the European Journal of Human Genetics revealed a novel method of prenatal diagnosis by using genetic linkage analysis. In recessive diseases, without a known diagnostic test, a clinical geneticist may be able to inform the parents that there is a 25% risk of giving birth to an affected baby. However, even though there is a 75% chance of having a healthy baby, some parents may not be in a position to take that risk. The authors in this study have demonstrated that the usage of genetic linkage analysis can be highly beneficial to parents who are potentially at risk of giving birth to children with rare and unknown genetic syndromes. A mother of a consanguineous Kurdish family with 3 out of 5 children displaying “similar phenotype of a so far unknown genetic syndrome” was faced with an unplanned pregnancy. In order to identify if the foetus would also be affected the authors used genetic linkage analysis followed by prenatal testing of the maternal plasma. The disease-linked gene region was identified by using data from a genome-wide SNP scan for linkage analyses. It was observed that the unaffected members were not homozygous for this region and further information from affected members of the extended family allowed narrowing the risk region considerably. The authors established that the “disease-associated haplotype was identified as being involved in an unknown mental retardation syndrome”. They then ascertained if the foetus had a similar gene mutation using next generation sequencing on maternal plasma and after extensive finemapping, the authors predicted that the foetus would be unaffected. Subsequently, the mother was able to give birth to a healthy child. The authors believe that this technique is extremely helpful and monetarily feasible and emphasise on the need for better counselling for many families and an introduction of genome-wide linkage analysis into national guidelines.
Consult the PubMed abstract


Ethical, Legal & Social Issues
Huntingtons disease in Latin America: Factor H makes a case for improving the social and economic conditions of patients
A description of Factor-H, a humanitarian project for Huntington’s disease awareness in Latin America is provided in an article published in The Lancet Neurology. Founded by Ignacio Muñoz-Sanjuan (CHDI Foundation, Los Angeles, CA, USA), Factor-H is committed to improve the social conditions of Huntington’s disease in Latin America, who live in extreme “resource challenged” conditions, but ironically have also provided in-depth knowledge (particularly the Lake Maracaibo people of Venezuela) about Huntington’s disease. Due to the “genetic nature, and the history of colonisation of the continent, Huntington’s disease tends to appear in often fairly large and well-defined clusters” which were studied by Nancy Wexler that led to vital discoveries about Huntington’s disease. These include, the chromosomal location of the huntington gene, the CAG repeat nature of the disease mutation, and the involvement of unknown environmental factors. Factor-H believes that the Lake Maracaibo community could be a beneficial setting for clinical trials for drugs, but warn that the social and economic conditions of the Huntington’s disease have to improve, least of all to eliminate confounding environmental factors. According to them, “clinical trials are also important for evaluating pragmatic improvements in health management practices and interventions”. Ignacio Muñoz-Sanjuan also added that “aim of Factor-H should not, however, be confused with any science-based agenda,...but those working in Huntington’s disease science should not divorce themselves from the suffering of Latin America’s disease victims—people who have given so much and who have received so little in return”
Learn more Factor H

Specialised social services in Europe for rare disease patients
Therapeutic RecreationTherapeutic Recreation     Respite Care Services Respite Care Services     Respite Care ServicesAdapted Housing     Respite CareResource Centres

Eurordis now has a section of their website dedicated to Specialised Social Services for rare diseases patients that will be of great help to improve their health and quality of life as well as empowering them. As part of the Eucerd Joint Action (2012-2015), Eurordis is committed to helping rare disease patients to obtain access to “Specialised Social Services and Integration of Rare Diseases into Social Policies and Services”. For this purpose, Eurordis is performing a mapping exercise of the places that provide Specialised Social Services for rare disease patients in Europe as well as raising awareness about the significance and increasing need for such services. This is presented as a google map (see above) of the socialised services currently mapped by Eurordis which include, Therapeutic Recreation Programmes (TRP), Respite Care Services (RCS), Adapted Housing (AH), Resource Centres (RC). Apart from mapping these services Eurordis will also be involved in “address(ing) the issues concerning the training of the staff/volunteers working at these services” (Link to the EURORDIS Paper on "Rare Diseases: addressing the need for SSS and integration into social policies). This is a continuous exercise and you can also contribute to helping rare disease patients by providing suggestions of services available. (Email here).

The economic burden of Friedreichs Ataxia in Germany and UK
A recent article appearing in Orphanet Journal of Rare Diseases studied the burden of Friedreich’s Ataxia (FRDA) in U.K and Germany. FRDA is a debilitating neurodegenerative disorder that leads to significant impairment and consequently has a severe impact upon quality of life. Patients suffering from FRDA typically have a long duration of illness affecting most of their working life. This study conceded that the burden of FRDA is substantial and is shared broadly in society by “health and social care sectors, on society, on caregivers and on the individuals themselves. To identify the areas and impact of resource utilisation, data was collected from patients and caregivers in the UK and Germany where the participants completed a Patient and Caregiver Information Form (PCIF) on various aspects of living with FRDA or as a caregiver for a person suffering from FRDA. Additionally, doctors in Germany also completed a Patient Record Form (PRF). The authors determined the “annual direct and indirect resource utilization” in the U.K and Germany, which was deemed to be significant. The total annual cost per person of FRDA calculated in U.K was found to be between £11,818 and £18,774. The authors also concluded that the cost of FRDA was significantly higher than Parkinsons disease- a more common neurodegenerative disease, affecting mostly older adults. The authors assert that this is the first study analysing the burden of FRDA in the U.K and Germany. Although the authors note that “these figures may underestimate the true burden of the disease”, they hope that these approximate estimates can help in understanding the burden and making necessary changes to help ease it.
Read the open access article


New Syndromes

A mitochondrial infantile hypertrophic cardiomyopathy in two sisters with a MRPL44 mutation
Studying two sisters, the authors characterised a mitochondrial infantile hypertrophic cardiomyopathy associated with steatosis, myocardial and hepatic in one case, muscular and hepatic in the other one. One of these patients died at 6 months of age due to heart failure following an upper respiratory tract infection. The second sister was 14 years old when this article was written and asymptomatic since the age of 2. Biochemical analyses showed a combined deficiency of respiratory chain complexes I and IV in the heart and skeletal muscle and an isolated complex IV deficiency in fibroblasts. Thus the MRPL44 homozygous mutation founded in these sisters seems to disturb the respiratory chain in a tissue-specific manner.
Consult the PubMed abstract

J Med Genet ; 50(3):151-9 ; March 2013
ASXL3 mutations associated with a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome
The authors examined four unrelated children showing phenotypic similarities. Three had small size at birth, severe post-natal growth and psychomotor retardation, severe feeding difficulties, ulnar deviation of the hands, deep palmar creases, and specific facial characteristics among which arched eyebrows, high and narrow palate and anteverted nares. Less severe, the clinical features of the fourth patient notably include anteverted nares, deep palmar creases, mild hypotonia, and global developmental delay with intellectual disability. Only available on one case, brain imaging reveals global mild white matter loss. The clinical signs of these patients resemble those observed in Bohring-Opitz syndrome (BOS). However all carry a de novo truncating ASXL3 mutation when it is not the case of a small cohort of BOS patients without causative ASXL1 mutation, the anomaly associated with this syndrome. The authors thus conclude that they are describing a new pathology.
Consult the PubMed abstract

Genome Med ; 5(2):11 ; February 2013
Brain dopamine-serotonin vesicular transport disease: a new monoamine disorder amenable to treatment and linked to an SLC18A2 mutation
In eight children of an extended consanguineous family from Saudi Arabia, the authors describe a disease featuring infantile-onset movement disorder (including severe parkinsonism and nonambulation), mood disturbance, autonomic instability, and developmental delay. Genetic analyses revealed a homozygous mutation in SLC18A2, a gene encoding VMAT2 (vesicular monoamine transporter 2), a protein which translocates dopamine and serotonin into synaptic vesicles. Genotype determination of more than 80 family members confirmed a distribution of this mutation in accordance with an autosomal-recessive transmission. In vitro studies showed that this mutation (P387L) results in severe, but not complete, loss of function. Serum tests in the proband did not detect any abnormality, nor did CSF analysis in one of her younger affected siblings, but urinary testing revealed elevated monoamine metabolites and decreased levels of monoamines. Treatment with levodopa-carbidopa in the proband and her three affected siblings was associated with worsening, whereas treatment with a direct dopamine agonist (pramipexole) was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development. It seemed that the younger the affected child at treatment onset, the more substantial the recovery. Although close to aromatic L-amino acid decarboxylase (AADC) deficiency, the disease described in this article differs by several features, among which greater improvement upon treatment with dopamine agonists, a worsening of symptoms – rather than a lack of response – after levodopa administration, and no improvement with vitamin B6 treatment.
Consult the PubMed abstract

N Engl J Med. ; 368(6):543-50 ; February 2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to a new childhood-onset multisystem neurodegenerative syndrome
The authors present three siblings from a consanguineous family originating from Turkey with a previously unreported syndrome encompassing childhood onset blindness, cerebellar ataxia, nystagmus, spinal dorsal columns dysfunction, and spasticity with upper motor neuron dysfunction. After reaching early developmental milestones normally, these patients began experiencing vision loss at around 5 years of age, and then suffered slowly progressive neurological problems. After three decades, all had developed blindness, inability to stand without assistance, nystagmus, and titubation. The authors identified a novel homozygous missense mutation affecting the ubiquitin binding domain of UCHL1. Mutated UCHL1 exhibited at least sevenfold reduced affinity for ubiquitin, and a near complete loss of hydrolase activity, resulting in a >100-fold reduction in its efficiency. A different, dominant, UCHL1 mutation was deemed responsible for parkinsonism in one German family in a 1998 publication; in the family presented in this new article, neither the patients homozygous for the new UCHL1 variant nor their heterozygous parents or siblings exhibited parkinsonian features.
Consult the PubMed abstract

Proc Natl Acad Sci U S A. ; 110(9):3489-94 ; February 2013
Mutations in C12orf57 cause a recessive disease spectrum encompassing corpus callosum anomalies and colobomatous microphthalmia
Two simultaneously published articles describe patients with mutations in C12orf57, a poorly known gene expressed in many tissues including the brain. All these patients have developmental delay/intellectual disability, and most of them suffer from epilepsy.

The first group studied five patients, among whom four siblings born to consanguineous parents, all of five with profound global developmental delay and infancy/early childhood-onset epilepsy. Two siblings and the child from the second family are affected by bilateral colobomatous microphthalmia. A brain MRI was performed in all these patients, revealing corpus callosum abnormalities in three of the siblings: agenesis in two and hyperplasia in one of them. The fourth affected sibling has neither microphthalmia nor corpus callosum anomaly; hypertonia is reported in this child and in his oldest affected brother. The authors identified a homozygous truncating mutation in C12orf57 [c.1A>G; p.Met1?] in the siblings, and compound heterozygosity for the same mutation and another missense mutation in the simplex case.

The second group performed exome sequencing in families featuring corpus callosum hypoplasia as isolated or major anomaly, with likely recessive genetic origin. They found the same homozygous c.1A>G mutation in C12orf57 in four different consanguineous families, and describe ten cases in these four families. Moderate to severe intellectual disability/developmental delay and autistic features are reported in all of these patients. Clear and specific abnormalities of the corpus callosum, within the spectrum of hypoplasia to agenesis, were found in the eight cases in whom brain MRI was performed. Various forms of epilepsy are noted in eight patients, and hypotonia is also reported in eight (not necessarily the same cases). One of the patients displays left microphthalmia with retinal/iris coloboma, and three others present evidence of abnormal visual function (with documented optic atrophy, abnormal visual evoked potential, or esotropia).

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Am J Hum Genet. ; 92(3):387-91; 392-400 ; March 2013
A novel form of corneal intraepithelial dyskeratosis, linked to an NLRP1 mutation
The classical form of corneal intraepithelial dyskeratosis affects members of a Native American tribe. It is called hereditary benign intraepithelial dyskeratosis (HBID), and associated with a 4q35 duplication. Here the authors report a new form of corneal intraepithelial dyskeratosis in a 6-year-old boy and his mother, from a caucasian French family. The boy presented with bilateral complete corneal opacification and dyskeratosis. Palmoplantar hyperkeratosis and laryngeal dyskeratosis are associated with the phenotype. Histopathology studies of cornea and vocal cord biopsies showed dyskeratotic keratinisation. A 4q35 duplication was ruled out, and using next generation sequencing, the authors discovered a novel missense mutation, M77T, in NLRP1. This mutation was de novo for the mother, and predicted to affect protein function. Different features distinguish these two new cases from classic HBID cases, among which a more severe corneal involvement in the boy and in his mother, and for the mother a later disease onset (adulthood).
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J Med Genet. ; 50(4):246-54 ; April 2013
A novel microdeletion syndrome at 9q21.13 characterised by intellectual disability, speech delay, epilepsy and recognisable facial features
The authors investigated nine patients with 9q21 deletions and compared them with four patients previously reported in the DECIPHER database. Genotype-phenotype comparisons of the 13 patients revealed several common major characteristics including significant developmental delay, epilepsy, neurobehavioural disorders (autistic behaviour in most of them) and recognisable facial features including hypertelorism, feature-less philtrum, and a thin upper lip. Deletions have different breakpoints and are of variable lengths, and the 750 kb smallest overlapping deleted region includes four genes, among which RORB is a strong candidate for a neurological phenotype.
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Eur J Med Genet. ; 56(3):163-70 ; March 2013
An MLL3 germline mutation found in a pedigree of colorectal cancer and acute myeloid leukaemia
The authors briefly report on a Chinese family with colorectal cancers in the great-parents generation (three out of three siblings affected) and acute myeloid leukaemia in the children generation (two out of two siblings affected). Exome sequencing in four of these patients identified a heterozygous mutation in MLL3, leading to a premature truncation at codon 827. MLL3 mutations were recently found in different types of cancer. The newly discovered mutation seems to be the first germline mutation identified in a cancer pedigree.
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Blood. ; 121(8):1478-9 ; February 2013

New Genes

Familial or sporadic hemiplegic migraine included in the paroxysomal disorders that can be due to PRRT2 mutations
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To read more about "Familial or sporadic hemiplegic migraine"

Neurology ; 79(21):2122-4, 2115-21 ; November 2012
Dev Med Child Neurol ; 54(10):958-60 ; October 2012
Autosomal recessive spastic paraplegia type 46: GBA2 mutations create a link with glucosylceramide metabolism
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To read more about "Autosomal recessive spastic paraplegia type 46"

Am J Hum Genet ; 92(2):238-244 ; February 2013
Autosomal recessive cerebellar spastic ataxia: a likely role of GBA2 mutations
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To read more about "Autosomal recessive cerebellar ataxia"

Am J Hum Genet ; 92(2):245-51 ; February 2013
Metaphyseal dysplasia - maxillary hypoplasia – brachydacty: a link with apparently gain-of-function RUNX2 mutations
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To read more about "Metaphyseal dysplasia - maxillary hypoplasia - brachydacty"

Am J Hum Genet. ; 92(2):252-8 ; February 2013
Ochoa syndrome can be due to mutations of the LRIG2 gene also mutated in some nonsyndromic vesicoureteral reflux
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To read more about "Ochoa syndrome"

Am J Hum Genet. ; 92(2):259-64. ; February 2013
Anophthalmia – microphthalmia: ALDH1A3 mutations in a recessive form possibly in association with orbital cysts, autism and cardiac anomalies
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To read more about "Isolated anophthalmia - microphthalmia"

Am J Hum Genet. ; 92(2):265-70 ; February 2013
Tubular aggregate myopathy: identification of STIM1 mutations giving it a constitutive activation
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To read more about "Tubular aggregate myopathy"

Am J Hum Genet. ; 92(2):271-8. ; February 2013
Hypocalcified amelogenesis imperfecta: SLC24A4 mutations can disturb enamel formation
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To read more about "Amelogenesis imperfecta"

Am J Hum Genet. ; 92(2):307-12. ; February 2013
Schizencephaly: COL4A1 mutations in patients showing a variety of associated anomalies
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To read more about "Schizencephaly"

Ann Neurol. ; 73(1):48-57 ; January 2013
Autosomal recessive nonsyndromic sensorineural deafness type DFNB: proven role for SYNE4 gene, suspected role for SUN1 gene
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To read more about "Autosomal recessive nonsyndromic sensorineural deafness type DFNB"

J Clin Invest. ; 123(2):740-50 ; February 2013
Benign familial infantile seizures: a KCNQ3 mutation found in one family out of 29 studied
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To read more about "Benign familial infantile seizures"

Epilepsia. ; 54(3):425-36. ; March 2013
Mutilating palmoplantar keratoderma with periorificial keratotic plaques: an MBTPS2 mutation involved in an X-linked form
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To read more about "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"

J Invest Dermatol. ; 133(2):571-3 ; February 2013
Meckel syndrome can result from TMEM231 mutations as Joubert syndrome does
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To read more about "Meckel syndrome"

J Med Genet. ; 50(3):160-2. ; March 2013
Dysequilibrium syndrome: a missense mutation in ATP8A2 found in one family affected by this severe neurological phenotype
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To read more about "Dysequilibrium syndrome"

Eur J Hum Genet. ; 21(3):281-5. ; March 2013
Isolated CoQ-cytochrome C reductase deficiency: UQCRC2 mutations in patients with neonatal onset of hypoglycaemia, lactic acidosis, ketosis, and hyperammonaemia
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To read more about "Isolated CoQ-cytochrome C reductase deficiency"

Hum Mutat. ; 34(3):446-52. ; March 2013
Retinitis pigmentosa: RP1L1 mutations cause an autosomal recessive form
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To read more about "Retinitis pigmentosa"

Hum Mutat. ; 34(3):506-14. ; March 2013
Glomerular microangiopathy: DGKE mutations in a membranoproliferative-like form with endothelial distress
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J Am Soc Nephrol. ; 24(3):377-84. ; February 2013
Severe early-onset progressive myoclonic epilepsy with dystonia: a TBC1D24 mutation saving one of the four known isoforms
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J Med Genet. ; 50(3):199-202. ; March 2013
Congenital diaphragmatic hernia: recessive FREM1 mutations can cause the isolated form
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To read more about "Congenital diaphragmatic hernia"

Hum Mol Genet. ; 22(5):1026-38. ; March 2013
Male infertility: NANOS1 mutations linked with two phenotypes, SCOS (Sertoli cell only syndrome) and severe oligo-astheno-teratozoospermia
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J Med Genet. ; 50(3):187-93. ; March 2013
Cleft lip with or without cleft palate: germline CDH1 mutations increase the risk of the nonsyndromic form
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To read more about "Cleft lip with or without cleft palate"

Hum Mol Genet. ; 22(5):919-26. ; March 2013
Lissencephaly belongs to the group of cortical malformations that can be due to TUBB2B and TUBA1A mutations
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To read more about "Lissencephaly"

Brain. ; 136(Pt 2):536-48. ; February 2013
Trismus – pseudocamptodactyly: a TPM2 mutation found in four families expands the spectrum of β-tropomyosin-related myopathies
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To read more about "Trismus - pseudocamptodactyly"

Brain. ; 136(Pt 2):508-21. ; February 2013
Dystroglycanopathies: recessive mutations in B3GALNT2 cause variable phenotypes ranging from severe WWS to milder variants, all associated with brain involvement
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To read more about "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan"
To read more about "Walker-Warburg syndrome"

Am J Hum Genet. ; 92(3):354-65 ; March 2013
Lissencephaly type 2: homozygous mutations in LAMB1 responsible for cobblestone brain malformation without overt muscular or ocular abnormalities in two families
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To read more about "Cobblestone lissencephaly"

Am J Hum Genet. ; 92(3):468-74 ; March 2013
Blepharophimosis-intellectual deficit syndrome, MKB type: mutations in MED12 are the underlying cause of this X-linked form
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To read more about "Blepharophimosis-intellectual deficit syndrome, MKB type"

Am J Hum Genet. ; 92(3):401-6 ; March 2013
Oculocutaneous albinism: mutations in C10orf11, a melanocyte-differentiation gene, identified
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To read more about "Oculocutaneous albinism"

Am J Hum Genet. ; 92(3):415-21 ; March 2013
Autosomal dominant intermediate Charcot-Marie-Tooth disease: GNB4, encoding guanine-nucleotide-binding protein subunit beta-4, is mutated in a family and in a sporadic case
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To read more about "Charcot-Marie-Tooth disease"

Am J Hum Genet. ; 92(3):422-30 ; March 2013
X-linked Charcot-Marie-Tooth disease: a mutation in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene causes a specific subtype (CMTX6) in a family
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To read more about "X-linked Charcot-Marie-Tooth disease"

Hum Mol Genet. ; 22(7):1404-16 ; April 2013
Autosomal dominant macrothrombocytopenia: ACTN1 mutations responsible in moderate cases with anisocytosis, either asymptomatic or with a modest bleeding tendency
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To read more about "Autosomal dominant macrothrombocytopenia"

Am J Hum Genet. ; 92(3):431-8 ; March 2013
Dyskeratosis congenita: mutations in RTEL1, a gene essential in telomere maintenance, found in one case and in several cases with the Hoyeraal-Hreidarsson variant
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To read more about "Hoyeraal-Hreidarsson syndrome"
To read more about "Dyskeratosis congenita"

Am J Hum Genet. ; 92(3):448-53 ; March 2013
Hum Genet. ; 132(4):473-80 ; April 2013
Autosomal dominant nonsyndromic sensorineural deafness type DFNA: a defect in P2RX2 leads to progressive hearing loss and increased susceptibility to noise
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To read more about "Autosomal dominant nonsyndromic sensorineural deafness type DFNA"

Proc Natl Acad Sci U S A. ; 110(6):2228-33 ; February 2013
Craniosynostosis: mutations in TCF12, encoding a partner of TWIST1, are a frequent cause of coronal craniosynostosis
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To read more about "Craniosynostosis"
To read more about "Isolated plagiocephaly"
To read more about "Isolated brachycephaly"
To read more about "Saethre-Chotzen syndrome"

Nat Genet. ; 45(3):304-7 ; March 2013
Craniosynostosis: heterozygous loss-of-function mutations in ERF identified in generally complex and syndromic cases
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To read more about "Craniosynostosis"
To read more about "Crouzon disease"
To read more about "Isolated scaphocephaly"

Nat Genet. ; 45(3):308-13 ; March 2013
Primary ciliary dyskinesia: loss-of-function mutations in CCDC164, encoding the nexin-dynein regulatory complex subunit DRC1, at cause in four patients
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To read more about "Primary ciliary dyskinesia"

Nat Genet. ; 45(3):262-8 ; March 2013
Familial multiple meningioma: heterozygous loss-of-function mutations in SMARCE1 found responsible in families with spinal tumours
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To read more about "Familial multiple meningioma"

Nat Genet. ; 45(3):295-8 ; March 2013
Autosomal dominant medullary cystic kidney disease with or without hyperuricaemia: the type 1 is due to mutations in MUC1 missed by massively parallel sequencing
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To read more about "Autosomal dominant medullary cystic kidney disease with or without hyperuricemia"

Nat Genet. ; 45(3):299-303 ; March 2013
Congenital myasthenic syndromes: ALG2 and ALG14 are new causal genes, which underscores the importance of N-linked protein glycosylation and suggests treatment
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To read more about "Congenital myasthenic syndromes"

Brain. ; 136(Pt 3):944-56 ; March 2013
Leigh syndrome: a homozygous mutation in SLC19A3 as a new cause of early-childhood disease in which thiamine can improve life expectancy
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To read more about "Leigh syndrome"

Brain. ; 136(Pt 3):882-90 ; March 2013
Familial melanoma: a disease-segregating germline mutation in TERT promoter identified in a family
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To read more about "Familial melanoma"

Science. ; 339(6122):959-61 ; February 2013
Adult neuronal ceroid lipofuscinosis: recessive mutations in CTSF (encoding cathepsin F) responsible in two families and one simplex case
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To read more about "Adult neuronal ceroid lipofuscinosis"

Hum Mol Genet. ; 22(7):1417-23 ; April 2013
Leber congenital amaurosis: GDF6 mutations identified in a typical case and in three cases diagnosed with “LCA/juvenile retinitis pigmentosa”
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To read more about "Leber congenital amaurosis"

Hum Mol Genet. ; 22(7):1432-42 ; April 2013
Amelogenesis imperfecta – nephrocalcinosis: FAM20A is a major causal gene, and patients showing only amelogenesis imperfecta may also suffer from nephrocalcinosis
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To read more about "Amelogenesis imperfecta - nephrocalcinosis"

Nephron Physiol. ; 122(1-2):1-6 ; February 2013
PLoS Genet. ; 9(2):e1003302 ; February 2013
Behcet disease: identification of three new independent susceptibility loci in the HLA region, and precision on the so-called HLA-B*51 association
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To read more about "Behcet disease"

Nat Genet. ; 45(3):319-24 ; March 2013
Acute promyelocytic leukaemia: a novel fusion gene, OBFC2A-RARA, found in one patient
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To read more about "Acute promyelocytic leukemia"

Blood ; 121(8):1432-5 ; February 2013
Dubowitz syndrome: novel compound mutations in the DNA ligase IV gene (LIG4) identified in one case
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To read more about "Dubowitz syndrome"

PLoS One. ; 8(1):e54389 ; 2013
Brugada syndrome: TRPM4 channel mutations at cause in 20 patients and SLMAP variants pointed in two other cases
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To read more about "Brugada syndrome"

PLoS One. ; 8(1):e54131 ; 2013
Circ Arrhythm Electrophysiol. ; 5(6):1098-107 ; December 2012
Familial long QT syndrome: de novo mutations in CALM1 and CALM2 responsible in four children with very early onset life-threatening disease
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To read more about "Familial long QT syndrome"

Circulation. ; 127(9):1009-17 ; March 2013
Multifocal white matter lesions: the D313Y mutation of alpha-galactosidase A gene (GLA), formerly considered as nonpathogenic, found implicated in a family
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PLoS One. ; 8(2):e55565 ; 2013
Childhood apraxia of speech: a possible association with 16p11 copy number variations
Consult the first article abstract in PubMed
Access the second article via Pubmed

Eur J Hum Genet. ; 21(4):455-9; 21(4):361-5 ; April 2013

Frontonasal dysplasia: first report of a dominant ALX4 mutation, identified in a boy and his mother both with mild phenotype
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To read more about "Frontonasal dysplasia"

Am J Med Genet A. ; 161(3):600-4 ; March 2013

Research in Action

Tuberous sclerosis and lymphangioleiomyomatosis: everolimus reduced angiomyolipoma volume with an acceptable safety profile in a phase 3 trial
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Consult this study on Orphanet

To read more about "Tuberous sclerosis"
To read more about "Lymphangioleiomyomatosis"

Lancet ; 381(9869):817-24 ; March 2013
Idiopathic membranous glomerulonephritis with declining renal function: prednisolone-chlorambucil appears as a good option while ciclosporin should be avoided
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To read more about "Idiopathic membranous glomerulonephritis"

Lancet. ; 381(9868):744-51 ; March 2013
Severe pemphigus: in a long-term follow-up after rituximab therapy, 13/22 patients achieved complete remission and nine had an incomplete remission (median follow-up: 79 months)
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To read more about "Pemphigus vulgaris"
To read more about "Pemphigus foliaceus"
To read more about "Paraneoplastic pemphigus"

Sci Transl Med. ; 5(175):175ra30 ; March 2013
Frontotemporal dementia: memantine treatment showed no benefit in a multicentre, randomised, double-blind, placebo-controlled trial
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To read more about "Frontotemporal dementia"

Lancet Neurol. ; 12(2):149-56 ; February 2013
Limbic encephalitis with NMDA receptor antibodies: most patients responded to immunotherapy in a long-term observational cohort study
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Lancet Neurol. ; 12(2):157-65 ; February 2013Lancet Neurol. ; 12(2):157-65 ; February 2013
Leber congenital amaurosis: three-year follow-up after a single AAV2-hRPE65v2 injection clearly showed a stability of visual improvement in five patients
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To read more about "Leber congenital amaurosis"

Ophthalmology. ; March 2013
Genetic blindness: two reviews of gene therapy, with emphasis on clinical trials
Consult the PubMed abstracts
To read more about "Retinitis pigmentosa"
To read more about "Leber congenital amaurosis"
To read more about "Achromatopsia"
To read more about "Usher syndrome"
To read more about "Stargardt disease"
To read more about "Choroideremia"

Mol Ther. ; 21(3):509-19 ; March 2013
Prog Retin Eye Res. ; 32:22-47 ; January 2013
Narcolepsy-cataplexy: a randomised, double-blind, placebo-controlled trial suggests that oral L-carnitine can be effective in reducing excessive daytime sleepiness
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To read more about "Narcolepsy-cataplexy"

PLoS One. ; 8(1):e53707 ; 2013
Mucopolysaccharidosis type 2: idursulfase beta treatment significantly improved walking distance with an acceptable safety profile in a phase 1/2 trial
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To read more about "Mucopolysaccharidosis type 2"

Orphanet J Rare Dis. ; 8(1):42 ; March 2013
Pulmonary arterial hypertension: add-on imatinib improved exercise capacity in patients with advanced disease but serious adverse events were common
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To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Circulation. ; 127(10):1128-38 ; March 2013
Immune thrombocytopenic purpura: higher sustained response rates when adding rituximab to dexamethasone in newly diagnosed patients
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To read more about "Immune thrombocytopenic purpura"

Blood. ; 121(11):1976-81 ; March 2013
Erdheim-Chester disease and Langerhans cell histiocytosis with BRAF V600E mutation: vemurafenib induced a dramatic response in three patients
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To read more about "Erdheim-Chester disease"
To read more about "Langerhans cell histiocytosis"

Blood. ; 121(9):1495-500 ; February 2013
Cervical dystonia: bilateral pallidal stimulation was an effective and long-lasting (extending to >10 years) second-line treatment for 10 patients
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To read more about "Cervical dystonia"

Brain. ; 136(Pt 3):761-9 ; March 2013
Heritable connective tissue disorders: spontaneous cerebrospinal fluid leak may be a clinical manifestation
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To read more about "Marfan syndrome"
To read more about "Ehlers-Danlos syndrome, classic type"
To read more about "Ehlers-Danlos syndrome, hypermobility type"

Eur J Hum Genet. ; 21(4):386-90 ; April 2013
Anaplastic thyroid carcinoma: efficacy of vemurafenib treatment followed by radiation therapy in a patient with the BRAF V600E mutation
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To read more about "Anaplastic thyroid carcinoma"

N Engl J Med. ; 368(7):684-5 ; February 2013
Clinical Research
Retinitis pigmentosa and cone rod dystrophy: useful vision restored with a subretinal electronic implant working without external camera
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To read more about "Cone rod dystrophy"
To read more about "Retinitis pigmentosa"

Proc Biol Sci. ; 280(1757):20130077 ; February 2013
Pulmonary arterial hypertension: initial treatment with oral treprostinil improves exercise capacity in patients with class II or III symptoms
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To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

Circulation. ; 127(5):624-33. ; February 2013
Recurrent central nervous system lymphoma: intraventricular rituximab in combination with methotrexate is feasible and highly active
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Blood. ; 121(5):745-51. ; January 2013
XIAP-linked lymphoproliferative disease: poor outcome with myeloablative conditioning regimens for haematopoietic cell transplantation
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To read more about "X-linked lymphoproliferative disease"

Blood. ; 121(6):877-83. ; February 2013
Glycogen storage disease due to acid maltase deficiency: adding bortezomib appears safe and effective in infantile form against immune response to therapeutic protein
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To read more about "Glycogen storage disease due to acid maltase deficiency"

Genet Med. ; 15(2):123-31. ; February 2013
Majeed syndrome: systemic and bone inflammation controlled in two brothers with anti-IL-1 treatment
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To read more about "Majeed syndrome"

Ann Rheum Dis. ; 72(3):410-3. ; March 2013
Secondary amyloidosis: tocilizumab provides rapid and sustained suppression of disease activity and can prevent the progression of renal disorders
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To read more about "Secondary amyloidosis"

Ann Rheum Dis. ; 72(3):464-5. ; March 2013
Blau syndrome: IL-1 blockade with canakinumab can be an interesting option when conventional treatments failed
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To read more about "Blau syndrome"

Arthritis Rheum. ; 65(2):513-8. ; February 2013
Leber hereditary optic neuropathy: six months of idebenone treatment has a beneficial effect persisting for a median time of 30 months
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To read more about "Leber hereditary optic neuropathy"

Brain. ; 136(Pt 2):e230. ; February 2013
Autosomal dominant optic atrophy, classic type: preliminary results show improvement of visual function after idebenone therapy
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To read more about "Autosomal dominant optic atrophy, classic type"

Brain. ; 136(Pt 2):e231. ; February 2013
Dysferlinopathies: bad results obtained with deflazacort do not support steroids use
Consult the PubMed abstract
Consult this study on Orphanet

To read more about "Miyoshi myopathy"
To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2B"
To read more about "Distal myopathy with anterior tibial onset"

Orphanet J Rare Dis ; 8:26 ; February 2013
McCune-Albright syndrome: early diagnosis and treatment of GH excess prevents optic neuropathy and hearing impairment
Consult the PubMed abstract
To read more about "McCune-Albright syndrome"

J Clin Endocrinol Metab. ; 98(1):E126-34. ; January 2013
Chronic neutropenia: screening of GATA2 mutations is recommended in cases associated with monocytopenia considering the risks of harmful evolution
Consult the PubMed abstract
Blood. ; 121(5):822-9. ; January 2013
Stem Cells

Medulloblastoma: significant decrease in tumour growth rate with neural stem cell mediated enzyme/prodrug therapy in mice
Consult the PubMed abstract
To read more about "Medulloblastoma"

Gene Ther. ; 20(2):143-50. ; February 2013
Acute graft versus host disease: fetal membrane cells (isolated from placenta) may be successfully used in treatment of steroid-refractory disease
Consult the PubMed abstract
To read more about "Graft versus host disease"

Stem Cells. ; 31(3):592-601 ; March 2013
Spina bifida: autologous bone marrow stem/progenitor cells may be used as alternate, nonpathogenic cell sources for bladder tissue regeneration
Consult the PubMed abstract
To read more about "Isolated spina bifida"

Proc Natl Acad Sci U S A. ; 110(10):4003-8 ; March 2013
Gene Therapy
Rett syndrome: gene replacement therapy through AAV9/MECP2 intracranial transfer improve survival and phenotype in young male mice
Consult the PubMed abstract
To read more about "Rett syndrome"

Mol Ther. ; 21(1):18-30. ; January 2013
Cystinosis: expression of a CTNS transgene by haematopoietic stem and progenitor cells decreases lysosomal accumulation of cystine in mice
Consult the PubMed abstract
To read more about "Cystinosis"

Mol Ther. ; 21(2):433-44. ; February 2013
Proximal spinal muscular atrophy: intramuscular scAAV9-SMN injection improves survival and motor function in a mouse model
Consult the PubMed abstract
To read more about "Proximal spinal muscular atrophy"

Mol Ther. ; 21(2):282-90. ; February 2013
Wiskott-Aldrich syndrome: transduced CD34+ cells allow WAS protein expression with no toxicity in human cells and in immunodeficient mice
Consult the PubMed abstract
To read more about "Wiskott-Aldrich syndrome"

Mol Ther. ; 21(1):175-84. ; January 2013
Spina bifida: autologous bone marrow stem/progenitor cells may be used as alternate, nonpathogenic cell sources for bladder tissue regeneration
Consult the PubMed abstract
To read more about "Isolated spina bifida"

Proc Natl Acad Sci U S A. ; 110(10):4003-8 ; March 2013
X-linked lymphoproliferative disease with SAP mutation: SAP gene transfer restores cellular and humoral immune function in a murine model
Consult the PubMed abstract
To read more about "X-linked lymphoproliferative disease"

Blood. ; 121(7):1073-6 ; February 2013
Duchenne muscular dystrophy: AAV-mediated overexpression of human α7 integrin leads to histological and functional improvement in model mice
Consult the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Mol Ther. ; 21(3):520-5 ; March 2013
Therapeutic Approaches
Neuromyelitis optica: enzymatic deglycosylation converts pathogenic IgG into therapeutic antibody in vitro and in mice
Consult the PubMed abstract
To read more about "Neuromyelitis optica"

Ann Neurol. ; 73(1):77-85. ; January 2013
Vasculitis: a synthetic retinoid stops vascular inflammation in a mouse model probably through inhibition of neutrophil migration and activation
Consult the PubMed abstract
To read more about "Vasculitis"

Arthritis Rheum. ; 65(2):503-12. ; February 2013
Osteogenesis imperfecta: whole body vibrations increase bone formation and strength in mice
Consult the PubMed abstract
To read more about "Osteogenesis imperfecta"

Bone. ; 53(2):507-14. ; April 2013
Primary biliary cirrhosis: CTL-4-Ig treatment reduces intrahepatic T-cell infiltrates and biliary cell damage in a mouse model
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To read more about "Primary biliary cirrhosis"

Hepatology. ; 57(2):708-15. ; February 2013
Glioblastoma: miRNA-21 silencing favours action of sunitimib through enhancement of tumour cell sensitivity to its cytotoxic effect
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To read more about "Glioblastoma"

Hum Mol Genet. ; 22(5):904-18. ; March 2013
Pemphigus vulgaris: intradermal or topical use of a peptide blocking keratinocyte dissociation abrogates skin blistering in mice
Consult the PubMed abstract
To read more about "Pemphigus vulgaris"

J Clin Invest. ; 123(2):800-11 ; February 2013
Steinert myotonic dystrophy: RNA interference targeting CUG repeats of DMPK transcripts reduces accumulation of toxic RNA and myotonia in mouse
Consult the PubMed abstract
To read more about "Steinert myotonic dystrophy"

Mol Ther. ; 21(2):380-7. ; February 2013
Fragile X syndrome: lovastatin corrects excess hippocampal protein synthesis and prevents epileptogenesis in a mouse model
Consult the PubMed abstract
To read more about "Fragile X syndrome"

Neuron. ; 77(2):243-50. ; January 2013
MEDNIK syndrome: patients present copper metabolism perturbation and hepatopathy treatable by zinc acetate therapy
Consult the PubMed abstract
To read more about "MEDNIK syndrome"

Brain. ; 136(Pt 3):872-81 ; March 2013
Down syndrome: prenatal treatment with neuroprotective peptides prevents learning deficits in a mouse model
Consult the PubMed abstract
To read more about "Down syndrome"

PLoS One. ; 7(11):e50724 ; 2012
Pyruvate dehydrogenase deficiency: phenylbutyrate is a promising treatment for patients with this disease and other forms of lactic acidosis
Consult the PubMed abstract
To read more about "Pyruvate dehydrogenase deficiency"

Sci Transl Med. ; 5(175):175ra31 ; March 2013
Gastrointestinal stromal tumour: an anti-KIT monoclonal antibody inhibits imatinib-resistant tumour growth in vitro and in vivo
Consult the PubMed abstract
To read more about "Gastrointestinal stromal tumor"

Proc Natl Acad Sci U S A. ; 110(9):3501-6 ; February 2013
Huntington disease: exogenous delivery of a chaperonin subunit fragment modulates mutant huntingtin cellular phenotypes
Consult the PubMed abstract
To read more about "Huntington disease"

Proc Natl Acad Sci U S A ; 110(8):3077-82 ; February 2013
Scleroderma: tropisetron reduces collagen synthesis in human fibroblasts and exhibits antifibrogenic and antifibrotic effects in a mouse model of bleomycin-induced scleroderma
Consult the PubMed abstract
To read more about "Scleroderma"
To read more about "Localized scleroderma"
To read more about "Systemic sclerosis"

Arthritis Rheum. ; 65(3):792-804 ; March 2013
Medulloblastoma: targeting placental growth factor/neuropilin 1 pathway inhibits tumour growth and spread in a mouse model
Consult the PubMed abstract
To read more about "Medulloblastoma"

Cell. ; 152(5):1065-76 ; February 2013
Malignant peripheral nerve sheath tumour: suppression of CXCR4 activity (with shRNA or pharmacologically) inhibits tumourigenesis in two mouse models
Consult the PubMed abstract
To read more about "Neurofibromatosis type 1"
To read more about "Malignant peripheral nerve sheath tumor"

Cell. ; 152(5):1077-90 ; February 2013
Diagnostic Approaches

Retinitis pigmentosa and cone rod dystrophy: targeted next-generation sequencing is very useful for diagnosis, especially for early-onset forms
Consult the PubMed abstract
To read more about "Retinitis pigmentosa"
To read more about "Cone rod dystrophy"

Eur J Hum Genet. ; 21(3):274-80. ; March 2013
Glycogen storage disease: massively parallel sequencing particularly fitted to diagnose clinically and genetically heterogeneous disorders
Consult the PubMed abstract
To read more about "Glycogen storage disease"

Genet Med. ; 15(2):106-14. ; February 2013
Psychogenic movement disorders: functional neuroimaging can help differentiate psychogenic from organic dystonia
Consult the PubMed abstract
To read more about "Psychogenic movement disorders"

Brain. ; 136(Pt 3):770-81 ; March 2013
Sézary syndrome: the combination of four biomarkers (PLS3, Twist, CD158k/KIR3DL2, and NKp46) in PCR allows reliable diagnosis
Access the article via Pubmed
To read more about "Sezary syndrome"

Blood. ; 121(8):1477-8 ; February 2013

Patient Management and Therapy

Barth syndrome: a review and a focus on the new clinical and molecular insights
Consult the PubMed abstracts
To read more about "Barth syndrome"

Orphanet J Rare Dis. ; 8:23, 8:27 ; February 2013
Serrated polyposis (hyperplastic polyposis syndrome): in front of rapid and relentless development of colorectal neoplasia, prevention requires endoscopy and surgery
Consult the PubMed abstract
To read more about "Hyperplastic polyposis syndrome"

Gut. ; 62(3):404-8. ; March 2013
PHACE syndrome: report of a consensus conference on propranolol use and review of infantile hemangiomas
Consult the PubMed abstracts
To read more about "PHACE syndrome"

Pediatrics. ; 131(1):128-40;131(1):99-10 ; January 2013
Klinefelter syndrome: treatment and care of patients should be a multidisciplinary task
Consult the PubMed abstract
To read more about "Klinefelter syndrome"

J Clin Endocrinol Metab. ; 98(1):20-30. ; January 2013
Congenital hydronephrosis: continuous antibiotic prophylaxis recommended to prevent urinary tract infections in infants with high-grade forms
Consult the PubMed abstract
To read more about "Congenital hydronephrosis"

Pediatrics. ; 131(1):e251-61. ; January 2013
Muscular dystrophies: a comprehensive review integrating clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments
Consult the PubMed abstract
To read more about "Muscular dystrophy"

Lancet ; 381(9869):845-60 ; March 2013
Acute myeloid leukaemia in adults: a review of chromosomal and molecular abnormalities and treatment options and developments
Consult the PubMed abstract
To read more about "Acute myeloid leukemia"

Lancet. ; 381(9865):484-95 ; February 2013
Mast cell leukaemia: a review on symptoms, diagnosis, and management
Consult the PubMed abstract
To read more about "Mast cell leukemia"

Blood. ; 121(8):1285-95 ; February 2013
African trypanosomiasis: clinical features, diagnosis, and treatment
Consult the PubMed abstract
To read more about "African trypanosomiasis"

Lancet Neurol. ; 12(2):186-94 ; February 2013
Tyrosinemia: current management options
For further details
To read more about "Tyrosinemia type 1"
To read more about "Tyrosinemia type 2"
To read more about "Tyrosinemia type 3"
To read more about "Transient tyrosinemia of the newborn"

Orphan Drugs: Research and Reviews. ; (3):1-9 ; March 2013
Neurofibromatosis type 3: from genetics to diagnostic criteria - Update from the 2011 International Schwannomatosis Workshop
Consult the PubMed abstract
To read more about "Neurofibromatosis type 3"

Am J Med Genet A. ; 161(3):405-16 ; March 2013
Down syndrome: in the US, a multidisciplinary specialty clinic can identify and address many associated healthcare needs of children and adolescents
Consult the PubMed abstract
To read more about "Down syndrome"

Am J Med Genet A. ; 161(3):430-7 ; March 2013
Amyotrophic lateral sclerosis: controversies and priorities
Consult the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

Lancet Neurol. ; 12(3):310-22 ; March 2013
Herpes simplex virus keratitis: two reviews
Consult the PubMed abstracts
To read more about "Stromal keratitis"

Prog Retin Eye Res. ; 32:88-101 ; January 2013
Prog Retin Eye Res. ; 33:1-9 ; March 2013

Orphan Drugs
Regulatory News
7 positive opinions recommending orphan designation at the January 2013 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted seven positive opinions issued at the March 2013 COMP meeting for the treatment of:

- Follicular thyroid cancer
- Papillary thyroid cancer
- Glioma
- Chronic lymphocytic leukaemia/small lymphocytic lymphoma
- Niemann-Pick disease, type C
- Idiopathic pulmonary fibrosis
- Duchenne muscular dystrophy

Political and Scientific News
Current progress in drisapersen-potential drug for Duchenne muscular dystrophy-clinical trial
An article by Adam Feuerstein in The Street reported on complications associated to the clinical trial of a drug produced by GlaxoSmithKline (GSK) named drisapersen for the treatment of patients suffering from Duchenne muscular dystrophy (DMD) patients. The concerns were raised after presentation made by Rohit Batta, global medical leader in Glaxo's neuromuscular rare disease unit on Sunday, 24 February 2013 at The XI International Conference on Duchenne Muscular Dystrophy, held in Rome and organized by an Italian DMD advocacy group-Duchenne Parent Project Onlus. The reporter emphasised that “several patients” were hospitalised for thrombocytopenia and severe proteinuria that took place after drisapersen treatment during the clinical trial. According to the article “the hospitalizations due to serious adverse events attributed to drisapersen need to be evaluated in the context of the severity of DMD -- a rare, progressive, muscle-wasting disease...but if drisapersen is found to cause significant toxicity, the drug may fall behind competing DMD therapies with cleaner safety records and equal or better efficacy”. A clarification was provided by Dr. Rohit Batta in an email to Orphanet where he acknowledged “serious adverse events of thrombocytopenia and proteinuria” requiring hospitalisation, albeit for “a small number of boys in the clinical trial programme”. He assured that “all (patients) recovered, following withdrawal of drisapersen and appropriate medical management”. Dr. Batta also added that 96% of the boys continue to receive drisapersen treatment and that “a close watch is being kept on platelet counts and on proteinuria” throughout the trial. According to Dr. Batta, GSK will present the results of drisapersen clinical trials at various venues as it has done in the past and PhaseIIb (DMD114117) study results will be disclosed in scientific conferences and in the form of a manuscript in the near future. He also encourages “anyone participating in a drisapersen study that has questions or concerns (to) discuss these with their study investigator”.
Learn more about the drisapersen clinical trial



Funding announced to develop treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
The Ataxia of Charlevoix-Saguenay Foundation is offering an annual research grants for work aimed at developing treatments for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Such funding is offered regardless of where the research is being conducted and the deadline to apply is May 23, 2013. Further information and the application form can be obtained on the Foundation’s website

Partnersearch, Job Opportunities
Position for Bioinformatics Group at The Institute of Genetic Diseases Imagine
The Institute of Genetic diseases at Necker Enfants-Malades Hospital, in Paris invites applications from the area of bioinformatics, computational biology, and/or statistical genetics. Imagine, is an multidisciplinary research center, supported by a rare disease Foundation. Application deadline is 15 May.
Learn more about the Institute
Learn more about the position

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

Courses & Educational Initiatives
International Summer School “Clinical practice guidelines on rare diseases”
Date: 8-12 July, 2013
Venue: Rome, Italy

Istituto Superiore di Sanità is inviting applications from participants who would like to learn more about development process of clinical practice guidelines.
The following topics will be covered:
o Identifying key clinical issues to be included (scope)
o Developing review questions using PICO and planning the systematic review
o Identifying evidence: formulating, executing and documenting a search strategy
o Assessing the quality of relevant studies, summarizing and interpreting the body of evidence to make recommendations
o Obtaining formal consensus in the absence of evidence (Delphi-like method)
o Appraising synthesis documents: guidelines and systematic reviews
The course format consists of brief presentations followed by individual or small group exercises.
This course is free of charge and application/registration is currently open. Please, feel free to circulate this information to those who may have an interest in attending.
For further details


What's on Where?

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

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

4th International Patient Congress and the International Research Conference
Date:11-13 April 2013
Venue: Barcelona, Spain

To commemorate the 50th anniversary of the discovery of Alpha-1 Antitrypsin Deficiency by Carl-Bertil Laurell and Sten Eriksson in 1963, Alpha-1 communities from around the world will take part in two major events in Barcelona, Spain.
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, UK

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

12th 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 commercial 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

Fifth BHD Symposium and Second HLRCC Symposium
Date: 28-29 June 2013
Venue: Paris, France

This conference will be an excellent opportunity for stakeholders of Birt-Hogg-Dubé Syndrome to participate and network. The conference will comprise of invited lectures by worldwide experts, followed by panel discussion, and will also include a poster exhibition.
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

Orphan Drug & Rare Disease Seminar “Accelerating access to therapeutic innovation”
Date: 17-18 October 2013
Venue: Marseille; France

This commercial event, jointly organised by Eudipharm, F-Crin and OrphanDev, will aim to address issues that to help fill the current discrepancies in translational research for rare diseases and creating awareness of clinical research sectors.
For further details

3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
Date: 17-19 October 2013
Venue: Maastricht, The Netherlands

This conference aims to gather renowned researchers and clinicians working in the area of Rett Syndrome, to encourage interdisciplinary international cooperation. The conference also aims to provide stakeholders with the latest information on treatment of symptoms as well as preventative manangement.
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

14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Date: 22 - 25 October 2014
Venue: Córdoba- Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease


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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