22 April 2011 print
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Launch of the International Rare Disease Research Consortium sets some ambitious goals

In early April, regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals gathered for the second meeting and official launch of the International Rare Disease Research Consortium (IRDiRC). Following a successful preparatory meeting in Iceland in October 2010 (learn more), the second reunion picked up the pace with the endorsement by members to fulfil certain goals, including, notably, a commitment to the development of 200 new rare disease treatments by the year 2020 and the development of diagnostics for all rare disorders. Related challenges identified include the need to establish and provide access to harmonised data and samples, perform the molecular and clinical characterisation of rare diseases, boost translational, preclinical and clinical research, and streamline ethical and regulatory procedures.

Unprecedented cooperation…
Formed under the auspices of the US National Institutes of Health (NIH) and the European Commission, the IRDiRC will involve “an unprecedented cooperation at the international level” in order to fulfil the ambitious goals defined. As such, public and private stakeholders from all over the world are invited to join the fight to alleviate the suffering of rare disease patients and their loved ones. Participants included representatives from Canada, and individual European countries (France, Germany, Italy, Spain, and the UK, amongst others). Genetic Alliance president and CEO, Sharon Terry, who participated in the three day meeting, commented on the Genetic Alliance website that, "The energy generated by having concrete goals, with the commitment and leadership of major international funders throughout the entire meeting, was palpable. Now it is time to roll up our sleeves as a community, and focus our energy getting the business plan in place to succeed."

The loaded agenda began with an analysis of ongoing research efforts and future challenges, including a breakdown of country-specific activities. The conference then gave over to several breakout sessions on offer, including an Understanding of Pathophysiology of Rare Diseases (including genomic analysis by next generation sequencing, and animal and iPS cells models of rare diseases); Ontologies/Disease Classification/Natural History; Biomarkers; Patient Registries and Biospecimen Repositories; Preclinical Research and Clinical Trials; and Communication/Publication/Information/PR/Data Policy. The meeting wound down with a report and conclusions from the breakout sessions.

The next steps
A scientific and policy framework must be developed in order to “guide the research activities and foster collaboration among the stakeholders to systematically explore all the opportunities to accelerate the development of diagnostics and therapies for rare diseases”. Funding and budget considerations also need addressing. It is anticipated that the governance of the project will be modelled after the Human Genome Project – and thus be open to research bodies from around the world. It is probable that a minimum financial contribution will be required by participants, although no figure has yet been determined. Participants would also have to share all relevant data, a process that would help harmonise terminology and nosology between countries. A third meeting is being planned in Montreal, Canada, in the days preceding the 12th International Congress of Human Genetics in early October. Until then, the consortium members will focus on strengthening cooperation and reaching out to new members.

EUCERD update
Concepcion (Concha) Colomer Revuelta: 1958 - 2011
The European Union Committee of Experts on Rare Diseases (EUCERD) is sad to announce the sudden loss of its Spanish Ministry of Health representative, Concepcion (Concha) Colomer Revuelta, who died earlier this month, just four days after being diagnosed with leukaemia. Director of the Centre for Health of Women and head of the Office of Health Planning and System Quality Agency, National Health, Ministry of Health, Social Policy and Equality, Concha Colomer was a pioneer in introducing the gender perspective into health problems. A committed feminist, she spearheaded a strategy for detecting domestic violence in health care, hospitals and in primary schools. In her work with the Ministry of Health, Social Policy and Equality, Concha Colomer also played a key role in the development of different strategies around cancer, diabetes, and sexual and reproductive health, among others. As a contributor to the Europlan project, she brought a fresh vision to the rare disease situation. Her energy and expertise were warmly welcomed by the EUCERD and her absence will be felt keenly on both the professional and personal level. Just fifty-three years old, Concha Colomer leaves behind two children. The EUCERD extends its sincere condolences to the family, friends and colleagues of this remarkable woman, whose presence will be sadly missed.


Spotlight on...
Taking stock of paediatric oncology research in Europe and beyond

A comprehensive study, supported by the EU-funded Seventh Framework Programme project Eurocancercoms, takes stock of the state of research for paediatric cancer across Europe, North America and the rest of the world, comparing the outputs of Europe, the USA and Canada over an 11 year period. The study identifies the leading research institutions in paediatric oncology and tries to gauge the commitment of individual countries to paediatric oncology, comparing all oncology and all biomedical research for the same period, as well as the amount of collaboration between institutions and countries. The report also looks at financial resources, comparing private and public sources, and reveals an urgent need for sustainable funding mechanisms.

The study considers publications in the field, and finds childhood cancer research to be “the poor relation” with paediatric oncology papers receiving fewer citations than the average for the journals in which they are published. Paediatric oncology research represents 5% of all published cancer research. Despite everything, amazing leaps have been made in the field of paediatric cancer diagnostics, treatments, and survival. All the paediatric cancers are rare diseases, and the strategies used for advancing paediatric cancer research and treatment can serve as a model for other rare diseases. Historically, paediatric cancers were neglected, but strategic organising, collaborating and lobbying on the part of groups such as the European Organisation for Research and Treatment of Cancer (EORTC) have led to an increase in awareness, and consequently, funding, for paediatric cancers, which has translated into a longer survival rate for childhood cancer patients as well as improvements in diagnostics and treatment. Yet while paediatric oncology “is a vibrant and growing research community which has delivered major advances across many childhood cancers in terms of survival and quality-of-life improvements” there is still a long way to go.

The study, published by the European Society for Paediatric Oncology (SIOPE) and the Centre for Global OncoPolicy, offers a ten-country review of research, care, and funding, as well as an analysis of the output of publications on paediatric oncology research. The differences between the countries surveyed were “striking”. In particular, "the countries with a larger oncology burden, such as those in Eastern Europe, tended not to collaborate in research with those with a better-developed research structure, and this in turn affected the care they were able to give young patients”. In a press release, Professor Kathy Pritchard-Jones, Cancer Programme Director at the UCL Institute of Child Health, London, UK, and past President of SIOPE remarks that “… a respondent from Bosnia-Herzegovina cited lack of hospital space, no specialist paediatric oncology radiologists, and inadequate diagnostic facilities, with everything adapted to adult patients. The Czech Republic said that research grants were usually for only three years and there was little support for young scientists to attend international courses and congresses which could help harmonise the level of knowledge across European states”. Other country differences include Italy, which has a problem with the fragmentation of childhood cancer care, with “nearly 50 centres specialising in paediatric haematology and oncology, and a lack of co-ordination between research laboratories and clinics”. The authors contrast this situation with Sweden, which “… has only six paediatric oncology units, which work closely together but, even there, there are problems of funding and a lack of experienced staff”. Meanwhile, “…the UK expressed concern about the effects of health service cuts on children’s cancer care, and the fact that infrastructure changes had moved paediatrics alongside the adult cancer model, meaning that research for children now has to compete for funds at a much more visible level with research for adults”. The study also examines the provision of information on childhood cancer, “… with variations in the involvement of parental organisations, the use of digital media, and the adoption of a common national standard for information provision”.

The outcome of this survey has resulted in a set of expert recommendations for Europe, including the need for:

  • Adequate EU funding to support a Europe-wide clinical trials network to assist with testing and dissemination of novel therapies and techniques. ENCCA [the European Network for Cancer Research in Children and Adolescents] has been an important tool in delivering solutions in this area. However, this is short term, and sustainable, long-term research networks must be created and funded
  • A reduction of EU trial bureaucracy/regulations to remove barriers to initiation and conduct of investigator-led clinical trials which could include a European Trials Bureau. Furthermore there needs to be a better understanding by regulatory policymakers of the level of risk for children with cancer participating in clinical trials (currently overestimated by insurers as well). It is essential that the EU Clinical Trials Directive is modified if investigator-driven clinical trials are to have any future
  • The creation of a European Parent/Survivor organization to assist with enhancing quality of patient information for childhood cancers
  • The creation of a European Childhood Cancer Epidemiological Registry (essential for outcomes research) and linked Biobank Facility to enhance awareness of childhood cancer incidence, support development of service provision and facilitate access to linked population data and tissue samples for research
  • EU support for enhanced harmonization of treatments through Pan-European Guidelines for treatment

  • Elements of the recommendations are applicable to other groups of rare diseases that suffer from a lack of sustainable research, diagnostic, and treatment platforms as well as harmonised protocols and guidelines for care and treatment.
    Consult the ecancermedicalscience open-access article


    EU Policy News
    Eurobarometer rare disease survey now available in French and German
    The 16 March 2011 issue of OrphaNews Europe reported on the rare disease Eurobarometer survey – published on 28 February in honour of the fourth International Rare Disease Day and consisting of some 26,574 interviews undertaken in all 27 European Union Member States gauging awareness for rare conditions as well as the level of public support for European-level measures. The Eurobarometer survey is now also available in German and French languages.
    Knowledge is power: the EU Clinical Trials Register
    It has been a long time coming. The EU Clinical Trials Register launched last month, allowing public access to information on any of the thousands of authorised clinical studies for medicinal products in the European Union (EU). Rare disease patient organisations and researchers alike have been clamouring for such a mechanism for years, in order to reduce duplication of effort and allow patients to see what progress is being made in their specific areas. The EU Clinical Trials Register website is part of the European Union Drug Regulating Authorities Pharmaceutical Database (EudraPharm) – which houses information on the medicinal products authorised in the EU. The Clinical Trials Register provides information on clinical trials for medicinal products either with or without a marketing authorisation and offers access to information extracted from EudraCT - the database for all clinical trials commencing in the Community from 1 May 2004 onwards and only accessible to national drug agencies up to now.

    EudraCT is used by the national medicine regulatory authorities to support the supervision of clinical trials and as such was established as a confidential database, in accordance with article 11 of Directive 2001/20/EC (the Clinical Trials Directive). However, article 57 of Regulation (EC) No 726/2004 and article 41 of the Paediatric Regulation (EC) No 1901/2006 established that data on clinical trials conducted in adult and paediatric populations should be publicly accessible.

    The Clinical Trials Register allows open access to information concerning trials authorised in the European Economic Area (EEA), including adult Phase II-IV studies recorded in EudraCt. Paediatric clinical trials with investigator sites inside the EEA or which form part of a PIP (Paediatric Investigation Plan) with investigator sites outside the EEA are also included. Following the guidelines published by the European Commission, all trials in the register have been authorised by the national medicine regulatory authority and have obtained a positive opinion from the ethics committee for clinical trials in the Member State concerned. Furthermore, clinical trials that include the paediatric population and have received a negative ethics committee opinion are being made public. Phase I clinical trials in adults will not be publicly available unless they form part of a PIP. The Clinical Trials Register contains historical data - all eligible trials contained in the EudraCT since its establishment in May 2004 - and will contain all future trials recorded in the EudraCT.

    Information available via the Clinical Trials Register includes a description of the trial – including the study design, the sponsor, product(s) under investigation and their status (authorised, ongoing, et cetera), and therapeutic area(s). The site permits users to conduct a free text search and to filter for various conditions (Member State; subject characteristics, including age or gender; and trial phase). Information is provided by the trial sponsor to the national medicine regulatory authorities who enter it into the EudraCT database, including the opinion of the ethics committee, and, eventually, the results of the study. For third country trials, the information comes from the PIP application via the European Medicines Agency (EMA). The information on clinical trials conducted in the EU Member States is provided to the national medicine regulatory authorities by the trial sponsors as part of the sponsor’s application for authorisation to conduct a trial.

    Public access does not currently extend to data concerning trial results. However, there are plans to eventually include summaries of results, based on a guideline to be published by the European Commission, in late 2012 following the launch of an updated version of the EudraCT. The Clinical Trials Register does not provide data for non-interventional studies (observational, et al) for authorised products. Such data can be found via the website of the European Network of Centres for Pharmacoepidemiology and Pharmacovigilance (ENCePP).

    The EMA is working with the National Institutes of Health in the USA, which manages the ClinicalTrials.gov registry of federally and privately supported clinical trials conducted in the United States and around the world as well as the Health Level 7 - Clinical Trial Registration and Results project on the harmonisation of data sets submitted by the sponsor to clinical trial registers, as well as the World Health Organization. Such harmonisation is particularly welcomed by the rare disease community, which already faces the challenges of scattered patient populations and expertise.
    Visit the EU Clinical Trials Register


    National & International Policy Developments
    English Health Ministers agree to commissioning for six more rare conditions
    Health ministers in England have agreed to national commissioning of services, effective 1 April 2011, for patients with the following disorders: Stickler syndrome; Wolfram syndrome; Lymphangioleiomyomatosis; Insulin resistance syndromes (e.g. Donohue and Rabson Mendenhall syndromes); Severe and complex forms of osteogenesis imperfecta; and Pseudo-obstruction of gut in young children. National commissioning establishes national centres of expertise for a specific disease and streamlines funding to one centralised source rather than being scattered amongst different local budgets.
    Other European news
    Cafe Variome - gene variant data clearinghouse goes live
    The internet-based Cafe Variome is designed to function as a clearinghouse and exchange portal for gene variant (mutation) data produced by diagnostic laboratories, offering users a secure environment through which to announce, discover and acquire a comprehensive listing of observed neutral and disease-causing gene variants in patients and unaffected individuals. Each variant in Cafe Variome will be accompanied by basic phenotypic annotation.

    To achieve this, Cafe Variome facilitates the “publication” of data from researchers, diagnostics laboratories, and others, to any and all stakeholders who may wish to, for example, check for evidence of causal influence upon certain disease states, and/or incorporate the data into locus-specific databases (LSDBs). While data generators generally do not object to disseminating anonymised diagnostic data, they are also not motivated to do so because of the effort and time involved, and certainly would not want to send the data to several destinations with differing submission requirements. Cafe Variome specifically addresses these issues by:
  • Enabling data analysis tools used by research and diagnostic laboratories with a “data submission” function which automatically pushes diagnostic data in a standardised format into Cafe Variome, which acts as a universal data reception and advertisement point
  • Working closely with providers of variant interpretation software used in diagnostic laboratories to produce versions of these tools that allow users to submit sequence variants directly to Cafe Variome
  • Offering manual support to laboratories to move their variant datasets into Cafe Variome (legacy data and new data in batches or in real time)
  • Providing a single depot which can be conveniently searched to identify newly discovered variants in genes of interest, and make them available for controlled or open download by diverse third parties
  • Ensuring total control by the data submitters over who may and may not access their data by a convenient system for granting access rights where appropriate

  • The development of Cafe Variome (based at the University of Leicester, UK) involves the cooperation of the diagnostic software companies PhenoSystems (Gensearch) and Interactive Biosoftware (Alamut) as well as academic partners in the Bioinformatics Support Group at Leiden University Medical Centre (LUMC) whose Mutalyzer data-validation tool will permit feedbacking data-inconsistencies to submitters, and at NGRL Manchester who have extensive expertise in diagnostic databases through their development of DMuDB.

    Key data suppliers who have already deposited data into Cafe Variome include: Pilot data from four diagnostic laboratories (University of Würzburg, Germany; Hôpital Ambroise Paré, Paris; Liverpool Women's Hospital, UK; Instituto de Genética Médica Jacinto Magalhães, Portugal); HGMD; dbSNP; UniProt; and PhenCode.

    Cafe Variome is part of the GEN2PHEN project which receives funding from the European Community's Seventh Framework Programme under grant 200754. GEN2PHEN has the global objective of unifying human and model organism genetic variation databases towards increasingly holistic views into Genotype-To-Phenotype (G2P) data by establishing data standards and exchange protocols. The ultimate goal is to link biomedical knowledge sources in a seamless fashion.
    Cafe Variome went live in late February and access to all of its facilities is free of charge.
    Learn more

    Other International News
    China has yet to define the term “rare disease”
    An article appearing in the China Daily newspaper on 31 March offers an insight into the situation for rare disease patients in China. According to the news report, there are an estimated 15.6 million rare disease patients in China – which would mean that approximately 1.1% of the country’s population is affected. However, China does not have a working definition for “rare disease” and no reliable data on the number of patients have been captured. Xu Kaifeng, a physician at the Peking Union Medical College, states that most rare disease patients experience misdiagnosis. Huang Ziheng, director of the Rare Disease Office of the China Charity Foundation, concurs that “Few medical institutions are engaged in the research of rare diseases, and this means patients do not get timely diagnosis and treatment... [furthermore] there are … no preferential policies to encourage domestic pharmaceutical companies to develop new drugs treating rare diseases”. It is estimated that medical treatment is available for only one percent of the country’s rare disease patients. However, things may be changing. The article notes that at the 2009 National People’s Congress (NPC) and the Chinese People’s Political Consultative Conference, 30 NPC deputies proposed that medical insurance preference be given to rare disease patients. According to the news report, a regulation was passed in 2009 that fast-tracks the registration of some rare disease products. Rare Disease Day has also ushered in action – on 28 February of this year, the Shanghai Rare Disease Society, with 28 medical professionals onboard was founded. The group put forward a demand for legislation and insurance for rare disease patients.
    The Cure Cystinosis International Registry benefits patients and professionals

    The Cure Cystinosis International Registry (CCIR) is a collaborative effort by the Cystinosis Research Foundation, the Cystinosis Foundation and scientists in the global cystinosis community to establish a comprehensive international patient registry for this rare disease. CCIR Board of Advisors include Jerry Schneider, MD, U.C. San Diego, Dr. Stephanie Cherqui, the Scripps Research Institute, Patrick Niaudet, MD, Hospital Necker-Enfants Malades (Paris, France), Doris A. Trauner, U.C. San Diego, Bruce Barshop, MD, Ph.D. and Ranjan Dohil, MD, both of UC San Diego, Paul Goodyer, MD of Montreal Children's Hospital, Canada, along with other leading scientists in the field of cystinosis research. The CCIR is designed to facilitate the development of new clinical trials and research studies for cystinosis by connecting the patient and research communities. Registered providers receive notification of clinical trials, including recruitment, updates and result outcomes. Medical and research professionals who register on the professional/researcher portal can request de-identified data about numerous clinical characteristics from the patient registry database. The CCIR is a central hub of information and is used as a resource for those with an interest in cystinosis. The site is available to clinicians, researchers, scientists and pharmaceutical companies and provides them with limited access to a database of information provided by patients and their families. That information could prove vital to advances in the care and treatment for cystinosis patients. Participation by patients and scientists is crucial to this goal. Please visit the CCIR website to register. Questions about this registry may be directed to the CCIR curator, Betty Cabrera.


    Ethical, Legal & Social Issues

    Ethical considerations around funding orphan drugs in Brazil
    An article appearing in the Journal of Medical Ethics takes up the case of treatment for mucopolysaccharidosis type I (MPS I) in Brazil to elaborate ethical issues associated with public funding for orphan drugs in the country. MPS I, a rare lysosomal storage disorder caused by deficiency of the enzyme a-L-iduronidase, can be treated either by bone marrow transplantation or via enzyme replacement therapy with laronidase, an orphan drug produced by Genzyme and approved for marketing by both the FDA and EMA in 2003. Although there is a lack of concrete epidemiological data for MPS I in Brazil, a register recorded 87 patients in the county between 2003 and 2007. Laronidase received marketing authorisation in Brazil in 2005 but did not obtain coverage under the country’s specialised pharmaceutical assistance programme. No clinical protocol or therapeutic guideline has been issued for it. In the USA, laronidase treatment costs around $350,000 per year for a patient weighing around 20 kg. Despite these impediments to treatment access, the authors determined that a number of MPS I patients in Brazil were obtaining laronidase treatment through “undetermined routes” and sought to explore the situation. They identified 68 patients, the majority aged less than 15 years, with MPS I in 15 Brazilian states and the federal district. Of the patients identified, 88.2% were being treated with laronidase and in 86.6% of cases access to the drug was secured through litigation against the state or federal government. The authors define Brazil as a country “…in dire need of public policies to help plan for (and meet) the growing demand for novel pharmaceutical treatments of other genetic conditions” and assert that “the rule of equitative opportunities, as applied to health care, mandates the rejection of policies that deprive people with rare diseases of available therapies simply because these are costly. Decisions on which drugs to cover will ultimately depend on the political and social acceptability of denying (or providing) access, taking into account economic and moral aspects alike. The need for technical criteria to determine the actual benefits of orphan drug use is also a challenge that must be faced, as are cost-effectiveness issues. The best approach may be one based on deliberative democracy, in which society at large (and groups affected by the issue in particular) are heard openly and in an environment conducive to negotiation, leading to well-founded, rational decisions on orphan drug access, rather than the current scenario of court-mandated funding. A representative survey of public opinions on orphan drug funding, including priority space for minorities, should be the subject of future studies”. A similar free-access article by some of the same authors, entitled High Cost Drugs for Rare Diseases in Brazil: the Case of Lysosomal Storage Disorders was recently published in the Portuguese-language journal Ciência & Saúde Coletiva.
    Consult the PubMed abstract


    Orphanet News
    Let’s network …Orphanet creates functions to search for rare disease networks

    Orphanet has developed new search features that allow users to access networks in three distinct categories: Expert centres, Research and trials, and Patient organisations. Networks are a growing phenomenon in the rare disease community, evolving from the recognition that collaboration and cooperation are crucial in order to combat scattered and limited resources, expertise, and patient populations in the field.

    The expert centre networks listed in Orphanet are official networks. As such they fulfil the following criteria: they are designated at the national or regional level, or are funded at the European, national or regional level. The expert centre networks can be searched by disease and country, and the search can be further refined by name, professional, institution or funding body. The research and trial networks can be searched by disease, gene, country and category (research project, multinational trial, mutation registry, patient registry or biobank). The search can also be made by network name, professional, institution, substance/tradename, or sponsor/funding body. The patient association networks include all the umbrella organisations and federations with members registered in Europe and surrounding countries. They can be searched by disease and country. The new Network sub-tabs are accessible via the “Expert centres”, “Research and trials” and “Patient organisations” tabs located on the homepage of Orphanet.

    Orphanet 2010 annual activity report shows an expansion of information, features, and geographical range

    Orphanet, the information reference portal for rare diseases and orphan drugs with partnerships in 38 pan-European countries, has published online its annual activity report for 2010. This document provides an overview of the diverse activities undertaken or elaborated in 2010, as well as a profile of the activities of the site’s users. An update of the various tools, products and services that Orphanet developed or improved upon in 2010 is furnished, along with details on the network’s national and international collaborations. There is also information on Orphanet’s communication activities, as well as details of the network’s major funding sources and financial partnerships. Consult the 2010 Orphanet Activity Report

    More Orphanet country sites available offering local rare disease news and events
    As was reported in the 29 September 2010 issue of OrphaNews Europe, Orphanet, the pan-European reference and information portal for rare diseases and orphan drugs with partners in 38 countries, has further customised its offer by creating country sites for each of the Orphanet partners, available in the local own language(s). These local sites, managed by each Orphanet country team, feature information on rare diseases and orphan drugs, as well as local political, medical and scientific news, and locally sponsored conferences and events. The central Orphanet database of diseases and resources, available in six European languages, can be easily accessed from the local sites. The Czech Republic, Estonia, France, Germany, Ireland, Israel, Italy, Poland, Portugal, Spain, Sweden and UK have gone live with their local sites. The local sites are accessible from the Orphanet in Partner Countries section at the bottom of the Orphanet homepage.


    New Syndromes

    Developmental delay linked to a 12p13.33 interstitial deletion in a family
    A novel 1.39 Mb interstitial deletion of chromosome 12p13.33 in an 8 year-old girl and her affected father and brother was identified. All three shared a history of developmental delay and staring episodes. The deleted region contains eight annotated genes. Hemizygous deletions of the ERC1, FBXL14, or WNT5B genes may be involved in the development of neurological disorders in these individuals.
    Read the PubMed abstract

    Eur J Med Genet ; 198-203 ; March-April 2011

    New Genes

    Atypical CHARGE syndrome: terminal 4q deletion and 8q duplication, without CHD7 mutation or deletion, is associated
    Read the PubMed abstract
    To read more about "CHARGE syndrome"

    Eur J Med Genet ; 173-176 ; March-April 2011
    Limb-girdle muscular dystrophy with cognitive impairment: mutation of DAG1, the dystroglycan-encoding gene, at cause
    Read the PubMed abstract
    To read more about "Autosomal recessive limb-girdle muscular dystrophy"

    N Engl J Med ; 939-946 ; 10 March 2011
    Autosomal-recessive isolated posterior microphthalmos: mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Read the PubMed abstract
    To read more about "Isolated anophthalmia - microphthalmia"

    Am J Hum Genet ; 382-390 ; 11 March 2011
    Globozoospermia: two studies identify DPY19L2 deletion as a major cause, blocking sperm head elongation and acrosome formation
    Read the PubMed abstract
    To read more about "Globozoospermia"

    Am J Hum Genet ; 344-50; 351-61 ; 11 March 2011
    Osteogenesis imperfecta type III: identification of truncating mutations in SERPINF1
    Read the PubMed abstract
    To read more about "Osteogenesis imperfecta type 3"

    Am J Hum Genet ; 362-371 ; 11 March 2011
    Dilated cardiomyopathy: genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3
    Read the PubMed abstract
    To read more about "Dilated cardiomyopathy"

    Am J Hum Genet ; 273-282 ; 11 March 2011
    Familial primary hypomagnesemia: CNNM2 is mutated in some patients with dominant renal Mg(2+) wasting
    Read the PubMed abstract
    To read more about "Familial primary hypomagnesemia"

    Am J Hum Genet ; 333-343 ; 11 March 2011
    Autosomal recessive nonsyndromic intellectual deficit: a mutation in TECR, encoding a synaptic protein, at cause
    Read the PubMed abstract
    To read more about "Autosomal recessive nonsyndromic intellectual deficit"

    Hum Mol Genet. ; 1285-1289 ; 1 April 2011
    Autosomal dominant nonsyndromic sensorineural deafness type DFNA: CEACAM16 is mutated in a DFNA4 family
    Read the PubMed abstract
    To read more about "Autosomal dominant nonsyndromic sensorineural deafness type DFNA"

    PNAS ; 4218-4223 ; 8 March 2011
    Ovarian Sertoli-Leydig cell tumors occurring with multinodular goiter: DICER1 mutations are associated
    Read the PubMed abstract
    To read more about "Ovarian malignant Sertoli-Leydig cell tumor"

    JAMA ; 68-77 ; 5 January 2011
    Glioblastoma: NFKBIA deletion has an effect similar to EGFR amplification and is associated with shorter survival
    Read the PubMed abstract
    To read more about "Glioblastoma"

    N Engl J Med ; 627-637 ; 17 February 2011

    Research in Action

    Fundamental Research
    Glioblastoma: tumour cells can transdifferentiate into vascular endothelial cells, by a VEGF-independent mechanism
    Read the PubMed abstract
    To read more about "Glioblastoma"

    PNAS ; 4274-4280 ; 15 March 2011
    Diffuse intrinsic pontine glioma: Hedgehog-responsive cells as candidate cells of origin
    Read the PubMed abstract
    To read more about "Glial tumor"

    PNAS ; 4453-4458 ; 15 March 2011
    Huntington disease: phosphorylation of serine 16 in huntingtin plays a critical role in the selective neuropathology
    Read the PubMed abstract
    To read more about "Huntington disease"

    Hum Mol Genet ; 1424-1437 ; 1 April 2011
    Monosomy 22q11: deficiency of Dgcr8 results in altered short-term plasticity in the prefrontal cortex
    Read the PubMed abstract
    To read more about "Monosomy 22q11"

    PNAS ; 4447-4452 ; 15 March 2011
    Biliary atresia: epigenetic activation of IFN-γ signaling as a common etiologic mechanism of intrahepatic bile duct defect
    Read the PubMed abstract
    To read more about "Biliary atresia"

    Hepatology ; 905-914 ; March 2011
    Neuronopathic Gaucher disease: spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model
    Read the PubMed abstract
    To read more about "Gaucher disease type 2"
    To read more about "Gaucher disease type 3"

    Hum Mol Genet ; 1375-1386 ; 1 April 2011
    Primary biliary cirrhosis: activated invariant natural killer T cells exacerbate murine autoimmune cholangitis and fibrosis
    Read the PubMed abstract
    To read more about "Primary biliary cirrhosis"

    Hepatology ; 915-925 ; March 2011
    Frontotemporal degeneration with dementia: kinetics of programmed cell death raised in animal progranulin mutants
    Read the PubMed abstract
    To read more about "Frontotemporal degeneration with dementia"

    PNAS ; 4441-4446 ; 15 March 2011
    Duchenne muscular dystrophy: Akt signaling pathways counteract mdx pathogenesis by enhancing endogenous compensatory mechanisms
    Read the PubMed abstract
    To read more about "Muscular dystrophy, Duchenne type"

    Hum Mol Genet ; 1324-1338 ; 1 April 2011
    Clinical Research
    Familial leiomyomatosis with renal carcinoma: new FH mutations identified, some of which are also found in isolated renal carci
    Read the PubMed abstract
    To read more about "Familial leiomyomatosis"

    J Med Genet ; 226-234 ; April 2011
    Diazoxide-sensitive diffuse hyperinsulinism: HADH mutations are a common cause in consanguineous pedigrees
    Read the PubMed abstract
    To read more about "Diazoxide-sensitive diffuse hyperinsulinism"

    J Clin Endocrinol Metab ; e498-502 ; March 2011
    Systemic sclerosis: monitoring of hand radiographic lesions has striking level
    Read the PubMed abstract
    To read more about "Systemic sclerosis"

    Ann Rheum Dis ; 630-633 ; April 2011
    Systemic sclerosis: NLRP1 is a new susceptibility gene for pulmonary fibrosis and anti-topoisomerase-positive phenotypes
    Read the PubMed abstract
    To read more about "Systemic sclerosis"

    Ann Rheum Dis ; 668-674 ; April 2011
    Erdheim-Chester disease: CNS involvement and treatment with interferon-α are independent prognostic factors
    Read the PubMed abstract
    To read more about "Erdheim-Chester disease"

    Blood ; 2778-2782 ; 10 March 2011
    Sickle cell anemia: baseline data from the BABY HUG Trial concerning biomarkers of splenic function in infants
    Read the PubMed abstract
    To read more about "Sickle cell anemia"

    Blood ; 2614-2617 ; 3 March 2011
    Gene Therapy
    Retinitis pigmentosa: tolerance of adeno-associated virus type 2 encoding channelrhodopsin-2 in a genetically blind rat model
    The authors previously reported that transduction of the channelrhodopsin-2 (ChR2) gene into retinal ganglion cells restores visual function in genetically blind, dystrophic Royal College of Surgeons (RCS) rats. In this study, they attempted to reveal the safety and influence of exogenous ChR2 gene expression. Adeno-associated virus (AAV) type 2 encoding ChR2 fused to Venus (rAAV-ChR2V) was administered by intra-vitreous injection to dystrophic RCS rats. However, rAAV-ChR2 gene expression was detected in non-target organs in some cases. ChR2 function, monitored by recording visually evoked potentials, was stable across the observation period (64 weeks). No change in retinal histology and no inflammatory marker of leucocyte adhesion in the retinal vasculature were observed. Although antibodies to rAAV and ChR2 were detected, their levels were too low for rejection. T-lymphocyte analysis revealed recognition by T cells and a transient inflammation-like immune reaction only until 1 month after the rAAV-ChR2V injection.
    Read the PubMed abstract

    To read more about "Retinitis pigmentosa"

    Gene Ther ; 266-274 ; March 2011
    Therapeutic Approaches
    Beta-thalassaemia major: foetal haemoglobin in erythroid progeny CD34+ cells after lentiviral vector-mediated gene transfer
    Increased levels of fetal haemoglobin (HbF), such as occurs with hereditary persistence of HbF, ameliorate the severity of beta-thalassaemia, raising the potential for genetic therapy directed at enhancing HbF. The authors used an in vitro model of human erythropoiesis to assay for enhanced production of HbF after gene delivery into CD34(+) cells obtained from mobilized peripheral blood of normal adults or steady-state bone marrow from patients with beta-thalassaemia major. Lentiviral vectors encoding (1) a human gamma-globin gene with or without an insulator, (2) a synthetic zinc-finger transcription factor designed to interact with the gamma-globin gene promoters, or (3) a short-hairpin RNA targeting the gamma-globin gene repressor, BCL11A, were tested. Erythroid progeny of normal CD34(+) cells demonstrated levels of HbF up to 21% per vector copy. For beta-thalassaemic CD34(+) cells, similar gene transfer efficiencies achieved HbF production ranging from 45% to 60%, resulting in up to a 3-fold increase in the total cellular Hb content. These observations suggest that both lentiviral-mediated gamma-globin gene addition and genetic reactivation of endogenous gamma-globin genes have potential to provide therapeutic HbF levels to patients with beta-globin deficiency.
    Read the PubMed abstract

    To read more about "Beta-thalassemia major"

    Blood ; 2817-2826 ; 10 March 2011
    Recessive dystrophic epidermolysis bullosa: induction of pluripotent stem cells from patients
    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the COL7A1 gene-encoding type VII collagen (Col7). The authors generated induced pluripotent stem (iPS) cells from three subjects with RDEB (RDEB iPS cells). They found that Col7 was not required for stem cell renewal and that RDEB iPS cells could be differentiated into both haematopoietic and nonhaematopoietic lineages. The specific epigenetic profile associated with de-differentiation of RDEB fibroblasts and keratinocytes into RDEB iPS cells was similar to that observed in wild-type (WT) iPS cells. Importantly, human WT and RDEB iPS cells differentiated in vivo into structures resembling the skin.
    Read the PubMed abstract

    To read more about "Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type"
    To read more about "Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type"

    J Invest Dermatol ; 848-856 ; April 2011
    Systemic sclerosis: the cannabinoid WIN55,212-2 abrogates dermal fibrosis in a mouse model
    The endocannabinoid system may be involved in pathological fibrosis, and its modulation might limit fibrotic responses. The authors used a bleomycin mouse model of scleroderma. One mouse group was cotreated with the synthetic cannabinoid WIN55,212-2, and the other group was treated as a control. Bleomycin treatment induced typical skin fibrosis. Upon WIN55,212-2 treatment dermal fibrosis was completely prevented. Subcutaneous inflammatory cell infiltration, dermal thickness and collagen content resulted similar to those of the control group. The synthetic cannabinoid prevented fibroblasts activation induced by bleomycin, paralleled by a strong inhibition of TGF-beta, CTGF and PDGF-BB expression. Phosphorylation of SMAD2/3 was significantly downregulated after WIN55,212-2 exposure.
    Read the PubMed abstract

    To read more about "Systemic sclerosis"

    Ann Rheum Dis ; 695-699 ; April 2011
    Antiphospholipid syndrome: fluvastatin has global effects on the prothrombotic status
    Patients with antiphospholipid syndrome (APS) have a thrombotic-proinflammatory tendency of unknown mechanism. Because of their anti-inflammatory, anticoagulant and immunoregulatory effects, statins have been tested as a therapeutic tool in APS patients. The authors attempted to delineate the mechanisms at cause. Forty-two APS patients with thrombosis and 35 healthy donors were included in the study. APS patients received 20 mg/day fluvastatin for 1 month. After 1 month of treatment, monocytes showed a significant inhibition of tissue factor, protein activator receptors 1 and 2, vascular endothelial growth factor and Flt1 expression. Proteomic analysis showed proteins involved in thrombotic development with altered expression after fluvastatin administration. The data support the belief that fluvastatin has multiple profound effects in monocyte activity, which might contribute to thrombosis prevention in APS patients.
    Read the PubMed abstract

    To read more about "Antiphospholipid syndrome"

    Ann Rheum Dis ; 675-682 ; April 2011
    Diagnostic Approaches

    Turner syndrome: validity of a high-throughput, pyrosequencing based test for the accurate detection
    Many girls with Turner syndrome (TS) are not detected until after 10 years of age, resulting in delayed evaluation and treatment. With a high-throughput test for TS, based on a quantitative method of genotyping to detect X-chromosome abnormalities, the authors developed an alternative to karyotype testing. This new test uses pyrosequencing to quantitate relative allele strength (RAS) from single-nucleotide polymorphisms using 18 informative single-nucleotide polymorphisms markers that span the X-chromosome and one marker for the detection of Y-chromosome material. Cutoff ranges for heterozygous, homozygous, or out-of-range RAS values were established from a cohort of 496 males and females. Positive TS scoring criteria were defined as the presence of homozygosity for all 18 markers or the presence of at least one out-of-range RAS value. To determine the validity of this rapid test for TS detection, the authors undertook a large-scale study using DNA from 132 females without TS and 74 females with TS for whom karyotypes were available. TS was identified with 96.0% sensitivity and 97.0% specificity in this cohort. Buccal swab DNA was also tested from a group of 19 females without TS and 69 females with TS. In this group, TS was identified with 97.1% sensitivity and 84.2% specificity.
    Read the PubMed abstract

    To read more about "Turner syndrome"

    J Clin Endocrinol Metab ; 699-705 ; March 2011

    Patient Management and Therapy

    Myelomeningocele: prenatal surgery may improve outcomes for infants
    Myelomeningocele is the most common form of spina bifida. A randomized trial compared in utero repair (before 26 weeks of gestation) with standard postnatal repair. The report is based on results for 158 pregnancies (prenatal surgery group: 78; postnatal surgery group: 80). Fetal or neonatal death or need for placement of a cerebrospinal fluid shunt by the age of 12 months occurred in 68% of the infants in the prenatal-surgery group and in 98% of those in the postnatal-surgery group (relative risk, 0.70). Actual rates of shunt placement were 40% in the prenatal-surgery group and 82% in the postnatal-surgery group (relative risk, 0.48). Prenatal surgery also resulted in improvement in the composite score for mental development and motor function at 30 months and in improvement in hindbrain herniation by 12 months and ambulation by 30 months. However, prenatal surgery was associated with an increased risk of preterm delivery and uterine dehiscence at delivery.
    Read the PubMed abstract

    To read more about "Spina bifida"

    N Engl J Med ; 993-1004 ; 17 March 2011
    Sickle cell anemia: inhaled nitric oxide for acute treatment of pain crisis showed no reduction of time to resolution
    Some preliminary studies suggested that inhaled nitric oxide could be beneficial for vaso-occlusive pain crisis (VOC) associated with sickle cell disease. The authors tested inhaled nitric oxide gas to reduce the duration of VOC in patients with sickle cell disease. This prospective, multicenter, double-blind, randomized, placebo-controlled clinical trial included 150 participants, who received either inhaled nitric oxide gas or inhaled nitrogen placebo. There was no significant change in the time to resolution of painful crisis between nitric oxide and placebo groups, with a median time to resolution of crisis of 73.0 hours and 65.5 hours, respectively. There were no significant differences in secondary outcome measures, including length of hospitalization, visual analog pain scale scores, cumulative opioid usage, and rate of acute chest syndrome. Inhaled nitric oxide was well tolerated, with no increase in serious adverse events.
    Read the PubMed abstract

    To read more about "Sickle cell anemia"

    JAMA ; 893-902 ; 2 March 2011
    Pancreatic neuroendocrine tumor: treatment with sunitinib malate extends survival
    The investigators tested sunitinib malate (a multitargeted tyrosine kinase inhibitor) in a multinational, randomized, double-blind, placebo-controlled phase 3 trial in patients with advanced, well-differentiated pancreatic neuroendocrine tumors. A total of 171 patients were randomly assigned (in a 1:1 ratio) to receive best supportive care with either sunitinib at a dose of 37.5 mg per day or placebo. As more serious adverse events and deaths were observed in the placebo group as well as a difference in progression-free survival favoring sunitinib, the study was discontinued early. Median progression-free survival was 11.4 months in the sunitinib group as compared with 5.5 months in the placebo group. A Cox proportional-hazards analysis of progression-free survival according to baseline characteristics favored sunitinib in all subgroups studied. The objective response rate was 9.3% in the sunitinib group versus 0% in the placebo group. At the data cutoff point, 9 deaths were reported in the sunitinib group (10%) versus 21 deaths in the placebo group (25%). The most frequent adverse events in the sunitinib group were diarrhea, nausea, vomiting, asthenia, and fatigue.
    Read the PubMed abstract

    To read more about "Pancreatic endocrine tumor"

    N Engl J Med ; 501-513 ; 10 February 2011
    High-risk Hodgkin lymphoma: BEACOPP chemotherapy is a highly effective regimen in children and adolescents
    Dose-intensified treatment strategies for Hodgkin lymphoma (HL) may increase risk for acute and long-term toxicities, particularly in children. Early dose intensification with escalated-dose BEACOPP (bleomycin, etoposide, doxorubicin, cyclophosphamide, vincristine, procarbazine, prednisone) chemoterapy was assessed in 99 children with high-risk HL (stage IIB or IIIB with bulk disease, stage IV). Rapidity of response was assessed after 4 cycles of BEACOPP. Rapid responders received consolidation therapy with guidelines to reduce the risk of sex-specific long-term toxicities of therapy. Slow responders received 4 cycles of BEACOPP and involved field radiation therapy. Rapid response was achieved by 74% of patients. Five-year event-free-survival was 94%. There were no disease progressions on study therapy. Secondary leukemias occurred in 2 patients. Overall survival was 97%.
    Read the PubMed abstract

    To read more about "Hodgkin lymphoma"

    Blood ; 2596-2603 ; 3 March 2011

    Orphan Drugs

    CHMP gives positive opinion for prevention and treatment of angioedema attacks in patients with C1 inhibitor deficiency...
    The Committee Medicinal Products for Human Use (CHMP) in March gave a positive opinion for the orphan medicine Cinryze (C1 inhibitor) from ViroPharma, intended for the treatment and prevention of angioedema attacks in patients with C1 inhibitor deficiency. However ViroPharma is considered the same applicant as Sanquin, which holds marketing authorisations in some EU Member States for a medicine with the same composition and pharmaceutical form and overlapping indications with Cinryze. This may ultimately preclude the granting of a marketing authorisation for Cinryze.
    Learn more

    ... and approves extending indication of another product to paediatric patients with pulmonary arterial hypertension
    The CHMP also adopted a positive opinion for the application for extension of therapeutic indication for Revatio (sildenafil), an orphan medicine from Pfizer Ltd, to include paediatric patients aged one to 17 years with pulmonary arterial hypertension.
    FDA approves maintenance therapy for patients with untreated follicular, CD-20 positive, B-cell non-Hodgkin lymphoma
    In the USA, the Food and Drug Administration has approved Rituxan (rituximab) from Genentech as a maintenance therapy for patients with previously untreated follicular, CD-20 positive, B-cell non-Hodgkin lymphoma who achieve a response to rituximab in combination with chemotherapy.
    Learn more


    Courses & Educational Initiatives

    Upcoming European School of Genetic Medicine courses
    The European School of Genetic Medicine offers advanced training in the fields of genetics and genomics in medicine. Upcoming courses include the 24th Course in Medical Genetics (18‐22 May 2011). The European Society of Human Genetics (ESHG) is offering a certain number of fellowships covering the registration fee for these courses.
    For further details

    Update in Neuromuscular Disorders
    Being held from 13-16 June 2011, at the Clinical Neuroscience Lecture Theatre, National Hospital for Neurology and Neurosurgery, in London, this established paediatric and adult course is now in its fourth year. Topics to include: What’s new in Duchenne muscular dystrophy?; Cognitive and behavioural profile of Duchenne MD; Psychological effects of participation in clinical trials; Cardiac involvement in neuromuscular disease; Congenital muscular dystrophies; Mitochondrial disorders – classification and genetic basis; and much more.
    For further details

    Mental Retardation: From Clinic to Gene and Back
    Held from 4-8 July 2011 in Braga, Portugal, this course offers a structured review and update on the genetic basis of intellectual deficit, including discussion of the three main groups of genetic causes of intellectual deficit: malformation syndromes, predominantly neuromuscular disorders and metabolic diseases. Five scholarships including free registration and reimbursement of expenses up to 500 EUR will be offered (deadline: 30 April 2011).
    For further details

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

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

    3rd Goldrain Course in Prenatal Genetic Diagnosis
    The course, taking place from 15 to 21 October 2011 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. TOPICS include Techniques: Amniocentesis and amniocyte examination, chorionic villus sampling and examination, cordocentesis and fetal blood examination, pre-implantation genetic diagnosis, prenatal diagnosis from fetal DNA and cells in maternal blood, QF-PCR and MLPA, DNA-arrays, aneuploidy screening and PGD, QF-PCR as a stand-alone test. Obstetric issues: Obstetric indications for PD, prenatal dysmorphology and assessment of congenital developmental defects, PD in twins and selective fetocide, the fetal heart as a window to detect genetic problems, risk assessment for chromosomal anomalies following non-invasive prenatal testing, prenatal ultrasonic diagnosis: routine screening approach; specific examinations; fetal therapy; prenatal magnetic resonance examination. Genetic issues: genetic counseling in the context of potential prenatal diagnosis, genetic indications for PD, estimation and calculation of recurrence risks, techniques and their indications: conventional cytogenetics; molecular cytogenetics; mutation analysis; biochemical diagnosis; questionable results; mosaicism and chimaerism. Ethical considerations.
    For further details


    What's on Where?

    4th International Friedreich’s Ataxia Scientific Conference
    Date: 5-7 May 2011
    Venue: Strasbourg, France

    This conference seeks to bring together basic, translational and clinical scientists working on Friedreich’s Ataxia (FA) in order to share new data/research findings, hypotheses, and unpublished work , promote collaborations and knowledge sharing to advance progress in FA research and to support students and post-doctoral scientists who are developing their research and careers in FA.
    For further details

    2011 International Expert Meeting: Large Congenital Melanocytic Nevi/Neurocutaneous Melanocytosis
    Date: 6-7 May 2011
    Venue: Tuebingen, Germany

    This meeting will convene representatives and trainees from a wide range of disciplines to exchange theoretical and hands-on information. Such crossfertilization is expected to improve treatment options for patients with this disfiguring and potentially life-threatening disease.
    For further details

    Fourth International Congress of Myology
    Date: 9-13 May 2011
    Venue: Lille, France

    Close to 1,000 participants coming from the five continents are expected to attend this conference to obtain an update on the scientific and medical advances made in muscle science and its related disorders. Two days will focus on fundamental science and two days on clinical research. The event will provide an opportunity to learn more about the numerous therapeutic avenues being explored and by the emerging clinical trials.
    For further details

    The Third Birt-Hogg-Dubé Symposium
    Date: 11-12 May 2011
    Venue: Maastricht, Netherlands

    The aims of the Third Birt-Hogg-Dubé (BHD) Symposium are to communicate advances in the understanding, management and treatment of BHD syndrome and, for the first time, of hereditary leiomyomatosis and renal cell cancer (HLRCC), as well as to promote collaboration among researchers in these and related fields. Keynote talks, abstract presentations and a poster exhibition will cover basic and clinical research in BHD and HLRCC. Prizes for exceptional posters will be awarded. Additionally, there will be patient- and family-centred sessions.
    For further details

    12th International Conference on Thalassaemia and the Haemoglobinopathies
    Date: 11-14 May 2011
    Venue: Antalya, Turkey

    The main topics will include epidemiology and prevention; heart and vascular abnormalities; reproduction and pregnancy; quality care for quality of life; other haemoglobin disorders; haemopoietic stem cell transplantation; gene regulation and therapy; and much more.
    For further details

    Ninth European Paediatric Neurology Society Congress
    Date: 11-14 May 2011
    Venue: Cavtat (Dubrovnik), Croatia

    The programme includes basic neuroscience and neurobiology, new treatment approaches in muscular disorders, neuro-othology and neuro-opthalmology, advanced critical care and ethics in paediatric neurology as well as practical clinical knowledge in the skills of electroencephalography and electromyography via comprehensive workshops.
    For further details

    European Perspectives in Personalised Medicine
    Date: 12-13 May 2011
    Venue: Brussels, Belgium

    This conference will bring together key stakeholders of the research community and the healthcare sector to identify the developments needed in order to contribute to the research for Personalised Medicine at European and national level, in the frame of the Innovation Union and beyond. Organised by the services of the European Commission (DG Research and Innovation) in consultation with major stakeholders, the objective of the conference is to contribute to the building of a vision for 2020 and to clarify the role of EU-funded research to support progress in the area of personalised medicine. Sessions include: the basics of personalised medicine; biomarkers, clinical trials, diagnostics and treatments; and uptake in healthcare.
    For further details

    First International Symposium on Childhood, Adolescent and Young Adult Hodgkin Lymphoma
    Date: 12-14 May 2011
    Venue: Arlington, Virginia USA

    This event seeks to: provide a platform for global collaboration; establish networks of multidisciplinary caregivers; identify leaders for specific projects; promulgate tools for communication and collaboration; and develop standards of care for children with HL.
    For further details

    International Congress on Prevention of Congenital Diseases
    Date: 13-14 May 2011
    Venue: Vienna, Austria

    The Congress will provide ample opportunities to discuss the use of modern newborn screening techniques to identify various aspects of congenital disorders such as inherited metabolic, endocrine and related genetic diseases.
    For further details

    Fifth Meeting on the Molecular Mechanisms of Neurodegeneration
    Date: 13-15 May 2011
    Venue: Milan, Italy

    This International Congress is the Fifth Meeting of the series dedicated to the Molecular Mechanisms of Neurodegeneration in hereditary diseases. As in the previous edition, the Meeting is aimed at stimulating new and productive interactions among basic and clinical research groups involved in this exciting area of human genetics.
    For further details

    3rd Symposium on Disorders of Sex Development
    Date: 20-22 May 2011
    Venue: Lubeck, Germany

    Disorders of Sexual Development (DSD) constitute a group of rare, mostly heritable disorders affecting the genito-urinary tract and in most instances also the endocrine-reproductive system. This symposium “From Gene to Gender” looks at what has been learnt and what is still needed. Sessions will focus on genetics, hormones and actions, phenotype modulation, clinical aspects and more.
    For further details

    International Conference on Inherited Disorders of Muco Ciliary Clearance (Focus on PCD)
    Date: 20-22 May 2011
    Venue: Muenster, Germany

    Genetic disorders affecting muco‐ciliary clearance are rare but burdensome for affected patients. Very recently a magnitude of distinct Primary Ciliary Dyskinesia (PCD) variants and their genetic background have been identified. This disorder is also known as immotile cilia syndrome or Kartagener Syndrome. This conference will gather leading scientists and physicians involved in the diagnostics and treatment of patients with PCD, as well as affected persons.
    For further details

    Ninth Hereditary Hemorrhagic Telangiectasia International Scientific Conference
    Date: 20-24 May 2011
    Venue: Antalya, Turkey

    This biennial conference, held since 1996, is attended by a multi-disciplinary, international group of clinicians, researchers and patient association representatives with the goal of advancing research and discoveries through multi-disciplinary "cross-fertilization" and international collaboration. An attendance of approximately 300 is expected.
    For further details

    European Human Genetics Conference 2011
    Date: 28-31 May 2011
    Venue: Amsterdam, Netherlands

    Featuring sessions on mitochondrial diseases and neonatal screening, iPS cells, ciliopathy and brain, neurodegenerative diseases, genetic therapy, prenatal diagnosis, dysmorphology workshop, educational sessions on Marfan, Noonan, and Ehlers-Danlos syndromes, amongst others, and much more.
    For further details

    The World Orphan Drug Summit
    Date: 31 May – 1 June 2011
    Venue: Frankfurt, Germany

    The World Orphan Drug Summit will tackle challenges that are currently slowing the development, market authorisation and patient access to orphan drug treatments. The event will focus on delivering in-depth discussion and practical solutions to provide participants with the strategies to grow their orphan drug business.
    For further details

    The 11th Annual International Gene Forum 2011
    Date: 10-11 June 2011
    Venue: Tartu, Estonia

    The Gene Forum 2011 will bring together experts from Europe and US for discussion of the progress in the field of genetics and in particular, on interdisciplinary areas within human genetics, epigenetics, modern population genetics, biomedical informatics and personal medicine. The conference incorporates also an exhibition aimed at the biotechnology-related companies. Sessions specific to rare diseases figure on the agenda.
    For further details

    11th EUROCAT Symposium on Congenital Anomalies
    Date: 17 June 2011
    Venue: Antwerp, Belgium

    The 11th European EUROCAT symposium on congenital anomalies will focus on the prevention, registration and care of congenital anomalies. Main topics include prenatal and preconceptional care; environmental risk; and long term outcome.
    For further details

    9th International Prenatal Screening Group Congress
    Date: 19-21 June 2011
    Venue: Barcelona, Spain

    This congress brings together laboratory providers, researchers, maternal foetal medicine specialists, geneticists and others interested in the provision of prenatal screening. The meeting will expand on the past meetings of the International Down Syndrome Screening Group through the inclusion of screening for disorders with a Mendelian pattern of inheritance and other single gene disorders, identification through maternal serum biochemical markers, foetal nucleic acids in maternal circulation and ultrasound, early detection of pregnancy complications and other conditions.
    For further details

    Eighth European Cytogenetics Conference
    Date: 2-5 July 2011
    Venue: Porto, Portugal

    This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other.
    For further details

    VI Cornelia de Lange Syndrome World Conference
    Date: 27-31 July 2011
    Venue: Copenhagen, Denmark

    Offering a professional symposium during which the latest developments in research, care and treatment will be discussed, as well as a family conference.
    For further details

    Society for the Study of Inborn Errors of Metabolism – Annual Symposium 2011
    Date: 30 August – 02 September 2011
    Venue: Geneva, Switzerland

    The main scientific programme includes a joint session with the International Society for Newborn Screening (ISNS), a session on adult metabolic diseases, creatine metabolism and related disorders, gene therapy, plenary and free communications sessions, and much more.
    For further details

    European Conference on Post Polio Syndrome
    Date: 31 August – 02 September 2011
    Venue: Copenhagen, Denmark

    This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
    For further details

    3rd International Symposium on Pheochromocytoma and Paraganglioma
    Date: 14-17 September 2011
    Venue: Paris, France

    An opportunity to learn the state-of-the-art in pheochromocytoma and paraganglioma, to meet the leading experts in the field (coming from Europe, United States of America, Asia and Australia), to exchange and discuss the most recent research data as well as to develop international collaborative studies between clinical and/or academic research teams. This symposium takes place during a unique moment when key pathophysiological mechanisms and new therapeutic targets have been discovered and translated from bench to bedside. Deadline for abstract submission: 28 May 2011
    For further details

    18th Pediatric Rheumatology European Society Congress (PRES2011)
    Date: 14-18 September 2011
    Venue: Bruges, Belgium

    Offering a venue for continued education, the sharing of new research developments, and fostering academic collaboration, for clinicians, trainees, scientists and allied health professionals in the field of paediatric rheumatology. The scope of PRES2011 includes genetics, etiopathogenesis, clinical innovations and recent advances in treatment covering a wide spectrum of both common and rare rheumatic diseases in children. Deadline for abstract submission: 16 May 2011
    For further details

    5th International Conference on Birth Defects and Disabilities in the Developing World
    Date: 24-27 September 2011
    Venue: Lodz, Poland

    The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
    For further details

    Pharmaceutical Pricing and Reimbursement Information Conference 2011
    Date: 29-30 September 2011
    Venue: Vienna, Austria

    The WHO Collaborating Centre for Pharmaceutical Pricing and Reimbursement Policies in Vienna invites participants to discuss pharmaceutical policies and their practical implementation in the light of current challenges such as the economic crisis with high ranking experts and policy makers. The main topics of the conference are pricing and reimbursement of medicines in the in- and out-patient sector, interface management and the rational use of medicines from a comprehensive, international and European perspective. Orphan Drugs will be subject to several discussions.
    For further details

    12th International Congress of Human Genetics
    Date: 11-15 October 2011
    Venue: Montreal, Canada

    The Congress includes invited presentations from leading international geneticists, a variety of symposia, workshops, posters and other sessions focusing on the most important and recent developments in human genetics, including: basic and molecular genetics; genomics; epigenetics; clinical genetics; population genetics; genetic counselling; ethics; education; cancer genetics; prenatal genetics; and public health genetics.
    For further details

    Tuberous Sclerosis Complex Scientific Day
    Date: 14 October 2011
    Venue: Paris, France

    This meeting will be an opportunity for doctors and researchers to meet, to advance common projects in order to improve care of TSC patients. Participants desiring to present their work will be offered an opportunity to do so during a specific session in the end of the day.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details

    Sanfilippo Foundation Switzerland International Congress
    Date: 8-10 December 2011
    Venue: Geneva, Switzerland

    “Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 8-11 March 2012
    Venue: Hammamet, Tunisia

    This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details


    Press & Publications

    Ode to the exome (sequence)…
    Two recent articles explore the advent of next-generation sequencing technology and its impact on diagnostics for rare, inherited conditions. In the 4 March issue of Cell, the article Exome Sequencing Deciphers Rare Diseases discusses the Undiagnosed Diseases Program in the USA (learn more) focusing on the exome sequencing technology that has yielded three case diagnoses thus far (39 cases have been diagnosed in all, in addition to the identification of two new diseases, and four new genes identified for known disorders). The programme attributes its success in large part to the process of comparing patient DNA with that of other family members.

    Another article reporting on the impact of exome sequencing in the field of rare diseases appeared in the widely-read journal Science late last year. The news report describes how exome sequencing is accelerating the process of identifying the genes responsible for Mendelian diseases – all of which are rare conditions. Affordable 'Exomes' Fill Gaps in a Catalog of Rare Diseases describes in a general way how exome sequencing - technology that analyses the 1% of the genome coding for proteins - developed, and the consequent impact on identifying the cause of heretofore unknown Mendelian disorders. Despite its contribution to understanding the cause of rare inherited diseases, exome sequencing will probably eventually be replaced by whole genome sequencing, which is starting to come down in price.
    Consult the Cell abstract
    Consult the Science abstract


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Helena Kaariainen, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Christophe Roeland

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
    Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
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