April 2015  ●   Issue 14


Focus on RD-Connect bioinformatic tools


Data analysis and processing: creation of new bioinformatics tools

The rapidly increasing number of new omics projects is resulting in the generation of an unprecedented volume of data. These data are useless unless we can harness the power of sophisticated computer software - bioinformatics tools - to analyse, filter and interpret them. In addition, linking the omics data with phenotypic data accurately annotated using standardized codes and ontologies is essential for interpretation of the data. Within RD-Connect a dedicated work-package, led by Christophe Béroud at Aix-Marseille University, focuses on the development of bioinformatic tools. The development of such tools will aid data interpretation, data mining and knowledge discovery and help facilitate the discovery of new genes, pathways and therapeutic targets. This work package has already produced several systems that are now available for the scientific community. Partners in the collaborating projects NeurOmics and EURenOmics are also developing software tools and systems addressing aspects of relevance to their work.

The following bioinformatics tools and other related resources are being developed within or will be made available through the NeurOmics, EURenOmics and RD-Connect consortia. Further information is available on the RD-Connect website by clicking on the relevant tool name below.

Alamut Batch: is an efficient high-throughput human variant annotation engine for studies ranging from gene panels to exome NGS analyses.

Alamut Focusis an interactive variant filtration application for NGS analysis. Alamut Focus is fully compatible with Alamut Batch and Alamut Visual.

Alamut Visual: is an intuitive graphical gene browser visualizing well-curated and clinically oriented data gathered from reliable public databases.

Alamut Functional Annotations (ALFA): is a gene regulation prediction software tool designed to identify genomic variations located in non-coding DNA that may be involved in gene regulation processes.

COEUSis a Semantic Web Application Framework that combines a set of algorithms to streamline the creation of new semantic web-based knowledge management systems.

Diseasecard: is a mature collaborative portal focused on the integration and dissemination of genetic and medical information regarding rare genetic diseases.

Bio Relations and Intelligence Network (BRAIN): enables users to create mind maps that visualize the relations between biological concepts, such as genes and diseases. This makes it possible to access the data sources all at once, circumventing the need to visit them individually.

GeneGridis a tool for identifying relevant variants from exome or whole genome sequencing that is being developed by Genomatix, a partner in the EURenOmics consortium. The software can be used for case/control scenarios or trio analyses. It can be applied for cancer studies as well as rare disease research.

Human Splicing Finder (HSF)combines 12 different algorithms to identify and predict mutations’ effect on splicing motifs including the acceptor and donor splice sites and the branch point and auxiliary sequences known to either enhance (Exonic Splicing Enhancers) or repress splicing (Exonic Splicing Silencers).

PhenomeCentral: is a collaborative effort which aims to address the common challenge of exome and genome sequencing in both the research and clinical settings. Through a remote matching API for finding genotypically and phenotypically similar patients, Phenomecentral enables clinicians and scientists to share information about patients with similar phenotypes and genotypes.

PhenoTipsis a user-friendly open source software tool that enables clinicians to collect and analyze phenotypic information for patients with genetic disorders using the Human Phenotype Ontology.

The Rare Diseases Registry Framework (RDRF): has many desirable features which include its ability to create multiple registries within the same framework, patients are defined once but can belong to more than one registry, and the ability for curators to create data elements dynamically well after the registry has been defined, enabling the registry to adapt to the evolving requirements of data capture.

UMD-Predictoris a new computational combinatorial system that efficiently annotates cDNA substitutions of all human transcripts for their potential pathogenicity.

VarAFT (Variant Analysis and Filtration Tool)permits end-users to annotate, analyze and highlight causative mutations based on a large panel of filtration options.

Yabi: is an online research environment that provides rare disease researchers with an intuitive, easy to use web-based environment for creating, running and managing bioinformatics analysis workflows.


Creation of IRDiRC Recommended: a label to highlight tools, standards and guidelines that contribute to rare disease research development

Following intense brainstorming exercises conducted by the working groups of the International Rare Disease Consortium (IRDiRC), the need to identify pre-competitive resources, which should be better known and used by research communities, emerged in order to speed up research and development processes. The Executive Committee decided to establish a label to highlight tools, standards and guidelines contributing to IRDiRC objectives.

The IRDiRC Recommended label is a quality indicator, based on a specific set of criteria. Any tool / standard / guideline compliant with the criteria set forth is entitled to receive the label. IRDiRC Recommended is a public label which could and should be made visible on and by the resource, giving users an assured guarantee of its quality and appropriateness. The selected tool / standard / guideline should also have a process in place for quality control and life cycle management, be financially viable for three years following its label accreditation and provide documented evidence of its core impacts e.g. number of users, number of visits. Moreover, the tool / standard / guideline should be freely available and must not be a commercial product.

Applications for the label will be peer-reviewed and submitted for approval by the Executive Committee of the IRDiRC.  The resources awarded the “IRDiRC recommended” label will be highlighted on the IRDiRC website, on the Orphanet website and in the OrphaNews.

Further information about IRDiRC Recommended including the application process and application form can be found here.

 ~Antonia Mills and Lillian Lau. Orphanet, Paris, France




Gateways to the FANTOM5 promoter level mammalian expression atlas

Lizio et al., (2015). Genome Biology.

FANTOM (Functional Annotation of Mammalian Genomes) is an international research consortium established by Dr. Yoshihide Hayashizaki, the director of the RIKEN Omics Science Center, and his colleagues in 2000. The object of this consortium is to assign functional annotations to the full-length cDNAs that were collected during the Mouse Encyclopedia Project at RIKEN. FANTOM has since developed and expanded over time to encompass the fields of transcriptome analysis. Lizio and the the FANTOM consortium, which includes  RD-Connect partner Peter-Bram ’t Hoen and his team at LUMC, have recently published a review article about the FANTOM5 (Functional Annotation of Mammalian Genomes 5) project which investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using cap analysis of gene expression (CAGE). Based on manual curation of sample information and development of an ontology for sample classification, the team have assembled data into a centralized data resource. This resource contains web-based tools and data-access points for the research community to search and extract data related to samples, genes, promoter activities, transcription factors and enhancers across the FANTOM5 atlas. The FANTOM5 project is an exciting resource that will help with gene annotation in RD-Connect.

A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces

Baynam et al., (2015). American Journal of Medical Genetics.

In this paper, RD-Connect partners Gareth Baynam, and other Australian partners from RD-Connect and NeurOmics, present the results of an investigation of a familial germline MTOR mutation in three Aboriginal Australian siblings with a unique phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome. A gain-of-function mutation in MTOR was identified and represents the first reported human condition due to a germline, familial MTOR mutation. This study illustrates the importance of developing genomic references, particularly in an era of next generation sequencing, for underrepresented populations to prevent diagnostic delay. Finally, depending on the phenotypic evolution in this family, there may be consideration of an mTOR inhibitor as a targeted repurposing therapeutic agent.

Hemizygosity for SMCHD1 in facioscapulohumeral muscular dystrophy type 2: Consequences for 18p deletion syndrome

Lemmers et al., (2015). Human Mutation.

Facioscapulohumeral muscular dystrophy (FSHD) is typically an autosomal dominant inherited form of muscular dystrophy (MD) that affects the skeletal muscles of the face, scapula and upper arms. In more than 95% of known cases of FSHD, the disease is associated with contraction of the D4Z4 repeat in the 4q35 subtelomeric region of Chromosome 4. A second form of FSHD (FSHD2) has been reported with a phenotype indistinguishable from FSHD in which no pathological changes at the 4q site are found. FSHD2 cases are reported to be linked to mutations in the SMCHD1 gene on chromosome 18 which leads to reduced levels of SMCHD1 protein, and subsequently, hypomethylation of the 4q D4Z4 region. In this paper, NeurOmics partners Lemmers et al., (2015) and his team from LUMC show how approximately 1:8 individuals with 18p deletion syndrome may be at risk of developing FSHD as like FSHD2, they too only have one copy of the SMCHD1 gene. Their findings raise the possibility that 18p- cases are at risk of developing FSHD.

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Lossos et al ., (2015). Neurology.

In this paper by Lossos et al., (2015), which was co-authored by NeurOmics partner Alexis Brice (Institut National de la Santé et de la Recherche Médicale),  the clinical, molecular, and cell biological findings from studies of a family with an autosomal recessive form of hereditary spastic paraplegia characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN) are presented. Hereditary spastic paraplegia is one of the ten diseases which NeurOmics focuses on.  Lossos et al., (2015) used a combination of whole-genome linkage analysis and exome sequencing to map the disease locus and to identify the responsible gene. The group demonstrated that the childhood onset SPOAN-like phenotype with slow progression into adulthood could be mapped to a locus on chromosome 1q and identified a homozygous donor splice-site mutation in the IBA57 gene which encodes the mitochondrial iron-sulfur (Fe/S) protein assembly factor IBA57. These findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in human disease.

Podocyte dysfunction in atypical haemolytic uraemic syndrome.

Noris et al., (2015). Nature Reviews Nephrology.

Atypical hemolytic-uremic syndrome (aHUS), is a disease that primarily affects kidney function. Genetic and acquired abnormalities causing dysregulation of the complement alternative pathway contribute to aHUS. In this paper, EURenOmic partners Noris et al., (2015) discuss the relationship between aHUS, podocyte dysfunction and the resultant proteinuria has not been adequately investigated. Mutations in the diacylglycerol kinase ε (DGKE) gene has been linked to podocyte dysfunction. DGKE deficiency was originally thought to trigger aHUS through pathogenetic mechanisms distinct from complement dysregulation; however, emerging findings suggest an interplay between DGKE and complement systems. Podocyte dysfunction with nephrotic-range proteinuria can also occur in forms of aHUS associated with genetic or autoimmune complement dysregulation without evidence of DGKE mutations. Furthermore, proteinuric glomerulonephritides can be complicated by aHUS, possibly as a consequence of podocyte dysfunction inducing endothelial injury and prothrombotic abnormalities.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report.

Eckardt et al., (2015). Kidney International.

In this review, EURenOmics partners including Corinne Antignac (INSERM 983) and Oliver Devuyst (University of Zurich) discuss the rare autosomal dominant tubulointerstitial kidney disease which is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including ‘Medullary Cystic Kidney Disease (MCKD) type 2’, ‘Familial Juvenile Hyperuricemic Nephropathy (FJHN)’, or ‘Uromodulin-Associated Kidney Disease (UAKD)’ for UMOD-related diseases and ‘MCKD type 1’ for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term ‘Autosomal Dominant Tubulointerstitial Kidney Disease’ (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

Further details available here:

Lizio M, Harshbarger J, Shimoji H, Severin J, Kasukawa T, Sahin S, Abugessaisa I, Fukuda S, Hori F, Ishikawa-Kato S, Mungall CJ, Arner E, Baillie JK, Bertin N, Bono H, de Hoon M, Diehl AD, Dimont E, Freeman TC, Fujieda K, Hide W, Kaliyaperumal R, Katayama T, Lassmann T, Meehan TF, Nishikata K, Ono H, Rehli M, Sandelin A, Schultes EA, 't Hoen PA, Tatum Z, Thompson M, Toyoda T, Wright DW, Daub CO, Itoh M, Carninci P, Hayashizaki Y, Forrest AR, Kawaji H; FANTOM consortium. Gateways to the FANTOM5 promoter level mammalian expression atlas.Genome Biology, 16, 22.

Baynam G, Overkov A, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J (2015), A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. American Journal of Medical Genetics. Online ahead of print.

Lemmers RJ, van den Boogaard ML, van der Vliet PJ, Donlin-Smith CM, Nations SP, Ruivenkamp CA, Heard P, Bakker B, Tapscott S, Cody JD, Tawil R, van der Maarel SM (2015). Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome. Human Mutation. Online ahead of print. 

Lossos A, Stümpfig C, Stevanin G, Gaussen M, Zimmerman BE, Mundwiller E, Asulin M, Chamma L, Sheffer R, Misk A, Dotan S, Gomori JM, Ponger P, Brice A, Lerer I, Meiner V, Lill R (2015). Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology 84, 659-667.

Noris M, Mele C, Remuzzi G (2015). Podocyte dysfunction in atypical haemolytic uraemic syndrome. Nature Reviews Nephrology 11, 245-252

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O (2015). Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report. Kidney International.Online ahead of print.


Other news


NeurOmics and Huntington’s disease

The exomes of 1,100 undiagnosed patients are currently being analysed as part of the NeurOmics project with the aim to improve understanding of neuromuscular and neurodegenerative diseases. Samples taken from patients who already have a diagnosis, including those with Huntington’s Disease (HD), are also undergoing RNA analysis as part of the project.

The goal of NeurOmics is to discover new disease-causing and disease-modifying genes in these disease categories. The hope is that this in turn will lead to the development of new therapies, the improved phenotyping of patients, an increase in the number of patient cohorts, an expansion of inclusion criteria for clinical trials and the development of new biomarkers for clinical application.

Within the project, Sarah Tabrizi of University College London leads the research on HD. Her group is working with Willeke van Roon-Mom’s team at Leiden University on the identification of transcriptomic (RNA-level) biomarkers of HD stage. Quantitative, peripheral biomarkers of this kind will be very valuable in the ongoing development of disease-modifying therapies. 140 TRACK-HD and 150 Leiden subjects have undergone transcriptome sequencing and analysis of the data has just got underway.

Much of the variability in HD onset and progression is thought to be related to age and CAG repeat number. However, studies suggest that some of the remaining variability is accounted for by other genes, and the hope is that identifying these may provide valuable insights into the pathogenic mechanism of HD at the cellular level. With her clinical fellow Davina Hensman and collaborators including Lesley Jones, Peter Holmans and Douglas Langbehn, Tabrizi aims to identify such genetic modifiers. 48 TRACK-HD subjects have undergone whole exome sequencing, and another 191 have undergone SNP genotyping. The analysis and integration of these datasets, including their interrogation for variants that have been linked to HD progression or onset, is underway.

In a third strand of research, Tabrizi and student James Miller are investigating the mechanisms behind innate immune dysfunction in HD. Myeloid cells are known to produce significantly higher levels of pro-inflammatory cytokines when stimulated with lipopolysaccharide, in HD patients as compared to controls, and 150 samples taken from patients and controls have been sent for RNA sequence analysis at deCODE genetics.

Meanwhile, van Roon-Mom’s team is looking for longitudinal RNA changes in a group of patients and controls from the outpatient clinic in Leiden. Four years ago, they analysed patterns of gene expression in samples taken from these patients, and proposed a panel of genes that could serve as an HD biomarker in peripheral blood. Now, by analysing changes in those gene expression patterns in the same individuals, they hope to gain insights into HD progression and validate the biomarkers they identified previously.

Further information about the project is available here.

~ Cathy Turner, Communication and Dissemination Officer, NeurOmics


2nd EURenOmics Annual meeting

The second annual meeting of the EURenOmics group was held from 8th to 10th April 2015 in Heidelberg, Germany. The venerable university lecture halls provided an ideal setting for a very productive meeting that was focused on hearing progress from the different work packages, exchanging ideas for current challenges and networking to improve future collaborations.

The first meeting day was devoted mainly to genetics with a stimulating keynote lecture, progress reports from NGS and whole exome sequencing and insights into whole genome sequencing. Of special interest was an extended session on the ethical aspects of whole exome/genome sequencing and how to deal with unsolicited findings. The input of philosophers/ethicists and patient representatives was very valuable here and participants received a lot of food for thought.

The second day started with parallel sessions on deep phenotyping - with insights into structured capture of disease manifestations - and animal models. An extensive session on systems biology gave several insights into how new analysis strategies can help to order complex data generated in genetic analyses. Work-package meetings and presentations of best abstracts were helpful in the discussion of on-going work. Collaborators from RD-Connect project provided valuable updates on the progress of the project, Omics analysis platform and phenotyping issues.

Proceeding the meeting, a six hour training course provided hands-on training by Genomatix on their software suite for Chip-Seq, RNA-Seq, pathway and exome analysis.

The working dinner with beautiful views of the ancient castle and the sunset over the Rhine valley provided an enjoyable opportunity to network with the project partners. At the final general assembly many collaborators stated that discussions and meetings had been productive and helpful at this strategic mid-way point in the project.  Next year’s meeting is to be held in Paris at Hôpital Necker.

~Charlotte Gimpel, Center for Paediatric and Adolescent Medicine
Universitätsklinikum Freiburg 


Genotranslation: Interpretation of genome data in diagnostics

Following a successful training course on next-generation sequencing in a diagnostic setting, Hotel Pyramida in Prague was the venue of a 3Gb-TEST symposium held on 22nd April 2015. Almost 200 participants attended the meeting. The topic of this meeting was 'Genotranslation', a recently introduced word referring to the process of describing a person’s health and disease status on the basis of his/her genome or exome sequence. The process includes variant calling, CNV estimation and data interpretation using available knowledge and prediction software.

The meeting, hosted and opened by Milan Macek (Prague), started with an overview by Bert Bakker (Leiden) on NGS applications in diagnostics and their costs. Non-invasive Prenatal Testing (NIPT) is one of the first Whole Genome Sequencing (WGS) applications, but others will follow soon. The price of a genome sequence will drop to a level at or even below 1000€. This includes all wetlab costs, but no dry lab costs (genotranslation), which may also be considerable.

Sergi Beltran Agullo showed that CNAG in Barcelona has excellent facilities to perform Whole Exome Sequencing (WES) and WGS. According to Sergi, high diagnostic success rates depend not only on the informatics pipeline but also on a good phenotype ontology and on data sharing. WES is a very cost-effective diagnostic procedure, but WGS yielded the most even coverage distribution.

The RD-Connect platform's data sharing capabilities were discussed by both Sergi Beltran Agullo and Hanns Lochmüller (Newcastle), and Hanns showed several practical examples of where sharing has resulting in a higher diagnostic yield, resulted in new insights into disease progression or enabled further research to take place that would not otherwise have been possible. This is of crucial importance for rare diseases. Hanns Lochmuller explained that 8% of the population has a rare disease. Together, rare diseases are a serious health problem. Sharing genome and phenome data is very important for rare disease research and diagnostics.

The future of WGS in the clinic was discussed by Olaf Riess from Tubingen. He warned not to expect too much from NGS in the short term, but predicted that genome analyses will be among the most important routine tests in the longer term. He concluded with a very clear statement: “Nobody would do surgery without X-ray; why do we start treatment without knowing the genome?”

~Bart Janssen, Leiden, The Netherlands


Keep up-to-date with news about rare kidney disease research: the launch of the EURenOmics newsletter

The first edition of the EURenOmics newsletter is available to download now. The newsletter contains lots of information about what has been going on within EURenOmics over the past year including the launch of the Internet-based Membranous Nephropathy Registry by EURenOmics Consortium partners in France, the Netherlands and the UK; the collaboration between EURenOmics partners with RD-Connect and NeurOmics to create the charter on links to the sharing of biological material and data between researchers and institutions; and the discovery of a novel inheritance pattern – mutation-dependent autosomal inheritance – by EURenOmics partner Corinne Antignac in Paris.

EURenOmics focuses on rare kidney diseases and utilizes a wide array of high-throughput technologies in the quest to find novel genes causing or predisposing to kidney diseases, characterize molecular signatures unique to individual disease entities, identify prognostic biomarkers, and screen for potential drug candidates. The research efforts of EURenOmics are focused on the following 5 groups of kidney diseases:

• Steroid resistant nephrotic syndrome

• Membranous nephropathy

• Tubulopathies

• Complement disorders such as haemolytic uraemic syndrome

• Congenital kidney malformations

 If you would like to receive further editions of the EURenOmics newsletter, please send an email to info@eurenomics.eu. The first edition is available for download here.


The Genetics Clinic of the Future

The Genetics Clinic of the Future (GCOF) is a newly funded EU project whose kick-off meeting took place recently in Brussels. Technology used for next-generation sequencing (NGS) of DNA has rapidly developed over the past five years so that the cost and time it takes to read an individual's DNA is now dramatically lower. Consequently, new genome technologies like NGS are steadily being adopted for use in the diagnosis of genetic disorders.

The idea behind the GCOF project is to map the opportunities and challenges that surround the clinical implementation of these technologies so that the needs, interests and concerns of patients and other relevant stakeholders are taken into account in the future.

Complex questions on issues such as data sharing and informed consent need to be addressed due to the confidential nature of personal data produced by such technologies. Through the GCOF Project, the hope is to be able to understand how to harness the potential of these technologies for health care while respecting fundamental ethical and regulatory frameworks.

To ensure that the expectations and needs of society, and in particular patients, are met in the broad implementation of these technologies, the GCOF will engage all relevant stakeholders, for example patient representatives, genomics researchers, clinical geneticist, bioinformaticians, policy makers, ethics experts etc. in dialogue and consequently produce recommendations on how to incorporate technologies such as NGS into the diagnosis journey.

Within this project, RD-Connect partners EURORDIS will collaborate with experts from other project partners to carry out a survey on patient perspectives. The results of this survey will be published as a white paper, which will include recommendations for new approaches to the collection, storage and distribution of clinical data.

~Eva Bearryman, Junior Communications Manager, EURORDIS




PhD fellowship research funding opportunity from Kindness for Kids

For research into rare paediatric diseases that makes use of EuroBioBank and RD-Connect resources

Kindness for Kids is a charitable foundation with the objective to improve the quality of life of children affected by rare diseases. The foundation provides social support to the children and their families by organizing vacation camps throughout Germany. On the other hand, kindness for kids funds scientific research to develop new therapies as well as to improve health care provision for those affected.

The foundation announces a PhD fellowship to contribute to therapy development for rare paediatric diseases. Kindness for kids is looking for a PhD project that develops or tests a new treatment, identifies therapeutic targets or employs a screening platform in the area of rare paediatric diseases using in vitro experiments. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study.

Deadline for submissions: June 15th 2015.

Further information and guidelines on how to apply for this fellowship can be found here.


Upcoming events

For further information on future events please visit the events page on the RD-Connect website.


2nd EATRIS Conference, Building Bridges in Translational Medicine, 27 – 28 May 2015,  Zuiderkerk, Amsterdam

The conference will bring together key international experts and stakeholders in translational research. Over two days they will present and discuss the current landscape in translational research, together with the new developments that EATRIS-ERIC contributes to the field. The conference will be a unique opportunity to interact with a wide range of key stakeholders: patient organisations, research funders, governmental representatives, as well as industry and regulatory agencies. Participants will learn more about translational services developed by EATRIS-ERIC and will be invited to discuss the translational field with high-level keynote speakers. RD-Connect impact work package leader, Kate Bushby, will be a keynote speaker at this event. Further information available here.

The European Society of Human Genetics (ESHG) conference 2015, June 6 - June 9 2015, Glasgow, Scotland

The European Society of Human Genetics (ESHG) conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference has become one of the premier events in the field of human genetics with over 3.000 delegates, more than 215 oral presentations, 13 workshops, 8 educational sessions, and over 150 exhibiting companies. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet. A number of RD-Connect partners including Impact work package leader Kate Bushby (Newcastle University, United Kingdom), RD-Connect partner Milan Macek (Prague, Czech Republic) and Scientific Advisory Board member Peter Robinson (Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Germany, will be attending this meeting with poster presentations and talks. Our registries partners from Istituto Superiore di Sanità have had an abstract entitled: Linked data approach: some results and considerations from the first RD-Connect Bring Your Own Data meeting in Rome" accepted after a selection between 2200 abstracts. Also, a plenary talk will be given by RD-Connect platform developers from CNAG’s on the RD-Connect platformFurther information is available here.

Managing and Integrating Information in the Life Science, 14-18 September,  LUMC Leiden, Netherlands

This course introduces modern techniques for the management of life science data and knowledge for bioinformatics applications. After following this course attendees should be able to start creating their first applications based on these technologies or make more informed design decisions for their current application. The course is aimed at bioinformaticians who would like to learn about leading-edge data and knowledge integration solutions.

 Course objectives:

1. How the ‘Linked Data’ principle works and how it can be applied for ‘meaningful’ data integration.

2. How to expose your local data with rich metadata for use in other systems.

3. How Web Services and workflows can be used to analyse distributed data.

4. How to make publishable artefacts from your data for which you can get scientific credit.

RD-Conenct partner, Marco Roos from LUMC Leiden is a confirmed speaker and coordinator alongside Katy Wolstencroft, Jesse van Dam, Frank van Harmelen, Paul Groth and Egon Willighagen.

Click here for registration details

Further information available here

EMBO Workshop - Molecular Mechanisms of muscle growth and wasting in health and disease, 20 September-25 September 2015, Congressi Stefano Franscini, Monte Verità, Ascona, Switzerland

This meeting will focus on the molecular mechanisms involved in muscle wasting diseases including cachexia, sarcopenia and muscular dystrophies. Its focus on disease aspects in skeletal muscle, its interactive format and its small size makes this meeting unique.

 The conference will take place on September 20-25, 2015 at the Conference Centre Monte Verità, Ascona, Switzerland, the venue of choice for Congressi Stefano Franscini, the international conference platform of ETH Zurich.

 The conference is limited to 120 participants. As we expect more applicants, we highly encourage to submit an abstract, which will help us to select participants and speakers of short talks. 

 Deadline for abstract submission is Friday 12. June, 2015

 Further information is available here.

3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy, September 24-26, 2015, Ottawa, Canada  

The CNMD is hosting the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy on September 24-26, 2015.  After two previous successful neuromuscular disease conferences in Ottawa, the 2015 conference promises to offer an outstanding program emphasizing recent breakthroughs in basic and translational research and clinical discoveries in neuromuscular disease.

The Conference is structured for both basic researchers and clinicians and will feature internationally-recognized invited speakers highlighting advances in all aspects of NMD research, including novel techniques to diagnose NMD, biology of disease pathogenesis, expanding clinical phenotypes, basic muscle and stem cell biology, and promising therapies to treat these devastating disorders. As in past years, trainees are encouraged to attend and participate – selected abstracts will be featured for platform presentation during the scientific sessions, and all posters are eligible for top poster awards.

Confirmed speakers include RD-Connect coordinator Hanns Lochmüller, RD-Connect Associated partner Kym Boycott and NeurOmics infrastructure workpackage leader Volker Straub

 Further information is available here.


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