The European Society of Human Genetics (ESHG) Conference 2015, Glasgow, Scotland

The European Human Genetics Conference, organised by the European Society of Human Genetics (ESHG), is now in its 49th year and 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. This year, the ESHG European Human Genetics Conference is being held for the very first time in Glasgow, Scotland. A number of partners and associated partners from RD-Connect, NeurOmics and EURenOmics will be presenting posters, talks and taking part in panel discussions during this four-day event. 

RD-Connect data sharing platform for rare diseases presented at the ESHG European Human Genetics Conference

The ESHG European Human Genetics Conference is an important milestone for RD-Connect’s online genomic analysis platform, which has been selected for oral presentation on June 9th within the Diagnostic Next Generation Sequencing (NGS) session (Clyde Auditorium, 11:00 - 12:30). In this session Steve Laurie from the Centro Nacional de Análisis Genómico (CNAG) will present an abstract entitled "The RD-Connect platform includes the first 360 analysed exomes linked to phenotypic data and integrates user friendly tools for rare disease variant prioritization". Steve will start by giving an overview of the project and the RD-Connect platform, which aims to harmonise and securely integrate clinical data with biosample and -omics data. The talk will then focus on the genomics side of the platform, which already includes over 360 NGS exomes linked to detailed phenotype data stored in PhenoTips using the Human Phenotype Ontology. The exomes have been processed with RD-Connect’s standard analysis pipeline, which exceeds 99% precision and sensitivity. The platform runs on a Hadoop cluster and uses technologies such as ElasticSearch, Postgres, Scala and Angular.js, making it highly configurable and efficient. The exomes can be combined in a very flexible manner and variants can be filtered and prioritized through the user-friendly front-end using the most common quality, genomic location, effect, pathogenicity and population frequency annotations, including CADD and ExAC. Moreover, additional tools such as UMD Predictor, DiseaseCard, Alamut Functional Annotation (ALFA) and gene-disease relationships in nanopublication format have been partially or fully integrated. The project aims to publicly release the first version of the platform during 2015 for authorized users and will gladly accept submissions from other omics research projects in the future.

For further information about the RD-Connect platform, please attend the Diagnostic NGS Concurrent Session at 11:30 am on Tuesday 9th June in the Clyde Auditorium

 ~ Steve Laurie andSergi Beltran, Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain

EURORDIS - providing a voice for rare disease patients: visit booth 112 at the ESHG European Human Genetics Conference

RD-Connect partner EURORDIS  is a non-governmental federation of over 500 rare disease organisations, representing 49 different countries and covering over 4,000 rare diseases. It is therefore the voice of 30 million patients affected by rare diseases throughout Europe. Within RD-Connect, NeurOmics and EURenOmics, EURORDIS coordinates the joint Patient Advisory Council and provides an important link between the patient organisations of the diseases addressed by the projects as well as rare disease patients globally. Specifically, EURORDIS consults with patients with rare diseases on the various issues relating to the research on –omics and the linkage of patient data across different infrastructures and across borders, e.g. ethical, societal issues, sensitive data protection, access and use of patient information and samples and feeds the results back into the projects.

To discuss the role of EURORDIS and the patient voice in RD-Connect, NeurOmics and EURenOmics visit booth #112 over the course of the congress.

~ Mathieu Boudes, EURORDIS

The linked data approach: some results and considerations from the first RD-Connect Bring Your Own Data meeting in Rome

Patient registries, biobanks and bioinformatic data represent key resources for Rare Diseases to increase the chances of a timely and accurate diagnosis, improve patient management, tailor treatments and facilitate clinical trials. Unfortunately, most rare disease registries and biobanks still keep their data “siloed”. In order to explore the potential of the "linked data approach" in RD research the 1st RD-Connect Bring Your Own Data (BYOD) meeting was held in Rome in 26-27 November 2014. The meeting brought together in particular linked data experts as well as RD-Connect, NeurOmics and EURenOmics partners and collaborators. Basic principles of the approach became clear within the limit of the two-day BYOD meeting, even if there are possibilities of improvement. Data linkage among registries and between registries, biobanks and bioinformatics data allows researchers to get more rapid responses to cross-resource questions improving the use of available information on rare diseases.

A second BYOD workshop is being held in Rome between 24 -25th September 2015. Further information and on-line registration form is available here.

For further information about linked data approach in RD-Connect visit poster PS16.33 on Sunday 7th June 2015 10:30am

~ Claudio Carta PhD, National Center for Rare Diseases Istituto Superiore di Sanità Rome, Italy

European Genome-phenome Archive (EGA): a secure archive for genomic and phenotypic data

The European Genome-phenome Archive (EGA) facilitates the secure storage and controlled distribution of genetic and phenotypic data, for the purpose of biomedical research. Our collections include major reference data for rare and common diseases, including data derived from the UK10K project, Blueprint and the International Cancer Genome Consortium (ICGC), as well as control sets for use in addition to the public reference panels, such as the 1000 Genomes project. As of January 2015, the EGA securely stores ~1.6 petabytes of data derived from ~600K unique samples across ~1300 distributable datasets. The EGA have implemented fundamental changes to facilitate data discovery and improve data dissemination to enhance the user experience of EGA users. The new ‘Data Mart’ webpage enables a user to sort, filter and select files based on ‘Study’, ‘Dataset’ or ‘Sample’ centric criteria before initiating a download. We have also introduced a data streaming service to disseminate data files. The service provides robust, reliable and flexible downloading capabilities, enabling the user to download files direct from the EGA website or using the command line. The new services also enable the user to query all EGA public metadata through a REST API, as well as downloading metadata from the EGA website. Future plans include providing the user with the facility to generate ‘BAM slices’ for viewing in a genome browser. The EGA is maintained by European Bioinformatics Institute (EMBL-EBI) and the Center for Genomic regulation (CRG). Raw data from projects contributing to RD-Connect is stored in perpetuity at the EGA.

For further information please visit poster PS16.21 on Sunday 7th June at 10:30 am.

An international satellite workshop on whole-population preconception carrier screening 

An organizing committee comprised of RD-Connect and NeurOmics partners including Nigel Laing (NeurOmics), Volker Straub (NeurOmics), Hugh Dawkins (RD-Connect) and Gareth Baynam (RD-Connect) has put together a stimulating programme for this workshop on preconception carrier screening, a screening method that provides carrier couples with knowledge which can inform their reproductive choices. Preconception carrier screening has been carried out for decades for specific groups with high carrier frequencies for specific mutations – for example Tay-Sachs disease in the Ashkenazi community. Next generation sequencing is making it technically possible to screen large numbers of genes simultaneously for known and novel pathogenic variants and some countries are establishing population-wide and in some cases pan ethnic preconception carrier screening programs. A Satellite Workshop on whole population preconception carrier screening is being held in association with the European Society of Human Genetic Annual Scientific Meeting in Glasgow, Scotland on Wednesday 10th June.

The workshop will explore the issues, benefits, challenges and risks associated with whole population preconception carrier screening. Speakers include Professor Joel Zlotogora who heads the Israeli program, Angus Clarke, Sir Tom Shakespeare, Pascal Borry, Madhuri Hegde, Panos Kanavos and others who will bring multiple points of view on whole population preconception carrier screening, including health economics, disability rights and technology.

Details of the Workshop and the ability to express interest in attending the Workshop are available through the ESHG2015 website. Spaces are limited so please send expressions of interest early.

~ Nigel Laing (Centre for Medical Research, University of Western Australia) and Hugh Dawkins (Office of Population Health Genomics (OPHG), Department of Health Western Australia

Other project-specific ESHG conference highlights – posters, talks, workshops and educational sessions with representation from RD-Connect, NeurOmics and EURenOmics partners

Selected posters of interest:

Sunday 7th June 2015, 10:30 am

PS08.47. Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with extreme microcephaly, short stature, and developmental delay

J. Richer, Children Hospital of Eastern Ontario, Ottawa, ON, Canada

PS10.35. STIM1 mutations at a common amino acid residue (p.340) identified in two individuals with a predominant muscle disease phenotype

E. A. Harris, Newcastle University John Walton Muscular Dystrophy Research Centre

PS11.071.  A Germline mTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly and Small Thoraces

G. S. Baynam, University of Western Australia, Perth, Australia

PS11.107. Efficient clearance of progerin through autophagy induction and SRSF-1 downregulation under MG132 treatment in Hutchinson-Gilford progeria syndrome

K. Harhouri, Aix Marseille Université, Inserm UMR_S 910 - GMGF, Marseille, France

PS16.21.  European Genome-phenome Archive (EGA): a secure archive for genomic and phenotypic data

J. Almeida-King, European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, United Kingdom,

PS16.33. Linked data approach: some results and considerations from the first RD-Connect Bring Your Own Data meeting in Rome

C. Carta, National Center for Rare Diseases Istituto Superiore di Sanità (ISS), Rome, Italy

PS16.47. Cafe Variome: Comprehensive Data Discovery for Rare Disease Diagnostic Networks and Research Consortia.

O. Lancaster, University of Leicester, Leicester, United Kingdom

Monday 8th June 2015, 10:30 am

PM03.10. Prioritization of candidate variants using targeted next generation sequencing of 208 candidate genes in congenital anomalies of the kidney and urinary tract

G. van Haaften, UMC Utrecht, Utrecht, Netherlands

PM03.28. Targeted panel sequencing of 399 renal genes reclassifies primary disease diagnoses in young end stage renal disease patients

A. M. van Eerde, Department of Medical Genetics, University Medical Center, Utrecht, the Netherlands, Utrecht, Netherlands

PM03.32. KOUNCIL: kidney-oriented understanding of correcting ciliopathies

M. F. Stokman, UMC Utrecht, Utrecht, Netherlands

PM06.44. Homozygous mutations in MFN2 are a novel cause of multiple symmetric lipomatosis in patients without a MERFF mutation

S. L. Sawyer, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada

PM07.12. A DGKE intronic mutation explains genetically unsolved cases of familial atypical hemolytic uremic syndrome

C. Mele, IRCCS - Mario Negri Institute for Pharmacological Research, Ranica (Bergamo), Italy

 PS09.011. Diagnosing ataxia using a Next-Generation-Sequencing gene panel

J. K. Bickmann, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany

PS09.029. Screening of CHCHD10 in a large French cohort with frontotemporal dementia and amyotrophic lateral sclerosis.

A. Chaussenot, Department of Medical Genetics, National Centre for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France

PM09.042. Next Generation Sequencing in neurogenetics - our experience

I. Novakovic, Faculty of Medicine, Belgrade, Serbia

PS09.043. Detection of disease-causing mutations in cases of unexplained early-onset ataxia by using panel based next-generation sequencing

F. Harmuth, Institute of Medical Genetics and Applied Genomics, Tuebingen, Germany

PS09.063. Uniparental disomy causing hereditary spastic paraplegia: Paternal disomy in FA2H causing homozygous SPG35 in two non-consanguine families

T. W. Rattay, Hertie-Institute and Center for Neurology, University of Tübingen, Tübingen, Germany

PM09.066. Spastic paraplegia: massive sequencing of 74 genes reveals a world of missing genes to uncover

S. Morais, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal

PM09.074. The hunt for genes in undetermined Leukodystrophies

I. Dorboz, INSERM, Paris, France

PM09.128 - Dominance and recessiveness, two faces of the same coin? Illustration with two new genes in autosomal dominant spinocerebellar degenerations

M. Coutelier, ICM, NEB, Sorbonne UPMC Univ Paris 06, INSERM, UMRS_1127, CNRS 7225 & EPHE, Paris, France

PM09.134. Unexpected molecular genetic findings by Next-Generation-Sequencing in a young ataxia patient

K. Grundmann, Institute of Medical Genetics and Applied Genomics, Tübingen, Germany

PM10.06. Identification of causal genes in Congenital Myasthenic Syndrome by whole exome sequencing

E. O'Connor, Newcastle University John Walton Muscular Dystrophy Research Centre, United Kingdom

PM10.20. LMNA related Congenital Muscular Dystrophy (L-CMD) - clinical review of patients diagnosed at the Newcastle MRC centre for Neuromuscular Diseases in the last 10 years

M. Bertoli, Newcastle University John Walton Centre for Muscular Dystrophy Research Cenrtre, United Kingdom

PM10.26. A large deletion affecting TPM3, causing severe nemaline myopathy

K. Kiiski, The Folkhälsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Haartman Institute, Helsinki, Finland

PM10.36. Clinical targeted exome (gene panel) approach advances the diagnosis of myopathies

S. Gorokhova, Aix Marseille Université, INSERM, GMGF UMR_S 910, Marseille, France,

PM14.038. Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton

M. Krahn, Aix Marseille Université, INSERM UMR_S 910, GMGF, Marseille, France

PS14.043. Reshaping genetic diagnostics of rare diseases with transition to genome-wide sequencing approaches - experience of Slovenian centre for Mendelian genomics

A. Maver, Clinical Institute of Medical Genetics, Ljubljana, Slovenia

PM14.050. Data sharing and interpretation amongst Dutch genome diagnostic laboratories

K. J. van der Velde, UMC Groningen, Groningen, Netherlands

PM14.106.  Standardising the approach to recruitment and phenotyping in rare diseases - experiences from the Genomics England Rare diseases programme   

A. D. Devereau, Genomics England, London, United Kingdom

PM14.108. Rapid screening for monogenic diseases in severely ill newborns and infants using whole genome sequencing  

 W. S. Kerstjens-Frederikse, University of Groningen, University Medical Center, Department of Genetics, Groningen, Netherlands

PS16.61. Variant data from more than 100,000 samples at the European Variation Archive

G. I. Saunders, European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Cambridge, United Kingdom

PS16.15. Orphanet: a database of genes with clinical significance in rare diseases

S. Janmaat, INSERM, US14 - Orphanet, Paris, France

PM16.48. Creation of 'IRDiRC Recommended', a label to be used to highlight tools, standards and guidelines contributing to IRDiRC objectives

S. Aymé,IRDiRC, Paris, France

PM17.28. Combined overexpression of 3 microRNAs leading to autophagy dysfunction as a new pathophysiological mechanism in Hutchinson-Gilford Progeria Syndrome

P. Roll, INSERM UMR_S910, Marseille, France

Selected talks, workshops and educational sessions of interest:

Friday 5th June

10:00 - 17:00

Satellite meeting 

EuroGentest – ESHG and 3Gb-TEST Satellite meeting: From genetic testing to genome diagnostics: quality, clinical utility and counselling issues  

Saturday 6th June

10:30-12:00

Educational Sessions 4: Care for Rare Diseases

ES4.1. Patient perspective’s to rare diseases

Y. Le Cam, EURORDIS, France

ES4.2. European rare disease policies- what does it really mean for planning services?   

K. Bushby, Newcastle University, United Kingdom

Concurrent Session (C06): Neuromuscular disorders: Forth Room, 18.30

C06.1. Neurogenetic disease diagnostics by targeted capture and next generation sequencing

N. G. Laing, University of Western Australia, Nedlands, Australia

C06.3. Plastin 3, a human protective modifier is highly upregulated in iPSC-derived motoneurons in asymptomatic individuals and rescues spinal muscular atrophy in mice

B. Wirth, Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, Cologne, Germany

C06.2. The SMCHD1 mutation spectrum in Facioscapulohumeral muscular dystrophy

ML. van den Boogaard, Leiden University Medical Center, Leiden, Netherlands

C06.4. Analysis of the Gdap1 knockout mice reveals calcium homeostasis and mitochondrial dynamics defects in the Charcot-Marie-Tooth disease pathogenesis.

A. Civera-Tregón, Centro de Investigación Príncipe Felipe, Valencia, Spain

C06.5. Junctophilin-1 expression levels could modify the effects of GDAP1 mutations in Charcot-Marie-Tooth disease

 E. Calpena, CIBER de Enfermedades Raras (CIBERER)

Sunday 7th June 

0830:-10:00

Educational Session 5: Automating Clinical Genetics 

ES5.1. GeneConsult, Phenomizer, Face2gene  with short presentations how they work and test cases to compare the tools 
P. Robinson, Universitätsklinikum Charité, Berlin, Germany

15.30 - 17.00

Workshops

WS05. Pre-conception carrier testing

WS06. Blurred boundaries between clinic and research

S. Woods, Newcastle University: RD Connect - Patient Expectations and Concerns

WS09. Global Alliance for Genomics and Health

Monday 8th June 

15.30 - 17.00, Workshops

WS10. Practical Bioinformatics Whole exome sequence analysis

P. Robinson, Universitätsklinikum Charité, Berlin, Germany

WS16. Research, clinic and everyday life: new roles for patients and citizens

Speakers:

A. Brookes, Leicester University, United Kingdom

M.Boudes, EURORDIS, Paris, France

Tuesday 9th June 

09.00 - 10.30

Plenary Session PL3: Interactive Debate: Should all geneticists have their genome sequenced

K. Bushby, Newcastle University, United Kingdom

Concurrent Sessions (C19), Diagnostic NGS

11:15, Forth Room

PMPCA Mutations cause Abnormal Mitochondrial Protein Processing in Patients with Non-Progressive Cerebellar

V. Delague, Inserm, UMR_S 910, Marseille, France

11:30, Clyde Auditorium

The RD-Connect platform includes the first 360 analysed exomes linked to phenotypic data and integrates user-friendly tools for rare disease variant prioritization

D. Piscia, Steven Laurie, CNAG, Barcelona, Spain

Around 300 million people worldwide are estimated to suffer from one of the 6000+ known rare diseases. However, rare disease research faces particular challenges because patient populations, clinical expertise, and research communities are small in number and highly fragmented. To overcome these challenges the EU FP7-funded RD-Connect project, in collaboration with NeurOmics and EURenOmics, is building a platform to harmonise and securely integrate clinical data with biosample and -omics data. The genomics side of the platform already includes over 360 NGS exomes linked to detailed phenotypes stored in PhenoTips using the Human Phenotype Ontology. Exomes were processed with v1 of the RD-Connect standard analysis pipeline for genomics, which exceeds 99% precision and sensitivity when compared to the NIST reference set of calls for NA12878. The platform runs on a Hadoop cluster and uses technologies such as ElasticSearch, Postgres, Scala and Angular.js, making it highly configurable and efficient. The exomes can be combined in a very flexible manner and variants can be filtered and prioritized through the user-friendly front-end using the most common quality, genomic location, effect, pathogenicity and population frequency annotations, including CADD and ExAC. Moreover, additional tools can be integrated at the database level or at the interface through API queries. To date, UMD Predictor, DiseaseCard, Alamut Functional Annotation (ALFA) and gene-disease relationships in nanopublication format have been integrated. The project aims to publicly release the first version of the platform during 2015 for authorized users and will gladly accept submissions from other projects in the future. 

12:00, Lomond Auditorium

A Human Rights Approach to International Data Sharing?

B.M. Knoppers, McGill University, Montreal, QC, Canada

The DNA Bank: high-security bank accounts to protect and share your genetic identity

J.T. den Dunnen

Human Mutation

In this thought-provoking invited commentary published in the recent edition of Human Mutation, Johan T den Dunnen (Departments of Human & Clinical Genetics Leiden University Medical Center, Leiden, Netherlands) discusses the concept of “The DNA Bank” – a resource, much like that of a financial bank, where individuals can deposit and store genetic information in a secure and easily accessible fashion. The idea behind the DNA Bank, as explained by den Dunnen, is to address the current situation in which an individual has little knowledge about their DNA information, can rarely access it and has hardly any control over its use. A DNA bank would allow data from any genetic analysis, e.g. whole genome sequencing for diagnostic purposes, to be transferred into the DNA account. The account holder can then decide where and when this information can be accessed and used. This commentary raises lots of questions around DNA data sharing and the right of patients to use and take control of the information that essentially makes them who they are. Many of these areas are also explored within RD-Connect though our dedicated Ethical, Legal and Social Issue (ELSI) workpackage.

Autosomal dominant polycystic kidney disease: the changing face of clinical management

Ong ACM, Devuyst O, Knebelmann B, Walz G on behalf of the ERA-EDTA Working Group for Inherited Kidney Diseases

The Lancet

Autosomal dominant polycystic kidney disease is one of the most prevalent monogenic human disorders and is also the most common of the inherited renal cystic diseases. Although first reported 500 years ago, this disorder is still regarded as untreatable and its pathogenesis is poorly understood despite much study. During the past 40 years, however, remarkable advances have transformed our understanding of how the disease develops and have led to rapid changes in diagnosis, prognosis, and treatment, especially during the past decade. The authors of this review, including EURenOmics Tubulopathies workpackage leader, Oliver Devuyst (University of Zurich) summarise the key findings, highlighting recent developments, and look ahead to the changes in clinical practice that will likely arise from the adoption of a new management framework for this major kidney disease.

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Zech M, Lam DD, Francescatto L, Schormair B,  Salminen AV,  Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J

American Journal of Human Genetics

Dystonia is a movement disorder that is characterized by involuntary muscle contractions. It can affect any part of the body and is the third most common movement disorder after Parkinson’s disease. Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown. In this paper published by Zech et al., (2015) in May’s edition of the American Journal of Human Genetics, Hanns Lochmüller, RD-Connect coordinator, and NeurOmics investigator, is amongst the authors who, through whole genome analysis in three families with early-onset segmental isolated dystonia, identified compound heterozygous mutations in the α3-subunit of COL6A3, a collagen VI gene associated previously with muscular dystrophy. Strikingly, all affected individuals had at least one pathogenic allele in exon 41, including an exon-skipping mutation that induced an in-frame deletion. This suggests that perturbation of this specific region might be necessary to develop isolated dystonia. The involvement of a collagen gene in isolated dystonia highlights the extracellular matrix as a functional compartment in dystonia and substantially expands the scope for further research and drug discovery for this debilitating disorder. This is an unexpected molecular link between neurodegenerative and neuromuscular disorders which are at the centre of research for NeurOmics.

 Full text available here:

Johan T. den Dunnen (2015). The DNA Bank: high-security bank accounts to protect and share your genetic identity. Human Mutation In Press

Ong ACM, Devuyst O, Knebelmann B, Walz G on behalf of the ERA-EDTA Working Group for Inherited Kidney Diseases (2015). Autosomal dominant polycystic kidney disease: the changing face of clinical management. The Lancet. 385, 1993–2002

Zech M, Lam DD, Francescatto L, Schormair B,  Salminen AV,  Jochim A, Wieland T, Lichtner P, Peters A, Gieger C, Lochmüller H, Strom TM, Haslinger B, Katsanis N, Winkelmann J (2015). Recessive mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia.  American Journal of Human Genetics. American Journal of Human Genetics. In Press 

Meeting report from the 13th Mutation Detection meeting in Leiden

Knowledge from Sharing: a session co-organised by RD-Connect and the Global Alliance for Genomics and Health

At the 13th Mutation Detection meeting in Leiden, there was a special session co-organized by RD-Connect and the Global Alliance for Genomics and Health (GA4GH) on data sharing and integration for rare diseases. The theme was "Knowledge from Sharing". In the context of the main topic of the meeting, sharing means sharing of genetic variants that may cause or modify disease. A key conclusion of the meeting was that there is no such thing as variant of unknown significance, but rather there are variants of insufficient sharing. Matchmaking activities with the goal of finding multiple patients sharing the same variant or variants in the same gene, are key to pinpoint the causal variants. GA4GH’s Beacon and Matchmaker Exchange projects have been started with the aim of facilitating data sharing, as illustrated by Peter Goodhand (Canada, steering committee GA4GH). The RD-Connect platform, demonstrated by Ivo Gut (Spain, leading RD-Connect platform development), is participating in the matchmaker exchange and data beacon activities and facilitate queries on the presence of distinct genetic variants in the patients‘ genome / exome sequencing data stored in the RD-Connect database. Barend Mons (Netherlands, head of interoperability for the ELIXIR European Research Infrastructure) stressed the importance of data interoperability standards and redefined the concept of data sharing: "Data sharing is not about physically pumping data around, but about seamless and automated interchange between different dispersed and previously disconnected efforts (such as LOVD, ClinVar and EVA for genetic variants)." Mats Hansson (Sweden, leading RD-Connect’s work on ethical, legal and social issues) presented the RD-Connect data sharing charter and code of practice, which balances a patient’s privacy and autonomy with the need for access to medical treatment and prevention of illness, requiring cutting-edge research on patient data and samples [insert link to publication: Eur J Hum Genet. 2015. Finally, Milan Macek (Czech Republic, RD-Connect’s impact board and Rare Disease Patient and Ethics Council (RD-PEC)) addressed the importance of engaging patients in rare disease research: “Patients can be great advocates of data sharing, provided that security and privacy of their data are ensured.  Moreover, patients may add skills that are not well represented by the research community, such as entrepreneurship and crowdfunding.“

 ~ Peter-Bram ‘t Hoen, Leiden University Medical Center

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.

Job opportunity at EURORDIS: Research Infrastructure Projects Manager (RIPM), EURORDIS Headquarters, Paris, France

The main scope of the post includes the management of the RD Connect project. Additional responsibilities include representing EURORDIS in several pre-clinical research consortia such as the European Platform for Rare Disease Registries. A few such consortia and networks are described below. Additional responsibilities to represent EURORDIS in similar pre-clinical research networks may be progressively added

The ideal candidate will have 3-5 years of relevant professional experience in a European or international academic environment, preferably in the non-profit, humanitarian or health sectors.

Deadline for submissions: 25/06/ 2015

If you are interested in applying for this position, please visit the EURORDIS website for further information.

The 3rd International summer school on rare disease and orphan drug registries Istituto Superiore di Sanità, Rome, Italy, 21-23rd September

RD-Connect partners at theIstituto Superiore di Sanità, Rome, Italy will be hostingan International Summer School which will be focused on the specific aims and needs of registries oriented to clinical research, comprising the study of the natural history of diseases, the assessment of treatment effectiveness and post-marketing surveillance of orphan drugs.

The School will train participants on the methodologies and resources available for the establishment of a clinical research registry and on the implementation of successful strategies to ensure long time sustainability of the registry, including data sharing and dissemination activities.

The Workshop will consist of brief frontal presentations and practical working groups where participants will learn to make their data interoperable with other sources and databases. The working groups will get together registry owners and bio-informatics experts.

This event is open to health professionals, researchers, medical specialists, medical students and representatives of patient associations, who are involved or intend to establish a rare disease patient registry. A selection process will apply based on the participant’s background and role with reference to registry activities.

Further information is 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.