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July 2016

Medical Genetics Summer School 2016 – From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research

25 July 2016 - 27 July 2016
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen. Located in the Women’s Hospital (Frauenklinik), Calwerstr. 7, 72076
Tübingen, Germany
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The Summer School addresses precisely this challenge and covers the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems, and to finally guide development of therapies and (personalized) clinical applications. In particular, we will focus on neurological disorders like Parkinson’s disease, dystonias, ataxias, and related brain disorders by analyzing genomic NGS data from patients during hands-on workshops and showing examples of how to translate research findings into the clinic. The…

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September 2016

Summer School and Workshop on Rare Diseases at the Istituto Superiore di Sanità

26 September 2016 - 30 September 2016
Istituto Superiore di Sanità, Viale Regina Elena 299
Rome, 00161 Italy
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This autumn, the National Centre for Rare Diseases (CNMR) of the Istituto Superiore di Sanità, Rome, Italy is organising two training events on rare disease registries: The 4th International Summer School on Rare Disease and Orphan Drug Registries (26-28 September 2016). The event is addressed to health professionals, researchers, clinicians and representatives of patient associations involved in establishing rare disease patient registries. Using the Problem-Based Learning methodology, we introduce the attendees to the aims and needs of clinical research registries.…

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October 2016

Course on Next Generation Sequencing in Lisbon

24 October 2016 @ 14:00 - 27 October 2016 @ 13:00
Instituto Nacional de Saude, Av. Padre Cruz, 1649
Lisboa, 016 Portugal
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3GbTest and RD-Connect are organising a 4-day course on Next Generation Sequencing, taking place in Lisbon, Portugal on 24-27th October 2016. International speakers will elaborate on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions. The event will include a hands-on training session on the RD-Connect platform. 3GbTest was funded until Aug 2015 under EU FP7 and aimed at introducing whole genome sequence analysis technologies (3Gb-testing) into diagnostics of genetic diseases. The project continues to organise…

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Training course “Variant Effect Prediction”

31 October 2016 @ 13:00 - 3 November 2016 @ 12:30
Capsis Astoria Heraklion Hotel, Plateia Eleftherias
Heraklio (Iraklio), Crete Greece
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The course will be a blend of theory and practice presented by invited speakers and abstract-selected participant contributions. Practical sessions will combine academic and commercial demonstrations providing participants hands-on experience with computational analysis tools. The demonstrations will cover variety of tools, including RD-Connect, Alamut, Ensmbl and more.

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November 2016

Bring Your Own Data: WikiPathways, nanopubs, and the Rett Syndrome

3 November 2016 @ 08:00 - 17:00

To study the Rett Syndrome, Maastricht University combines experimental research and bioinformatics. In this research, nanopublications have a lot to offer to WikiPathways, which contains many statements backed by literature. The goal of this BYOD is to expose these statements as FAIR nanopublications with source, so that they can be linked to other data sets.

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Workshop “Ethically and legally sustainable partnership between industry and public funded research initiatives: PPP and Rare diseases as a case study”

7 November 2016 @ 10:00 - 8 November 2016 @ 14:00
Eklundshof, Eklundshovsvägen 7
Uppsala, 752 37 Sweden
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In recent years, universities have promoted research partnerships with industry to maximize efforts in the search for results and therapies. However, there is fear and concern regarding the ethical challenges, conflicts of interest and exploiting of public resources. Uppsala University, RD-Connect and CHIPme invite you to discuss these issues in a two-day workshop looking at current practices for public private collaborations.

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EMC only

Biannual meeting of the Executive Management Committee

9 November 2016
Leiden University Medical Center, Leiden, Netherlands + Google Map

The Executive Management Committee (EMC) consists of work package leaders and is responsible for the day-to-day operational management of the project alongside the coordination team.

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February 2017

The 3rd IRDiRD conference in Paris

February 8 - February 9
Université Pierre et Marie Curie (UPMC) Jussieu, 4 Place Jussieu
Paris, 75005 France
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The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France at the conference center of Université Pierre et Marie Curie (UPMC) Jussieu.

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March 2017

3rd conference on European Reference Networks

March 9 @ 09:00 - March 10 @ 18:00
Lithuanian Exhibition and Congress Centre LITEXPO, Laisvės pr. 5
Vilnius, 04215 Lithuania
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The Conference will focus on the presentation of the newly approved European Reference Networks.

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Rare Diseases Registries Workshop in Madrid

March 21 @ 12:30 - March 22 @ 14:00
Hospital Universitario La Paz, Paseo de la Castellana, 261
Madrid, 28046 Spain
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The workshop will bring together all the key stakeholders in the development of rare disease registries and will include issues, such as Health Policies on Rare Diseases, rare disease-related European initiatives, interoperability, best practices, challenges and examples of European rare disease registries.

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