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September 2015

3rd International Summer School on Rare Disease and Orphan Drug Registries

21 Sep 2015 - 23 Sep 2015
National Centre for Rare Diseases, Istituto Superiore di Sanità Viale Regina Elena
Rome, 299 Italy
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This is one of two events intended to promote the development of rare disease registries complying with the IRDiRC  and EU Recommendations, and to support cooperation among different registry stakeholders (EPIRARE RD-Connect), and coordination with registries developed within national plans in the EU in the field of rare diseases. This initiative is endorsed by ICORD. This year the program of the International Summer School will be focused on the specific aims and needs of registries oriented to clinical research, comprising…

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RD-Connect Workshop Data linkage and ontologies

24 Sep 2015 - 25 Sep 2015
National Centre for Rare Diseases, Istituto Superiore di Sanità Viale Regina Elena
Rome, 299 Italy
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This is one of two events intended to promote the development of rare disease registries complying with the IRDiRC  and EU Recommendations, and to support cooperation among different registry stakeholders (EPIRARE RD-Connect), and coordination with registries developed within national plans in the EU in the field of rare diseases. This initiative is endorsed by ICORD. The RD-Connect workshop will allow attendants to learn new concepts and tools for applying ontologies to their data and make them interoperable with other data…

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March 2016

NeurOmics annual project meeting 2016

6 Mar 2016 - 9 Mar 2016
UAB Campus Hotel, Bellaterra
Barcelona, Spain
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The annual project meeting for all NeurOmics partners will take place in March 2016 near Barcelona and will run back-to-back with RD-Connect. Registration will open at the beginning of December 2015.

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April 2016

Curating the Clinical Genome

22 Apr 2016 @ 8:00 am - 24 Apr 2016 @ 5:00 pm
Wellcome Genome Campus, Hinxton
Cambridge, United Kingdom
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Registration is now open for Curating the Clinical Genome 2016. This meeting will be of interest to a wide group of medical genomics researchers, clinicians practising genomic medicine, companies developing solutions for clinical genomics and researchers interested in genomic data sharing. The sharing of genetic data from clinical diagnostic testing is vital for delivering on the promise of genomic medicine. This conference will bring together several initiatives to develop common standards, share best practices, integrate the latest research findings and…

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June 2016

International Meeting on Spastic Paraparesis and Ataxias

23 Jun 2016 @ 8:00 am - 25 Jun 2016 @ 5:00 pm
Institut du Cerveau et de la Moelle épinière, 47/83 boulevard de l’Hôpital
Paris, 75013 France
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€2 - €400

Ataxias and spastic paraplegias are opposite ends of a continuum of neurological disorders. The fifth international meeting on spastic paraparesis and ataxias includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias) and short talks or poster presentations from junior researchers. Opportunities of exchanges on the topics of genetics, physiopathology and treatment approaches is a key occasion for advancing research for such rare disorders. This meeting is organized by the members…

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July 2016

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

25 Jul 2016 - 27 Jul 2016
Woman’s Hospital, Calwerstr.
Tübingen, 72076 Germany
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€250

Identifying disease-causing genes represents a major focus in current medical genetics research, and next-generation sequencing technology is profoundly changing the way of diagnostics and therapeutics. Coping with the underlying informational complexity requires multidisciplinary efforts that generate synergies through cross-disciplinary research at the nexus of medicine, biology, and informatics. With this Summer School, we address precisely this challenge and cover the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems,…

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September 2016

6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting

8 Sep 2016 @ 8:00 am - 10 Sep 2016 @ 5:00 pm
NH Laguna PalaceViale Ancona 2 30172 Venice Mestre Italy, Viale Ancona 2 30172 Venice Mestre
Venice, 30172 Italy
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Abstract submission from 1 March - 30 April 2016

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February 2017

IRDiRC 3rd Conference

February 8 - February 9
Paris, France + Google Map

International Rare Diseases Research Consortium (IRDiRC). IRDiRC will organize its 3rd IRDiRC Conference in Paris, France on February 8-9, 2017.

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