Sequencing and Bioinformatics

Provided by SEQOIA

Seqoia

High throughput sequencing platforms, consisting of
* Analysis platform (SeqOIA-Gen) for qualification, extraction, preparation and sequencing
* Bioinformatics platform (SeqOIA-IT) for data processing, storage, archiving
* Interpretation platform (SeqOIA-LMG): brings together the expert biologists from the Genomic Medicine Laboratories (LMG) who will validate the reports of the medical analyzes of the SeqOIA Medical Biology laboratory (LBM SeqOIA).

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Directory of professionals and expert centers

Provided by ORPHANET

ORPHANET

Orphanet provides information on professionals whose activity(ies) in the field of rare diseases is (are) registered in Orphanet. This includes, for example, consultant and physicians in charge of an expert centre, biologists in a laboratory, researchers, representatives of patient organisations, coordinators of networks, principal investigators of clinical trials, managers or contact person of registries and biobanks, and experts writing or peer-reviewing data for Orphanet.

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Sequencing and Bioinformatics

Provided by AURAGEN

Auragen

Auragen offers access to very high throughput sequencing to players involved in oncology and in the management of rare diseases. DNA / RNA extraction and sequencing are carried out in the medical biology laboratory located in the premises of the HCL (Hospices Civils de Lyon). The bioinformatics processing of the sequences is carried out on the sites of the CHUGA (CHU Grenoble-Alpes) and the CLB ( Center Léon Bérard ). The data are analyzed and interpreted in the various partner establishments of the GCS by AURAGEN experts and colleagues competent in the patient’s pathology.

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Mouse models

Provided by PHENOMIN

Phenomin provides access to more than 50 mouse rare disease models. These models are useful for decrypting the mechanisms behind of the specific disease and form a platform for testing therapies

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High Throughput Screening, chemical and target libraries

Provided by PCBIS - PLATFORM OF INTEGRATIVE CHEMICAL BIOLOGY OF STRASBOURG

The Platform of Integrative Chemical Biology of Strasbourg (PCBIS) gives access to High Throughput Screening (HTS), chemical libraries and target libraries to academic and private laboratories. The platform evaluates the ADME properties of active molecules: Ciblothèque

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Trial management support

Provided by EUROPEAN CLINICAL RESEARCH INFRASTRUCTURES NETWORK (ECRIN)

ECRIN

• trial management operations (interaction with competent authorities & ethics committees, project management, monitoring, vigilance, data management)
• clinical trial tools (outcome measures, regulatory database, site locations, risk-based monitoring)

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RaDiCo supports the implementation of national programs in any country that would need it, by sharing its expertise in database management and implementation of national cohorts on rare diseases. Beyond its own projects, RaDiCo promotes the commitment of French actors to European and international projects needing the implementation of borderless cohorts. We advise and support you for the setting up of propositions and for the management of your programs in this field..).

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Paediatric clinical trial management

Provided by PedCRIN

PEDCRIN

PedCRIN developed a series of tools (WP3) and procedures to support the setup and the management of multinational neonatal and paediatric clinical trials in Europe. These tools are developed to train and support researchers and clinicians so they can establish, run, and manage both paediatric and neonatal multinational clinical trials in a more effective and easier way. The removal of barriers to trial management will speed up the evaluation of new and improved therapies.

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