SOLVE-RD development of project towards a medical application services

Provided by SOLVE-RD

Rare Diseases Models & Mechanisms – Europe (RDMM-Europe): This brokerage service will catalyse connections between people discovering new genes in rare disease patients and basic scientists who can study those genes and pathways in model organisms. Solve-RD brokerage service are to:
*provide functional validation of human genetic variants that cause disease;
*supplement clinical disease gene discoveries by generating functional data so as to get higher impact publications;
*develop insights into potential rationale for treatment (e.g. identification of candidate drug targets) via knowledge of a disease gene pathway; and
*establish longer term collaborations between basic scientists and clinicians that will lead to subsequent grant funding in support of outstanding basic and/or applied research

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SOLVE-RD disease/ translational resource services

Provided by SOLVE-RD

Clinical Patient Management System (CPMS) is a secure IT-Platform used by clinicians across Europe to discuss patient cases without the patients having to travel. The ERN Experts (from one or more ERNs) gather in multidisciplinary panels and use CPMS to carry out e-consultations of rare and complex cases. Patient medical documents can be safely uploaded to the CPMS after a consent form has been signed by the patient.
Integrated tools in CPMS allow peer-to-peer communication, viewing of digital documents and recording expert contributions. This promotes an active collaboration, sharing knowledge and experience within and across ERNs. The health professionals are ultimately aiming an outcome either as a diagnosis, treatment, clinical trial or other.

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