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RRD (Rare Disease discovery) accelerates the triage of patients with rare diseases.

Keywords: Clinical Data, Diagnostics, Disease Management, Early Diagnosis
Type
Digital solution and service (e.g. application/digital health portal/platform/AI based system/etc.)
Short description
This web server developed by the Systems Biology and Statistical Methods group seeks to address the need to decrease the time between initial and definitive diagnosis of patients with rare diseases by facilitating initial triage and reducing the burden of the entire diagnostic process. The algorithm works by giving a ranking of rare diseases from most to least likely based on the list of symptoms displayed by the patient. Because of its configuration, this server is easily deployable in any center that has access to a computer. In addition, work is recently underway to add the genetics variant to include both common and rare genetic conditions, which further enhances the functionality of the tool. TRL: TRL 5 Protection: No protection Objective: Search for funding, business collaboration to bring the app to the market
Maturity
There is evidence for economic viability and/or of benefits to the target group of the practice. Further research/development is needed for routine use.
Countries
Spain
Geographical scope
Local
Language(s)
Spanish
Comment
Information available
Submitted in other database or repository of digital health resources that is publicly available
No

Additional information

Relations
to clinicians / care practitioners
Clinical decision support
Health data analytics (Artificial Intelligence/algorithm development and calibration/machine learning/risk stratification tools/etc.)
Primary target patient group (age)
May be used across all patient ages
Use case and care pathway positioning
Disease monitoring, treatment compliance, self-management, Early detection and early diagnosis, precision diagnosis, Prevention and wellness
Ready to be transferred to
Ready for transfer, but the practice has not been transferred yet.
Plans for cross-border implementation
Are considered and will be developed in the near future