The European Commission has launched through the Funding & Tenders website the call "Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies".
The overall objective of this call topic is to shorten the path to RD diagnosis by using newborn / paediatric (infants during their first weeks of life) genetic screening; and, via application of advanced digital technologies that enable rare disease diagnosis / identification. The latter might require consolidation of existing fragmented efforts.
The specific objectives are:
- Assessment and development of a comprehensive, strategic overview of existing converging RD resources e.g. databases, registries (such as the EU RD platform), natural history projects, platforms, reference networks, rare disease academic centers of excellence (e.g. European Reference Networks (ERNs)), and initiatives for evaluation / identification of potential collaboration and synergies;
- Federation of available RD databases into a RD metadata repository amenable to machine learning or other advanced digital tools;
- Co-creating a sustainable strategy for newborn genetic screening and pilot it.
The deadline for the first stage of submitting project proposals is on September 29, 2020, and the second stage is on March 17, 2021.
More details about this source of financing can be found by accessing the Funding & Tenders website: https://ec.europa.eu/info/funding-tenders/opportunities/portal/screen/opportunities/topic-details/imi2-2020-23-05;freeTextSearchKeyword=;typeCodes=1;statusCodes=31094501,31094502,31094503;programCode=H2020;programDivisionCode=null;focusAreaCode=null;crossCuttingPriorityCode=null;callCode=H2020-JTI-IMI2-2020-23-TWO-STAGE;sortQuery=submissionStatus;orderBy=asc;onlyTenders=false;topicListKey=topicSearchTablePageState?fbclid=IwAR32MBZiWXJkQNrPJGkqRfrdqVgwziby09yu8v1pZyOeW0slWhSEjIAvaa8