Shortening the path to Rare Disease diagnosis by using newborn genetic screening and digital technologies

August 11th 2020

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.

In their proposals, applicants should:

  • describe how the outputs of the project will contribute to the listed impacts and include, wherever possible, baseline, targets and metrics to measure impact.
  • outline how the project plans to leverage the public-private partnership model to maximise impact on innovation, research & development; regulatory, clinical and healthcare practices, as relevant. This could include a strategy for engagement with patients, healthcare professional associations, healthcare providers, regulators, health technology assessment (HTA) agencies, payers etc., where relevant.
  • describe how the project will impact the competitiveness and growth of companies including SMEs.

Detailed information about this call can be found here.

August 11th 2020

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.

In their proposals, applicants should:

  • describe how the outputs of the project will contribute to the listed impacts and include, wherever possible, baseline, targets and metrics to measure impact.
  • outline how the project plans to leverage the public-private partnership model to maximise impact on innovation, research & development; regulatory, clinical and healthcare practices, as relevant. This could include a strategy for engagement with patients, healthcare professional associations, healthcare providers, regulators, health technology assessment (HTA) agencies, payers etc., where relevant.
  • describe how the project will impact the competitiveness and growth of companies including SMEs.

Detailed information about this call can be found here.