The Diagnostic Scientific Committee (DSC), Interdisciplinary Scientific Committee (ISC), and Therapies Scientific Committee (TSC) are jointly establishing a Task Force on “Bridging Diagnostics to Therapies and Care” with the following objectives:
- Create a list of critical elements required for the transition from diagnosis to therapy, including barriers, opportunities, and recommendations for implementation.
- Create a roadmap of tasks required to identify and implement existing therapies.
- Create a roadmap, incorporating existing projects, of strategies to engage in new therapy identification and development
- Publish a manuscript in a peer-reviewed journal describing findings, promoting roadmaps, identifying existing gaps and recommending research priorities.

We are looking for members to populate this Task Force with the below expertise in one or more of the following areas:
- Diagnostic expertise including pathologists and clinical geneticists
- Industry developer of a rare disease therapeutic, optimally multiple therapy types, e.g. pharmacologic, device, gene editing, etc.
- Clinical scientist with long experience conducting therapeutic trials
- RD Healthcare economist
- Health services research expert
- Patient representatives (optimally one from an earlier/newer condition, one from a more mature/successful condition)
- Thought leaders in field
- Representative of a therapeutics developer in a low/middle income country
- Translational researcher bridging bench to bedside
- RD standards, ontologies and digital health
- Clinical care (including care pathways) for rare diseases
- Implementation science
The usual time commitment includes monthly 1-hour teleconferences, one digital workshop (0.5 days), regular email correspondence and collaborative working, with the opportunity to co-author peer reviewed article(s).
If you are interested in taking part in this activity, please send a CV, biosketch and letter of motivation clearly describing your expertise to Scientific Secretariat scientific.secretariat[at]irdirc.org before the 9th of February, 2025.
Please add in the subject of your email the reference for this call Ref: TF-LDT.
Only selected candidates will be contacted.