Call for experts

IRDiRC has four Scientific Committees, covering Diagnostics, Therapies, Interdisciplinary, and Regulatory aspects of rare disease research.

The IRDiRC Diagnostics Scientific Committee (DSC) brings together international experts in clinical genetics, genomics, bioinformatics, molecular diagnostics, and biochemistry to advance IRDiRC’s Goal 1. The committee works to shorten the diagnostic journey for people with rare diseases by addressing barriers to diagnosis, accelerating rare disease gene discovery, and promoting global collaboration, data sharing, and innovative diagnostic approaches for undiagnosed and unsolved cases.

As such, we are looking for two rare disease experts with the following profiles:

(1) Rare disease diagnostic scientist

(2) Patient advocate with a focus on access to diagnosis

Interested candidates should have:

• Proven track record of interest, experience and previous work in the field of rare disease, or with expertise that is directly transferrable to rare disease.
• Strong understanding of regional and global rare diseases landscape
• Commitment to collaborative, multidisciplinary, and international working, with the ability to engage constructively across sectors and cultures
• Availability and preparedness to actively participate and contribute to the work of the DSC. This includes monthly teleconferences, an annual in-person meeting, and ongoing committee activities requiring proactive remote participation. 

Interested candidates are invited to send their resume, biosketch and letter of motivation to scientific.secretariat[at]irdirc.org before 1st September 2026. This position is on voluntary basis.