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Chan et al. Rare Dis Orphan Drugs J 2023;2:28 https://dx.doi.org/10.20517/rdodj.2023.23 Page 3 of 8

Each member organization nominates a representative who is part of the Consortium Assembly (CA) that
acts as the overall governing committee overseeing IRDiRC activities. From this assembly, a Chair and Vice-
Chair are elected for time-limited terms to help manage the day-to-day operations of IRDiRC. Three
Constituent Committees (CC) representing Funders (FCC), Patient Advocates (PACC), and Companies
(CCC), whose membership is drawn from the CA, act as coordinating bodies for the constituents that they
represent and help to identify gaps and priorities, execute activities aligned with their space, and report back
to the CA on scientific and programmatic needs. In addition to the Constituent Committees, IRDiRC has
four Scientific Committees (SCs) that represent key areas in RD research: Diagnostics (DSC),
Interdisciplinary (ISC), Therapies (TSC), and Regulatory (RSC). Membership of these committees is
comprised of subject matter experts drawn from academia, patient advocates, regulatory bodies, diagnostics,
and the pharmaceutical industry, and is not restricted to Consortium members. Membership on the SCs is
time-limited to enable key stakeholders the opportunity to serve and contribute their knowledge, with
staggered terms of service to reduce disruption to committee activities. The main role of the Scientific
Committees is to identify and execute actionable activities that advance the goals of IRDiRC, report on
progress made towards those goals, and advise the CA on research priorities, meeting regularly in order to
achieve those goals.

An Operating Committee, comprised of the Chair and Vice-Chairs of the Consortium Assembly,
Constituent Committees and the Scientific Committees, works in concert with the Scientific Secretariat to
efficiently coordinate and manage the activities of IRDiRC. The Scientific Secretariat is a dedicated office
within IRDiRC that manages the daily activities, providing administrative support, organizing meetings
(teleconferences, in-person events), facilitating interactions both within and outside of IRDiRC, and
disseminating information and communications. The Operating Committee plays a pivotal role in the
exchange of information between the Constituent and Scientific Committees, evaluating new proposals and
recommendations to present to the wider Consortium Assembly. The organizational structure of IRDiRC is
summarized in Figure 1.

Task forces and working groups
To accomplish these goals, IRDiRC coordinates the formation of Task Forces (TFs) and Working Groups
(WGs) to address key issues identified by the Constituent and Scientific Committees and prioritized
through discussion by the CA. The TFs and WGs are designed to be time-limited activities that tackle an
actionable topic in a small group setting, with members (who do not need to be IRDiRC members) selected
based not only on expertise in the area of interest, but also those with diverse backgrounds to ensure that
different perspectives are taken into account during discussions. The ultimate goal of these TFs and WGs is
to propose solutions through policy recommendations, technical standards, guidelines, or tools that advance
RD research, diagnosis, and therapeutic development. The activities of the TFs and WGs in the first decade
of IRDiRC (2011-2021) have previously been summarized by Monaco et al., while a full listing of all
completed and ongoing TFs/WGs is available on IRDiRC’s website .
[7,8]

IRDiRC continues to identify and address key issues in RD research with a number of recently completed
and ongoing TFs/WGs. The Targeting shared molecular etiologies to accelerate drug development for rare
diseases TF recently published a review highlighting the potential of using basket clinical trial design for rare
[9]
diseases to accelerate the development of new therapies and address the unmet needs of patients . Current
TF/WG efforts are focused on many different aspects of RDs, from funding of research and development
through access to treatment and the impact on patients. Efforts focused on enabling the development of
new therapeutics include the Drug Repurposing Guidebook and Preparing for Genetic N-of-1 Treatments of
Patients with Ultra-rare Mutations TFs. The Functional Analysis TF seeks to develop a framework for a
robust and effective ecosystem to support research into RDs, while Funding Models to Support the Spectrum