Kelly du Plessis

Advances in omics and specifically genomic technologies are increasingly transforming
rare disease diagnosis. However, the benefits of these advances are disproportionately
experienced within and between populations, with Indigenous populations frequently
experiencing diagnostic and therapeutic inequities. The International Rare Disease
Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing
toward the vision of all people living with a rare disease… Show more

Advances in omics and specifically genomic technologies are increasingly transforming
rare disease diagnosis. However, the benefits of these advances are disproportionately
experienced within and between populations, with Indigenous populations frequently
experiencing diagnostic and therapeutic inequities. The International Rare Disease
Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing
toward the vision of all people living with a rare disease receiving an accurate diagnosis,
care, and available therapy within 1 year of coming to medical attention. In order to
further progress toward this vision, IRDiRC has created a taskforce to explore the access
barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of
developing recommendations to overcome them. Herein, we provide an overview of the
state of play of current barriers and considerations identified by the taskforce, to further
stimulate awareness of these issues and the passage toward solutions. We focus on
analyzing barriers to accessing genetic services, participating in genomic research, and
other aspects such as concerns about data sharing, the handling of biospecimens, and
the importance of capacity building. Show less

The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed
in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative eforts… Show more

The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with rare diseases. The following ICORD Global Call to Action, developed
in collaboration with the International Rare Diseases Research Consortium, synthesizes the outcomes of the deliberations and emphasizes the international collaborative eforts required to address the global efects of rare
diseases on public health. Show less