G2MC Rare Genetic Disorders Flagship Project: Moving Forward with Project Scale-Up

Leaders of G2MC’s Rare Genetic Disorders Flagship Project met in February to discuss a potential scale-up of the pilot project “Genomic Medicine Clinics for Rare Genetic Disorders,” a collaborative effort with the University of Maryland, which kicked off in 2021 with funding from the RTW Foundation. In 2023 the pilot project completed its goal of implementing exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in six clinical sites located in Chile, Mexico, Sri Lanka, Malaysia, South Africa, and Nepal. Read how this project has impacted one patient in South Africa.

The project now has the potential to expand to 20 clinical sites in LMICs that have expressed interest in providing exome sequencing to local individuals with rare/undiagnosed diseases and building these capacities in their countries. The plan is to establish regional hubs that would manage and support multiple sites within each region, allowing for coordinated efforts but also empowering each region and local site to tailor the process for their environment. Regional hubs would also recruit additional sites within those regions, with the ultimate goal of ongoing expansion. 

The experiences and expertise of members from the pilot project and lessons learned would be carried forward into the scale-up project. Incorporating local students and Early Career Investigators (ECIs) into the training process will also be a priority. 

The project is still in need of funding. If your organization is interested in funding this project, or if you are aware of a potential funding source, please contact us.