G2MC Flagship Projects
Rare Undiagnosed Diseases
Implementing evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in low and middle-income countries.
Alan Shuldiner (USA)
Vajira Dissanayake (Sri Lanka)
The Rare Undiagnosed Diseases Flagship Project aims to implement evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in low and middle-income countries (LMICs). This project also envisions rapid translation and implementation of genetic diagnosis through the exchange of information between clinicians and researchers to reduce the diagnostic odyssey associated with a rare disease.
- Implement exome sequencing in children and adults with a rare and undiagnosed disease for diagnosis and genome-informed patient care.
- Establish a global network for LMICs in this area to train local clinicians and providers.
- Implement rare disease diagnosis using next generation sequencing and evaluate outcomes.
- Site Selections: As of December 2020, 16 collaborator sites across 4 continents have joined the G2MC Rare Undiagnosed Diseases Flagship Program. Sites were selected based on their capacity to serve and care for a diverse population of patients and hence serve as recruitment centers. These sites care for patients in communities that have not been extensively studied concerning their genetic architecture, including many founder and consanguineous populations. Clinical conditions observed at these collaborator sites are diverse across virtually all organ systems. Additional collaborator sites are expected to join throughout this 3-year project. G2MC and the University of Maryland will play coordination roles for the project.
- May 2020 Virtual Conference: During the May 2020 G2MC International Virtual Conference Breakout Sessions, the Rare Disease subgroup convened with interested conference participants to discuss potential collaborations and moving the project forward by selecting clinical settings in low and middle-income countries to begin implementing genome and exome sequencing in children and adults with rare, undiagnosed genetic disorders.
View the G2MC Publications webpage for a list of publications either written by G2MC members or relevant to the G2MC organization.