Co-Leads

Alan Shuldiner (USA)
Vajira Dissanayake (Sri Lanka)

Mission

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. 

Goals

• 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.

• The Rare Undiagnosed Diseases Flagship Project is continuing to work towards implementing evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in low and middle-income countries (LMICs). The group is actively seeking monetary and in-kind support to help carry out the project. To date, the research plan is nearly complete and includes descriptions of over 20 sites in LMICs that have volunteered to participate in the project. A budget is being prepared and the project team has had meetings with individual sites to estimate what is needed to implement the project.
  
  
• The project team is also assessing additional opportunities to advance the rare disease program that require minimum funding. Potential opportunities include workshops on exome sequencing and monthly clinical case meetings. The flagship project team plans to seek assistance from the Education Working Group to implement such initiatives.