Bushenge, Rwanda

Genetic Analysis of Uncommon Disease Presentations in Non-US Populations

Study Description: We plan to couple novel techniques of genomic interrogation with more traditional methods involved in genetic discovery to investigate a broad range of diseases and conditions in locations without access to medical genetics for which there exists strong evidence that genetic factors are contributory. Objectives: Primary Objective: To investigate the genetic contribution to conditions displaying unconventional clinical phenotypes/familial segregation among individuals belonging to historically underrepresented populations. Secondary Objective: To develop an international collaborative network across countries with limited or no access to medical genetics. Tertiary/Exploratory Objective: To identify the psychosocial impact and cultural considerations of the diagnostic odyssey in countries without medical genetics access to better inform genetic counseling practices for these populations. Endpoints: Primary Endpoint: Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes. Secondary Endpoint: Independence and autonomy when conducting genetic studies among sites with limited to no access to medical genetics. Tertiary/Exploratory Endpoint: Elucidation of psychosocial impact and cultural considerations for patients with limited access to medical genetics.