Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational
Official Title: Finding Genes for Rare Diseases
Brief Summary:
This study will help the investigator understand the pathogenesis of different rare genetic conditions and to establish database of rare genetic databases. This would ultimately help to provide more accurate diagnosis through advanced genomic diagnostic testing and databases established from this study. This knowledge would in turn help in the clinical management of other affected family members and other individuals affected with similar conditions. Understanding of pathogenesis of the disease would also enable the investigator to develop targeted therapies for rare genetic diseases, and also to collaborate on the targeted therapy-related clinical trials.
The investigator plans to store the results of this study in databases. These results will be shared with other researchers or doctors, who research, diagnose or treat the individuals with similar diseases.
The investigator will only share the data that is collected and not the biological samples.