Genetic evaluation of patients with undiagnosed diseases

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Genetic evaluation of patients with undiagnosed diseases

Brief description of study

The purpose of this study is to use extensive analysis of the DNA, RNA, and/or patient-derived cells, to identify the cause of undiagnosed pediatric medical conditions. The purpose is to provide diagnoses for children with undiagnosed diseases, find out how often we can make a diagnosis in this way, see if we can arrive at that answer more rapidly, and what effect finding a diagnosis has on a patient's medical care and well-being.

Clinical Study Identifier: s18-01743

Principal Investigator: Gilad D. Evrony.

Other Investigators: John G Pappas, Aravinda Chakravarti.

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