Clinical Research Studies

The purpose of this study is to use extensive sequencing of the DNA (genetic material inherited from parents) or RNA (transcripts of the DNA), and functional characterization of patient-derived cells if necessary, to identify the cause of an individual's undiagnosed medical condition. Today, advances in technology allow us to sequence all the portions of the DNA containing instructions for the proteins in the body (whole exome sequencing, abbreviated WES), all of a person's DNA (called whole genome sequencing, abbreviated WGS), or RNA (called RNA-sequencing, abbreviated RNA-seq). WES, WGS, and RNA-seq have been used recently to make diagnoses for individuals suffering from diseases that doctors cannot figure out but seem to be due to errors in the DNA. Generally, the doctors first order many conventional medical tests, including some more limited DNA sequencing tests, before resorting to WES or WGS. For this study, we intend to use WES, WGS and/or RNA-seq as one of the first tests for individuals suffering from problems that suggest that they might be caused by errors in the DNA. The purpose is to provide diagnoses to patients with undiagnosed disease, 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.