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This study is being conducted to help researchers better understand the molecular genetic basis for unknown inherited conditions. While many genetic disorders are known, in some individuals with certain conditions where a precise diagnosis is undetermined, clinicians may suspect a genetic disorder is the cause. This study will enable researchers to set test parameters to best sequence all the important DNA from individuals with similar conditions.
This study is recruiting patients who have been identified by a genetic doctor as potentially having a genetic disease.
Males and Females: All ages
For DNA sequencing, blood samples will be taken from participants and healthy sibilings and parents. Urine and/or saliva samples may also be taken for future functional studies. Researchers will review participants’ health and family medical history, as well as results from other physical exams, lab reports, and tests provided by medical facilities and physicians. In a follow up visit, participants will be informed of what was learned through DNA analysis.
Visits: None beyond normal clinical care
Duration: Not applicable
Medical Genetics Division, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Jennifer Baker, MA
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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