Genetic Disorder Discovery Through DNA Sequencing

Use of Whole Exome and Genome Sequencing to Identify New Genetic Disorders

Protocol Description

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.

Eligibility Criteria

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

Status: Enrolling by Invitation

Source(s) of Support

Division of Genetic and Genomic Medicine, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC

Additional Information

Genetic and Genomic Medicine Research

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker, MA