Research Projects Open for Enrollment

Biobank

Nicklaus Children’s Hospital Biobank and Tissue Repository

Through the collection of biospecimens and data, the biobank is a research resource capable of supporting a broad range of scientific studies now and in the future.  Eligible donors of biospecimens include children and adults at participating clinical sites and community events. The goal is to increase the diversity of populations under-represented in biomedical research.

Diagnostic Odyssey

Ending the Diagnostic Odyssey: Whole Genome Sequencing (WGS) to Identify Genetic Determinants of Previously Undiagnosed Disease in Children

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.

View full details of study at ClinicalTrials.gov: https://clinicaltrials.gov/ct2/show/NCT03458962 

rWGS

Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

Rapid Whole Genome Sequencing (rWGS) has proven to provide much faster diagnoses than traditional clinical testing, including clinical Whole Exome Sequencing (WES) and standard Whole Genome Sequencing (WGS). This collaborative study seeks to provide rWGS as a research test to additional pediatric hospitals nationwide to assist in the rapid diagnosis of acutely ill children suspected of a genetic condition. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, and health economics including potential cost-effectiveness of rWGS. This study will also serve as a biorepository for future research on samples and data generated from genomic sequencing.

Full details of study at ClinicalTrials.gov: https://clinicaltrials.gov/ct2/show/NCT03385876