NCI Cancer Human Biobank to Lead Biospecimen Accrual for NIH GTEx Project

The National Institutes of Health today announced awards to support the Genotype-Tissue Expression (GTEx) project, an initiative to determine how genetic variation controls gene expression and its relation to disease.

The National Cancer Institute’s (NCI) cancer Human Biobank (caHUB) will lead the GTEx biospecimen acquisition sub-initiative comprised of three biospecimen source sites and a laboratory data analysis and coordinating center. Biospecimens are tissues and fluids taken from the human body and used for diagnosis, analysis and research. The biospecimen source sites will recruit donors and collect biospecimens for the project.

Studies involving human biospecimens are often hampered by a host of factors related to inconsistent tissue quality and incomplete annotation of samples with patient data. The NCI caHUB initiative was established to provide a national biobanking infrastructure governed by standardized methods for tissue collection, annotation, storage and distribution. caHUB will enable GTEx-funded researchers to generate high-quality data of use to the broad community of basic and clinical researchers in the public and private sectors.

caHUB biospecimen source sites supporting the GTEx project are:

National Disease Research Interchange, Philadelphia
Principal Investigator: John Lonsdale, Ph.D., and Jeffrey Thomas

Roswell Park Cancer Institute, Buffalo, N.Y.
Principal Investigator: Barbara Foster, Ph.D.

Science Care, Inc., Phoenix, Ariz.
Principal Investigator: Harold Magazine, Ph.D. and Mark Kartub, M.D.

Biospecimens will come from approximately 160 deceased donors identified through autopsy or organ tissue transplant programs. A small subset of normal biospecimens will come from live donors as a comparison group. Extensive clinical and medical information will be associated with each biospecimen collected for the GTEx project. caHUB will submit a portion of each biospecimen to the GTEx laboratory, data analysis and coordinating center for molecular analysis. The linking of patient and molecular information for each biospecimen, enabled by the participation of the caHUB, will allow the GTEx project to break important new ground in determining the genetic causes of many different diseases and disorders.