PhenoGenetic Project (Completed)


Advances in human genetics have enabled an explosion in the identification of common genetic variation that play a role in human diseases. The next challenge is to understand the impact of this genetic variation on the function of the human body. We have established the PhenoGenetic Project in response to this challenge. We have created a dual resource that provides, not only a source of fresh and stored biological samples from human subjects, but also an electronic atlas that references the expression of genes to the variation found within those genes. These two resources enable “wet lab” experiments to characterize the function of human genetic variation as well as “in silico” experiments to explore the repercussions of newly discovered genetic variation in an evolving database of gene function data.


Healthy volunteers ages 18 to 50 are being recruited for this five-year of study of the relationship between genetic variation and gene function at Brigham and Women’s Hospital. In total, 1000 subjects of different ethnicities will be recruited. Each subject has consented to donate up to 120 ml of blood up to four times a year during the course of the study. DNA is stored for each subject and allows for the selection of individuals for assays based on their genotype at a polymorphism of interest. Subjects may also be selected on the basis of their demographic profile or certain biological parameters such as body mass index.


Stored or fresh samples are available on request by investigators in our community. Subjects may be approached for participation in other studies that include activities not covered by the protocol of the PhenoGenetic Project. Data are available on request to investigators within our community.


The PhenoGenetic Project was launched in October 2007. Over 300 subjects were recruited by March 2008, and frozen, as well as fresh, samples are available from each subject. Data for the public databases are being generated and will become available by the Fall of 2008. The PhenoGenetic project completed its target sample acquisition of a 1000 samples in the Fall of 2009.


For more information on obtaining samples, please contact Ms. Becky Briskin by email (preferred) or phone 617-525-4460.