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Phenogenetic Project at CUMC

Goals: 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.

Scope: 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.


Access: Stored or fresh samples, as well as data are available on request by investigators in our community. Subjects may also be approached for participation in other studies that include activities not covered by the protocol of the PhenoGenetic Project.


Give a gift to science

Recent advances in technology have allowed us to make great strides in understanding the genetic architecture of neurodegenerative diseases such as Multiple Sclerosis and Alzheimer’s disease. However, timely diagnosis and treatment for these diseases continue to be a challenge. Our lab conducts innovative research that applies statistical genetics and computational biology in the development of clinical tools that will enhance drug discovery efforts, disease diagnostics and allow doctors to create personalized treatment plans that will greatly improve patient prognosis. 


As we work towards explaining the many still unanswered questions, you can help us through a gift to our lab. Your gift will go towards supporting our research efforts and be reinvested into our current and future projects, as well as allow us to conduct pilot studies into new frontiers of the field of neurological disease research. Your donation will play an important role in providing us with the tools to push forward our understanding of the brain, genetics, environmental factors, etc and how these interrelated factors influence the onset, course and progression and various neurological diseases. To give a gift online, please click on the icon below

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