Rodrigo A. Aguilar, Ph.D.

Title
Postdoctoral Fellow
Department
Department of Molecular Biology
Institution
Massachusetts General Hospital, Harvard University
Address
185 Cambridge Street
Simches Research Center 6.624
City, State, Zip
Boston, MA 02114
Phone
617-726-3043
E-mail
aguilar[at]molbio.mgh.harvard.edu
Website
http://molbio.mgh.harvard.edu/leeweb/index.htm
Research Field
Molecular Biology
Award Year
2016
Country Of Origin
Chile
Mentor Name
Jeannie Lee, M.D., Ph.D.

Research

The Lee lab studies a cellular process called X-chromosome inactivation. In mammals, including humans, males receive one copy of the X chromosome, whereas females possess two. To avoid producing a “double dose” of the proteins and RNAs encoded by genes on the X chromosome, all female cells randomly select one of the X chromosomes per cell and permanently silence all of its genes. In some instances, reactivation of these silenced genes could be therapeutically beneficial, for example, in the case of X-linked genetic diseases. Combining techniques in cell and molecular biology with a unique drug-discovery system, I will screen for drugs that can regulate the activation of genes on the X chromosome by binding to newly discovered regulatory molecules that initiate X inactivation. These findings could open up a new approach to switching on specific X-linked genes, work that has direct therapeutic relevance for diseases, such as Fragile X syndrome, that are caused by mutations in genes on the X chromosome.