PI: Daniel Marenda, PhD
Institution: Drexel University
In the study of human disease, animal models often act as surrogates for people when (as is often the case) testing on humans is unethical or not feasible. The common thread of evolution among species allows for discoveries that are made in nonhuman species to be applied across the diversity of life forms, from single-celled bacteria and yeast to large, complex, many-celled human beings. These nonhuman surrogates are collectively known as “model organisms”. They bring with them an enormous battery of sophisticated experimental tools that allow for the study of human diseases and offer clues about the underlying factors that contribute to these diseases.
In collaboration with Dr. Wenhui Hu’s laboratory at Temple University, Dr. Daniel Marenda at Drexel University is using two of these model organisms (the fruit fly and the common mouse) to further understand the function of the TCF4 gene. TCF4 is well known to function during development, to help form proper muscle cells, nerve cells, and other tissues in the body. After these cells develop, they form mature cells (that is, cells that do a job). Dr. Marenda and Dr. Hu have discovered that while TCF4 does function to help cells develop, TCF4 also functions in mature cells as well (particularly mature nerve cells). This is exciting, as there previously has been no described function of TCF4 in mature nerve cells. Further, this opens the possibility of therapeutic intervention for Pitt-Hopkins outside of embryonic development. The hope is that once we better understand what TCF4 is doing in mature nerves, we will be better able to intervene with drugs to fix TCF4 function in those mature cells when TCF4 function is lost due to mutation.