SAN FRANCISCO, 7/6/15 - The Bluefield Project to Cure Frontotemporal Dementia congratulates Constance Petit, Ph.D., recipient of the 2015 Bluefield Postdoctoral Fellowship for her proposal, “Unraveling the cellular function of progranulin.”

Dr. Petit received her undergraduate degree in cellular biology and genetics from the University of Versailles in France. She obtained a doctoral degree from Pierre and Marie Curie University in Paris.

In 2014, Dr. Petit joined the lab of CFR Investigator Dr. Bob Farese and Dr. Tobias Walther at Harvard University, where her research project focuses on elucidating the cellular function of progranulin and its relationship to lysosomes. Lysosomes are small, membrane-bound compartments within cells that contain specialized enzymes to break down proteins and lipids. In addition to their functions in waste removal, lysosomes are also important signaling hubs for coordinating membrane repair and cellular housekeeping. If lysosomal functions are compromised, undigested proteins or lipids may build up and negatively impact cell health.

Lysosomes are of particular interest to progranulin researchers because, in 2012, scientists in Australia identified a pair of siblings with mutations in both copies of their progranulin genes. As a result, these individuals completely lacked progranulin in their bodies. In their early twenties, both siblings exhibited symptoms of neuronal ceroid lipofuscinoisis, a disease that is characterized by abnormal storage of material in the lysosomes of neurons in the brain. This key finding indicated that progranulin’s primary function is in lysosomes, because, without progranulin, lysosome function is compromised. By extension, it also indicated that progranulin-deficient FTD, in which patients have approximately half the normal amount of progranulin, may be thought of as a milder form of the same lysosomal storage disorder.

Dr. Petit will investigate progranulin’s function in the lysosome by characterizing how lysosomes change when they have less progranulin. She will analyze lysosomal signaling, size, number, pH and composition. Dr. Petit will also explore what other proteins progranulin may interact with inside the lysosome, and how those interactions may influence progranulin’s function.

Dr. Pearlman, President of the Bluefield Project to Cure FTD, said, “Dr. Petit’s research addresses one of the most pressing question in progranulin biology today; what is progranulin's role in the lysosome and how does that influence disease? Answering this question is key to developing new drug targets, and we are excited to follow her work closely."

The Bluefield Postdoctoral Fellowship provides two years of salary support and is awarded annually to a postdoctoral fellow in a CFR member lab who is conducting basic, translational or clinical research on frontotemporal dementia.