This past year Drs. William Trimble and Sergio Grinstein were the recipients of the third round of funding through the Jacobs Ladder Foundation Seed Grant at the Hospital for Sick Children. Their study entitled “Role of Late Endosome Membrane Recycling in Cholesterol Homeostasis” involves testing a new theory that they hope will provide insights into the causes of childhood neurodegenerative diseases such as Niemann-Pick disease type C (NPC). Most patients with NPC carry a defect in one gene, NPC1, yet what this protein does remains unclear. However, defects in NPC1 lead to an accumulation of cholesterol and other lipids within certain parts of cells. Drs. Trimble and Grinstein hypothesize that the NPC1 protein may be important to transport cholesterol within a specific cell compartment; at the point where cholesterol first enters the cell.
It will be necessary to understand how cholesterol is distributed within the cell in order devise new methods to treat patients when this goes awry.
NPC, like many other childhood neurodegenerative diseases, has remained challenging to study, and novel approaches are needed to find clues for its causes and to identify potential therapies. The Jacob’s Ladder Seed Grant has provided invaluable start-up funding by allowing the researchers to test out new theories, and obtain preliminary evidence needed to seek additional funding support from national funding agencies.
