Richard Steet, an associate professor of biochemistry and molecular biology in the Franklin College of Arts and Sciences, received $18,000 from the Yash Gandhi Foundation to evaluate mutations in a specific gene that give rise to I-cell disease and Pseudo-Hurler polydystrophy. These closely related disorders are both lysosomal storage diseases, and they cause abnormal skeletal development, restricted joint movement, claw-shaped hands and cardiac defects. Steet’s lab is looking for a way to restore the folding mutant enzymes using pharmacological agents, with the ultimate goal of finding a cure for I-cell and other similar diseases. Steet also received another $30,000 grant from the MPS Society to improve existing enzyme replacement therapies for Hurler syndrome.
