Research Associate Professor
University of Illinois, Chicago
What first drew you to Krabbe disease—and why have you stayed?
I have always been deeply curious and passionate about cell biology and medical science. I am particularly inspired by the remarkable scientific and technological advances that have made it possible to treat and cure a wide range of human diseases and conditions. After careful consideration, I chose to pursue a degree in Biology and went on to complete my PhD, focusing on the characterization of a variant of the lysosomal storage disorder Mucopolysaccharidosis Type VII in an Argentine patient, with whom I remain in contact to this day. This experience profoundly shaped both my scientific interests and my commitment to translational research. I subsequently undertook postdoctoral training in oligodendrocyte biology and demyelinating disorders at the University of California, Los Angeles. In 2002, I began working in both basic and therapeutic research on Krabbe disease and Metachromatic leukodystrophyThe leukodystrophies comprise a group of progressive, genetic disorders mainly affecting the central nervous system (CNS). Most leukodystophies result from a disruption of the growth of the myelin sh.
What keeps you going on the hard days when progress feels slow?
Since then, I have witnessed significant progress in newborn screening, our understanding of disease pathophysiology, and the development of emerging treatments—particularly for Krabbe disease. Interacting with affected children and their families has been a powerful source of motivation, strengthening my determination to identify new therapeutic strategies and improve upon existing ones.
If you could say one thing directly to families impacted by Krabbe, what would it be?
I am confident that continued advances in this field will lead to a future where patients with Krabbe disease—and their families—no longer have to endure its burden.
