Frick Foundation for ALS Research
Frick Foundation for ALS Research

Professor Claudio Hetz

Claudio HetzClaudio Hetz was trained as a Biotechnology Engineer at the University of Chile and performed his Ph.D. in Biomedical Sciences in the same University in collaboration with Serono Pharmaceutical Research Institute, Switzerland. Then he did his postdoctoral training at Harvard University. He joined the University of Chile during 2007 and is currently Full Professor at Faculty of Medicine and adjunct Professor at Harvard. He is also currently the Co-Director of the Biomedical Neuroscience Institute. His research focuses on understanding the molecular basis of protein folding stress, its relationship to pathological conditions affecting the nervous system including ALS, the generation of new animal models, and the development of prototypic strategies to prevent neuronal damage. His group focuses on investigating stress responses at the level of the endoplasmic reticulum (ER), a specialized subcellular compartment essential for the folding of proteins destined for the secretory pathway. Claudio Hetz has significantly contributed to define the function of an adaptive process against ER stress (termed UPR) to ALS and other neurodegenerative diseases. He has received important awards including the TWAS-ROLAC Young Scientist Prize as outstanding young scientist in Latin America, was finalist in the Eppendorf and Science Award in Neurobiology and he was awarded with the Cell Biology Society and Bios-Chile prize as the best young scientist of Chile.

Professor Justin Ichida

Clotilde Lagier-TourenneJustin Ichida is an Assistant Professor in the Department of Stem Cell Biology and Regenerative Medicine at the University of Southern California. He received his Ph.D. in Genetics from Harvard Medical School in 2007, having studied the origin of life and molecular evolution with Dr. Jack Szostak. Dr. Ichida completed his postdoctoral work with Dr. Kevin Eggan at Harvard University where he was awarded an NIH K99 Pathway to Independence award and a New York Stem Cell Foundation Druckenmiller Fellowship for his work on cellular reprogramming. After joining the faculty at USC in 2013, Dr. Ichida received awards from the Baxter Foundation and Rainwater Charitable Foundation.

Dr. Ichida's laboratory develops and uses cellular reprogramming technology to study neurodegenerative diseases. They recently developed a method for converting easily obtainable patient somatic cells directly into subtype specific neurons using transcription factors. Spinal motor neurons generated in this manner from ALS patients recapitulate key hallmarks of the disease, including early degeneration, protein inclusions, and electrophysiogical changes. Dr. Ichida's lab has used this approach to investigate the mechanisms that cause neurodegeneration in C9ORF72 ALS/FTD. They have found that dipeptide repeat proteins are highly toxic to motor neurons, are translated from the C9ORF72 repeat expansion, and accumulate in patient-derived motor neurons but not controls. This suggests that this toxic gain of function of the repeat expansion contributes to neurodegeneration. However, additional evidence indicates that the loss of C9ORF72 protein function also renders patient-derived neurons susceptible to degeneration in vitro. Dr. Ichida's lab is now investigating how these gain and loss of function mechanisms intersect to lead to ALS/FTD.