Major and Classification
Health and Humanity
Justin Ichida, Ph.D.
Keck: Stem Cell Biology and Regenerative Medicine
“Using Patient Specific Disease Models to Investigate the Pathological Mechanisms of ALS”
Since its initial diagnosis, many have brought forth ideas and treatments to combat the symptoms of Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig’s disease, a condition in which the motor neurons that control movement and muscle function prematurely die. Sufferers of this condition are struck with ailments such as muscle atrophy, muscle spasticity, and in extreme cases, paralysis, which severely disable them and decrease their quality of life. Furthermore, scientific study on ALS has been extremely limited due to the difficulty in being able to examine an organ such as vital and delicate as the brain. However, recent advancements in cellular technology have revolutionized the way scientists examine neurodegenerative diseases and have allowed them to study these motor neurons in a more accurate and efficient method than ever before. Cellular reprogramming has permitted scientists to convert one cell of a specific cell type into another by implementing the four transcription factors (Sox2, c-Myc, Klf4, and Oct4) which allow the genetic information of a person to be retained in the converted cell. In this study, we converted 20 to 30 skin fibroblasts per 60 patients (12 patients serving as the control and 48 patients serving as the carriers of ALS) into motor neurons and tracked each individual neuron until its death. Each cell death was plotted onto a graph and cell death averages were calculated in each patient in an attempt to deduce the aggressive from the modest genetic mutations in the cells, their behavior in relation to motor neurons in vivo, and the conventions of the two different forms of the disease. As a result of this information, we hope to gain a better understanding of the mechanisms behind ALS so that we can create better treatments or even a cure in the near future.