RESEARCHER SPOTLIGHT Meet Jerry Harb, staff scientist, from the Department of Metabolics at Children’s Hospital of Orange County, California (CHOC) What are your research interests? How does that work potentially help to find therapies for patients living with Salla disease? My work with Dr. Raymond Wang’s group at CHOC primarily focuses on genome engineering to correct pathogenic variants in pediatric lysosomal storage diseases, employing cutting-edge techniques like CRISPR- Cas9. The research is dedicated to developing new therapies for rare genetic conditions like Salla disease. In the world of genetic disorders, diseases are rooted in our genes, or the ‘code’ that directs how our bodies grow, develop, and function. Genes act like instruction manuals, telling our cells what proteins to make and when to make them. When there is an mutation, or ‘typo’ in this code, it can disrupt the proteins that are essential for normal body functions, leading to various health problems. I am particularly interested in the use of modern molecular techniques that aim to correct the underlying cause or ‘typos’ of disease. To do this, we utilize advanced genetic tools to try and fix the faulty gene. One of these tools, called base editing, acts like a molecular pencil that can carefully correct the mistakes in the genetic code without causing additional problems. My work in Salla disease has shown that this approach can help cells function more normally, reducing the harmful effects of the disease in both human and mouse cells. The ultimate goal of my research is to turn these findings into real therapies that can slow down or even stop the progression of Salla disease. While there’s still more work to do, I am hopeful that these methods will one day make a difference for patients and their families, offering them better outcomes and improved quality of life. How has working on Salla disease impacted your future goals? The next steps in my career involve continuing to advance the field of genetic therapies, focusing on translating laboratory discoveries into treatments that can make a real difference for patients. My work on Salla disease has been particularly inspiring because it highlights the potential of gene-editing technologies to address rare and currently untreatable conditions. This experience has shaped my future goals by reinforcing my commitment to pursuing innovative approaches that not only target the root causes of genetic disorders but also improve patient outcomes. I hope to expand my research to other similar diseases, collaborate with clinical teams to develop therapies, and ultimately contribute to making these technologies more accessible to patients and their families. Click on the link below or Jerry Harb holds an Master of QR code to read more about Science in Biomedical Sciences from Western University of base editing: Health Sciences. He lives in “Base editing corrects the Southern California with his common Salla disease SLC17A5 wife Jesica and their two cats, c.115C>T variant” Mowgli and Baloo. Page 6 of 8 www.sallaresearch.org