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Rockford researchers working on treatments for leading genetic cause of infant death

The University of Illinois College of Medicine Rockford Department of Biomedical Sciences is part of groundbreaking research that provides hope that a treatment for a debilitating and often fatal disease isn’t far away.

Researchers in the Regenerative Medicine and Disability Laboratory are part of a team moving closer to finding potential therapies that could treat the leading genetic cause of infant death, which is spinal muscular atrophy (SMA). The research was recently published in the online journal Life Science Alliance.

Yongchao Mou, Ph.D., is a post-doctoral researcher in the Regenerative Medicine and Disability Research Laboratory.

Spinal muscular atrophy is a disease affecting the motor nerve cells in the spinal cord. People with the genetic defect that causes this disease can lose their ability to walk, eat and even breathe. More than half the babies born with it die before age 2.

The Rockford researchers and their colleagues used stem cell models to find pathways for promising agents to reverse damage or at least protect nerve cells from further damage. This process, for which a patent application has been filed, lays the foundation for future drug discovery.

The UICOMR researchers focus on fighting human motor neuron diseases such as this. This team includes Xue-Jun Li, Ph.D., who is the Michael A. Werckle, MD, Professor in the Department of Biomedical Sciences; post-doctoral researchers Chong-Chong Xu, MD, Ph.D., and Yongchao Mou, Ph.D.; and college student Jessica Trinh. These researchers collaborated with Dr. Xiaoqing Zhang and his group at the Brain and Spinal Cord Innovation Research Center at Tongji University School of Medicine in Shanghai, China.

Xue-Jun Li, Ph.D.

“SMA is a devastating disease that, up until a few years ago, had no treatments,” says Dr. Li. “There’s only one drug that came out just a few years ago that is helping some people and this new research provides more hope for other drug therapies in the future.”

Now that the researchers better understand the mechanisms of the disease and a potential way to treat it, the next step is to continue this work to develop therapeutic agents that can inhibit the degradation of certain proteins involved in the disease, thereby preventing its devastating effects on movement.

The Regenerative Medicine and Disability Laboratory is part of the Department of Biomedical Sciences at the University of Illinois College of Medicine Rockford. Established through generous support of the Blazer Foundation, this lab is headed by Dr. Li and Dr. Mathew Thoppil-Mathew who focus on fighting human motor neuron diseases and improving the integration of metal implants into the surrounding bone tissue, respectively. By combining stem cell biology, bioengineering, biomaterials, system biology, pharmacology and medicine, research in the RMDR Lab aims to identify therapeutic agents, novel biomaterials and innovative approaches to improve clinical practice to provide better health care to patients with disabilities.