This grant is awarded to Payam Mohassel, MD, PhD, Johns Hopkins, to study cellular and animal models of SPTLC1-related juvenile ALS. Recent work in his lab led to the discovery of a new genetic form of ALS that stems from excessive activity of an enzyme called serine palmitoyltransferase. This study seeks to create cellular and animal models of this new form of ALS to enable future studies to help better understand and to test candidate therapies.
“Our investment in emerging scientists brings unique and impactful discovery to ALS research,” shared Live Like Lou Foundation Executive Director Wendy Faust. “We are honored to partner with Packard to advance early-stage researchers in their work,” Faust finished.
This grant will generate new human neuronal cell models and humanized mouse models in which to study pathogenic mutations in SPTLC1, an essential component of the sphingolipid metabolism pathway. Sphingolipids are specialized lipids that participate in cellular signaling that have been implicated in neuronal homeostasis.
“We are excited to collaborate with the Live Like Lou Foundation to jointly fund this important research,” noted Packard Center Scientific Director Dr. Christine Vande Velde. “We are hopeful that exploring this understudied mechanism will inform on motor neuron homeostasis and that these models will be valuable to future development of targeted therapeutics,” Vande Velde also stated.
Mohassel, an associate professor of neurology at the Johns Hopkins University School of Medicine, specializes in myopathies, muscular dystrophies, and other hereditary neuromuscular disorders and is the co-director of the Johns Hopkins Myositis Center.
“Funding from the Packard Center and the Live Like Lou Foundation will enable us to create new iPSC and mouse models of a novel genetic form of ALS due to excess sphingolipid synthesis,” noted Mohassel. “We plan to make these models available to all investigators who are interested in studying them to understand the underlying mechanisms of this disease and develop therapies. We are grateful for this opportunity and look forward to sharing our progress in the near future.”
The Robert Packard Center for ALS Research at Johns Hopkins is an international collaborative research group of committed scientists who tackle key questions related to the cause and treatment of ALS. To support their studies, the Center provides expertise, advanced technology, and a highly collaborative spirit. The core of the Center’s mission is to find real therapies and ultimately a cure for ALS. The hope is in the science.
The Live Like Lou Foundation was established in 2017 as a national nonprofit with a vision to leave ALS better than we found it. Named in honor of MLB Hall of Famer Lou Gehrig, Live Like Lou supports ALS families, funds emerging researchers seeking meaningful treatments and cures for ALS, and helps generate awareness of Lou Gehrig’s disease. In the face of his ALS diagnosis, Lou Gehrig continued to live his life with courage, determination, and gratitude... this is what it means to live like Lou.