Unveiling cell-type specific contributions to SBMA pathogenesis
Summary Description
Kennedy’s Disease, or Spinal and Bulbar Muscular Atrophy (SBMA), is a rare inherited disorder that causes progressive muscle weakness, difficulty speaking and swallowing, and hormone-related symptoms. Some patients also experience mild sensory problems, likely due to damage in the nerve cells that process sensory information. SBMA is caused by a mutation in the androgen receptor (AR) gene, but how this mutation leads to nerve and muscle degeneration, and why symptoms vary so widely, remains unclear. No effective treatments currently exist. Our research aims to understand how different spinal cord cell types contribute to SBMA. Using advanced genomic tools and a well-established mouse model, we have identified disease-related changes in gene activity not only in motor neurons but also in other spinal cord cells involved in sensory processing. In this proposal, we will use a new, cell-type-specific mouse model to investigate how these non-motor neurons may drive disease symptoms. This work will illuminate the mechanisms of SBMA and may help guide the development of future therapies.
Bio
Dr. Janghoo Lim received his undergraduate and master’s degrees in Korea and earned his Ph.D., followed by postdoctoral training at Baylor College of Medicine in Houston, Texas. He joined Yale University in 2010 and is now a Professor in the Departments of Genetics and of Neuroscience. At Yale, Dr. Lim investigates the pathogenic mechanisms of neurodegenerative diseases, aiming to translate fundamental discoveries into therapeutic strategies. His research also focuses on the molecular and cellular mechanisms governing brain development, function, and associated neurological disorders. Dr. Lim’s honors include the NIH Pathway to Independence Award (2009), Yale Scholar Award (2010), NARSAD Young Investigator Award (2010), Young Investigator Awards for SCA research from the National Ataxia Foundation (2012, 2014), Alfred P. Sloan Research Fellowship (2012), Child Health Research Award from the Charles H. Hood Foundation (2012), and the Blavatnik Accelerator Award from the Blavatnik Family Foundation (2025).
