Stanley F. Nelson, M.D.

Nelson develops and implements advanced genomic tools to provide a more comprehensive view of rare DNA variants and their effects on mRNA, which can cause Mendelian genetic diseases — diseases caused by a single inherited genetic mutation — such as Duchenne muscular dystrophy. These tools have already allowed him to discover new genes and rare genetic diseases and to improve the clinical diagnostic workflow through the integration of multi-omic data from patient samples.

Using single-nuclei and single-cell approaches, Nelson dissects the heterogeneous cellular and molecular responses of dystrophic muscle to gene therapy and gene repair. The aim of this work is to identify novel biomarkers of disease and potential therapeutic targets using patient-derived blood and muscle samples, as well as cell culture experimentation.

Nelson’s clinical practice focuses on identifying Mendelian genetic diseases when standard clinical testing fails, as well as assessing and caring for individuals with Becker and Duchenne muscular dystrophy. He also leads clinical trials and has active IRB-approved protocols for the assessment of muscle niche and stem cell function in healthy individuals and those with muscle disease. 

His work has led to the launch of clinical exome sequencing on the UCLA campus as well as the largest muscle single-nucleus RNA sequencing dataset, which has facilitated the identification of novel cells within mouse and human dystrophic muscle. By integrating these cutting-edge technologies into his clinical practice, Nelson has improved how these rare diseases are identified and diagnosed.