Human Genetics, Molecular and Cellular Biology and Histological Postdoctoral Scholar
The Neuromuscular and Neurogenetics Clinical Research Laboratory directed by Dr. John Day, part of the Innovative Genetic Neurological Investigation and Treatment Evaluation (IGNITE) program within the Department of Neurology and Neurological Sciences at Stanford University’s School of Medicine, is seeking a postdoctoral scholar experienced in genetic, molecular and cell biology and histological research to investigate human disease specimens before and after genetic correction.

The goal of the research is to develop novel insights and biomarkers of CNS and muscle involvement in Mendelian neuromuscular disorders such as muscular dystrophies and metabolic disorders that directly affect both brain and muscle function.  These outcome measures will inform ongoing and upcoming clinical trials in which these disorders will be genetically corrected, allowing identification and quantification of disease elements responsive to genetic correction, shedding light on the underlying pathophysiological processes.  Methods currently employed include broad scale proteomic and RNASeq evaluation of blood and cerebrospinal fluid specimens from patients before and after treatment, histologic characterization of muscle biopsies including CODEX evaluation of  inflammatory, metabolic, degenerative and regenerative features, and single nucleus RNA Seq of muscle biopsy and autopsy specimens from patients with genetically defined and clinically characterized diseases such as spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy, facioscapulohumeral dystrophy, GNE myopathy and familial forms of ALS. Genetic treatments for these disorders are clinically available, or in late-stage development, allowing patients to be tested before and after genetic correction.