Motor Neuron Diseases (MND) are a group of progressive neurological disorders that degenerate motor neurons of the brain over time resulting in deteriorated muscle function. There are about 140,000 new cases of MNDs diagnosed worldwide each year. Several known MNDs including Amyotrophic Lateral Sclerosis (ALS) & Spinal Muscular Atrophy (SMA) have an underlying genetic basis. However, a small subset of individuals who exhibit MND-like neurological symptoms will have an undiagnosable condition where their current symptoms are not recognizable by physicians. Many of these patients that are unable to be diagnosed will go through a diagnostic odyssey with very little hope of pinpointing the main source of their neurological defects and symptoms. To help fill this gap, a Neurogenetics Clinic was established at The UPMC Children’s Hospital of Pittsburgh (CHP), where comprehensive and coordinated clinical evaluation is supported by state-of-the-art-genomic technology.
Using this approach, we found numerous individuals with novel genetic variants in the same gene that present with unique neurological symptoms. My graduate research is focused on studying the underlying genetic mechanisms of this new disease entity. In addition, I also study the underlying mechanisms of the MND disease, Amyotrophic Lateral Sclerosis. In the Pandey lab, we utilize Human Patient Induced Pluripotent Stem Cells (iPSCs) & the Drosophila Melanogaster as our two main model systems to study these neurological disorders.
Education & Training
- Bachelor of Science-Biochemistry-Dakota Wesleyan University; Mitchell, SD
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C.G. Otte, *T.R. Fortuna, J.R. Mann, et al., Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo, Neurobiology of Disease (2020), https://doi.org/10.1016/j.nbd.2020.105078