Stem cell biology, developmental biology and neurodegenerative diseases
Despite the rarity of motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), these incurable disorders in the severest forms have a rapid rate of disease progression, leading to the loss of voluntary muscle movement, muscle wasting and respiratory failure in as little as 2-5 years after diagnosis. We are using a combination of ALS and SMA human patient iPSC-derived motor neuron and astrocyte culture systems, and mouse models to further elucidate disease mechanisms and develop therapeutic strategies, such as gene therapy and small compound intervention. We are interested in the role of astrocytes in SMA pathology, specifically how secreted proteins and microRNAs impact motor neuron health and survival during disease progression. We are also investigating ALS motor neuron pathogenesis involving the aberrant aggregation of proteins, especially since 90% of cases are caused by unknown genetic and/or environment factors.