Funding outcome

Autism Spectrum Disorder (ASD) affects how children communicate, learn, and interact with others. In addition to these challenges, nearly 90% of ASD children experience sensory problems, such as being overly sensitive to touch or having unusual responses to pain. These make everyday activities like getting dressed, eating, or attending school difficult. We still do not understand what causes these sensory problems, so there are no effective treatments available. Most autism research focuses on the brain. However, signals such as touch or pain first travel through the spinal cord, which acts as a “filter” for the brain. If this filtering system is not working properly, everyday sensations may feel too strong or uncomfortable. In this project, we will use patient-derived stem cells, called induced pluripotent stem cells (iPSCs), generated from simple skin samples. These cells carry the same genetic information, including inherited mutations, as ASD affected children they come from. Using specialized methods developed in my lab, we will convert these stem cells into types of spinal cord nerve cells, responsible for sensing touch and pain. We will then determine how these sensory nerve cells are affected in ASD patients, e.g., whether they are more active or respond too strongly to stimulation. Because we can generate these neurons in large numbers, this strategy provides a platform for an essentially infinite supply of genetically identical patient cells to identify biological pathways disrupted in ASD. This platform will serve to identify pathways that can be targeted by future treatments, aimed at improving daily life for children with ASD and their families.