Award Details:
Award Type: Catalyst
Award #: C-094
Proposal Title: Uncovering the Genetic Basis for a Cryptic Pan-Sensory Disorder
PI(s): Peggy Mason (UChicago), Clifton Ragsdale (UChicago), Jason McAnany (UIC) and Megan Roy-Puckelwartz (NU)
Award Amount: $249,998.00
Application Cycle: Round 27 (Spring 2019)
Award Start Date: September 1, 2019
Award End Date: August 31, 2021
Abstract:
We have identified two individuals with a severely disabling genetic syndrome that impairs the ability to sense touch, pain, the position of the body, taste, smell, and light-sensing (involved in limbic function rather than vision). The loss of the sense of the body prevents normal movement; one affected individual requires a wheelchair and a second walks with a highly abnormal, unsteady gait. This sensory syndrome can also occur in a cryptic form that is so mild as to be unapparent to the affected individual. The cryptic and severe forms are present in different individuals in two different families, comprised of individuals who are all eager to participate in this research. The unprecedented opportunity presented by these two generous families will allow us to discover a pan-sensory development pathway, thereby rewriting our understanding of how sensory systems wire up into their healthy and mature form in all of us.