DIAGNOSTIC METHODS FOR NEURAL DISORDERS

摘要

The invention generally relates to optical methods for the diagnosis of neuronal condition by converting a cell from a patient into a neuron and optically evaluating action potentials of that cell in vitro. The cell is transformed with an optical reporter and exhibits an optical signature in response to neural stimulation. Using genome-editing, a control cell can be made that is isogenic but-for a known mutation and a control signature obtained from the control cell. Thus, methods of the invention reveal potential neurodegenerative effects of a mutation as manifested in a patient's genetic context. The optical signature of the cell, or the difference between the signature and the control signature, is correlated to a diagnosis of the neurodegenerative disease

主权项

1. A method of diagnosing a condition, the method comprising:
obtaining an accessible cell from a person suspected of having the condition; causing the cell to express an optical reporter of electrical activity; observing a signature generated by the optical reporter in response to a stimulation of the cell; and comparing the observed signature to an expected signature, wherein a difference between the observed signature and the expected signature corresponds to a positive diagnosis of the condition.