In the Rare Brain Disorders Lab, we study the genetic and molecular basis of neurological and neuromuscular diseases of infancy and childhood. Our research focuses on the molecules that make the nervous system and muscles excitable and on molecules that supply energy to their cells.
As a universal principle, a disease starts with an alteration in the normal function of a cell, and abnormal functioning is always the consequence of a molecular abnormality. We devote equal efforts to understanding how molecules are designed to function under normal conditions, how genetic mutations alter their properties, and how these abnormal properties cause the diseases that we diagnose in the clinic.
We have identified molecular areas in ion channels of neurons (Kv2.1) and muscle (the acetylcholine receptor) that are essential for the generation and propagation of electrical signals across these cells, and measured the electric fields in these small molecular regions using biophysical techniques. Related work focuses on mutant glucose transporters (Glut1) from patients with impaired glucose entry into the brain from the bloodstream.
We have also discovered a new gene that is utilized by both primitive bacteria and human muscles alike for the movement of potassium inside and outside of them. More recently, our laboratory has been investigating new molecular therapies based on the control of gene expression and function. This also focuses on experimental models of disease and therapy, as well as on clinical studies that include patient pharmacological trials, and on improving our knowledge of several neurological and neuromuscular diseases across the human lifespan.