NEURODEGENERATIVE DISEASES

A major focus of our research is on a group of rare inherited disorders known as lysosomal storage diseases. We study a specific group of lysosomal storage diseases called the neuronal ceroid lipofuscinoses (NCLs) or Batten disease. The NCLs result from mutations that cause impairments in the ability of cells to degrade specific molecules that are normally broken down in specialized intracellular organelles called lysosomes. In children with NCL, the inability of cells in the nervous system to degrade molecules that would normally be turned over results in eventual death of the cells. This is accompanied by neurological signs that can include blindness, seizures, and loss of cognitive abilities and control of movements. Over time, the debilitating effects of the NCLs become progressively worse and affected individuals invariably die young. To learn more about how the tragedy of Batten disease affects children and their families, visit the website of the Batten Disease Support and..

Primary location: Columbia United States