Beyond Batten Disease Foundation

The Beyond Batten Disease Foundation (BBDF) is a non-profit organization whose mission is to eradicate Batten Disease. They seek to accomplish this mission through funding research to find a cure, and by preventing the disease through creation of a comprehensive carrier screening test that will screen for the gene mutations that lead to Batten Disease and hundreds of other devastating genetic diseases that affect children. Batten disease is a rare genetic disorder that belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses. These disorders share certain similar symptoms and are distinguished in part by the age at which such symptoms appear. Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.