UR Researcher Uncovers How Defective Gene May Lead to Lethal,
Agonizing Child Disease  Results in May Issue of Nature Genetics
April 29, 1999  The way a genetic defect likely gives rise to a
lethal disease that strikes young children has been found by a
researcher at the Children’s Hospital at Strong of the
University of Rochester. The finding, in today’s issue of Nature
Genetics, is the first to successfully incorporate new genetic
technology called "microarrays" with basic biochemistry to
determine the cause of an inherited disease. The disease strikes
apparently healthy four and five year-olds, blinds them by age
seven, and degrades all their mental functions including speech
until their death between ages 15-20. Researchers estimate that
7,000 children suffer from this disease, called Batten’s
disease, in the U.S. alone.  An estimated 440,000 people are
carriers of the gene that causes Batten’s disease. A carrier is
a person who has inherited one copy of a defective gene from one
parent, and a healthy co