The Manton Center for Orphan Disease Research
Gerard T. Berry, MD
Gerard T. Berry, MD, is one of the nation's leading specialists in the study and treatment of galactosemia. This hereditary disease is caused by the lack of a liver enzyme required to assimilate galactose, a lactose byproduct found in breast milk and dairy products.
Galactosemia usually causes no symptoms at birth, but jaundice, vomiting and cataracts develop with progressive exposure to lactose, and affected babies fail to gain weight. If undetected, classic galactosemia results in liver disease, hemorrhage, brain swelling and usually death in the first few weeks of life. Even with dietary lactose restriction, patients still manifest cognitive deficits, speech defects, reduced bone mineral density and, in females, ovarian failure.
Among his many honors, Dr. Berry received the 2004 Emmanuel Shapira award, which is given by the Society for Inherited Metabolic Disorders for the year's best paper in the field of biochemical genetics and metabolism. Under Dr. Berry's direction, Children's Hospital is expanding its clinical services and research for children with galactosemia. The hospital conducted seminal studies and has supported a tradition of innovation in galactosemia research and care beginning in the 1970s, when the hospital's physicians and investigators:
- Were the first to recognize speech and language deficits in children with galactosemia.
- Determined that infection was a major cause of death in babies with galactosemia, a finding that prompted clinicians to turn to early recognition and aggressive, life-saving treatment.
- Showed that toxic metabolites accumulated in fetuses with galactosemia, even when their mothers avoided milk during pregnancy; as a result of the study, physicians recognized the inadequacy of shunning milk products.
Despite these advances and the most meticulous treatment, it is a major challenge for doctors to keep the disease at bay. Funding through The Manton Center enables Dr. Berry and his colleagues to conduct basic and clinical research side-by-side and translate findings into new therapies.