Dr. Alberto Costa has a personal stake in his Down syndrome research: his daughter, Tyche. Costa's life and work changed direction after she was born 16 years ago and Costa — a physician and neuroscientist — decided to dedicate his career to the study of Down syndrome.
In the past decade and a half, Costa's research has focused on normalizing the brain cells in the hippocampus, the portion of the brain responsible for memory and spatial navigation. In 2006, Costa published a study that found that a drug — the antidepressant Prozac — could normalize the cells in this area of the brain. But it was still unclear whether or not these normalized cells would automatically translate to better memory and improve cognitive deficits. The next year, Costa worked with Down syndrome mice and found that the Alzheimer’s drug memantine could improve their memory. Costa's study showed that a single injection of memantine produced benefits within minutes, enabling Down-equivalent mice to learn as well as standard mice.
Costa's theory is that memantine works not by increasing or changing brain cells, but by normalizing how they work. People with Down syndrome have three copies of all or most of the genes on Chromosome 21 instead of just two, so receptors in this area of the brain tend to be hyperactive — overreacting to stimuli and making it difficult for the brain to focus and learn. Memantine, according to Costa's hypothesis, quiets the noise, allowing the brain cells to react normally. Costa's journey was the focus of a feature story in this Sunday's New York Times Magazine.
Now Costa is working on the first randomized clinical trial to use the drug in humans. For Costa's trail, he is testing memory and spatial learning in 40 young adults with Down syndrome who have received memantine pills daily for 16 weeks. Costa will present preliminary results of this research at a scientific meeting in Illinois this fall. If successful, memantine could provide a new future for Costa's daughter Tyche and the 400,000 other people living with Down syndrome in the U.S.