Dr. Warren led the research that discovered how the gene mutation responsible for Fragile X Syndrome (FXS) alters the way brain cells communicate. FXS is the most commonly inherited form of mental retardation, with nearly a third of FXS patients also having autism, making FXS the single best understood cause of autism and a model for autism research.

FXS is caused by a mutation in the FMR1 gene on the X chromosome. Dr. Warren and his colleagues led an international team that discovered the FMR1 gene in 1991.They found that in patients with FXS, the expanded CGG triplet repeats can be repeated from 55 to over 200 times—whereas in healthy individuals the repeats range from 40 to fewer than 10. As a result of the hyper-CGG repeats, the expression of the FMR1 gene is repressed, which leads to the absence of FMR1 protein and subsequent mental retardation.

Dr. Warren and his team have since developed diagnostic tests for FXS. Clinical trials are now under way for FXS, taking advantage of the fundamental basic science research on FXS carried out over the past two decades. FXS is now used as a model of how fundamental research on autism could lead the way for future therapeutic interventions in autistic disorders.

In her briefing for the Congressional Biomedical Research Caucus, Dr. Carson examines the deterioration of memory in older adults in a new light — not that of a mind being ravaged by dementia, but instead a mind widening its ability to process more details than that of a younger brain. For decades, cognitive research on the older brain has focused on the decline of thinking abilities. Newer research, however, suggests that much of this observed decline may actually result from lifestyle changes or illness rather than from inevitable brain atrophy.

Dr. Carson highlights how scientists are now beginning to focus on ways that cognition can actually improve with age. Research suggests that brainpower is not declining but that more information is being processed. Dr. Carson reviews the research on age-related brain changes and brain plasticity, and discusses how these changes affect wisdom and creativity. She also discusses initiatives to maintain and even improve cognition in later years.

Each year Congress appropriates billions of dollars to fund the National Institutes of Health (NIH). Did you ever consider how the money is distributed? With a budget of roughly $30 billion per year, the decisions that most strongly influence allocation of NIH funds are made by peer review by groups of professional scientists who typically are themselves funded by NIH. Is peer review really the best way to fund biomedical research? Are there intrinsic problems that compromise it? Could changes in peer review improve the quality of research?

These and other issues are discussed by Dr. Keith R. Yamamoto, an active scientist who has been involved in NIH peer review for almost 25 years, most recently leading an overall evaluation that produced key changes in the process.